668:(CS) is a rare autosomal recessive PS. There are three types of CS, distinguished by severity and age of onset. It occurs at a rate of about 1 in 300,000-500,000 in the United States and Europe. The mean age of death is ~12 years, although the different forms differ significantly. Individuals with the type I (or classical) form of the disorder usually first show symptoms between one and three years and have lifespans of between 20 and 40 years. Type II Cockayne syndrome (CSB) is more severe: symptoms present at birth and individuals live to approximately 6–7 years of age. Type III has the mildest symptoms, first presents later in childhood, and the cause of death is often severe nervous system deterioration and respiratory tract infections.
967:
606:. Defective homologous recombination can cause mutation and genetic instability. Such defective recombination can introduce gaps and breaks within the genome and disrupt the function of genes, possibly causing growth retardation, aging and elevated risk of cancer. It introduces gaps and breaks within the genome and disrupts the function of genes, often causing retardation of growth, aging and elevated risks of cancers. The Bloom syndrome protein interacts with other proteins, such as topoisomerase IIIα and RMI2, and suppresses illegitimate recombination events between sequences that are divergent from strict homology, thus maintaining genome stability. Individuals with BS have a
1235:
models with premature aging symptoms have different genetic backgrounds, they all have abnormal structures of tissues/organs as a result of defective development. Misrepair-accumulation aging theory suggests that the abnormality of tissue structure is the common point between premature aging and normal aging. Premature aging is a result of Mis-construction during development as a consequence of gene mutations, whereas normal aging is a result of accumulation of
Misrepairs for the survival of an organism. Thus the process of development and that of aging are coupled by Mis-construction and Mis-re-construction (Misrepair) of the structure of an organism.
1015:
324:
730:
1111:
peripheral heterochromatin, and clustering of nuclear pores", causing the nucleus to lose its shape and integrity. The prelamin A also maintains the farnesyl and a methyl moiety on its C-terminal cysteine residue, ensuring their continued localization at the membrane. When this farnesylation is prevented using farnesyltransferase inhibitor (FTI), the abnormalities in nuclear shape are significantly reduced.
527:
syndrome, through mutation in the RecQ helicases. These associations have led to the speculation that BS could be associated with aging. Unfortunately, the average lifespan of persons with Bloom syndrome is 27 years; consequently, there is insufficient information to completely rule out the possibility that BS is associated with some features of aging.
1187:, abnormal facial features (small mouth, small pinched nose and micrognathia), sparse or absent eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia and multiple joint contractures. Most affected individuals die in the uterus or are stillbirths, and liveborns usually die within a week.
1068:
and generally appearing aged. Other features include skeletal alterations (osteolysis, osteoporosis), amyotrophy (wasting of muscle), lipodystrophy and skin atrophy (loss of subcutaneous tissue and fat) with sclerodermatous focal lesions, severe atherosclerosis and prominent scalp veins. However, the
530:
People with BS start their life with a low weight and length when they are born. Even as adults, they typically remain under 5 feet tall. Individuals with BS are characterized by low weight and height and abnormal facial features, particularly a long, narrow face with a small lower jaw, a large nose
1234:
Hutchinson–Gilford progeria syndrome, Werner syndrome, and
Cockayne syndrome are the three genetic disorders in which patients have premature aging features. Premature aging also develops on some animal models which have genetic alterations. Although the patients with these syndromes and the animal
1138:
promote genetic stability by maintaining levels of proteins which have key roles in NHEJ and HR. Mouse cells deficient for maturation of prelamin A show increased DNA damage and chromosome aberrations and have increased sensitivity to DNA damaging agents. In HGPS, the inability to adequately repair
1110:
In the truncated lamin A precursor, this cleavage is not possible and the prelamin A cannot mature. When the truncated prelamin A is localized to the nuclear envelope, it will not be processed and accumulates, leading to "lobulation of the nuclear envelope, thickening of the nuclear lamina, loss of
1260:
WR is associated with abnormalities in bone maturation, and lipids and hormone metabolism. Affected individuals exhibit intrauterine and postnatal growth retardation, leading to short stature and an aged appearance from birth. They have physical abnormalities including a large head (macrocephaly),
1051:
Individuals with HGPS typically appear normal at birth, but their growth is severely retarded, resulting in short stature, a very low body weight and delayed tooth eruption. Their facial/cranial proportions and facial features are abnormal, characterized by larger-than-normal eyes, a thin, beaked
1047:
condition, characterized by premature and accelerated aging (~7 times the normal rate) beginning at childhood. It affects 1 in ~4 million newborns; over 130 cases have been reported in the literature since the first described case in 1886. The mean age of diagnosis is ~3 years and the mean age of
970:
Lamin is required at the inner nuclear membrane to ensure the nucleus keeps its shape. Mutations in LMNA causes dysfunctional lamin, and the nucleus can no longer keeps its shape. This leads to mislocalisation of heterochromatin, which normally lie in close proximity, or with, the nuclear matrix,
350:
disorder. It has a global incidence rate of less than 1 in 100,000 live births, although incidences in Japan and
Sardinia are higher, where it affects 1 in 20,000-40,000 and 1 in 50,000, respectively. As of 2006, there were approximately 1,300 reported cases of WS worldwide. Affected individuals
5195:
Jacquinet A, Verloes A, Callewaert B, Coremans C, Coucke P, De Paepe A, Kornak U, Lebrun F, Lombret J, Pierard GE, Robinson PN, Symoens S, Van
Maldergem L, Debray FG (2014). "Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1
650:
and
Cerebro-oculo-facio-skeletal (COFS) syndrome, can also be caused by defects in the NER pathway. However, unlike RecQ-associated PS, not all individuals affected by these diseases have increased risk of cancer. All these disorders can be caused by mutations in a single gene, XPD, or in other
310:
There are five genes encoding RecQ in humans (RECQ1-5), and defects in RECQL2/WRN, RECQL3/BLM and RECQL4 lead to Werner syndrome (WS), Bloom syndrome (BS), and
Rothmund–Thomson syndrome (RTS), respectively. On the cellular level, cells of affected individuals exhibit chromosomal abnormalities,
4994:
Graul-Neumann LM, Kienitz T, Robinson PN, Baasanjav S, Karow B, Gillesen-Kaesbach G, Fahsold R, Schmidt H, Hoffmann K, Passarge E (2010). "Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3-prime terminus of the FBN1-gene".
526:
There is no evidence from the Bloom's
Syndrome Registry or from the peer-reviewed medical literature that BS is a progeroid condition associated with advanced aging. It is, however, associated with early-onset cancer and adult-type diabetes and also with Werner syndrome, which is a progeroid
1304:
Some segmental progeroid syndromes, such as Werner syndrome (WS), Bloom syndrome (BS), Rothmund-Thomson syndromes (RTS) and combined xeroderma pigmentosa-Cockayne syndrome (XP-CS), are associated with an increased risk of developing cancer in the affected individual; two exceptions are
483:, which would normally transport it to the nucleus where it can interact with the DNA. This leads to a reduction in DNA repair. Furthermore, mutated proteins are more likely to be degraded than normal WRNp. Apart from causing defects in DNA repair, its aberrant association with
870:(TTD) is a rare autosomal recessive disease whose symptoms span across multiple systems and can vary greatly in severity. The incidence rate of TTD is estimated to be 1.2 per million in Western Europe. Milder cases cause sparse and brittle hair, which is due to the lack of
4903:
Liu B, Wang J, Chan KM, Tjia WM, Deng W, Guan X, Huang JD, Li KM, Chau PY, Chen DJ, Pei D, Pendas AM, Cadiñanos J, LĂłpez-OtĂn C, Tse HF, Hutchison C, Chen J, Cao Y, Cheah KS, Tryggvason K, Zhou Z (2005). "Genomic instability in laminopathy-based premature aging".
928:, the first two of which are also linked to xeroderma pigmentosum. However, patients with TTD do not show a higher risk of developing skin cancer, in contrast to patients with XP. The three genes associated with TTD encode for XPB, XPD and p8/TTDA of the
4810:
Mazereeuw-Hautier, J; Wilson, LC; Mohammed, S; Smallwood, D; Shackleton, S; Atherton, DJ; Harper, JI (2007). "Hutchinson–Gilford progeria syndrome: Clinical findings in three patients carrying the G608G mutation in LMNA and review of the literature".
3236:
Kleijer, WJ; Laugel, V; Berneburg, M; Nardo, T; Fawcett, H; Gratchev, A; Jaspers, NG; Sarasin, A; et al. (2008). "Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy".
874:, an element that is part of the matrix proteins that give hair its strength. More severe cases cause delayed development, significant intellectual disability, and recurrent infection; the most severe cases see death at infancy or early childhood.
457:, the only gene currently connected to Werner syndrome. WRN encodes the WRNp protein, a 1432 amino acid protein with a central domain resembling members of the RecQ helicases. WRNp is active in unwinding DNA, a step necessary in DNA repair and
81:
are two well-known accelerated-aging diseases that are more frequent in older individuals. They affect only one tissue and can be classified as unimodal progeroid syndromes. Segmental progeria, which is more frequently associated with the term
1118:
gene needs to be mutated to produce this phenotype. As the phenotype is caused by an accumulation of the truncated prelamin A, only mutation in one of the two genes is sufficient. At least 16 Other mutations in lamin A/C, or defects in the
782:, poor coordination, decreased intellectual abilities, difficulty swallowing and talking, and seizures; these effects tend to become progressively worse over time. All affected individuals have a 1000-fold higher risk of developing
3647:
Xeroderma pigmentosa is a rare, autosomal recessive disease caused by a defective UV-specific endonuclease. Patients with mutations are unable to repair DNA damage caused by sunlight and have been described as "children of the
2037:
Masala, MV; Scapaticci, S; Olivieri, C; Pirodda, C; Montesu, MA; Cuccuru, MA; Pruneddu, S; Danesino, C; et al. (2007). "Epidemiology and clinical aspects of Werner's syndrome in North
Sardinia: Description of a cluster".
5088:
Romere C, Duerrschmid C, Bournat J, Constable P, Jain M, Xia F, Saha PK, Del Solar M, Zhu B, York B, Sarkar P, Rendon DA, Gaber MW, LeMaire SA, Coselli JS, Milewicz DM, Sutton VR, Butte NF, Moore DD, Chopra AR (April 2016).
5041:
Takenouchi T, Hida M, Sakamoto Y, Torii C, Kosaki R, Takahashi T, Kosaki K (2013). "Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype".
945:
gene has been associated with this form of TTD, although it accounts for only 20% of all known cases of the non-photosensitive form of TTD, and the function of its gene product is also unclear. Mutations in the
3591:
Yang, LY; Jiang, H; Rangel, KM (2003). "RNA polymerase II stalled on a DNA template during transcription elongation is ubiquitinated and the ubiquitination facilitates displacement of the elongation complex".
298:, but in the context of PS, it is a required step in repairing damaged DNA. Thus, DNA helicases, maintain the integrity of a cell, and defects in these helicases are linked to an increased predisposition to
754:
Europe populations but with a higher incidence rate in Japan, North Africa, and the Middle East. There have been 830 published cases from 1874 to 1982. The disorder presents at infancy or early childhood.
1399:
is about a boy who was born with the appearance of a 70-year-old and who ages backwards. This short story is thought to be inspired by progeria. The description of the fictitious
Smallweed family in the
2596:
Amor-Guéret, M; Dubois-d'Enghien, C; Laugé, A; Onclercq-Delic, R; Barakat, A; Chadli, E; Bousfiha, AA; Benjelloun, M; et al. (2008). "Three new BLM gene mutations associated with Bloom syndrome".
2133:
Oshima J, Martin GM, Hisama FM. Werner
Syndrome. 2002 Dec 2 . In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews™ . Seattle (WA): University of Washington, Seattle; 1993-. Available from:
639:
joins the strands together to form dsDNA. There are two subpathways for NER, which differ only in their mechanism for recognition: global genomic NER (GG-NER) and transcription coupled NER (TC-NER).
721:. Mutations in ERCC8, ERCC6, or both mean DNA is no longer repaired through TC-NER, and the accumulation of mutations leads to cell death, which may contribute to the symptoms of Cockayne syndrome.
932:(TFIIH) complex, which is involved in transcription and DNA damage repair. Mutations in one of these genes cause reduction of gene transcription, which may be involved in development (including
4461:
Jansen, T; Romiti, R (2000). "Progeria infantum (Hutchinson–Gilford syndrome) associated with scleroderma-like lesions and acro-osteolysis: A case report and brief review of the literature".
1221:
1537:, an extremely rare genetic disorder which is unique from other PS because of the absence of any cardiovascular abnormalities (which lead to premature death in cases where they are present)
642:
Defects in the NER pathway have been linked to progeroid syndromes. There are 28 genes in this pathway. Individuals with defects in these genes often have developmental defects and exhibit
5809:
1367:
who has a syndrome that resembles progeria, although the exact nature is unclear; it is now thought to be a form of neonatal progeroid syndrome. Velásquez is an advocate of anti-bullying.
590:, or mutations of other kinds and are likely to cause deletions in the gene product. Apart from helicase activity that is common to all RecQ helices, it also acts to prevent inappropriate
5930:
Maloney, W. J. (2009). "Hutchinson–Gilford Progeria Syndrome: Its Presentation in F. Scott Fitzgerald's Short Story 'The Curious Case of Benjamin Button' and Its Oral Manifestations".
5839:
6418:
1048:
death is ~13 years. The cause of death is usually myocardial infarction, caused by the severe hardening of the arteries (arteriosclerosis). There is currently no treatment available.
602:. During this time, the homologous (corresponding) copies are in close physical proximity to each other, allowing them to 'cross' and exchange genetic information, a process called
704:), which encodes for the CSA protein. These mutations are thought to cause alternate splicing of the pre-mRNA which leads to an abnormal protein. CSB is caused by mutations in the
646:. They can also develop CS, XP, and TTD, often in combination with each other, as with combined xeroderma pigmentosa-Cockayne syndrome (XP-CS). Variants of these diseases, such as
1257:, is an autosomal recessive progeroid syndrome. More than 30 cases have been reported. Most affected individuals die by seven months of age, but some do survive into their teens.
2073:
6405:
801:
There are eight types of XP (XP-A through XP-G), plus a variant type (XP-V), all categorized based on the genetic cause. XP can be caused by mutations in any of these genes:
3814:
Kraemer, KH; Lee, MM; Andrews, AD; Lambert, WC (1994). "The role of sunlight and DNA repair in melanoma and nonmelanoma skin cancer. The xeroderma pigmentosum paradigm".
786:: half of the affected population develop skin cancer by age 10, usually at areas most exposed to sunlight (e.g. face, head, or neck). The risk for other cancers such as
1394:
5416:
1103:; this farnesylation is important in targeting lamin to the nuclear envelope, where it maintains its integrity. Normally, lamin A is recognized by ZMPSTE24 (FACE1, a
3008:
Graham, John M.; Anyane-Yeboa, Kwame; Raams, Anja; Appeldoorn, Esther; Kleijer, Wim J.; Garritsen, Victor H.; Busch, David; Edersheim, Terri G.; et al. (2001).
610:, which means that the illegitimate recombination is no longer suppressed, leading to higher rates of mutation (~10-100 times above normal, depending on cell type).
539:
and leads to reddening of the skin, usually presented as a "butterfly-shaped patch of reddened skin across the nose and cheeks". Other characteristics of BS include
3108:"Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene"
4854:
Redwood AB, Perkins SM, Vanderwaal RP, Feng Z, Biehl KJ, Gonzalez-Suarez I, Morgado-Palacin L, Shi W, Sage J, Roti-Roti JL, Stewart CL, Zhang J, Gonzalo S (2011).
1805:
Ouyang, KJ; Woo, LL; Ellis, NA (2008). "Homologous recombination and maintenance of genome integrity: Cancer and aging through the prism of human RecQ helicases".
635:(MMR). In NER, the damaged DNA strand is removed and the undamaged strand is kept as a template for the formation of a complementary sequence with DNA polymerase.
6235:
306:. Thus, individuals with RecQ-associated PS show an increased risk of developing cancer, which is caused by genomic instability and increased rates of mutation.
3430:
Komatsu, A; Suzuki, S; Inagaki, T; Yamashita, K; Hashizume, K (2004). "A kindred with Cockayne syndrome caused by multiple splicing variants of the CSA gene".
936:), and thus may explain retardation in intellectual abilities, in some cases; these mutations also lead to reduction in DNA repair, causing photosensitivity.
853:
of DNA damage resulting from UV radiation; its mutation leads to an overall increase in UV-dependent mutation, which ultimately causes the symptoms of XP.
359:
growth spurt. The mean age of diagnosis is twenty-four. The median and mean age of death are 47-48 and 54 years, respectively; the main cause of death is
5872:
3010:"Cerebro-Oculo-Facio-Skeletal Syndrome with a Nucleotide Excision–Repair Defect and a Mutated XPD Gene, with Prenatal Diagnosis in a Triplet Pregnancy"
5395:
Wang-Michelitsch, Jicun; Michelitsch, Thomas (2015). "Premature aging as a consequence of Misconstruction of tissues and organs during development".
2883:"Increased rate of spontaneous mitotic recombination in T lymphocytes from a Bloom's syndrome patient using a flow-cytometric assay at HLA-A locus"
966:
5817:
4950:
Navarro, C. L.; De Sandre-Giovannoli, A; Bernard, R; Boccaccio, I; Boyer, A; Geneviève, D; Hadj-Rabia, S; Gaudy-Marqueste, C; et al. (2004).
1196:
683:
photosensitivity (sensitivity to sunlight), neurodevelopmental abnormalities, and deafness, and often exhibit lipoatrophy, atrophic skin, severe
2301:
Salk, D; Au, K; Hoehn, H; Martin, GM (1981). "Cytogenetics of Werner's syndrome cultured skin fibroblasts: Variegated translocation mosaicism".
2092:"Werner's syndrome a review of its symptomatology, natural history, pathologic features, genetics and relationship to the natural aging process"
717:, halting its progress thus allowing the TC-NER mechanism to be carried out. The ubiquitinated RNAP II then dissociates and is degraded via the
3619:
454:
152:(HGPS). Individuals with these disorders tend to have a reduced lifespan. Progeroid syndromes have been widely studied in the fields of aging,
2274:
Martin, GM; Sprague, CA; Epstein, CJ (1970). "Replicative life-span of cultivated human cells. Effects of donor's age, tissue, and genotype".
710:
gene, which encodes the CSB protein. CSA and CSB are involved in transcription-coupled NER (TC-NER), which is involved in repairing DNA; they
294:
are enzymes that bind to double-stranded DNA and temporarily separate them. This unwinding is required during replication of the genome under
5849:
3741:
552:
6068:
Park, CJ; Choi, BS (2006). "The protein shuffle. Sequential interactions among components of the human nucleotide excision repair pathway".
5572:
Puzianowska-Kuznicka, M; Kuznicki, J (2005). "Genetic alterations in accelerated ageing syndromes. Do they play a role in natural ageing?".
1248:
164:. The most widely studied of the progeroid syndromes are Werner syndrome and Hutchinson–Gilford progeria, as they are seen to most resemble
502:
and extensive deletions. These DNA damages, chromosome aberrations and mutations may in turn cause more RecQ-independent aging phenotypes.
5353:
Wang, Jicun; Michelitsch, Thomas; Wunderlin, Arne; Mahadeva, Ravi (2009). "Aging as a consequence of Misrepair –a novel theory of aging".
4952:"Lamin a and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy"
4726:
Broers, JL; Ramaekers, FC; Bonne, G; Yaou, RB; Hutchison, CJ (2006). "Nuclear lamins: Laminopathies and their role in premature ageing".
3689:
Kraemer, KH; Lee, MM; Scotto, J (1987). "Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases".
843:. These genes are all involved in the NER repair pathway that repairs damaged DNA. The variant form, XP-V, is caused by mutations in the
5779:
4769:
Verstraeten, VL; Broers, JL; Van Steensel, MA; Zinn-Justin, S; Ramaekers, FC; Steijlen, PM; Kamps, M; Kuijpers, HJ; et al. (2006).
2726:"BLAP18/RMI2, a novel OB-fold-containing protein, is an essential component of the Bloom helicase-double Holliday junction dissolvasome"
1216:
1203:, the term is a misnomer since they do not exhibit accelerated aging. The condition is caused by mutations near the 3'-terminus of the
1084:
11 of the pre-mRNA to come into action, leading to the last 150 base pairs of that exon, and consequently, the 50 amino acids near the
571:
in females. In line with any RecQ-associated PS, people with BS have an increased risk of developing cancer, often more than one type.
86:
tends to affect multiple or all tissues while causing affected individuals to exhibit only some of the features associated with aging.
6448:
3633:
1534:
1699:
Kaneko, H; Fukao, T; Kondo, N (2004). "The function of RecQ helicase gene family (especially BLM) in DNA recombination and joining".
6228:
2930:
Cleaver, JE; Lam, ET; Revet, I (2009). "Disorders of nucleotide excision repair: The genetic and molecular basis of heterogeneity".
556:
6365:
1504:
647:
3075:
3058:
523:
background, presenting in around 1 in 50,000. Approximately one-third of individuals who have BS are of Ashkenazi Jewish descent.
189:
5664:
Okur, Mustafa N.; Fang, Evandro F.; Fivenson, Elayne M.; Tiwari, Vinod; Croteau, Deborah L.; Bohr, Vilhelm A. (December 2020).
4201:
De Sandre-Giovannoli, A.; Bernard, R; Cau, P; Navarro, C; Amiel, J; Boccaccio, I; Lyonnet, S; Stewart, CL; et al. (2003).
4111:
Stefanini, M; Botta, E; Lanzafame, M; Orioli, D (2010). "Trichothiodystrophy: From basic mechanisms to clinical implications".
849:
gene, which unlike the rest does not code for components of the NER pathway but produces a DNA polymerase that allows accurate
548:
6148:
Mallory, Susan B.; Krafchik, Bernice R.; Bender, Matthew M.; Potocki, Lorraine; Metry, Denise W. (2003). "Cockayne Syndrome".
4504:
De Sandre-Giovannoli, A; Bernard, R; Cau, P; Navarro, C; Amiel, J; Boccaccio, I; Lyonnet, S; Stewart, CL; et al. (2003).
1910:
Hasty, P.; Campisi, J; Hoeijmakers, J; Van Steeg, H; Vijg, J (2003). "Aging and Genome Maintenance: Lessons from the Mouse?".
519:(BS) is a very rare autosomal recessive disorder. Incidence rates are unknown, although it is known to be higher in people of
479:
into the WRNp protein. Mutations may also lead to the truncation (shortening) of the WRNp protein, leading to the loss of its
6279:
5424:
3106:
Broughton, B. C.; Berneburg, M; Fawcett, H; Taylor, EM; Arlett, CF; Nardo, T; Stefanini, M; Menefee, E; et al. (2001).
2636:"Intrachromosomal recombination between highly diverged DNA sequences is enabled in human cells deficient in Bloom helicase"
1337:
Alterations in lipid and carbohydrate metabolism, a triplet-repeat disorder (myotonic dystrophy) and an idiopathic disorder
121:
4610:"Accumulation of mutant lamin a causes progressive changes in nuclear architecture in Hutchinson–Gilford progeria syndrome"
6201:
3951:
Itin, PH; Sarasin, A; Pittelkow, MR (2001). "Trichothiodystrophy: Update on the sulfur-deficient brittle hair syndromes".
3897:"Trichothiodystrophy: A systematic review of 112 published cases characterises a wide spectrum of clinical manifestations"
1326:
480:
3059:"A summary of mutations in the UV-sensitive disorders: Xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy"
2461:. Bethesda, Maryland: U.S. National Library of Medicine, a division of the National Institutes of Health. 27 October 2014
6438:
6221:
5607:
Karikkineth, Ajoy C.; Scheibye-Knudsen, Morten; Fivenson, Elayne; Croteau, Deborah L.; Bohr, Vilhelm A. (January 2017).
4608:
Goldman, RD; Shumaker, DK; Erdos, MR; Eriksson, M; Goldman, AE; Gordon, LB; Gruenbaum, Y; Khuon, S; et al. (2004).
1184:
671:
Individuals with CS appear prematurely aged and exhibit severe growth retardation leading to short stature. They have a
2973:
Lehmann, AR (2003). "DNA repair-deficient diseases, xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy".
5908:
1531:, a rare autosomal recessive genetic disorder caused by defect(s) in the Double Holliday junction DNA repair mechanism
1451:
1200:
1100:
6360:
4062:
Moslehi, R; Signore, C; Tamura, D; Mills, JL; Digiovanna, JJ; Tucker, MA; Troendle, J; Ueda, T; et al. (2010).
954:
is unknown, but the sex organs of individuals with this form of TTD often produce no hormones, a condition known as
758:
Xeroderma pigmentosum mostly affects the eye and skin. Individuals with XP have extreme sensitivity to light in the
6453:
6370:
6289:
3381:
Pasquier, L; Laugel, V; Lazaro, L; Dollfus, H; Journel, H; Edery, P; Goldenberg, A; Martin, D; et al. (2006).
1528:
1140:
1127:
619:
532:
220:
185:
2881:
Kusunoki, Y; Hayashi, T; Hirai, Y; Kushiro, J; Tatsumi, K; Kurihara, T; Zghal, M; Kamoun, MR; et al. (1994).
2146:
Goto, M; Miller, RW; Ishikawa, Y; Sugano, H (1996). "Excess of rare cancers in Werner syndrome (adult progeria)".
5886:
4669:"Blocking protein farnesyltransferase improves nuclear shape in fibroblasts from humans with progeroid syndromes"
1775:
Goode, EL; Ulrich, CM; Potter, JD (2002). "Polymorphisms in DNA repair genes and associations with cancer risk".
1455:
929:
770:
of skin, dry skin and pigmentation after exposure. When the eye is exposed to sunlight, it becomes irritated and
603:
499:
6350:
4257:
Eriksson, M; Brown, WT; Gordon, LB; Glynn, MW; Singer, J; Scott, L; Erdos, MR; Robbins, CM; et al. (2003).
1522:
1487:
1440:, more characters get this same fictional progeroid syndrome, which by then is called Chaos Child Syndrome. In
1317:
for progeroid syndromes, early observations have detected abnormalities within overall mitochondrial function,
1199:
typically exhibit congenital lipodystrophy and a neonatal progeroid appearance. Sometimes identified as having
1131:
591:
469:
4064:"Adverse effects of trichothiodystrophy DNA repair and transcription gene disorder on human fetal development"
464:
Mutations that cause Werner syndrome only occur at the regions of the gene that encode for protein and not at
453:
Approximately 90% of individuals with Werner Syndrome have any of a range of mutations in the eponymous gene,
3767:"Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: A complex genotype–phenotype relationship"
6443:
193:
5723:"Potential therapeutic effects of the MTOR inhibitors for preventing ageing and progeria-related disorders"
3475:"UV-induced ubiquitination of RNA polymerase II: A novel modification deficient in Cockayne syndrome cells"
6380:
6334:
4771:"Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin a accumulation"
4392:
2724:
Singh, TR; Ali, AM; Busygina, V; Raynard, S; Fan, Q; Du, CH; Andreassen, PR; Sung, P; et al. (2008).
1510:
1152:
1014:
688:
575:
360:
275:
153:
145:
78:
74:
5374:
Wang-Michelitsch, Jicun; Michelitsch, Thomas (2015). "Aging as a process of accumulation of Misrepairs".
5257:"Fibulin-5/DANCE has an elastogenic organizer activity that is abrogated by proteolytic cleavage in vivo"
4333:
2675:
Xu, D; Guo, R; Sobeck, A; Bachrati, CZ; Yang, J; Enomoto, T; Brown, GW; Hoatlin, ME; et al. (2008).
737:
with xeroderma pigmentosum. Children with XP are often colloquially referred to as Children of the Night.
6385:
6302:
5844:
5449:
4358:
2067:
1416:
1069:
level of cognitive function, motor skills, and risk of developing cancer is not affected significantly.
742:
476:
475:(mRNA), which increases the rate at which they are degraded. With fewer mRNA, fewer are available to be
283:
137:
129:
2176:
Huang, S; Lee, L; Hanson, NB; Lenaerts, C; Hoehn, H; Poot, M; Rubin, CD; Chen, DF; et al. (2006).
1123:
gene, have been shown to cause HGPS and other progeria-like symptoms, although these are less studied.
911:
and skeletal abnormalities. Half of affected individuals also experience photosensitivity to UV light.
694:
Type I and II are known to be caused by mutation of a specific gene. CSA is caused by mutations in the
627:
is a DNA repair mechanism. There are three excision repair pathways: nucleotide excision repair (NER),
73:
means "resembling premature aging", a definition that can apply to a broad range of diseases. Familial
5140:"De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy"
778:
becomes cloudy. Around 30% of affected individuals also develop neurological abnormalities, including
750:(XP) is a rare autosomal recessive disorder, affecting about one per million in the United States and
4680:
4621:
4270:
3625:
3545:
3486:
3347:
3197:
2835:
2408:
2349:
1957:
1513:, a rare progressive congenital disorder of the skin and bone marrow in some ways resembling progeria
1447:
1364:
628:
90:
4397:
6458:
6355:
6307:
5873:"Lizzie Velasquez, Born Without Adipose Tissue: 'Maybe You Should Stop Staring And Start Learning'"
1390:
1360:
1318:
1289:
1160:(RD), also called tight skin contracture syndrome, is a rare, lethal autosomal recessive perinatal
862:
632:
579:
540:
347:
197:
5666:"Cockayne syndrome proteins CSA and CSB maintain mitochondrial homeostasis through NAD+ signaling"
3188:
Andressoo, J.O.; Hoeijmakers, J.H.J. (2005). "Transcription-coupled repair and premature ageing".
1961:
6173:
6093:
6004:
5955:
5396:
5375:
5354:
5177:
5067:
5020:
4929:
4836:
4751:
4587:
4535:
4486:
4418:
4314:
4232:
4180:
3976:
3874:
3455:
3088:
2955:
2578:
1989:
1935:
1887:
1830:
1322:
1274:
1044:
845:
771:
287:
272:
3383:"Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays"
1736:"DNA helicase deficiencies associated with cancer predisposition and premature ageing disorders"
2506:
366:
Affected individuals can exhibit growth retardation, short stature, premature graying of hair,
6395:
6390:
6297:
6165:
6136:
6085:
6056:
5996:
5947:
5760:
5742:
5703:
5685:
5646:
5628:
5589:
5554:
5505:
5335:
5286:
5213:
5169:
5120:
5059:
5012:
4973:
4921:
4885:
4828:
4792:
4743:
4708:
4649:
4579:
4527:
4478:
4436:
4410:
4306:
4224:
4172:
4128:
4093:
4044:
3968:
3926:
3866:
3831:
3796:
3747:
3737:
3706:
3629:
3601:
3573:
3514:
3447:
3412:
3363:
3320:
3254:
3213:
3170:
3129:
3080:
3039:
2990:
2947:
2912:
2863:
2804:
2755:
2706:
2677:"RMI, a new OB-fold complex essential for Bloom syndrome protein to maintain genome stability"
2657:
2613:
2570:
2529:
2436:
2377:
2318:
2283:
2256:
2207:
2155:
2113:
2055:
1981:
1927:
1879:
1822:
1784:
1757:
1716:
1678:
1626:
1577:
1357:
famed for her efforts in spreading awareness of the condition. She was featured in the media.
714:
676:
660:
643:
595:
587:
583:
177:
141:
125:
5787:
4951:
3534:"Transcription-coupled and DNA damage-dependent ubiquitination of RNA polymerase II in vitro"
900:, abnormalities of the fingernails and toenails, clouding of the lens of the eye from birth (
468:
regions. These mutations can have a range of effects. They may decrease the stability of the
461:. Since WRNp's function depends on DNA, it is only functional when localized to the nucleus.
6157:
6126:
6118:
6077:
6046:
6038:
5986:
5939:
5750:
5734:
5693:
5677:
5636:
5620:
5581:
5544:
5536:
5495:
5487:
5325:
5317:
5276:
5268:
5205:
5159:
5151:
5110:
5102:
5051:
5004:
4963:
4913:
4875:
4867:
4820:
4782:
4735:
4698:
4688:
4639:
4629:
4569:
4517:
4470:
4402:
4296:
4286:
4278:
4214:
4162:
4120:
4083:
4075:
4034:
4023:"Trichothiodystrophy view from the molecular basis of DNA repair/transcription factor TFIIH"
4003:
3960:
3916:
3908:
3858:
3823:
3786:
3778:
3729:
3698:
3563:
3553:
3504:
3494:
3439:
3402:
3394:
3355:
3338:
Andressoo, JO; Hoeijmakers, JH (2005). "Transcription-coupled repair and premature ageing".
3312:
3246:
3205:
3160:
3119:
3070:
3029:
3021:
2982:
2939:
2902:
2894:
2853:
2843:
2794:
2786:
2745:
2737:
2696:
2688:
2647:
2605:
2560:
2521:
2426:
2416:
2367:
2357:
2310:
2246:
2238:
2197:
2189:
2103:
2047:
1973:
1919:
1869:
1861:
1814:
1747:
1708:
1668:
1616:
1608:
1567:
1477:
1472:
1168:
gene, which lead to the production of truncated prelamin A precursor, and insertions in the
1003:
999:
877:
TTD also affects the mother of the affected child during pregnancy, when she may experience
419:
45:
3849:
Cleaver, JE (2005). "Cancer in xeroderma pigmentosum and related disorders of DNA repair".
2225:
Spillare, EA; Robles, AI; Wang, XW; Shen, JC; Yu, CE; Schellenberg, GD; Harris, CC (1999).
1956:
Gray, Matthew D.; Shen, Jiang-Cheng; Kamath-Loeb, Ashwini S.; Blank, A.; Sopher, Bryce L.;
939:
A form of TTD without photosensitivity also exists, although its mechanism is unclear. The
406:. Other signs include change in voice, making it weak, hoarse, or high-pitched; atrophy of
6269:
1442:
1425:
1401:
1114:
HGPS is considered autosomal dominant, which means that only one of the two copies of the
1104:
994:
gene. Lamin A is a major nuclear component that determines the shape and integrity of the
729:
458:
431:
427:
399:
338:
323:
113:
4259:"Recurrent de novo point mutations in lamin a cause Hutchinson–Gilford progeria syndrome"
3660:
17:
6107:"Roles of RECQ helicases in recombination based DNA repair, genomic stability and aging"
4684:
4625:
4301:
4274:
4258:
3765:
Kraemer, KH; Patronas, NJ; Schiffmann, R; Brooks, BP; Tamura, D; Digiovanna, JJ (2007).
3549:
3490:
3351:
3201:
2839:
2549:"Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry"
2412:
2353:
1874:
1849:
950:
gene explain another 10% of non-photosensitive TTD. The function of the gene product of
333:
parents must contribute a dysfunctional allele for an individual to develop the disease.
6375:
6274:
6131:
6106:
5755:
5722:
5698:
5665:
5641:
5608:
5549:
5524:
5500:
5475:
5330:
5305:
5281:
5256:
5164:
5139:
5115:
5090:
4880:
4855:
4703:
4668:
4149:
Morice-Picard, F; Cario-André, M; Rezvani, H; Lacombe, D; Sarasin, A; Taïeb, A (2009).
4088:
4063:
3921:
3896:
3791:
3782:
3766:
3407:
3382:
3149:"The xeroderma pigmentosum group D (XPD) gene: One gene, two functions, three diseases"
3034:
3009:
2907:
2898:
2882:
2824:"Evidence for increased in vivo mutation and somatic recombination in Bloom's syndrome"
2799:
2774:
2750:
2725:
2701:
2676:
2202:
2177:
1621:
1596:
1572:
1555:
1516:
1482:
1379:
1161:
882:
520:
511:
439:
133:
117:
6051:
6026:
4644:
4609:
4383:
Hennekam, RC (2006). "Hutchinson–Gilford progeria syndrome: Review of the phenotype".
3568:
3533:
3473:
Bregman, DB; Halaban, R; Van Gool, AJ; Henning, KA; Friedberg, EC; Warren, SL (1996).
2858:
2823:
2372:
2337:
2251:
2226:
1712:
6432:
6400:
6261:
6161:
6081:
6008:
4824:
4474:
4079:
3509:
3474:
3277:
2431:
2396:
2108:
2091:
1350:
1314:
1270:
1212:
1180:
886:
878:
684:
472:
465:
391:
375:
265:
256:
6177:
6097:
5959:
5181:
5071:
5024:
4933:
4840:
4591:
4539:
4490:
4422:
4236:
4184:
3980:
3459:
3092:
2582:
1993:
1891:
1139:
DNA damages due to defective A-type lamin may cause aspects of premature aging (see
893:. After birth, the child's normal growth is retarded, resulting in a short stature.
751:
5476:"Wiedemann–Rautenstrauch neonatal progeroid syndrome: Report of three new patients"
4755:
4318:
3878:
2959:
2397:"The Bloom's syndrome gene product promotes branch migration of holliday junctions"
2012:
1834:
1492:
1481:
is a 1996 American comedy-drama film, in which the titular character (portrayed by
1080:, point mutation p.G608G (GGC > GGT). This mutation causes a splice site within
1076:
gene, which encodes for lamin A. Specifically, most HGPS are caused by a dominant,
1061:
1053:
995:
955:
890:
696:
687:, sparse hair, calcium deposits in neurons, cataracts, sensorineural hearing loss,
672:
536:
495:
435:
205:
5975:"Reflections for August: Description of a Family with Progeria by Charles Dickens"
2480:
2454:
1939:
1434:, the character Shogun eventually dies of a progeroid syndrome, and in its sequel
5991:
5974:
5585:
4124:
3359:
3250:
3209:
2986:
2652:
2635:
1280:
The cause of WR is unknown, although defects in DNA repair have been implicated.
3827:
3733:
1436:
1411:
1406:
1375:
1266:
1205:
978:
791:
787:
783:
759:
564:
383:
209:
101:. Most known PS are due to genetic mutations that lead to either defects in the
5209:
5106:
4739:
4614:
Proceedings of the National Academy of Sciences of the United States of America
3728:. Advances in Experimental Medicine and Biology. Vol. 637. pp. 10–8.
3702:
3479:
Proceedings of the National Academy of Sciences of the United States of America
2828:
Proceedings of the National Academy of Sciences of the United States of America
2507:"Roles of the Bloom's syndrome helicase in the maintenance of genome stability"
2401:
Proceedings of the National Academy of Sciences of the United States of America
2342:
Proceedings of the National Academy of Sciences of the United States of America
1458:, the main character, Kimberly Levaco, has an unnamed progeria-like condition.
1378:
with progeria (as of 2008). His fame came about after a documentary in 2008 on
6252:
6191:
6122:
5624:
5321:
2338:"Mutator phenotype of Werner syndrome is characterized by extensive deletions"
2134:
1865:
1818:
1467:
1430:
1410:
suggests the characters had progeria. Christopher Snow, the main character in
1085:
1065:
901:
897:
850:
839:
795:
718:
636:
599:
447:
443:
423:
356:
181:
102:
52:
49:
31:
27:
Range of genetic disorders which cause a person to appear to grow older faster
6027:"The comings and goings of nucleotide excision repair factors on damaged DNA"
5943:
5746:
5689:
5632:
3499:
3124:
3107:
1964:; Loeb, Lawrence A. (1997). "The Werner syndrome protein is a DNA helicase".
691:, and bone abnormalities. However, they do not have a higher risk of cancer.
4693:
4634:
4522:
4505:
4219:
4202:
3964:
3912:
3724:
Hengge, UR; Emmert, S (2009). "Clinical Features of Xeroderma Pigmentosum".
3398:
3316:
2362:
1923:
1293:
1262:
904:
734:
711:
680:
568:
488:
487:
down-regulates the function of p53, leading to a reduction in p53-dependent
411:
403:
303:
201:
157:
6169:
6140:
6089:
6060:
6042:
6000:
5951:
5764:
5721:
Evangelisti, Camilla; Cenni, Vittoria; Lattanzi, Giovanna (November 2016).
5707:
5650:
5593:
5339:
5290:
5217:
5173:
5124:
5063:
5016:
4977:
4925:
4889:
4871:
4832:
4796:
4747:
4712:
4653:
4583:
4574:
4557:
4531:
4482:
4414:
4310:
4228:
4176:
4132:
4097:
4048:
3972:
3930:
3870:
3800:
3751:
3605:
3577:
3558:
3451:
3416:
3367:
3258:
3217:
3174:
3133:
3084:
3043:
2994:
2951:
2808:
2759:
2710:
2661:
2617:
2574:
2533:
2440:
2421:
2260:
2242:
2211:
2059:
1931:
1883:
1826:
1788:
1761:
1752:
1735:
1720:
1682:
1630:
1581:
1519:, a rare genetic defect in a cluster of proteins responsible for DNA repair
327:
Werner syndrome is inherited in an autosomal recessive manner, which means
5558:
5509:
5272:
3835:
3710:
3518:
3324:
2916:
2867:
2848:
2609:
2381:
2322:
2287:
2159:
2117:
2051:
1985:
1612:
1265:, widened anterior fontanelles, hollow cheeks (malar hypoplasia), general
6329:
5540:
5491:
5155:
5055:
5008:
4968:
4787:
4770:
4406:
4291:
4167:
4150:
4039:
4022:
3994:
Reis, PJ (1992). "Variations in the strength of wool fibres - A review".
3443:
1673:
1660:
1354:
1096:
1089:
1057:
1035:
990:(RD) are two PS caused by a defect in lamin A/C, which is encoded by the
933:
779:
607:
544:
415:
367:
279:
260:
149:
94:
64:
60:
55:, making affected individuals appear to be older than they are. The term
4282:
2790:
2741:
2692:
2525:
1072:
HGPS is caused by sporadic mutations (not inherited from parent) in the
5681:
3303:
Nance, MA; Berry, SA (1992). "Cockayne syndrome: Review of 140 cases".
3165:
3148:
2565:
2548:
2505:
Cheok, CF; Bachrati, CZ; Chan, KL; Ralf, C; Wu, L; Hickson, ID (2005).
2193:
1977:
1371:
1088:, being deleted. This results in a truncated lamin A precursor (a.k.a.
767:
763:
379:
371:
352:
312:
295:
6213:
6210:, a reference portal for information on rare diseases and orphan drugs
5738:
4007:
2314:
1554:
Sinha, Jitendra Kumar; Ghosh, Shampa; Raghunath, Manchala (May 2014).
1126:
Repair of DNA double-strand breaks can occur by one of two processes,
977:
Further information on other diseases caused by defects in lamin:
227:(lamins) have been associated with the following progeroid syndromes:
3190:
Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis
3076:
10.1002/(SICI)1098-1004(1999)14:1<9::AID-HUMU2>3.0.CO;2-6
1370:
Jesper Sørensen is widely recognized in Denmark as the only child in
1176:
941:
924:
908:
871:
775:
560:
387:
299:
165:
161:
6197:
3862:
2943:
394:, abnormal fat deposition leading to thin legs and arms, and severe
5401:
5380:
5231:
4917:
3025:
1525:, a rare autosomal genetic disorder caused by defects in DNA repair
5609:"Cockayne syndrome: Clinical features, model systems and pathways"
5359:
2395:
Karow, JK; Constantinou, A; Li, JL; West, SC; Hickson, ID (2000).
1135:
1107:) and cleaved, removing the farnesol and a few other amino acids.
1023:
1013:
827:
821:
809:
728:
706:
594:. During replication of the genome, the two copies of DNA, called
407:
395:
216:
4856:"A dual role for A-type lamins in DNA double-strand break repair"
1471:, a 2009 Indian comedy-drama film, features a protagonist, Auro (
574:
BS is caused by mutations in the BLM gene, which encodes for the
6321:
1081:
803:
224:
106:
98:
6217:
2227:"P53-mediated apoptosis is attenuated in Werner syndrome cells"
1175:
Individuals with RD exhibit growth retardation starting in the
675:(less than the -3 standard deviation), fail to gain weight and
5306:"Premature aging in klotho mutant mice: cause or consequence?"
3057:
Cleaver, JE; Thompson, LH; Richardson, AS; States, JC (1999).
1420:, has xeroderma pigmentosum, as does Luke from the 2002 novel
833:
815:
484:
5840:"Lizzie Velasquez's Lifelong Struggle With Bullying Revealed"
6204:
branch which coordinates and supports rare diseases research
5574:
The International Journal of Biochemistry & Cell Biology
5232:"OMIM Entry - #616914 - MARFAN LIPODYSTROPHY SYNDROME; MFLS"
1179:, tight and rigid skin with erosions, prominent superficial
188:
proposes that aging is a consequence of the accumulation of
30:"Premature aging" redirects here. For aging in general, see
4151:"New clinico-genetic classification of trichothiodystrophy"
2178:"The spectrum of WRN mutations in Werner syndrome patients"
2090:
Epstein, CJ; Martin, GM; Schultz, AL; Motulsky, AG (1966).
1491:, a 2006 Japanese film, features Kaoru Amane (portrayed by
1273:, beaked noses, mild to severe intellectual disability and
3895:
Faghri, S; Tamura, D; Kraemer, KH; Digiovanna, JJ (2008).
2547:
German, J; Sanz, MM; Ciocci, S; Ye, TZ; Ellis, NA (2007).
1305:
Hutchinson–Gilford progeria (HGPS) and Cockayne syndrome.
4556:
Young, S. G.; Meta, M.; Yang, S. H.; Fong, L. G. (2006).
1595:
Gordon, Leslie B.; Cao, Kan; Collins, Francis S. (2012).
1507:, an extremely rare variant of xeroderma pigmentosum (XP)
5091:"Asprosin, a Fasting-Induced Glucogenic Protein Hormone"
2822:
Langlois, RG; Bigbee, WL; Jensen, RH; German, J (1989).
762:
range starting from one to two years of age, and causes
491:
and increase the survival of these dysfunctional cells.
180:, which lead to defects in the cellular processes which
6207:
1002:
that forms a filamentous meshwork underlying the inner
494:
Cells of affected individuals have reduced lifespan in
5810:"The girl who must eat every 15 minutes to stay alive"
2634:
Wang Y, Li S, Smith K, Waldman BC, Waldman AS (2016).
1056:), protruding ears, scalp hair, eyebrows, and lashes,
971:
nuclear blebbing and misregulation of gene expression.
282:
required for repairing DNA and preventing deleterious
450:, are increased in individuals with Werner syndrome.
1597:"Progeria: Translational insights from cell biology"
1556:"Progeria: a rare genetic premature ageing disorder"
6343:
6320:
6288:
6260:
6251:
4506:"Lamin a truncation in Hutchinson–Gilford progeria"
4203:"Lamin a Truncation in Hutchinson–Gilford Progeria"
598:, are held together through a structure called the
446:. In fact, the prevalence of rare cancers, such as
215:Mutations in three classes of DNA repair proteins,
67:), which is a specific type of progeroid syndrome.
4558:"Prelamin a Farnesylation and Progeroid Syndromes"
914:TTD is caused by mutations in one of three genes,
176:One of the main causes of progeroid syndromes are
89:All disorders within this group are thought to be
2775:"More complexity to the Bloom's syndrome complex"
2072:: CS1 maint: DOI inactive as of September 2024 (
1495:), a 16-year-old girl has xeroderma pigmentosum.
422:(thickening and loss of elasticity of arteries);
2148:Cancer Epidemiology, Biomarkers & Prevention
1777:Cancer Epidemiology, Biomarkers & Prevention
4673:Proceedings of the National Academy of Sciences
4196:
4194:
3538:Proceedings of the National Academy of Sciences
1850:"Molecular genetics of RecQ helicase disorders"
1026:which is unable to maintain the nuclear shape (
567:in males and reduced fertility and early-onset
6419:DNA replication and repair-deficiency disorder
3953:Journal of the American Academy of Dermatology
2336:Fukuchi, K; Martin, GM; Monnat Jr, RJ (1989).
1164:. Two known causes of RD are mutations in the
223:(NER) proteins, and nuclear envelope proteins
6229:
5255:Hirai, M; Ohbayashi, T; Horiguchi, M (2007).
5036:
5034:
3726:Molecular Mechanisms of Xeroderma Pigmentosum
1022:). This condition is caused by dysfunctional
8:
4945:
4943:
1905:
1903:
1901:
6198:NIH Office of Rare Diseases Research (ORDR)
5474:Arboleda, H; Quintero, L; Yunis, E (1997).
4385:American Journal of Medical Genetics Part A
4155:American Journal of Medical Genetics Part A
3996:Australian Journal of Agricultural Research
3432:American Journal of Medical Genetics Part A
2135:https://www.ncbi.nlm.nih.gov/books/NBK1514/
1006:, the membrane that surrounds the nucleus.
6406:Marfanoid–progeroid–lipodystrophy syndrome
6257:
6236:
6222:
6214:
4551:
4549:
2085:
2083:
578:, a RecQ helicase. These mutations may be
355:, when they do not experience the typical
351:typically grow and develop normally until
6130:
6050:
5990:
5754:
5697:
5640:
5548:
5499:
5400:
5379:
5358:
5329:
5280:
5163:
5114:
5083:
5081:
4967:
4879:
4786:
4702:
4692:
4643:
4633:
4603:
4601:
4573:
4521:
4396:
4300:
4290:
4252:
4250:
4248:
4246:
4218:
4166:
4144:
4142:
4087:
4038:
3946:
3944:
3942:
3940:
3920:
3890:
3888:
3790:
3684:
3682:
3567:
3557:
3508:
3498:
3406:
3231:
3229:
3227:
3164:
3123:
3074:
3033:
2906:
2857:
2847:
2798:
2749:
2700:
2651:
2564:
2430:
2420:
2371:
2361:
2250:
2201:
2171:
2169:
2107:
1873:
1751:
1672:
1654:
1652:
1650:
1648:
1646:
1644:
1642:
1640:
1620:
1571:
885:. The baby has a high risk of being born
557:infections of the upper respiratory tract
6025:Riedl, T.; Hanaoka, F; Egly, JM (2003).
5727:British Journal of Clinical Pharmacology
5444:
5442:
4989:
4987:
3272:
3270:
3268:
2007:
2005:
2003:
1951:
1949:
1800:
1798:
1661:"Molecular bases of progeroid syndromes"
1269:under the skin, delayed tooth eruption,
1172:, which lead to a premature stop codon.
965:
322:
311:genomic instability, and sensitivity to
192:. The accumulated damage may arise from
2629:
2627:
2129:
2127:
1546:
1197:Marfan-progeroid-lipodystrophy syndrome
555:(COPD). GER may also lead to recurrent
535:, which causes the blood vessels to be
5816:. London. 28 June 2010. Archived from
4359:"Hutchinson–Gilford progeria syndrome"
4353:
4351:
3014:The American Journal of Human Genetics
2065:
1694:
1692:
563:, and lungs during infancy. BS causes
531:and prominent ears. Most also develop
5871:Chan, Amanda L. (13 September 2012).
1659:Navarro, CL; Cau, P; LĂ©vy, N (2006).
1296:has still yet to be well researched.
1250:Wiedemann–Rautenstrauch (WR) syndrome
1052:nose, thin lips, small chin and jaw (
879:pregnancy-induced high blood pressure
553:chronic obstructive pulmonary disease
426:(calcium deposits in blood vessels);
196:(ROS), chemical reactions (e.g. with
7:
6330:Hutchinson–Gilford progeria syndrome
6192:Hutchinson–Gilford Progeria Syndrome
6105:Singh, DK; Ahn, B; Bohr, VA (2009).
3305:American Journal of Medical Genetics
1854:Cellular and Molecular Life Sciences
1807:Mechanisms of Ageing and Development
1261:sparse hair, prominent scalp veins,
1041:Hutchinson–Gilford progeria syndrome
1010:Hutchinson–Gilford progeria syndrome
984:Hutchinson–Gilford progeria syndrome
481:nuclear localization signal sequence
150:Hutchinson–Gilford progeria syndrome
65:Hutchinson–Gilford progeria syndrome
2887:Japanese Journal of Cancer Research
1848:Hanada, K.; Hickson, I. D. (2007).
1396:The Curious Case of Benjamin Button
1043:is an extremely rare developmental
5848:. February 1, 2013. Archived from
5525:"Wiedemann–Rautenstrauch syndrome"
5450:"Wiedemann–Rautenstrauch syndrome"
5417:"Wiedemann Rautenstrauch Syndrome"
4813:The British Journal of Dermatology
3783:10.1016/j.neuroscience.2006.12.020
2899:10.1111/j.1349-7006.1994.tb02403.x
1734:Mohaghegh, P; Hickson, ID (2001).
1535:Nestor-Guillermo progeria syndrome
1230:A common cause for premature aging
25:
5421:NORD Rare Disease Report Abstract
3594:International Journal of Oncology
1028:normal at top, abnormal at bottom
255:Further information on RecQ:
6162:10.1111/j.1525-1470.2003.20619.x
6082:10.1111/j.1742-4658.2006.05189.x
5304:Lanske, B; Razzaque, MS (2007).
4825:10.1111/j.1365-2133.2007.07897.x
4475:10.1046/j.1525-1470.2000.01775.x
4080:10.1111/j.1399-0004.2009.01336.x
3621:Medical Biochemistry at a Glance
3387:Archives of Disease in Childhood
2514:Biochemical Society Transactions
2109:10.1097/00005792-196605000-00001
1244:Wiedemann–Rautenstrauch syndrome
930:general transcription factor IIH
4562:Journal of Biological Chemistry
4021:Hashimoto, S; Egly, JM (2009).
2040:European Journal of Dermatology
237:Rothmund–Thomson syndrome (RTS)
190:naturally occurring DNA damages
2303:Cytogenetics and Cell Genetics
418:(clouding of lens); premature
1:
6202:National Institutes of Health
4334:"We need better drugs -- now"
1713:10.1016/S0065-227X(04)80061-3
1099:is added to prelamin A using
498:, more chromosome breaks and
430:(blockage of blood vessels);
6366:DeSanctis–Cacchione syndrome
5992:10.1212/WNL.0b013e3181ec7f6c
5909:"Seerne er vilde med Jesper"
5586:10.1016/j.biocel.2004.10.011
4125:10.1016/j.dnarep.2009.10.005
3360:10.1016/j.mrfmmm.2005.04.004
3251:10.1016/j.dnarep.2008.01.014
3210:10.1016/j.mrfmmm.2005.04.004
2987:10.1016/j.biochi.2003.09.010
2653:10.1016/j.dnarep.2016.03.005
1505:DeSanctis–Cacchione syndrome
733:An eight-year-old girl from
648:DeSanctis–Cacchione syndrome
5529:Journal of Medical Genetics
5480:Journal of Medical Genetics
3901:Journal of Medical Genetics
3828:10.1001/archderm.130.8.1018
3734:10.1007/978-0-387-09599-8_2
1456:adaptation of the same name
1452:Tony Award for Best Musical
1341:Society and popular culture
1327:nuclear regulatory proteins
1255:neonatal progeroid syndrome
1201:neonatal progeroid syndrome
1101:protein farnesyltransferase
907:), poor co-ordination, and
217:RecQ protein-like helicases
59:does not necessarily imply
6475:
6371:Nijmegen breakage syndrome
5932:Journal of Dental Research
5887:"Drengen i den gamle krop"
5210:10.1016/j.ejmg.2014.02.012
5107:10.1016/j.cell.2016.02.063
4740:10.1152/physrev.00047.2005
3959:(6): 891–920, quiz 921–4.
3703:10.1001/archderm.123.2.241
1529:Nijmegen breakage syndrome
1217:Excessive citations inline
1150:
1141:DNA damage theory of aging
1128:non-homologous end joining
1095:After being translated, a
1033:
976:
860:
740:
697:cross-complementing gene 8
658:
625:Nucleotide excision repair
620:Nucleotide excision repair
617:
509:
374:, prematurely aged faces,
336:
254:
243:Xeroderma pigmentosum (XP)
221:nucleotide excision repair
186:DNA damage theory of aging
93:, meaning they arise from
29:
6449:Aging-associated diseases
6414:
6280:Rothmund–Thomson syndrome
6194:described in GeneReviews™
6123:10.1007/s10522-008-9205-z
5625:10.1016/j.arr.2016.08.002
5322:10.1016/j.arr.2007.02.002
2773:Liu, Y; West, SC (2008).
1866:10.1007/s00018-007-7121-z
1819:10.1016/j.mad.2008.03.003
1667:. 15 Spec No 2: R151–61.
1353:was an English girl with
1284:Rothmund–Thomson syndrome
679:. They also have extreme
614:NER protein-associated PS
608:loss-of-function mutation
246:Trichothiodystrophy (TTD)
122:Rothmund–Thomson syndrome
18:Accelerated aging disease
5944:10.1177/0022034509348765
4956:Human Molecular Genetics
4775:Human Molecular Genetics
4027:Human Molecular Genetics
3500:10.1073/pnas.93.21.11586
3112:Human Molecular Genetics
2276:Laboratory Investigation
1740:Human Molecular Genetics
1665:Human Molecular Genetics
1185:epidermal hyperkeratosis
1132:homologous recombination
604:homologous recombination
592:homologous recombination
105:mechanism or defects in
6344:Other/related disorders
5613:Ageing Research Reviews
5138:Garg A, Xing C (2014).
4694:10.1073/pnas.0505767102
4635:10.1073/pnas.0402943101
4523:10.1126/science.1084125
4363:Genetics Home Reference
4220:10.1126/science.1084125
3965:10.1067/mjd.2001.114294
3913:10.1136/jmg.2008.058743
3816:Archives of Dermatology
3691:Archives of Dermatology
3665:Genetics Home Reference
3661:"Xeroderma pigmentosum"
3399:10.1136/adc.2005.080473
3317:10.1002/ajmg.1320420115
3282:Genetics Home Reference
3153:Genes & Development
2932:Nature Reviews Genetics
2779:Genes & Development
2730:Genes & Development
2681:Genes & Development
2485:Genetics Home Reference
2459:Genetics Home Reference
2363:10.1073/pnas.86.15.5893
2231:Genes & Development
2054:(inactive 2024-09-18).
2017:Genetics Home Reference
1924:10.1126/science.1079161
1485:) has Werner syndrome.
1222:considered for deletion
896:Other symptoms include
549:gastroesophageal reflux
543:, an increased risk of
194:reactive oxygen species
112:Examples of PS include
6381:Dyskeratosis congenita
6361:Baller–Gerold syndrome
6335:Restrictive dermopathy
6290:NER protein-associated
4872:10.4161/cc.10.15.16531
4575:10.1074/jbc.R600033200
3851:Nature Reviews. Cancer
3559:10.1073/pnas.072068399
3125:10.1093/hmg/10.22.2539
2422:10.1073/pnas.100448097
2243:10.1101/gad.13.11.1355
1701:Advances in Biophysics
1511:Dyskeratosis congenita
1428:. In the visual novel
1386:Literature and Theatre
1158:Restrictive dermopathy
1153:Restrictive dermopathy
1147:Restrictive dermopathy
1031:
988:restrictive dermopathy
972:
738:
689:pigmentary retinopathy
576:Bloom syndrome protein
361:cardiovascular disease
334:
240:Cockayne syndrome (CS)
146:restrictive dermopathy
44:) are a group of rare
6386:Ataxia telangiectasia
6303:Xeroderma pigmentosum
6150:Pediatric Dermatology
5845:Entertainment Tonight
5786:. MSN. Archived from
5523:Toriello, HV (1990).
5273:10.1083/jcb.200611026
4728:Physiological Reviews
4463:Pediatric Dermatology
3626:John Wiley & Sons
2849:10.1073/pnas.86.2.670
2610:10.1089/gte.2007.0119
2052:10.1684/ejd.2007.0155
1613:10.1083/jcb.201207072
1475:), who has progeria.
1417:Moonlight Bay Trilogy
1271:abnormal hair pattern
1263:inward-folded eyelids
1017:
969:
934:placental development
851:translesion synthesis
748:Xeroderma pigmentosum
743:Xeroderma pigmentosum
732:
725:Xeroderma pigmentosum
618:Further information:
541:learning disabilities
410:, leading to reduced
326:
172:Defects in DNA repair
138:xeroderma pigmentosum
130:xeroderma pigmentosum
6351:Li–Fraumeni syndrome
6043:10.1093/emboj/cdg489
5541:10.1136/jmg.27.4.256
5492:10.1136/jmg.34.5.433
5156:10.1002/ajmg.a.36449
5144:Am. J. Med. Genet. A
5056:10.1002/ajmg.a.36157
5044:Am. J. Med. Genet. A
5009:10.1002/ajmg.a.33690
4667:Toth, J. I. (2005).
4407:10.1002/ajmg.a.31346
4168:10.1002/ajmg.a.32902
3628:. 28 November 2011.
3444:10.1002/ajmg.a.30087
3147:Lehmann, AR (2001).
1753:10.1093/hmg/10.7.741
1523:Li–Fraumeni syndrome
1448:David Lindsay-Abaire
1393:'s 1922 short story
1365:motivational speaker
962:Defects in Lamin A/C
889:and will have a low
629:base excision repair
382:(wasting away) with
231:Werner syndrome (WS)
198:intercalating agents
6439:Progeroid syndromes
6356:Rapadilino syndrome
6308:Trichothiodystrophy
6245:Progeroid syndromes
5790:on 20 December 2013
5780:"Race Against Time"
4685:2005PNAS..10212873T
4679:(36): 12873–12878.
4626:2004PNAS..101.8963G
4283:10.1038/nature01629
4275:2003Natur.423..293E
3550:2002PNAS...99.4239L
3532:Lee, K.-B. (2002).
3491:1996PNAS...9311586B
3352:2005MRFMM.577..179A
3278:"Cockayne syndrome"
3202:2005MRFMM.577..179A
2840:1989PNAS...86..670L
2791:10.1101/gad.1732808
2742:10.1101/gad.1725108
2693:10.1101/gad.1708608
2526:10.1042/BST20051456
2413:2000PNAS...97.6504K
2354:1989PNAS...86.5893F
1707:(Complete): 45–64.
1391:F. Scott Fitzgerald
1319:signal transduction
1290:autosomal recessive
1267:loss of fat tissues
868:Trichothiodystrophy
863:Trichothiodystrophy
857:Trichothiodystrophy
633:DNA mismatch repair
392:loss of fat tissues
348:autosomal recessive
288:genomic instability
234:Bloom syndrome (BS)
134:trichothiodystrophy
84:progeroid syndrome,
79:Parkinson's disease
75:Alzheimer's disease
38:Progeroid syndromes
5973:Singh, V. (2010).
5875:. Huffington Post.
5682:10.1111/acel.13268
5198:Eur. J. Med. Genet
4969:10.1093/hmg/ddh265
4788:10.1093/hmg/ddl172
4332:Collins, Francis.
4040:10.1093/hmg/ddp390
3166:10.1101/gad.859501
2640:DNA Repair (Amst.)
2566:10.1002/humu.20501
2194:10.1002/humu.20337
1978:10.1038/ng0997-100
1674:10.1093/hmg/ddl214
1323:membrane receptors
1045:autosomal dominant
1032:
973:
739:
335:
251:RecQ-associated PS
57:progeroid syndrome
6454:Genetic syndromes
6426:
6425:
6396:PIBI(D)S syndrome
6391:De Barsy syndrome
6316:
6315:
6298:Cockayne syndrome
5739:10.1111/bcp.12928
5003:(11): 2749–2755.
4997:Am. J. Med. Genet
4068:Clinical Genetics
4008:10.1071/AR9921337
3743:978-0-387-09598-1
3340:Mutation Research
2315:10.1159/000131596
2013:"Werner syndrome"
1958:Martin, George M.
1446:, a 2000 play by
1288:Classified as an
998:, by acting as a
715:RNA polymerase II
677:failure to thrive
666:Cockayne syndrome
661:Cockayne syndrome
655:Cockayne syndrome
644:neurodegeneration
596:sister chromatids
436:loss of bone mass
178:genetic mutations
142:Cockayne syndrome
126:Cockayne syndrome
46:genetic disorders
16:(Redirected from
6466:
6258:
6238:
6231:
6224:
6215:
6181:
6144:
6134:
6101:
6070:The FEBS Journal
6064:
6054:
6037:(19): 5293–303.
6031:The EMBO Journal
6013:
6012:
5994:
5970:
5964:
5963:
5927:
5921:
5920:
5918:
5916:
5905:
5899:
5898:
5896:
5894:
5883:
5877:
5876:
5868:
5862:
5861:
5859:
5857:
5836:
5830:
5829:
5827:
5825:
5806:
5800:
5799:
5797:
5795:
5775:
5769:
5768:
5758:
5733:(5): 1229–1244.
5718:
5712:
5711:
5701:
5661:
5655:
5654:
5644:
5604:
5598:
5597:
5569:
5563:
5562:
5552:
5520:
5514:
5513:
5503:
5471:
5465:
5464:
5462:
5460:
5446:
5437:
5436:
5434:
5432:
5427:on 27 March 2013
5423:. Archived from
5413:
5407:
5406:
5404:
5392:
5386:
5385:
5383:
5371:
5365:
5364:
5362:
5350:
5344:
5343:
5333:
5301:
5295:
5294:
5284:
5252:
5246:
5245:
5243:
5242:
5228:
5222:
5221:
5192:
5186:
5185:
5167:
5135:
5129:
5128:
5118:
5085:
5076:
5075:
5038:
5029:
5028:
4991:
4982:
4981:
4971:
4962:(20): 2493–503.
4947:
4938:
4937:
4900:
4894:
4893:
4883:
4851:
4845:
4844:
4807:
4801:
4800:
4790:
4766:
4760:
4759:
4723:
4717:
4716:
4706:
4696:
4664:
4658:
4657:
4647:
4637:
4605:
4596:
4595:
4577:
4553:
4544:
4543:
4525:
4501:
4495:
4494:
4458:
4452:
4451:
4449:
4447:
4433:
4427:
4426:
4400:
4380:
4374:
4373:
4371:
4369:
4355:
4346:
4345:
4343:
4341:
4329:
4323:
4322:
4304:
4294:
4254:
4241:
4240:
4222:
4198:
4189:
4188:
4170:
4146:
4137:
4136:
4108:
4102:
4101:
4091:
4059:
4053:
4052:
4042:
4018:
4012:
4011:
3991:
3985:
3984:
3948:
3935:
3934:
3924:
3892:
3883:
3882:
3846:
3840:
3839:
3811:
3805:
3804:
3794:
3762:
3756:
3755:
3721:
3715:
3714:
3686:
3677:
3676:
3674:
3672:
3657:
3651:
3650:
3644:
3642:
3616:
3610:
3609:
3588:
3582:
3581:
3571:
3561:
3544:(7): 4239–4244.
3529:
3523:
3522:
3512:
3502:
3485:(21): 11586–90.
3470:
3464:
3463:
3427:
3421:
3420:
3410:
3378:
3372:
3371:
3335:
3329:
3328:
3300:
3294:
3293:
3291:
3289:
3274:
3263:
3262:
3233:
3222:
3221:
3185:
3179:
3178:
3168:
3144:
3138:
3137:
3127:
3103:
3097:
3096:
3078:
3054:
3048:
3047:
3037:
3005:
2999:
2998:
2970:
2964:
2963:
2927:
2921:
2920:
2910:
2878:
2872:
2871:
2861:
2851:
2819:
2813:
2812:
2802:
2770:
2764:
2763:
2753:
2721:
2715:
2714:
2704:
2672:
2666:
2665:
2655:
2631:
2622:
2621:
2593:
2587:
2586:
2568:
2544:
2538:
2537:
2520:(Pt 6): 1456–9.
2511:
2502:
2496:
2495:
2493:
2491:
2481:"Bloom syndrome"
2477:
2471:
2470:
2468:
2466:
2455:"Bloom syndrome"
2451:
2445:
2444:
2434:
2424:
2392:
2386:
2385:
2375:
2365:
2333:
2327:
2326:
2298:
2292:
2291:
2271:
2265:
2264:
2254:
2222:
2216:
2215:
2205:
2173:
2164:
2163:
2143:
2137:
2131:
2122:
2121:
2111:
2087:
2078:
2077:
2071:
2063:
2034:
2028:
2027:
2025:
2023:
2009:
1998:
1997:
1953:
1944:
1943:
1918:(5611): 1355–9.
1907:
1896:
1895:
1877:
1845:
1839:
1838:
1802:
1793:
1792:
1772:
1766:
1765:
1755:
1731:
1725:
1724:
1696:
1687:
1686:
1676:
1656:
1635:
1634:
1624:
1592:
1586:
1585:
1575:
1560:Indian J Med Res
1551:
1473:Amitabh Bachchan
1382:about Sørensen.
1361:Lizzie Velásquez
1355:classic progeria
1292:defect, but the
1253:, also known as
1225:
1018:Girl with HGPS (
1004:nuclear envelope
1000:scaffold protein
533:photosensitivity
521:Ashkenazi Jewish
420:arteriosclerosis
136:(TTD), combined
21:
6474:
6473:
6469:
6468:
6467:
6465:
6464:
6463:
6429:
6428:
6427:
6422:
6410:
6339:
6312:
6284:
6270:Werner syndrome
6262:RecQ-associated
6247:
6242:
6188:
6147:
6104:
6067:
6024:
6021:
6019:Further reading
6016:
5972:
5971:
5967:
5929:
5928:
5924:
5914:
5912:
5907:
5906:
5902:
5892:
5890:
5885:
5884:
5880:
5870:
5869:
5865:
5855:
5853:
5852:on June 8, 2014
5838:
5837:
5833:
5823:
5821:
5820:on 30 June 2010
5808:
5807:
5803:
5793:
5791:
5777:
5776:
5772:
5720:
5719:
5715:
5663:
5662:
5658:
5606:
5605:
5601:
5571:
5570:
5566:
5522:
5521:
5517:
5473:
5472:
5468:
5458:
5456:
5448:
5447:
5440:
5430:
5428:
5415:
5414:
5410:
5394:
5393:
5389:
5373:
5372:
5368:
5352:
5351:
5347:
5303:
5302:
5298:
5254:
5253:
5249:
5240:
5238:
5230:
5229:
5225:
5194:
5193:
5189:
5137:
5136:
5132:
5087:
5086:
5079:
5050:(12): 3057–62.
5040:
5039:
5032:
4993:
4992:
4985:
4949:
4948:
4941:
4902:
4901:
4897:
4866:(15): 2549–60.
4853:
4852:
4848:
4809:
4808:
4804:
4781:(16): 2509–22.
4768:
4767:
4763:
4734:(3): 967–1008.
4725:
4724:
4720:
4666:
4665:
4661:
4607:
4606:
4599:
4568:(52): 39741–5.
4555:
4554:
4547:
4503:
4502:
4498:
4460:
4459:
4455:
4445:
4443:
4435:
4434:
4430:
4398:10.1.1.333.3746
4391:(23): 2603–24.
4382:
4381:
4377:
4367:
4365:
4357:
4356:
4349:
4339:
4337:
4331:
4330:
4326:
4269:(6937): 293–8.
4256:
4255:
4244:
4200:
4199:
4192:
4148:
4147:
4140:
4110:
4109:
4105:
4061:
4060:
4056:
4033:(R2): R224–30.
4020:
4019:
4015:
3993:
3992:
3988:
3950:
3949:
3938:
3894:
3893:
3886:
3863:10.1038/nrc1652
3848:
3847:
3843:
3813:
3812:
3808:
3764:
3763:
3759:
3744:
3723:
3722:
3718:
3688:
3687:
3680:
3670:
3668:
3659:
3658:
3654:
3640:
3638:
3636:
3618:
3617:
3613:
3590:
3589:
3585:
3531:
3530:
3526:
3472:
3471:
3467:
3429:
3428:
3424:
3380:
3379:
3375:
3346:(1–2): 179–94.
3337:
3336:
3332:
3302:
3301:
3297:
3287:
3285:
3276:
3275:
3266:
3235:
3234:
3225:
3196:(1–2): 179–94.
3187:
3186:
3182:
3146:
3145:
3141:
3118:(22): 2539–47.
3105:
3104:
3100:
3056:
3055:
3051:
3007:
3006:
3002:
2981:(11): 1101–11.
2972:
2971:
2967:
2944:10.1038/nrg2663
2929:
2928:
2924:
2880:
2879:
2875:
2821:
2820:
2816:
2785:(20): 2737–42.
2772:
2771:
2767:
2736:(20): 2856–68.
2723:
2722:
2718:
2687:(20): 2843–55.
2674:
2673:
2669:
2633:
2632:
2625:
2598:Genetic Testing
2595:
2594:
2590:
2546:
2545:
2541:
2509:
2504:
2503:
2499:
2489:
2487:
2479:
2478:
2474:
2464:
2462:
2453:
2452:
2448:
2394:
2393:
2389:
2335:
2334:
2330:
2300:
2299:
2295:
2273:
2272:
2268:
2237:(11): 1355–60.
2224:
2223:
2219:
2175:
2174:
2167:
2145:
2144:
2140:
2132:
2125:
2089:
2088:
2081:
2064:
2036:
2035:
2031:
2021:
2019:
2011:
2010:
2001:
1966:Nature Genetics
1955:
1954:
1947:
1909:
1908:
1899:
1860:(17): 2306–22.
1847:
1846:
1842:
1813:(7–8): 425–40.
1804:
1803:
1796:
1783:(12): 1513–30.
1774:
1773:
1769:
1733:
1732:
1728:
1698:
1697:
1690:
1658:
1657:
1638:
1594:
1593:
1589:
1553:
1552:
1548:
1544:
1501:
1464:
1443:Kimberly Akimbo
1426:Scarlett Thomas
1402:Charles Dickens
1388:
1363:is an American
1348:
1343:
1335:
1311:
1302:
1286:
1246:
1241:
1232:
1210:
1193:
1191:Defects in FBN1
1155:
1149:
1105:metalloprotease
1092:or LaminAΔ50).
1038:
1012:
981:
964:
865:
859:
798:also increase.
745:
727:
663:
657:
622:
616:
514:
508:
459:DNA replication
432:type 2 diabetes
428:atherosclerosis
400:Achilles tendon
346:(WS) is a rare
344:Werner syndrome
341:
339:Werner syndrome
321:
319:Werner syndrome
271:is a family of
263:
253:
174:
114:Werner syndrome
35:
28:
23:
22:
15:
12:
11:
5:
6472:
6470:
6462:
6461:
6456:
6451:
6446:
6444:Rare syndromes
6441:
6431:
6430:
6424:
6423:
6415:
6412:
6411:
6409:
6408:
6403:
6398:
6393:
6388:
6383:
6378:
6376:Fanconi anemia
6373:
6368:
6363:
6358:
6353:
6347:
6345:
6341:
6340:
6338:
6337:
6332:
6326:
6324:
6318:
6317:
6314:
6313:
6311:
6310:
6305:
6300:
6294:
6292:
6286:
6285:
6283:
6282:
6277:
6275:Bloom syndrome
6272:
6266:
6264:
6255:
6249:
6248:
6243:
6241:
6240:
6233:
6226:
6218:
6212:
6211:
6205:
6195:
6187:
6186:External links
6184:
6183:
6182:
6145:
6111:Biogerontology
6102:
6065:
6020:
6017:
6015:
6014:
5965:
5922:
5900:
5878:
5863:
5831:
5801:
5770:
5713:
5676:(12): e13268.
5656:
5599:
5564:
5515:
5466:
5438:
5408:
5387:
5366:
5345:
5310:Ageing Res Rev
5296:
5267:(7): 1061–71.
5247:
5223:
5204:(5): 230–234.
5187:
5130:
5077:
5030:
4983:
4939:
4918:10.1038/nm1266
4895:
4846:
4819:(6): 1308–14.
4802:
4761:
4718:
4659:
4620:(24): 8963–8.
4597:
4545:
4516:(5628): 2055.
4496:
4453:
4428:
4375:
4347:
4324:
4242:
4213:(5628): 2055.
4190:
4161:(9): 2020–30.
4138:
4103:
4054:
4013:
3986:
3936:
3907:(10): 609–21.
3884:
3841:
3822:(8): 1018–21.
3806:
3777:(4): 1388–96.
3757:
3742:
3716:
3678:
3652:
3635:978-1118292402
3634:
3611:
3583:
3524:
3465:
3422:
3373:
3330:
3295:
3264:
3223:
3180:
3139:
3098:
3063:Human Mutation
3049:
3026:10.1086/321295
3020:(2): 291–300.
3000:
2965:
2938:(11): 756–68.
2922:
2873:
2814:
2765:
2716:
2667:
2623:
2588:
2553:Human Mutation
2539:
2497:
2472:
2446:
2407:(12): 6504–8.
2387:
2348:(15): 5893–7.
2328:
2293:
2266:
2217:
2182:Human Mutation
2165:
2138:
2123:
2102:(3): 177–221.
2079:
2029:
1999:
1945:
1897:
1840:
1794:
1767:
1726:
1688:
1636:
1587:
1545:
1543:
1540:
1539:
1538:
1532:
1526:
1520:
1517:Fanconi anemia
1514:
1508:
1500:
1497:
1483:Robin Williams
1463:
1460:
1387:
1384:
1347:
1344:
1342:
1339:
1334:
1331:
1310:
1307:
1301:
1298:
1285:
1282:
1245:
1242:
1240:
1239:Unknown causes
1237:
1231:
1228:
1195:Patients with
1192:
1189:
1162:genodermatosis
1151:Main article:
1148:
1145:
1034:Main article:
1011:
1008:
963:
960:
883:HELLP syndrome
861:Main article:
858:
855:
741:Main article:
726:
723:
659:Main article:
656:
653:
615:
612:
517:Bloom syndrome
512:Bloom syndrome
510:Main article:
507:
506:Bloom syndrome
504:
500:translocations
440:telangiectasia
337:Main article:
320:
317:
252:
249:
248:
247:
244:
241:
238:
235:
232:
173:
170:
118:Bloom syndrome
26:
24:
14:
13:
10:
9:
6:
4:
3:
2:
6471:
6460:
6457:
6455:
6452:
6450:
6447:
6445:
6442:
6440:
6437:
6436:
6434:
6421:
6420:
6413:
6407:
6404:
6402:
6401:BIDS syndrome
6399:
6397:
6394:
6392:
6389:
6387:
6384:
6382:
6379:
6377:
6374:
6372:
6369:
6367:
6364:
6362:
6359:
6357:
6354:
6352:
6349:
6348:
6346:
6342:
6336:
6333:
6331:
6328:
6327:
6325:
6323:
6319:
6309:
6306:
6304:
6301:
6299:
6296:
6295:
6293:
6291:
6287:
6281:
6278:
6276:
6273:
6271:
6268:
6267:
6265:
6263:
6259:
6256:
6254:
6250:
6246:
6239:
6234:
6232:
6227:
6225:
6220:
6219:
6216:
6209:
6206:
6203:
6199:
6196:
6193:
6190:
6189:
6185:
6179:
6175:
6171:
6167:
6163:
6159:
6156:(6): 538–40.
6155:
6151:
6146:
6142:
6138:
6133:
6128:
6124:
6120:
6117:(3): 235–52.
6116:
6112:
6108:
6103:
6099:
6095:
6091:
6087:
6083:
6079:
6076:(8): 1600–8.
6075:
6071:
6066:
6062:
6058:
6053:
6048:
6044:
6040:
6036:
6032:
6028:
6023:
6022:
6018:
6010:
6006:
6002:
5998:
5993:
5988:
5984:
5980:
5976:
5969:
5966:
5961:
5957:
5953:
5949:
5945:
5941:
5938:(10): 873–6.
5937:
5933:
5926:
5923:
5910:
5904:
5901:
5888:
5882:
5879:
5874:
5867:
5864:
5851:
5847:
5846:
5841:
5835:
5832:
5819:
5815:
5814:The Telegraph
5811:
5805:
5802:
5789:
5785:
5781:
5778:Brown, Tara.
5774:
5771:
5766:
5762:
5757:
5752:
5748:
5744:
5740:
5736:
5732:
5728:
5724:
5717:
5714:
5709:
5705:
5700:
5695:
5691:
5687:
5683:
5679:
5675:
5671:
5667:
5660:
5657:
5652:
5648:
5643:
5638:
5634:
5630:
5626:
5622:
5618:
5614:
5610:
5603:
5600:
5595:
5591:
5587:
5583:
5580:(5): 947–60.
5579:
5575:
5568:
5565:
5560:
5556:
5551:
5546:
5542:
5538:
5534:
5530:
5526:
5519:
5516:
5511:
5507:
5502:
5497:
5493:
5489:
5485:
5481:
5477:
5470:
5467:
5455:
5451:
5445:
5443:
5439:
5426:
5422:
5418:
5412:
5409:
5403:
5398:
5391:
5388:
5382:
5377:
5370:
5367:
5361:
5356:
5349:
5346:
5341:
5337:
5332:
5327:
5323:
5319:
5315:
5311:
5307:
5300:
5297:
5292:
5288:
5283:
5278:
5274:
5270:
5266:
5262:
5258:
5251:
5248:
5237:
5233:
5227:
5224:
5219:
5215:
5211:
5207:
5203:
5199:
5191:
5188:
5183:
5179:
5175:
5171:
5166:
5161:
5157:
5153:
5150:(5): 1341–5.
5149:
5145:
5141:
5134:
5131:
5126:
5122:
5117:
5112:
5108:
5104:
5101:(3): 566–79.
5100:
5096:
5092:
5084:
5082:
5078:
5073:
5069:
5065:
5061:
5057:
5053:
5049:
5045:
5037:
5035:
5031:
5026:
5022:
5018:
5014:
5010:
5006:
5002:
4998:
4990:
4988:
4984:
4979:
4975:
4970:
4965:
4961:
4957:
4953:
4946:
4944:
4940:
4935:
4931:
4927:
4923:
4919:
4915:
4911:
4907:
4899:
4896:
4891:
4887:
4882:
4877:
4873:
4869:
4865:
4861:
4857:
4850:
4847:
4842:
4838:
4834:
4830:
4826:
4822:
4818:
4814:
4806:
4803:
4798:
4794:
4789:
4784:
4780:
4776:
4772:
4765:
4762:
4757:
4753:
4749:
4745:
4741:
4737:
4733:
4729:
4722:
4719:
4714:
4710:
4705:
4700:
4695:
4690:
4686:
4682:
4678:
4674:
4670:
4663:
4660:
4655:
4651:
4646:
4641:
4636:
4631:
4627:
4623:
4619:
4615:
4611:
4604:
4602:
4598:
4593:
4589:
4585:
4581:
4576:
4571:
4567:
4563:
4559:
4552:
4550:
4546:
4541:
4537:
4533:
4529:
4524:
4519:
4515:
4511:
4507:
4500:
4497:
4492:
4488:
4484:
4480:
4476:
4472:
4468:
4464:
4457:
4454:
4442:
4438:
4432:
4429:
4424:
4420:
4416:
4412:
4408:
4404:
4399:
4394:
4390:
4386:
4379:
4376:
4364:
4360:
4354:
4352:
4348:
4335:
4328:
4325:
4320:
4316:
4312:
4308:
4303:
4298:
4293:
4292:2027.42/62684
4288:
4284:
4280:
4276:
4272:
4268:
4264:
4260:
4253:
4251:
4249:
4247:
4243:
4238:
4234:
4230:
4226:
4221:
4216:
4212:
4208:
4204:
4197:
4195:
4191:
4186:
4182:
4178:
4174:
4169:
4164:
4160:
4156:
4152:
4145:
4143:
4139:
4134:
4130:
4126:
4122:
4118:
4114:
4107:
4104:
4099:
4095:
4090:
4085:
4081:
4077:
4074:(4): 365–73.
4073:
4069:
4065:
4058:
4055:
4050:
4046:
4041:
4036:
4032:
4028:
4024:
4017:
4014:
4009:
4005:
4001:
3997:
3990:
3987:
3982:
3978:
3974:
3970:
3966:
3962:
3958:
3954:
3947:
3945:
3943:
3941:
3937:
3932:
3928:
3923:
3918:
3914:
3910:
3906:
3902:
3898:
3891:
3889:
3885:
3880:
3876:
3872:
3868:
3864:
3860:
3857:(7): 564–73.
3856:
3852:
3845:
3842:
3837:
3833:
3829:
3825:
3821:
3817:
3810:
3807:
3802:
3798:
3793:
3788:
3784:
3780:
3776:
3772:
3768:
3761:
3758:
3753:
3749:
3745:
3739:
3735:
3731:
3727:
3720:
3717:
3712:
3708:
3704:
3700:
3697:(2): 241–50.
3696:
3692:
3685:
3683:
3679:
3666:
3662:
3656:
3653:
3649:
3637:
3631:
3627:
3623:
3622:
3615:
3612:
3607:
3603:
3599:
3595:
3587:
3584:
3579:
3575:
3570:
3565:
3560:
3555:
3551:
3547:
3543:
3539:
3535:
3528:
3525:
3520:
3516:
3511:
3506:
3501:
3496:
3492:
3488:
3484:
3480:
3476:
3469:
3466:
3461:
3457:
3453:
3449:
3445:
3441:
3437:
3433:
3426:
3423:
3418:
3414:
3409:
3404:
3400:
3396:
3393:(2): 178–82.
3392:
3388:
3384:
3377:
3374:
3369:
3365:
3361:
3357:
3353:
3349:
3345:
3341:
3334:
3331:
3326:
3322:
3318:
3314:
3310:
3306:
3299:
3296:
3283:
3279:
3273:
3271:
3269:
3265:
3260:
3256:
3252:
3248:
3245:(5): 744–50.
3244:
3240:
3232:
3230:
3228:
3224:
3219:
3215:
3211:
3207:
3203:
3199:
3195:
3191:
3184:
3181:
3176:
3172:
3167:
3162:
3158:
3154:
3150:
3143:
3140:
3135:
3131:
3126:
3121:
3117:
3113:
3109:
3102:
3099:
3094:
3090:
3086:
3082:
3077:
3072:
3068:
3064:
3060:
3053:
3050:
3045:
3041:
3036:
3031:
3027:
3023:
3019:
3015:
3011:
3004:
3001:
2996:
2992:
2988:
2984:
2980:
2976:
2969:
2966:
2961:
2957:
2953:
2949:
2945:
2941:
2937:
2933:
2926:
2923:
2918:
2914:
2909:
2904:
2900:
2896:
2892:
2888:
2884:
2877:
2874:
2869:
2865:
2860:
2855:
2850:
2845:
2841:
2837:
2833:
2829:
2825:
2818:
2815:
2810:
2806:
2801:
2796:
2792:
2788:
2784:
2780:
2776:
2769:
2766:
2761:
2757:
2752:
2747:
2743:
2739:
2735:
2731:
2727:
2720:
2717:
2712:
2708:
2703:
2698:
2694:
2690:
2686:
2682:
2678:
2671:
2668:
2663:
2659:
2654:
2649:
2645:
2641:
2637:
2630:
2628:
2624:
2619:
2615:
2611:
2607:
2604:(2): 257–61.
2603:
2599:
2592:
2589:
2584:
2580:
2576:
2572:
2567:
2562:
2559:(8): 743–53.
2558:
2554:
2550:
2543:
2540:
2535:
2531:
2527:
2523:
2519:
2515:
2508:
2501:
2498:
2486:
2482:
2476:
2473:
2460:
2456:
2450:
2447:
2442:
2438:
2433:
2428:
2423:
2418:
2414:
2410:
2406:
2402:
2398:
2391:
2388:
2383:
2379:
2374:
2369:
2364:
2359:
2355:
2351:
2347:
2343:
2339:
2332:
2329:
2324:
2320:
2316:
2312:
2309:(2): 92–107.
2308:
2304:
2297:
2294:
2289:
2285:
2281:
2277:
2270:
2267:
2262:
2258:
2253:
2248:
2244:
2240:
2236:
2232:
2228:
2221:
2218:
2213:
2209:
2204:
2199:
2195:
2191:
2188:(6): 558–67.
2187:
2183:
2179:
2172:
2170:
2166:
2161:
2157:
2154:(4): 239–46.
2153:
2149:
2142:
2139:
2136:
2130:
2128:
2124:
2119:
2115:
2110:
2105:
2101:
2097:
2093:
2086:
2084:
2080:
2075:
2069:
2061:
2057:
2053:
2049:
2045:
2041:
2033:
2030:
2018:
2014:
2008:
2006:
2004:
2000:
1995:
1991:
1987:
1983:
1979:
1975:
1971:
1967:
1963:
1962:Oshima, Junko
1959:
1952:
1950:
1946:
1941:
1937:
1933:
1929:
1925:
1921:
1917:
1913:
1906:
1904:
1902:
1898:
1893:
1889:
1885:
1881:
1876:
1871:
1867:
1863:
1859:
1855:
1851:
1844:
1841:
1836:
1832:
1828:
1824:
1820:
1816:
1812:
1808:
1801:
1799:
1795:
1790:
1786:
1782:
1778:
1771:
1768:
1763:
1759:
1754:
1749:
1745:
1741:
1737:
1730:
1727:
1722:
1718:
1714:
1710:
1706:
1702:
1695:
1693:
1689:
1684:
1680:
1675:
1670:
1666:
1662:
1655:
1653:
1651:
1649:
1647:
1645:
1643:
1641:
1637:
1632:
1628:
1623:
1618:
1614:
1610:
1606:
1602:
1598:
1591:
1588:
1583:
1579:
1574:
1569:
1566:(5): 667–74.
1565:
1561:
1557:
1550:
1547:
1541:
1536:
1533:
1530:
1527:
1524:
1521:
1518:
1515:
1512:
1509:
1506:
1503:
1502:
1498:
1496:
1494:
1490:
1489:
1488:Taiyou no Uta
1484:
1480:
1479:
1474:
1470:
1469:
1461:
1459:
1457:
1453:
1449:
1445:
1444:
1439:
1438:
1433:
1432:
1427:
1423:
1419:
1418:
1413:
1409:
1408:
1403:
1398:
1397:
1392:
1385:
1383:
1381:
1377:
1373:
1368:
1366:
1362:
1358:
1356:
1352:
1351:Hayley Okines
1345:
1340:
1338:
1332:
1330:
1328:
1324:
1320:
1316:
1315:animal models
1309:Animal models
1308:
1306:
1299:
1297:
1295:
1291:
1283:
1281:
1278:
1276:
1272:
1268:
1264:
1258:
1256:
1252:
1251:
1243:
1238:
1236:
1229:
1227:
1223:
1219:
1218:
1214:
1208:
1207:
1202:
1198:
1190:
1188:
1186:
1182:
1178:
1173:
1171:
1167:
1163:
1159:
1154:
1146:
1144:
1142:
1137:
1134:(HR). A-type
1133:
1129:
1124:
1122:
1117:
1112:
1108:
1106:
1102:
1098:
1093:
1091:
1087:
1083:
1079:
1075:
1070:
1067:
1063:
1059:
1055:
1049:
1046:
1042:
1037:
1029:
1025:
1021:
1016:
1009:
1007:
1005:
1001:
997:
993:
989:
985:
980:
975:
968:
961:
959:
957:
953:
949:
944:
943:
937:
935:
931:
927:
926:
921:
917:
912:
910:
906:
903:
899:
894:
892:
888:
884:
880:
875:
873:
869:
864:
856:
854:
852:
848:
847:
842:
841:
836:
835:
830:
829:
824:
823:
818:
817:
812:
811:
806:
805:
799:
797:
793:
789:
785:
781:
777:
773:
769:
765:
761:
756:
753:
749:
744:
736:
731:
724:
722:
720:
716:
713:
709:
708:
703:
699:
698:
692:
690:
686:
682:
678:
674:
669:
667:
662:
654:
652:
649:
645:
640:
638:
634:
630:
626:
621:
613:
611:
609:
605:
601:
597:
593:
589:
585:
581:
577:
572:
570:
566:
562:
558:
554:
550:
546:
542:
538:
534:
528:
524:
522:
518:
513:
505:
503:
501:
497:
492:
490:
486:
482:
478:
474:
473:messenger RNA
471:
467:
462:
460:
456:
451:
449:
445:
441:
437:
433:
429:
425:
421:
417:
413:
409:
405:
401:
397:
393:
389:
385:
381:
377:
373:
369:
364:
362:
358:
354:
349:
345:
340:
332:
331:
325:
318:
316:
314:
308:
307:
305:
301:
297:
292:DNA helicases
291:
289:
285:
284:recombination
281:
277:
274:
269:
268:
262:
258:
257:RecQ helicase
250:
245:
242:
239:
236:
233:
230:
229:
228:
226:
222:
218:
213:
211:
207:
203:
199:
195:
191:
187:
183:
179:
171:
169:
167:
166:natural aging
163:
159:
155:
151:
147:
143:
139:
135:
131:
127:
123:
119:
115:
110:
108:
104:
100:
96:
92:
87:
85:
80:
77:and familial
76:
72:
68:
66:
62:
58:
54:
51:
50:physiological
47:
43:
39:
33:
19:
6416:
6244:
6153:
6149:
6114:
6110:
6073:
6069:
6034:
6030:
5982:
5978:
5968:
5935:
5931:
5925:
5913:. Retrieved
5911:. 2012-05-30
5903:
5891:. Retrieved
5889:. 2008-11-20
5881:
5866:
5854:. Retrieved
5850:the original
5843:
5834:
5822:. Retrieved
5818:the original
5813:
5804:
5792:. Retrieved
5788:the original
5783:
5773:
5730:
5726:
5716:
5673:
5669:
5659:
5616:
5612:
5602:
5577:
5573:
5567:
5535:(4): 256–7.
5532:
5528:
5518:
5486:(5): 433–7.
5483:
5479:
5469:
5457:. Retrieved
5453:
5429:. Retrieved
5425:the original
5420:
5411:
5390:
5369:
5348:
5313:
5309:
5299:
5264:
5260:
5250:
5239:. Retrieved
5235:
5226:
5201:
5197:
5190:
5147:
5143:
5133:
5098:
5094:
5047:
5043:
5000:
4996:
4959:
4955:
4912:(7): 780–5.
4909:
4905:
4898:
4863:
4859:
4849:
4816:
4812:
4805:
4778:
4774:
4764:
4731:
4727:
4721:
4676:
4672:
4662:
4617:
4613:
4565:
4561:
4513:
4509:
4499:
4469:(4): 282–5.
4466:
4462:
4456:
4444:. Retrieved
4440:
4431:
4388:
4384:
4378:
4366:. Retrieved
4362:
4338:. Retrieved
4327:
4266:
4262:
4210:
4206:
4158:
4154:
4116:
4112:
4106:
4071:
4067:
4057:
4030:
4026:
4016:
3999:
3995:
3989:
3956:
3952:
3904:
3900:
3854:
3850:
3844:
3819:
3815:
3809:
3774:
3771:Neuroscience
3770:
3760:
3725:
3719:
3694:
3690:
3669:. Retrieved
3664:
3655:
3646:
3639:. Retrieved
3620:
3614:
3600:(3): 683–9.
3597:
3593:
3586:
3541:
3537:
3527:
3482:
3478:
3468:
3438:(1): 67–71.
3435:
3431:
3425:
3390:
3386:
3376:
3343:
3339:
3333:
3311:(1): 68–84.
3308:
3304:
3298:
3286:. Retrieved
3281:
3242:
3238:
3193:
3189:
3183:
3159:(1): 15–23.
3156:
3152:
3142:
3115:
3111:
3101:
3066:
3062:
3052:
3017:
3013:
3003:
2978:
2974:
2968:
2935:
2931:
2925:
2893:(6): 610–8.
2890:
2886:
2876:
2834:(2): 670–4.
2831:
2827:
2817:
2782:
2778:
2768:
2733:
2729:
2719:
2684:
2680:
2670:
2643:
2639:
2601:
2597:
2591:
2556:
2552:
2542:
2517:
2513:
2500:
2488:. Retrieved
2484:
2475:
2463:. Retrieved
2458:
2449:
2404:
2400:
2390:
2345:
2341:
2331:
2306:
2302:
2296:
2282:(1): 86–92.
2279:
2275:
2269:
2234:
2230:
2220:
2185:
2181:
2151:
2147:
2141:
2099:
2095:
2068:cite journal
2046:(3): 213–6.
2043:
2039:
2032:
2020:. Retrieved
2016:
1972:(1): 100–3.
1969:
1965:
1915:
1911:
1857:
1853:
1843:
1810:
1806:
1780:
1776:
1770:
1746:(7): 741–6.
1743:
1739:
1729:
1704:
1700:
1664:
1604:
1600:
1590:
1563:
1559:
1549:
1486:
1476:
1466:
1465:
1441:
1435:
1429:
1421:
1415:
1405:
1395:
1389:
1369:
1359:
1349:
1336:
1312:
1303:
1287:
1279:
1259:
1254:
1249:
1247:
1233:
1215:
1204:
1194:
1174:
1169:
1165:
1157:
1156:
1125:
1120:
1115:
1113:
1109:
1094:
1077:
1073:
1071:
1054:micrognathia
1050:
1040:
1039:
1027:
1019:
991:
987:
983:
982:
974:
956:hypogonadism
951:
947:
940:
938:
923:
919:
915:
913:
895:
891:birth weight
881:and develop
876:
867:
866:
844:
838:
832:
826:
820:
814:
808:
802:
800:
788:brain tumors
757:
752:autochthonic
747:
746:
712:ubiquitinate
705:
701:
695:
693:
670:
665:
664:
641:
624:
623:
573:
529:
525:
516:
515:
493:
463:
452:
444:malignancies
414:; bilateral
376:beaked noses
365:
343:
342:
329:
328:
309:
293:
270:
266:
264:
214:
206:depurination
175:
154:regeneration
111:
97:of a single
88:
83:
70:
69:
56:
41:
37:
36:
5316:(1): 73–9.
5261:J Cell Biol
4441:MedlinePlus
4119:(1): 2–10.
4002:(6): 1337.
3069:(1): 9–22.
1607:(1): 9–13.
1601:J Cell Biol
1437:Chaos;Child
1412:Dean Koontz
1407:Bleak House
1376:Scandinavia
1275:dysmorphism
1181:vasculature
986:(HGPS) and
979:Laminopathy
887:prematurely
796:eye cancers
792:lung cancer
784:skin cancer
760:ultraviolet
685:tooth decay
631:(BER), and
565:infertility
551:(GER), and
470:transcribed
448:meningiomas
398:around the
396:ulcerations
384:scleroderma
363:or cancer.
278:-dependent
210:deamination
48:that mimic
6459:Senescence
6433:Categories
6417:See also:
6253:DNA repair
5985:(6): 571.
5784:60 Minutes
5670:Aging Cell
5402:1505.03905
5381:1503.07163
5241:2016-12-06
4860:Cell Cycle
4437:"Progeria"
4113:DNA Repair
3239:DNA Repair
2465:4 November
1542:References
1450:, and its
1431:Chaos;Head
1130:(NHEJ) or
1086:C-terminus
1066:fontanelle
1062:large head
902:congenital
898:scaly skin
774:, and the
719:proteasome
673:small head
637:DNA ligase
600:centromere
580:frameshift
477:translated
466:non-coding
424:calcinosis
357:adolescent
304:phenotypes
302:and aging
219:(RECQLs),
182:repair DNA
158:stem cells
148:(RD), and
103:DNA repair
32:Senescence
6322:Lamin A/C
6009:219232325
5979:Neurology
5856:March 22,
5747:1365-2125
5690:1474-9726
5633:1872-9649
5360:0904.0575
4393:CiteSeerX
4336:. TED.com
2975:Biochimie
2646:: 73–84.
1454:-winning
1422:Going Out
1294:pathology
1220:is being
1058:hair loss
905:cataracts
772:bloodshot
768:freckling
735:Guatemala
681:cutaneous
588:non-sense
569:menopause
489:apoptosis
416:cataracts
412:fertility
372:wrinkling
368:hair loss
280:helicases
273:conserved
202:radiation
144:(XP-CS),
107:lamin A/C
95:mutations
91:monogenic
71:Progeroid
6208:Orphanet
6178:39698691
6170:14651579
6141:19083132
6098:19820776
6090:16623697
6061:14517266
6001:20697111
5960:40615631
5952:19783794
5915:22 March
5893:22 March
5824:22 March
5794:21 March
5765:26952863
5708:33166073
5651:27507608
5619:: 3–17.
5594:15743670
5459:16 March
5454:Orphanet
5431:16 March
5340:17353153
5291:17371835
5236:omim.org
5218:24613577
5182:42280802
5174:24665001
5125:27087445
5072:22797418
5064:24039054
5025:26408208
5017:20979188
4978:15317753
4934:11798376
4926:15980864
4906:Nat. Med
4890:21701264
4841:25944330
4833:17459035
4797:16825282
4748:16816143
4713:16129834
4654:15184648
4592:27614400
4584:17090536
4540:33927803
4532:12702809
4491:20739447
4483:10990576
4446:16 March
4423:15692098
4415:16838330
4368:16 March
4340:22 March
4311:12714972
4302:10540076
4237:33927803
4229:12702809
4185:25663092
4177:19681155
4133:19931493
4098:20002457
4049:19808800
3981:26006150
3973:11369901
3931:18603627
3871:16069818
3801:17276014
3752:19181106
3671:20 March
3606:12579324
3578:11904382
3460:39634500
3452:15211661
3417:16428367
3368:16009385
3288:19 March
3259:18329345
3218:16009385
3175:11156600
3134:11709541
3093:24148589
3085:10447254
3044:11443545
2995:14726016
2952:19809470
2809:18923071
2760:18923083
2711:18923082
2662:27100209
2618:18471088
2583:44382072
2575:17407155
2534:16246145
2490:18 March
2441:10823897
2261:10364153
2212:16673358
2096:Medicine
2060:17478382
2022:18 March
1994:20587915
1932:12610296
1892:29287970
1884:17571213
1875:11136437
1827:18430459
1789:12496039
1762:11257107
1721:15493327
1683:16987878
1631:23027899
1582:25027075
1499:See also
1321:between
1213:template
1170:ZMPSTE24
1121:ZMPSTE24
1097:farnesol
1090:progerin
1064:, large
1036:Progeria
780:deafness
584:missense
545:diabetes
404:malleoli
313:mutagens
261:Helicase
61:progeria
6132:2713741
5756:5061804
5699:7744955
5642:5195851
5559:2325106
5550:1017029
5510:9152846
5501:1050956
5331:2896497
5282:2064089
5196:gene".
5165:7597435
5116:4852710
4881:3180193
4756:5609417
4704:1193538
4681:Bibcode
4622:Bibcode
4510:Science
4319:4420150
4271:Bibcode
4207:Science
4089:3463936
3922:3459585
3879:7414610
3836:8053698
3792:2288663
3711:3545087
3648:night."
3641:17 June
3546:Bibcode
3519:8876179
3487:Bibcode
3408:2082700
3348:Bibcode
3325:1308368
3198:Bibcode
3035:1235303
2960:2211460
2917:8063614
2908:5919530
2868:2911598
2836:Bibcode
2800:2751278
2751:2569884
2702:2569887
2409:Bibcode
2382:2762303
2350:Bibcode
2323:7273860
2288:5431223
2203:1868417
2160:8722214
2118:5327241
1986:9288107
1912:Science
1835:6804631
1622:3461511
1573:4140030
1372:Denmark
1313:Within
1226:
1078:de novo
996:nucleus
764:sunburn
651:genes.
537:dilated
496:culture
388:lesions
380:atrophy
378:, skin
353:puberty
296:mitosis
124:(RTS),
6176:
6168:
6139:
6129:
6096:
6088:
6059:
6052:204472
6049:
6007:
5999:
5958:
5950:
5763:
5753:
5745:
5706:
5696:
5688:
5649:
5639:
5631:
5592:
5557:
5547:
5508:
5498:
5338:
5328:
5289:
5279:
5216:
5180:
5172:
5162:
5123:
5113:
5070:
5062:
5023:
5015:
4976:
4932:
4924:
4888:
4878:
4839:
4831:
4795:
4754:
4746:
4711:
4701:
4652:
4645:428455
4642:
4590:
4582:
4538:
4530:
4489:
4481:
4421:
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