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DNA repair-deficiency disorder

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Mostoslavsky, R; Chua, KF; Lombard, DB; Pang, WW; Fischer, MR; Gellon, L; Liu, P; Mostoslavsky, G; Franco, S; Murphy, MM; Mills, KD; Patel, P; Hsu, JT; Hong, AL; Ford, E; Cheng, HL; Kennedy, C; Nunez, N; Bronson, R; Frendewey, D; Auerbach, W; Valenzuela, D; Karow, M; Hottiger, MO; Hursting, S;
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Vermeij WP, Dollé ME, Reiling E, Jaarsma D, Payan-Gomez C, Bombardieri CR, Wu H, Roks AJ, Botter SM, van der Eerden BC, Youssef SA, Kuiper RV, Nagarajah B, van Oostrom CT, Brandt RM, Barnhoorn S, Imholz S, Pennings JL, de Bruin A, Gyenis Á, Pothof J, Vijg J, van Steeg H, Hoeijmakers JH (2016).
639:—it is too lethal to display symptoms (much less symptoms of cancer or "accelerated aging"). Rothmund-Thomson syndrome and xeroderma pigmentosum display symptoms dominated by vulnerability to cancer, whereas progeria and Werner syndrome show the most features of "accelerated aging". 691:
are identifiable symptoms associated with mechanisms of molecular damage. The fact that these phenotypes are widely recognized justifies classification of the relevant diseases as "accelerated aging". Such conditions, it is argued, are readily distinguishable from
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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, López-Otín C, Tse HF, Hutchison C, Chen J, Cao Y, Cheah KS, Tryggvason K, Zhou Z (2005). "Genomic instability in laminopathy-based premature aging".
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is present in a DNA repair gene, the repair gene will either not be expressed or be expressed in an altered form. Then the repair function will likely be deficient, and, as a consequence, damages will tend to accumulate. Such DNA damages can cause errors during
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in which patients have segmental progeria with reduced stature, intellectual disability, cachexia (loss of subcutaneous fat tissue), sensorineural deafness, retinal degeneration, and calcification of the central nervous system; other mutations in ERCC2 cause
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mutations in ERCC4 cause symptoms of accelerated aging that affect the neurologic, hepatobiliary, musculoskeletal, and hematopoietic systems, and cause an old, wizened appearance, loss of subcutaneous fat, liver dysfunction, vision and hearing loss,
4781: 651:, but displays no symptoms of "accelerated aging". On the other hand, Cockayne Syndrome and trichothiodystrophy show mainly features of accelerated aging, but apparently without an increased risk of cancer Some DNA repair defects manifest as 5511: 667:
Some biogerontologists question that such a thing as "accelerated aging" actually exists, at least partly on the grounds that all of the so-called accelerated aging diseases are segmental progerias. Many disease conditions such as
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lack of Zmpste24 prevents lamin A formation and causes progeroid phenotypes in mice and humans, increased DNA damage and chromosome aberrations, sensitivity to DNA-damaging agents and deficiency in homologous recombination
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deletion of ATR in adult mice leads to a number of disorders including hair loss and graying, kyphosis, osteoporosis, premature involution of the thymus, fibrosis of the heart and kidney and decreased spermatogenesis
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Bernstein C, Bernstein H, Payne CM, Garewal H. DNA repair/pro-apoptotic dual-role proteins in five major DNA repair pathways: fail-safe protection against carcinogenesis. Mutat Res. 2002 Jun;511(2):145-78.
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Dollé ME, Kuiper RV, Roodbergen M, Robinson J, de Vlugt S, Wijnhoven SW, Beems RB, de la Fonteyne L, de With P, van der Pluijm I, Niedernhofer LJ, Hasty P, Vijg J, Hoeijmakers JH, van Steeg H (2011).
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mice defective in SIRT7 show phenotypic and molecular signs of accelerated aging such as premature pronounced curvature of the spine, reduced life span, and reduced non-homologous end joining
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Anbari KK, Ierardi-Curto LA, Silber JS, Asada N, Spinner N, Zackai EH, Belasco J, Morrissette JD, Dormans JP (2000). "Two primary osteosarcomas in a patient with Rothmund-Thomson syndrome".
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mice with deficient ERCC5 show loss of subcutaneous fat, kyphosis, osteoporosis, retinal photoreceptor loss, liver aging, extensive neurodegeneration, and a short lifespan of 4–5 months
5864: 5734: 3464:"Functional characterization connects individual patient mutations in ataxia telangiectasia mutated (ATM) with dysfunction of specific DNA double-strand break-repair signaling pathways" 5602: 5006: 5035: 5001: 1718:
Trego KS, Groesser T, Davalos AR, Parplys AC, Zhao W, Nelson MR, Hlaing A, Shih B, Rydberg B, Pluth JM, Tsai MS, Hoeijmakers JH, Sung P, Wiese C, Campisi J, Cooper PK (2016).
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in which patients have segmental progeria with brittle hair, short stature, progressive cognitive impairment and abnormal face shape; still other mutations in ERCC2 cause
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Lancaster JM, Powell CB, Chen LM, Richardson DL (2015). "Society of Gynecologic Oncology statement on risk assessment for inherited gynecologic cancer predispositions".
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Theil AF, Nonnekens J, Steurer B, Mari PO, de Wit J, Lemaitre C, Marteijn JA, Raams A, Maas A, Vermeij M, Essers J, Hoeijmakers JH, Giglia-Mari G, Vermeulen W (2013).
704:. It is further argued that segmental aging phenotype is a natural part of aging insofar as genetic variation leads to some people being more disposed than others to 561:
SIRT6-deficient mice develop profound lymphopenia, loss of subcutaneous fat and lordokyphosis, and these defects overlap with aging-associated degenerative processes
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Bartkova J, Tommiska J, Oplustilova L, Aaltonen K, Tamminen A, Heikkinen T, Mistrik M, AittomÀki K, Blomqvist C, HeikkilÀ P, Lukas J, Nevanlinna H, Bartek J (2008).
4937: 5438: 5744: 3606:"After double-strand break induction by UV-A, homologous recombination and nonhomologous end joining cooperate at the same DSB if both systems are available" 1622:"XPB and XPD helicases in TFIIH orchestrate DNA duplex opening and damage verification to coordinate repair with transcription and cell cycle via CAK kinase" 5389: 5250: 5030: 5025: 5015: 1816:
Weinfeld M, Xing JZ, Lee J, Leadon SA, Cooper PK, Le XC (2001). "Factors influencing the removal of thymine glycol from DNA in Îł-irradiated human cells".
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mutation in NRMT1 causes decreased body size, female-specific infertility, kyphosis, decreased mitochondrial function, and early-onset liver degeneration
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leading to mutations, some of which may give rise to cancer. Germ-line DNA repair mutations that increase the risk of cancer are listed in the Table.
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Peddi P, Loftin CW, Dickey JS, Hair JM, Burns KJ, Aziz K, Francisco DC, Panayiotidis MI, Sedelnikova OA, Bonner WM, Winters TA, Georgakilas AG (2010).
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mice are leukopenic and thrombocytopenic, and there is extensive adipose transformation of the bone marrow, hallmark features of normal aging in mice
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Reiling E, Dollé ME, Youssef SA, Lee M, Nagarajah B, Roodbergen M, de With P, de Bruin A, Hoeijmakers JH, Vijg J, van Steeg H, Hasty P (2014).
891: 210: 3647:"Aberrations of the MRE11-RAD50-NBS1 DNA damage sensor complex in human breast cancer: MRE11 as a candidate familial cancer-predisposing gene" 2229:
Gonzalo S, Kreienkamp R (2016). "Methods to Monitor DNA Repair Defects and Genomic Instability in the Context of a Disrupted Nuclear Lamina".
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Most of the DNA repair deficiency diseases show varying degrees of "accelerated aging" or cancer (often some of both). But elimination of any
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Vazquez BN, Thackray JK, Simonet NG, Kane-Goldsmith N, Martinez-Redondo P, Nguyen T, Bunting S, Vaquero A, Tischfield JA, Serrano L (2016).
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4235:"Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations" 1202:"Transcriptional and Posttranslational Regulation of Nucleotide Excision Repair: The Guardian of the Genome against Ultraviolet Radiation" 4991: 1936:
D'Errico M, Pascucci B, Iorio E, Van Houten B, Dogliotti E (2013). "The role of CSA and CSB protein in the oxidative stress response".
5809: 5754: 4739: 1769:"Nucleotide excision repair 3' endonuclease XPG stimulates the activity of base excision repair enzyme thymine glycol DNA glycosylase" 324: 3000: 5281: 5111: 5044: 4679: 1833: 17: 5298: 3976:"Cellular and molecular consequences of defective Fanconi anemia proteins in replication-coupled DNA repair: mechanistic insights" 5394: 4749: 3065:
Hasty P, Campisi J, Hoeijmakers J, van Steeg H, Vijg J (February 2003). "Aging and genome maintenance: lessons from the mouse?".
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Kanagaraj R, Parasuraman P, Mihaljevic B, van Loon B, Burdova K, König C, Furrer A, Bohr VA, HĂŒbscher U, Janscak P (2012).
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Ruzankina Y, Pinzon-Guzman C, Asare A, Ong T, Pontano L, Cotsarelis G, Zediak VP, Velez M, Bhandoola A, Brown EJ (2007).
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shorter lifespan, earlier onset of aging related pathologies; persistent foci of DNA double-strand break repair proteins
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with time-dependent accumulation of transcription-blocking damages; mouse life span reduced from 2.5 years to 5 months;)
5167: 4859: 3208: 5784: 5501: 5161: 5245: 5152: 1253:"Deletion of the developmentally essential gene ATR in adult mice leads to age-related phenotypes and stem cell loss" 1671:"Deficiency in the nuclease activity of xeroderma pigmentosum G in mice leads to hypersensitivity to UV irradiation" 886:
leukemia, lymphoma, colon, breast, skin, lung, auditory canal, tongue, esophagus, stomach, tonsil, larynx, uterus
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with accumulation of unrepaired DNA damages, also defective repair of oxidatively generated DNA damages including
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with accumulation of unrepaired DNA damages, also defective repair of oxidatively generated DNA damages including
5144: 4869: 705: 278: 93: 75: 5329: 5419: 5407: 5365: 5351: 5319: 5315: 5223: 5218: 5213: 5209: 5201: 5172: 4630: 2723:"The human Werner syndrome protein stimulates repair of oxidative DNA base damage by the DNA glycosylase NEIL1" 998: 819: 815: 789: 610: 586: 581: 552: 521: 481: 349: 320: 4131:"Nucleotide excision repair proteins rapidly accumulate but fail to persist in human XP-E (DDB2 mutant) cells" 5697: 5116: 5079: 4927: 2615:"DNA2 cooperates with the WRN and BLM RecQ helicases to mediate long-range DNA end resection in human cells" 1410:"DNA-PKcs deficiency leads to persistence of oxidatively induced clustered DNA lesions in human tumor cells" 5303: 5130: 5106: 4694: 5814: 5779: 5702: 5496: 5484: 5334: 5177: 4734: 4709: 4704: 4699: 4659: 4654: 3015: 713: 467:
shorter lifespan, earlier onset of aging related pathologies; defective repair of spontaneous DNA damage
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Viktorsson K, De Petris L, Lewensohn R (2005). "The role of p53 in treatment responses of lung cancer".
4390:"DNA damage responses: mechanisms and roles in human disease: 2007 G.H.A. Clowes Memorial Award Lecture" 2379:
Lu L, Jin W, Wang LL (2017). "Aging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders".
2282:"α-N-methylation of damaged DNA-binding protein 2 (DDB2) and its function in nucleotide excision repair" 986: 430:
deficiency causes trichothiodystrophy (TTD) a premature-ageing and neuroectodermal disease; humans with
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Direct role in HRR, BER, NER and acts in DNA damage response for those pathways and for NHEJ and MMR
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cause Rothmund-Thomson syndrome, with alopecia, sparse eyebrows and lashes, cataracts and osteoporosis
1981:"Disruption of TTDA results in complete nucleotide excision repair deficiency and embryonic lethality" 5669: 5571: 5089: 3707: 2677: 1527: 1362: 1165: 1146: 1089: 1012: 900: 684:
it is hard to support the claim that a disease condition represents more than accelerated mortality.
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shorter lifespan, earlier onset of aging related pathologies; higher level of DNA damage persistence
49: 5874: 5854: 5477: 5356: 4906: 4864: 4847: 4837: 4820: 4790: 3020: 2133:"DNA repair kinetics in SCID mice Sertoli cells and DNA-PKcs-deficient mouse embryonic fibroblasts" 1720:"Non-catalytic Roles for XPG with BRCA1 and BRCA2 in Homologous Recombination and Genome Stability" 1067: 701: 681: 648: 316: 298: 290: 250: 191: 183: 161: 2032:"Slowly progressing nucleotide excision repair in trichothiodystrophy group A patient fibroblasts" 5739: 5255: 4952: 4898: 4878: 4829: 4264: 4054: 3956: 3493: 3347: 3298: 3249: 3189: 3090: 2978: 2934: 2909:
Veith S, Mangerich A (2015). "RecQ helicases and PARP1 team up in maintaining genome integrity".
2497: 2447: 2404: 1961: 1851: 1138: 2333:"NRMT1 knockout mice exhibit phenotypes associated with impaired DNA repair and premature aging" 2084:"Deletion of Ku80 causes early aging independent of chronic inflammation and Rag-1-induced DSBs" 5859: 5764: 5724: 5646: 5521: 5465: 5399: 5064: 4593: 4544: 4495: 4446: 4411: 4370: 4316: 4256: 4212: 4160: 4108: 4046: 4005: 3948: 3913: 3864: 3815: 3776: 3735: 3676: 3627: 3586: 3532: 3485: 3441: 3406: 3339: 3290: 3269:"Accelerating aging by mouse reverse genetics: a rational approach to understanding longevity" 3241: 3181: 3131: 3082: 3033: 2970: 2926: 2891: 2842: 2813:"The Werner syndrome protein: linking the replication checkpoint response to genome stability" 2793: 2744: 2703: 2646: 2595: 2546: 2489: 2439: 2396: 2358: 2313: 2262: 2242: 2211: 2162: 2113: 2061: 2012: 1953: 1911: 1839: 1829: 1798: 1749: 1700: 1651: 1602: 1553: 1495: 1439: 1390: 1331: 1282: 1233: 659:" for a discussion of the evidence that DNA damage is the primary underlying cause of aging.) 652: 411: 383: 285: 140: 98: 38: 3755:"Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients" 5651: 5286: 5097: 5069: 4583: 4575: 4534: 4526: 4485: 4477: 4438: 4401: 4360: 4350: 4306: 4298: 4246: 4202: 4194: 4150: 4142: 4098: 4088: 4036: 3995: 3987: 3940: 3903: 3895: 3854: 3846: 3807: 3766: 3725: 3715: 3666: 3658: 3617: 3576: 3566: 3524: 3475: 3433: 3396: 3388: 3377:"Minding the gap: the underground functions of BRCA1 and BRCA2 at stalled replication forks" 3329: 3280: 3233: 3223: 3171: 3121: 3074: 3025: 2962: 2918: 2881: 2873: 2832: 2824: 2783: 2775: 2734: 2693: 2685: 2636: 2626: 2585: 2577: 2536: 2528: 2479: 2431: 2388: 2348: 2340: 2331:
Bonsignore LA, Tooley JG, Van Hoose PM, Wang E, Cheng A, Cole MP, Schaner Tooley CE (2015).
2303: 2293: 2252: 2234: 2201: 2193: 2152: 2144: 2103: 2095: 2051: 2043: 2002: 1992: 1945: 1901: 1893: 1821: 1788: 1780: 1739: 1731: 1690: 1682: 1641: 1633: 1592: 1584: 1543: 1535: 1485: 1477: 1429: 1421: 1380: 1370: 1321: 1313: 1272: 1264: 1223: 1213: 1175: 693: 435: 2666:"WRN regulates pathway choice between classical and alternative non-homologous end joining" 2182:"Deletion of Ku70, Ku80, or both causes early aging without substantially increased cancer" 1882:"Elements That Regulate the DNA Damage Response of Proteins Defective in Cockayne Syndrome" 1516:"Restricted diet delays accelerated ageing and genomic stress in DNA-repair-deficient mice" 5849: 5674: 5192: 3041: 1863: 1820:. Progress in Nucleic Acid Research and Molecular Biology. Vol. 68. pp. 139–49. 1818:
Factors influencing the removal of thymine glycol from DNA in gamma-irradiated human cells
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Table 1. DNA repair proteins that, when deficient, cause features of accelerated aging (
166: 102: 2764:"Involvement of Werner syndrome protein in MUTYH-mediated repair of oxidative DNA damage" 1302:"Shorter telomeres, accelerated ageing and increased lymphoma in DNA-PKcs-deficient mice" 696:
associated with increased mortality, but not associated with an aging phenotype, such as
3884:"Roles of RECQ helicases in recombination based DNA repair, genomic stability and aging" 3711: 3148:
Hoeijmakers JH. DNA damage, aging, and cancer. N Engl J Med. 2009 Oct 8;361(15):1475-85.
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Barrett, JC; Guarente, L; Mulligan, R; Demple, B; Yancopoulos, GD; Alt, FW (Jan 2006).
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1825: 1793: 1768: 1695: 1670: 5843: 5636: 5556: 5140: 4146: 3944: 3696:"Human exonuclease 1 and BLM helicase interact to resect DNA and initiate DNA repair" 3334: 3317: 3285: 3268: 3228: 2581: 2517:"SIRT7 promotes genome integrity and modulates non-homologous end joining DNA repair" 738: 43: 4198: 4058: 3960: 3850: 3497: 3351: 3302: 3253: 3193: 2982: 2938: 2501: 2408: 1965: 1686: 5641: 5631: 5567: 5548: 4798: 4268: 2451: 1134: 673: 407: 391: 379: 363: 4406: 4389: 3094: 600:
shorter lifespan, earlier onset of aging related pathologies, genome instability
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display different aspects of aging, but never every aspect, they are often called
4635: 4481: 3991: 3811: 3662: 3392: 2877: 2238: 1997: 1735: 1637: 1481: 1375: 1351:"The progeroid phenotype of Ku80 deficiency is dominant over DNA-PKCS deficiency" 5804: 5512:
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome
5413: 5292: 5268: 4530: 4339:"MUTYH DNA glycosylase: the rationale for removing undamaged bases from the DNA" 3437: 2468:"Genomic instability and aging-like phenotype in the absence of mammalian SIRT6" 1004: 490:; aspects of premature aging; altered expression of numerous DNA repair factors 402:
premature aging features with shorter life span and photosensitivity, deficient
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premature aging features with shorter life span and photosensitivity, deficient
118: 4442: 4302: 4287:"Endometrial cancer and Lynch syndrome: clinical and pathologic considerations" 3835:"Human RECQ helicases: roles in DNA metabolism, mutagenesis and cancer biology" 3553:
Chrzanowska KH, Gregorek H, Dembowska-BagiƄska B, Kalina MA, Digweed M (2012).
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Espejel S, MartĂ­n M, Klatt P, MartĂ­n-Caballero J, Flores JM, Blasco MA (2004).
1268: 5562: 5157: 4794: 3899: 2922: 2392: 2344: 2148: 2099: 1949: 1897: 1180: 1021: 946: 936: 747: 725: 106: 64: 4579: 4355: 1317: 5824: 3720: 3078: 2631: 2532: 2298: 1466:"Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease" 688: 4597: 4548: 4499: 4450: 4415: 4374: 4320: 4260: 4216: 4164: 4112: 4093: 4050: 4009: 3952: 3917: 3868: 3819: 3739: 3680: 3631: 3590: 3571: 3536: 3489: 3445: 3410: 3343: 3294: 3245: 3185: 3135: 3126: 3109: 3086: 3037: 2974: 2930: 2895: 2846: 2797: 2748: 2739: 2722: 2707: 2650: 2599: 2550: 2493: 2443: 2400: 2362: 2317: 2266: 2215: 2166: 2117: 2065: 2016: 1957: 1915: 1843: 1784: 1753: 1704: 1655: 1606: 1557: 1499: 1443: 1394: 1335: 1286: 1237: 3780: 3029: 2828: 1802: 1588: 921:
basal cell carcinoma, squamous cell carcinoma, intraepidermal carcinoma
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Against this position other biogerontologists argue that premature aging
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Nimonkar AV, Ozsoy AZ, Genschel J, Modrich P, Kowalczykowski SC (2008).
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sarcomas, breast cancers, brain tumors, and adrenocortical carcinomas
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DNA repair defects are seen in nearly all of the diseases described as
4251: 4234: 4041: 4024: 3796:"Deficient DNA repair in the human progeroid disorder, Werner syndrome" 3318:"Rebuttal to Miller: 'Accelerated aging': a primrose path to insight?'" 1093: 434:
mutations have a partially inactivated protein with retarded repair of
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Oh KS, Imoto K, Emmert S, Tamura D, DiGiovanna JJ, Kraemer KH (2011).
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Shamanna RA, Lu H, de Freitas JK, Tian J, Croteau DL, Bohr VA (2016).
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Template:Congenital malformations and deformations of skin appendages
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Theil AF, Nonnekens J, Wijgers N, Vermeulen W, Giglia-Mari G (2011).
910: 858: 853: 838: 755: 729: 709: 636: 508: 419: 3795: 3512: 2862:"Roles of Werner syndrome protein in protection of genome integrity" 2435: 4466:"Connecting molecular pathways to hereditary cancer risk syndromes" 4183:"DNA repair diseases: What do they tell us about cancer and aging?" 2966: 1573:"Broad segmental progeroid changes in short-lived Ercc1(-/Δ7) mice" 18:
Inherited human DNA repair gene mutations that increase cancer risk
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Ahmed EA, VĂ©laz E, Rosemann M, Gilbertz KP, Scherthan H (2017).
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Focal palmoplantar keratoderma with oral mucosal hyperkeratosis
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DNA repair and toxicology - Companion Reviews and Search Terms
3110:"Activation of human MutS homologs by 8-oxo-guanine DNA damage" 2566:"Homologous recombination resolution defect in werner syndrome" 1107: 974: 970: 655:
rather than as cancer or "accelerated aging". (Also see the "
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Neoplasia carcinogenesis - Companion Reviews and Search Terms
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Pichierri P, Ammazzalorso F, Bignami M, Franchitto A (2011).
962:, repairs damage in both transcribed and untranscribed DNA 334:, muscle wasting, osteopenia, kyphosis and cerebral atrophy 905:
soft tissue sarcoma, colorectal, skin, thyroid, pancreas
301:) and with extreme sun-mediated skin cancer predisposition 623:
DNA repair defects distinguished from "accelerated aging"
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Congenital hypertrophy of the lateral fold of the hallux
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Neoplasia inherited - Companion Reviews and Search Terms
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Template:DNA replication and repair-deficiency disorder
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is a medical condition due to reduced functionality of
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Bloom s syndrome - Companion Reviews and Search Terms
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Tian M, Jones DA, Smith M, Shinkura R, Alt FW (2004).
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Fanconi s anemia - Companion Reviews and Search Terms
1026:skin cancers (basal cell, squamous cell, melanoma) 4612: 3160:"Defective DNA repair and neurodegenerative disease" 5690: 5660: 5624: 5615: 5534: 5453: 5200: 5186: 5139: 5088: 4965: 4915: 4897: 4846: 4828: 4814: 4805: 4616: 37: 32: 3209:"'Accelerated aging': a primrose path to insight?" 2280:Cai Q, Fu L, Wang Z, Gan N, Dai X, Wang Y (2014). 941:leukemia, liver tumors, solid tumors many areas 929:genes FANCA, B, C, D1, D2, E, F, G, I, J, L, M, N 5219:Diffuse nonepidermolytic palmoplantar keratoderma 2180:Li H, Vogel H, Holcomb VB, Gu Y, Hasty P (2007). 792:of double strand breaks and daughter strand gaps 486:increased DNA damage and chromosome aberrations; 4943:Nonbullous congenital ichthyosiform erythroderma 5865:DNA replication and repair-deficiency disorders 5408:Palmoplantar keratoderma and spastic paraplegia 3108:Mazurek A, Berardini M, Fishel R (March 2002). 3001:"Nuclear DNA damage as a direct cause of aging" 1464:Gregg SQ, Robinson AR, Niedernhofer LJ (2011). 5214:Diffuse epidermolytic palmoplantar keratoderma 3513:"Recombinational DNA repair and human disease" 5745:Congenital malformations of the dermatoglyphs 4775: 8: 4075:Lehmann AR, McGibbon D, Stefanini M (2011). 1001:strands of transcriptionally active genes 724:Individuals with an inherited impairment in 720:DNA repair defects and increased cancer risk 643:(HNPCC) is very often caused by a defective 182:Some examples of DNA repair defects causing 4735:MUTYH - Companion Reviews and Search Terms 4710:FANCN - Companion Reviews and Search Terms 4695:RECQL4 - Companion Reviews and Search Terms 4660:BRCA2 - Companion Reviews and Search Terms 4655:BRCA1 - Companion Reviews and Search Terms 3457: 3455: 1931: 1929: 1927: 1925: 5770:Melanotic neuroectodermal tumor of infancy 5621: 5507:Keratosis follicularis spinulosa decalvans 5197: 4938:Ichthyosis–sclerosing cholangitis syndrome 4825: 4811: 4782: 4768: 4760: 4730:MSH6 - Companion Reviews and Search Terms 4705:FANCM - Companion Reviews and Search Terms 4700:FANCJ - Companion Reviews and Search Terms 4670:NBS1 - Companion Reviews and Search Terms 4613: 4070: 4068: 3548: 3546: 3158:Rass U, Ahel I, West SC (September 2007). 2077: 2075: 965:skin cancer (melanoma and non-melanoma) 743: 728:capability are often at increased risk of 188: 48: 29: 5730:Congenital cartilaginous rest of the neck 5325:Focal palmoplantar and gingival keratosis 4725:XPG - Companion Reviews and Search Terms 4720:XPD - Companion Reviews and Search Terms 4715:XPB - Companion Reviews and Search Terms 4665:ATM - Companion Reviews and Search Terms 4650:BRCA - Companion Reviews and Search Terms 4587: 4538: 4489: 4464:Testa JR, Malkin D, Schiffman JD (2013). 4405: 4364: 4354: 4310: 4250: 4206: 4154: 4102: 4092: 4040: 3999: 3907: 3858: 3770: 3729: 3719: 3670: 3621: 3580: 3570: 3479: 3400: 3333: 3284: 3227: 3175: 3125: 3019: 2885: 2836: 2787: 2738: 2697: 2640: 2630: 2589: 2540: 2483: 2352: 2307: 2297: 2256: 2205: 2156: 2107: 2055: 2006: 1996: 1905: 1792: 1743: 1694: 1645: 1596: 1547: 1489: 1433: 1384: 1374: 1325: 1276: 1227: 1217: 641:Hereditary nonpolyposis colorectal cancer 5795:Rapidly involuting congenital hemangioma 5385:Keratosis punctata of the palmar creases 5380:Keratosis punctata palmaris et plantaris 5251:Clouston's hidrotic ectodermal dysplasia 4690:RECQ- Companion Reviews and Search Terms 4685:WRN - Companion Reviews and Search Terms 4337:Markkanen E, Dorn J, HĂŒbscher U (2013). 4280: 4278: 4176: 4174: 1875: 1873: 186:in humans or mice are shown in Table 1. 87:DNA repair defects and accelerated aging 4332: 4330: 4228: 4226: 2994: 2992: 1459: 1457: 1455: 1453: 1192: 1131:BER for Tg, FapyG, 5-hC, 5-hU in dsDNA 2374: 2372: 1859: 1849: 676:, etc., are associated with increased 153:(Hutchinson–Gilford progeria syndrome) 125:Human disorders with accelerated aging 4856:Congenital ichthyosiform erythroderma 4564:"NTHL1 defines novel cancer syndrome" 4285:Meyer LA, Broaddus RR, Lu KH (2009). 4124: 4122: 4025:"Cancer in Fanconi anemia, 1927-2001" 2082:Holcomb VB, Vogel H, Hasty P (2007). 1045:postmeiotic segregation increased 2 ( 663:Debate concerning "accelerated aging" 7: 5517:Keratosis pilaris atrophicans faciei 5102:Dermatopathia pigmentosa reticularis 2860:Rossi ML, Ghosh AK, Bohr VA (2010). 1426:10.1016/j.freeradbiomed.2010.02.033 5810:Superficial lymphatic malformation 5755:Congenital smooth muscle hamartoma 5224:Palmoplantar keratoderma of Sybert 4793:malformations and deformations of 4562:Kuiper RP, Hoogerbrugge N (2015). 3555:"Nijmegen breakage syndrome (NBS)" 325:Microhomology-mediated end joining 25: 5282:Scleroatrophic syndrome of Huriez 5112:Hypohidrotic ectodermal dysplasia 3882:Singh DK, Ahn B, Bohr VA (2009). 350:Homologous recombinational repair 5395:Porokeratosis plantaris discreta 5352:Striate palmoplantar keratoderma 4147:10.1111/j.1751-1097.2011.00909.x 3945:10.1097/00003086-200009000-00032 3335:10.1111/j.1474-9728.2004.00087.x 3286:10.1111/j.1474-9728.2004.00082.x 3229:10.1111/j.1474-9728.2004.00081.x 2582:10.1128/mcb.22.20.6971-6978.2002 918:Helicase likely active in HRR 5820:Verrucous vascular malformation 5750:Congenital preauricular fistula 5720:Accessory nail of the fifth toe 5597:Template:Pigmentation disorders 5390:Schöpf–Schulz–Passarge syndrome 5370:Acrokeratoelastoidosis of Costa 5075:Laryngoonychocutaneous syndrome 4948:Ichthyosis linearis circumflexa 4933:Ichthyosis prematurity syndrome 4199:10.1590/s1415-47572014000200008 3851:10.1016/j.semcancer.2010.10.002 1687:10.1128/MCB.24.6.2237-2242.2004 277:(also transcription as part of 5434:Erythrokeratodermia variabilis 5345:Pachyonychia congenita type II 4519:Cold Spring Harb Perspect Biol 3511:Thompson LH, Schild D (2002). 3316:Hasty P, Vijg J (April 2004). 3267:Hasty P, Vijg J (April 2004). 1007:(melanoma and non-melanoma) 597:, Replication arrest recovery 394:(Cockayne syndrome A or CS-A) 366:(Cockayne syndrome B or CS-B) 284:some mutations in ERCC2 cause 61:DNA repair-deficiency disorder 33:DNA repair-deficiency disorder 1: 5760:Cystic lymphatic malformation 5713:Cavernous venous malformation 5340:Pachyonychia congenita type I 5263:Corneodermatoosseous syndrome 4923:Ichthyosis bullosa of Siemens 4431:Biochem. Biophys. Res. Commun 4407:10.1158/1541-7786.MCR-08-0020 3974:Thompson LH, Hinz JM (2009). 3529:10.1016/s0027-5107(02)00224-5 3375:Nagaraju G, Scully R (2007). 1826:10.1016/S0079-6603(01)68096-6 1577:Pathobiol Aging Age Relat Dis 828:leukemia, lymphoma, breast 801:ataxia telangiectasia mutated 317:Interstrand cross link repair 251:Interstrand cross link repair 105:or systems of the human body 5168:Popliteal pterygium syndrome 4860:Epidermolytic hyperkeratosis 4513:Krokan HE, BjĂžrĂ„s M (2013). 4482:10.1200/EdBook_AM.2013.33.81 4181:Menck CF, Munford V (2014). 3992:10.1016/j.mrfmmm.2009.02.003 3812:10.1016/j.mrfmmm.2005.03.021 3700:Proc. Natl. Acad. Sci. U.S.A 3663:10.1016/j.molonc.2008.09.007 3604:Rapp A, Greulich KO (2004). 3393:10.1016/j.dnarep.2007.02.020 2878:10.1016/j.dnarep.2009.12.011 2239:10.1007/978-1-4939-3530-7_26 1998:10.1371/journal.pgen.1003431 1736:10.1016/j.molcel.2015.12.026 1638:10.1016/j.dnarep.2011.04.028 1482:10.1016/j.dnarep.2011.04.026 1376:10.1371/journal.pone.0093568 773:Cancers with increased risk 73:repair defects can cause an 5800:Rosenthal–Kloepfer syndrome 5785:Omphalomesenteric duct cyst 5502:Keratolytic winter erythema 5162:Gerodermia osteodysplastica 4531:10.1101/cshperspect.a012583 4470:Am Soc Clin Oncol Educ Book 3438:10.1016/j.ygyno.2014.09.009 1880:Iyama T, Wilson DM (2016). 1620:Fuss JO, Tainer JA (2011). 1022:Translesion synthesis (TLS) 1015:(also called polymerase H) 5891: 5375:Focal acral hyperkeratosis 5122:Ellis–van Creveld syndrome 4443:10.1016/j.bbrc.2005.03.192 4303:10.1177/107327480901600103 3177:10.1016/j.cell.2007.08.043 2485:10.1016/j.cell.2005.11.044 1269:10.1016/j.stem.2007.03.002 1171:DNA damage theory of aging 1072:colorectal, endometrial 834:Nijmegen breakage syndrome 657:DNA damage theory of aging 647:gene leading to defective 591:Non-homologous end joining 572:Non-homologous end joining 557:Non-homologous end joining 549:Nucleotide excision repair 526:Non-homologous end joining 518:Nucleotide excision repair 499:Nucleotide excision repair 478:Non-homologous end joining 463:Non-homologous end joining 448:Non-homologous end joining 426:Nucleotide excision repair 398:Nucleotide excision repair 370:Nucleotide excision repair 346:Nucleotide excision repair 313:Nucleotide excision repair 275:Nucleotide excision repair 247:Nucleotide excision repair 232:Non-homologous end joining 216:Nucleotide excision repair 111:accelerated aging diseases 5299:Papillon–LefĂšvre syndrome 4870:Harlequin-type ichthyosis 3900:10.1007/s10522-008-9205-z 2923:10.1016/j.arr.2014.12.006 2393:10.1016/j.arr.2016.06.002 2345:10.1016/j.mad.2015.03.012 2149:10.1007/s00412-016-0590-9 2100:10.1016/j.mad.2007.08.006 1950:10.1016/j.mad.2013.03.006 1898:10.1016/j.jmb.2015.11.020 1200:Park JM, Kang TH (2016). 995:Transcription coupled NER 772: 770:Repair pathways affected 769: 763: 706:aging-associated diseases 404:transcription coupled NER 376:transcription coupled NER 257:transcription coupled NER 157:Rothmund–Thomson syndrome 109:prematurely. Because the 94:accelerated aging disease 76:accelerated aging disease 5173:Pseudoxanthoma elasticum 4889:Sjögren–Larsson syndrome 4580:10.18632/oncotarget.5864 4356:10.3389/fgene.2013.00018 3933:Clin. Orthop. Relat. Res 3207:Miller RA (April 2004). 1318:10.1038/sj.embor.7400127 778:breast cancer 1 & 2 766: 611:Homologous recombination 587:Homologous recombination 582:Werner syndrome helicase 553:Homologous recombination 522:Homologous recombination 482:Homologous recombination 81:increased risk of cancer 5698:Aplasia cutis congenita 5117:Focal dermal hypoplasia 5080:Skin fragility syndrome 4928:Ichthyosis follicularis 4077:"Xeroderma pigmentosum" 3721:10.1073/pnas.0809380105 3079:10.1126/science.1079161 2632:10.1074/jbc.M114.578823 2533:10.15252/embj.201593499 2299:10.1074/jbc.M114.558510 810:Different mutations in 321:Single-strand annealing 5815:Thyroglossal duct cyst 5780:Nasolacrimal duct cyst 5703:Amniotic band syndrome 5497:Dyskeratosis congenita 5485:Dyskeratosis congenita 5335:Pachyonychia congenita 5246:Bart–Pumphrey syndrome 5178:Van der Woude syndrome 5153:Ehlers–Danlos syndrome 4515:"Base excision repair" 4094:10.1186/1750-1172-6-70 3572:10.1186/1750-1172-7-13 3127:10.1074/jbc.M111269200 2740:10.1074/jbc.M703343200 899:HRR, NHEJ, long patch 332:chronic kidney disease 5680:Nevus flammeus nuchae 5591:Template:Phakomatoses 5563:Hereditary lymphedema 5127:Rapp–Hodgkin syndrome 4816:Congenital ichthyosis 3030:10.1089/rej.2009.0847 3008:Rejuvenation Research 2829:10.18632/aging.100293 1589:10.3402/pba.v1i0.7219 1414:Free Radic. Biol. Med 295:xeroderma pigmentosum 172:Xeroderma pigmentosum 131:Ataxia-telangiectasia 83:, or sometimes both. 5870:Causes of conditions 5670:Capillary hemangioma 5572:Urticaria pigmentosa 5330:Howel–Evans syndrome 5090:Ectodermal dysplasia 5031:Generalized atrophic 4135:Photochem. Photobiol 3481:10.1096/fj.11-185546 2231:The Nuclear Envelope 2198:10.1128/MCB.00785-07 2048:10.1128/MCB.01462-10 1785:10.1093/nar/27.4.979 1219:10.3390/ijms17111840 1166:Degenerative disease 1147:basal-cell carcinoma 991:XPA XPB XPD XPF XPG 633:base excision repair 595:Base excision repair 545:Base excision repair 514:Base excision repair 354:Base excision repair 5357:Tyrosinemia type II 4907:X-linked ichthyosis 4865:Lamellar ichthyosis 4838:Ichthyosis vulgaris 4821:erythrokeratodermia 4193:(1 Suppl): 220–33. 4081:Orphanet J Rare Dis 3712:2008PNAS..10516906N 3559:Orphanet J Rare Dis 2690:10.1038/ncomms13785 2682:2016NatCo...713785S 1540:10.1038/nature19329 1532:2016Natur.537..427V 1367:2014PLoSO...993568R 1039:) homolog 6, mutL ( 1035:) homolog 2, mutS ( 848:lymphoid cancers 760: 714:Alzheimer's disease 682:biomarkers of aging 680:. Without reliable 674:high blood pressure 291:trichothiodystrophy 195: 184:progeroid syndromes 162:Trichothiodystrophy 115:segmental progerias 97:, in which various 5740:Congenital lip pit 5304:Haim–Munk syndrome 5256:Vohwinkel syndrome 5131:Hay–Wells syndrome 5107:Hay–Wells syndrome 4953:Ichthyosis hystrix 4879:Netherton syndrome 4755:Segmental Progeria 4388:Kastan MB (2008). 4252:10.1002/humu.22462 4042:10.1002/cncr.11046 3839:Semin. Cancer Biol 3833:Monnat RJ (2010). 3616:(Pt 21): 4935–45. 3381:DNA Repair (Amst.) 2866:DNA Repair (Amst.) 2780:10.1093/nar/gks648 2339:. 146–148: 42–52. 1626:DNA Repair (Amst.) 1470:DNA Repair (Amst.) 1139:endometrial cancer 960:Global genomic NER 795:breast, ovarian 744: 702:sickle cell anemia 299:progeroid syndrome 192:segmental progeria 189: 5837: 5836: 5833: 5832: 5765:Median raphe cyst 5725:Bronchogenic cyst 5647:PHACE association 5611: 5610: 5530: 5529: 5522:Keratosis pilaris 5466:Keratosis pilaris 5420:Carvajal syndrome 5400:Spiny keratoderma 5065:Costello syndrome 4961: 4960: 4645: 4644: 4023:Alter BP (2003). 3759:Am. J. Hum. Genet 3753:German J (1969). 3623:10.1242/jcs.01355 2999:Best, BP (2009). 2768:Nucleic Acids Res 2733:(36): 26591–602. 2248:978-1-4939-3528-4 1773:Nucleic Acids Res 1767:Bessho T (1999). 1526:(7620): 427–431. 1152: 1151: 653:neurodegeneration 620: 619: 436:6-4-photoproducts 414:and cyclopurines 412:5-hydroxycytosine 386:and cyclopurines 384:5-hydroxycytosine 286:Cockayne syndrome 141:Cockayne syndrome 119:biogerontologists 57: 56: 27:Medical condition 16:(Redirected from 5882: 5652:Sinus pericranii 5622: 5478:Darier's disease 5287:Olmsted syndrome 5198: 5098:Naegeli syndrome 5070:Kindler syndrome 4826: 4812: 4784: 4777: 4770: 4761: 4614: 4602: 4601: 4591: 4574:(33): 34069–70. 4559: 4553: 4552: 4542: 4510: 4504: 4503: 4493: 4461: 4455: 4454: 4426: 4420: 4419: 4409: 4385: 4379: 4378: 4368: 4358: 4334: 4325: 4324: 4314: 4282: 4273: 4272: 4254: 4230: 4221: 4220: 4210: 4187:Genet. Mol. Biol 4178: 4169: 4168: 4158: 4126: 4117: 4116: 4106: 4096: 4072: 4063: 4062: 4044: 4020: 4014: 4013: 4003: 3971: 3965: 3964: 3928: 3922: 3921: 3911: 3879: 3873: 3872: 3862: 3830: 3824: 3823: 3794:Bohr VA (2005). 3791: 3785: 3784: 3774: 3750: 3744: 3743: 3733: 3723: 3706:(44): 16906–11. 3691: 3685: 3684: 3674: 3642: 3636: 3635: 3625: 3601: 3595: 3594: 3584: 3574: 3550: 3541: 3540: 3508: 3502: 3501: 3483: 3459: 3450: 3449: 3421: 3415: 3414: 3404: 3372: 3366: 3362: 3356: 3355: 3337: 3313: 3307: 3306: 3288: 3264: 3258: 3257: 3231: 3213: 3204: 3198: 3197: 3179: 3155: 3149: 3146: 3140: 3139: 3129: 3105: 3099: 3098: 3073:(5611): 1355–9. 3062: 3056: 3055: 3053: 3052: 3046: 3040:. Archived from 3023: 3005: 2996: 2987: 2986: 2949: 2943: 2942: 2906: 2900: 2899: 2889: 2857: 2851: 2850: 2840: 2808: 2802: 2801: 2791: 2759: 2753: 2752: 2742: 2718: 2712: 2711: 2701: 2661: 2655: 2654: 2644: 2634: 2625:(39): 27314–26. 2610: 2604: 2603: 2593: 2561: 2555: 2554: 2544: 2527:(14): 1488–503. 2512: 2506: 2505: 2487: 2462: 2456: 2455: 2424:Nat. Rev. Cancer 2419: 2413: 2412: 2376: 2367: 2366: 2356: 2337:Mech. Ageing Dev 2328: 2322: 2321: 2311: 2301: 2292:(23): 16046–56. 2277: 2271: 2270: 2260: 2226: 2220: 2219: 2209: 2177: 2171: 2170: 2160: 2128: 2122: 2121: 2111: 2094:(11–12): 601–8. 2088:Mech. Ageing Dev 2079: 2070: 2069: 2059: 2027: 2021: 2020: 2010: 2000: 1976: 1970: 1969: 1938:Mech. Ageing Dev 1933: 1920: 1919: 1909: 1877: 1868: 1867: 1861: 1857: 1855: 1847: 1813: 1807: 1806: 1796: 1764: 1758: 1757: 1747: 1715: 1709: 1708: 1698: 1666: 1660: 1659: 1649: 1617: 1611: 1610: 1600: 1568: 1562: 1561: 1551: 1510: 1504: 1503: 1493: 1461: 1448: 1447: 1437: 1405: 1399: 1398: 1388: 1378: 1346: 1340: 1339: 1329: 1297: 1291: 1290: 1280: 1248: 1242: 1241: 1231: 1221: 1197: 1176:Genetic disorder 764:DNA repair gene 761: 694:genetic diseases 196: 53: 52: 30: 21: 5890: 5889: 5885: 5884: 5883: 5881: 5880: 5879: 5840: 5839: 5838: 5829: 5691:Other/ungrouped 5686: 5675:Port-wine stain 5656: 5617: 5607: 5526: 5449: 5191: 5182: 5135: 5084: 4969: 4957: 4911: 4893: 4842: 4819: 4801: 4788: 4646: 4641: 4640: 4625: 4611: 4606: 4605: 4561: 4560: 4556: 4512: 4511: 4507: 4463: 4462: 4458: 4428: 4427: 4423: 4394:Mol. Cancer Res 4387: 4386: 4382: 4336: 4335: 4328: 4284: 4283: 4276: 4232: 4231: 4224: 4180: 4179: 4172: 4128: 4127: 4120: 4074: 4073: 4066: 4022: 4021: 4017: 3973: 3972: 3968: 3939:(378): 213–23. 3930: 3929: 3925: 3881: 3880: 3876: 3832: 3831: 3827: 3793: 3792: 3788: 3752: 3751: 3747: 3693: 3692: 3688: 3644: 3643: 3639: 3603: 3602: 3598: 3552: 3551: 3544: 3510: 3509: 3505: 3474:(11): 3849–60. 3461: 3460: 3453: 3423: 3422: 3418: 3374: 3373: 3369: 3363: 3359: 3315: 3314: 3310: 3266: 3265: 3261: 3211: 3206: 3205: 3201: 3170:(6): 991–1004. 3157: 3156: 3152: 3147: 3143: 3107: 3106: 3102: 3064: 3063: 3059: 3050: 3048: 3044: 3003: 2998: 2997: 2990: 2951: 2950: 2946: 2917:(Pt A): 12–28. 2911:Ageing Res. Rev 2908: 2907: 2903: 2859: 2858: 2854: 2810: 2809: 2805: 2774:(17): 8449–59. 2761: 2760: 2756: 2720: 2719: 2715: 2663: 2662: 2658: 2612: 2611: 2607: 2570:Mol. Cell. Biol 2563: 2562: 2558: 2514: 2513: 2509: 2464: 2463: 2459: 2436:10.1038/nrc3985 2421: 2420: 2416: 2381:Ageing Res. Rev 2378: 2377: 2370: 2330: 2329: 2325: 2279: 2278: 2274: 2249: 2228: 2227: 2223: 2192:(23): 8205–14. 2186:Mol. Cell. Biol 2179: 2178: 2174: 2130: 2129: 2125: 2081: 2080: 2073: 2036:Mol. Cell. Biol 2029: 2028: 2024: 1991:(4): e1003431. 1978: 1977: 1973: 1935: 1934: 1923: 1879: 1878: 1871: 1858: 1848: 1836: 1815: 1814: 1810: 1766: 1765: 1761: 1717: 1716: 1712: 1675:Mol. Cell. Biol 1668: 1667: 1663: 1619: 1618: 1614: 1570: 1569: 1565: 1512: 1511: 1507: 1463: 1462: 1451: 1420:(10): 1435–43. 1407: 1406: 1402: 1348: 1347: 1343: 1299: 1298: 1294: 1250: 1249: 1245: 1199: 1198: 1194: 1189: 1157: 1143:duodenal cancer 863:HRR and NHEJ 722: 698:cystic fibrosis 665: 649:mismatch repair 631:essential for 625: 180: 167:Werner syndrome 127: 89: 47: 28: 23: 22: 15: 12: 11: 5: 5888: 5886: 5878: 5877: 5872: 5867: 5862: 5857: 5852: 5842: 5841: 5835: 5834: 5831: 5830: 5828: 5827: 5822: 5817: 5812: 5807: 5802: 5797: 5792: 5790:Poland anomaly 5787: 5782: 5777: 5775:Mongolian spot 5772: 5767: 5762: 5757: 5752: 5747: 5742: 5737: 5732: 5727: 5722: 5716: 5715: 5710: 5708:Branchial cyst 5705: 5700: 5694: 5692: 5688: 5687: 5685: 5684: 5683: 5682: 5672: 5666: 5664: 5658: 5657: 5655: 5654: 5649: 5644: 5639: 5634: 5628: 5626: 5619: 5613: 5612: 5609: 5608: 5582: 5581: 5576: 5575: 5574: 5565: 5553: 5552: 5551: 5538: 5536: 5532: 5531: 5528: 5527: 5525: 5524: 5519: 5514: 5509: 5504: 5499: 5493: 5492: 5490:Lelis syndrome 5487: 5482: 5481: 5480: 5468: 5463: 5461:Meleda disease 5457: 5455: 5451: 5450: 5448: 5447: 5446: 5445: 5436: 5424: 5423: 5422: 5410: 5403: 5402: 5397: 5392: 5387: 5382: 5377: 5372: 5362: 5361: 5360: 5359: 5354: 5349: 5348: 5347: 5342: 5332: 5327: 5322: 5313: 5311:Camisa disease 5308: 5307: 5306: 5301: 5289: 5284: 5279: 5278: 5277: 5275:Naxos syndrome 5265: 5260: 5259: 5258: 5253: 5248: 5232: 5231: 5229:Meleda disease 5226: 5221: 5216: 5206: 5204: 5195: 5188:Hyperkeratosis 5184: 5183: 5181: 5180: 5175: 5170: 5165: 5155: 5149: 5147: 5137: 5136: 5134: 5133: 5124: 5119: 5114: 5109: 5104: 5094: 5092: 5086: 5085: 5083: 5082: 5077: 5072: 5067: 5060: 5059: 5058: 5057: 5052: 5041: 5040: 5039: 5038: 5033: 5028: 5023: 5012: 5011: 5010: 5009: 5004: 4999: 4994: 4989: 4984: 4973: 4971: 4963: 4962: 4959: 4958: 4956: 4955: 4950: 4945: 4940: 4935: 4930: 4925: 4919: 4917: 4913: 4912: 4910: 4909: 4903: 4901: 4895: 4894: 4892: 4891: 4886: 4884:CHIME syndrome 4881: 4875: 4874: 4873: 4872: 4862: 4852: 4850: 4844: 4843: 4841: 4840: 4834: 4832: 4823: 4809: 4807:Genodermatosis 4803: 4802: 4789: 4787: 4786: 4779: 4772: 4764: 4758: 4757: 4752: 4747: 4742: 4737: 4732: 4727: 4722: 4717: 4712: 4707: 4702: 4697: 4692: 4687: 4682: 4677: 4672: 4667: 4662: 4657: 4652: 4643: 4642: 4639: 4638: 4626: 4621: 4620: 4618: 4617:Classification 4610: 4609:External links 4607: 4604: 4603: 4554: 4525:(4): a012583. 4505: 4456: 4421: 4380: 4326: 4291:Cancer Control 4274: 4222: 4170: 4118: 4064: 4015: 3986:(1–2): 54–72. 3966: 3923: 3888:Biogerontology 3874: 3825: 3806:(1–2): 252–9. 3786: 3765:(2): 196–227. 3745: 3686: 3657:(4): 296–316. 3637: 3596: 3542: 3523:(1–2): 49–78. 3503: 3451: 3426:Gynecol. Oncol 3416: 3387:(7): 1018–31. 3367: 3357: 3308: 3259: 3199: 3150: 3141: 3120:(10): 8260–6. 3100: 3057: 3021:10.1.1.318.738 3014:(3): 199–208. 2988: 2967:10.1038/nm1266 2944: 2901: 2852: 2803: 2754: 2713: 2656: 2605: 2576:(20): 6971–8. 2556: 2507: 2457: 2430:(10): 608–24. 2414: 2368: 2323: 2272: 2247: 2221: 2172: 2143:(2): 287–298. 2123: 2071: 2042:(17): 3630–8. 2022: 1971: 1944:(5–6): 261–9. 1921: 1869: 1860:|journal= 1834: 1808: 1759: 1710: 1681:(6): 2237–42. 1661: 1632:(7): 697–713. 1612: 1563: 1505: 1449: 1400: 1341: 1292: 1257:Cell Stem Cell 1243: 1191: 1190: 1188: 1185: 1184: 1183: 1178: 1173: 1168: 1163: 1161:Biogerontology 1156: 1153: 1150: 1149: 1132: 1129: 1126: 1120: 1119: 1116: 1113: 1110: 1104: 1103: 1100: 1087: 1082: 1077:mutY homolog ( 1074: 1073: 1070: 1065: 1051: 1028: 1027: 1024: 1019: 1016: 1009: 1008: 1002: 992: 989: 967: 966: 963: 957: 954: 943: 942: 939: 933: 930: 927:Fanconi anemia 923: 922: 919: 916: 913: 907: 906: 903: 897: 894: 888: 887: 884: 881: 874: 872:Bloom syndrome 868: 867: 864: 861: 856: 850: 849: 846: 841: 836: 830: 829: 826: 808: 803: 797: 796: 793: 787: 779: 775: 774: 771: 768: 765: 754:that increase 721: 718: 664: 661: 624: 621: 618: 617: 613: 608: 602: 601: 598: 584: 578: 577: 574: 569: 563: 562: 559: 542: 536: 535: 528: 511: 505: 504: 501: 496: 492: 491: 484: 475: 469: 468: 465: 460: 454: 453: 450: 445: 439: 438: 428: 423: 416: 415: 400: 395: 388: 387: 372: 367: 360: 359: 356: 343: 336: 335: 327: 310: 303: 302: 282: 272: 265: 264: 253: 244: 238: 237: 234: 229: 223: 222: 218: 213: 207: 206: 203: 200: 179: 176: 175: 174: 169: 164: 159: 154: 148: 146:Fanconi anemia 143: 138: 136:Bloom syndrome 133: 126: 123: 88: 85: 55: 54: 41: 35: 34: 26: 24: 14: 13: 10: 9: 6: 4: 3: 2: 5887: 5876: 5873: 5871: 5868: 5866: 5863: 5861: 5858: 5856: 5853: 5851: 5848: 5847: 5845: 5826: 5823: 5821: 5818: 5816: 5813: 5811: 5808: 5806: 5803: 5801: 5798: 5796: 5793: 5791: 5788: 5786: 5783: 5781: 5778: 5776: 5773: 5771: 5768: 5766: 5763: 5761: 5758: 5756: 5753: 5751: 5748: 5746: 5743: 5741: 5738: 5736: 5733: 5731: 5728: 5726: 5723: 5721: 5718: 5717: 5714: 5711: 5709: 5706: 5704: 5701: 5699: 5696: 5695: 5693: 5689: 5681: 5678: 5677: 5676: 5673: 5671: 5668: 5667: 5665: 5663: 5659: 5653: 5650: 5648: 5645: 5643: 5640: 5638: 5637:Encephalocele 5635: 5633: 5630: 5629: 5627: 5623: 5620: 5616:Developmental 5614: 5606: 5605: 5604: 5599: 5598: 5593: 5592: 5588: 5580: 5579:Hailey–Hailey 5577: 5573: 5569: 5566: 5564: 5561: 5560: 5559: 5558: 5557:immune system 5554: 5550: 5547: 5546: 5545: 5544: 5540: 5539: 5537: 5533: 5523: 5520: 5518: 5515: 5513: 5510: 5508: 5505: 5503: 5500: 5498: 5495: 5494: 5491: 5488: 5486: 5483: 5479: 5476: 5475: 5474: 5473: 5469: 5467: 5464: 5462: 5459: 5458: 5456: 5452: 5444: 5440: 5437: 5435: 5432: 5431: 5430: 5429: 5425: 5421: 5418: 5417: 5416: 5415: 5411: 5409: 5405: 5404: 5401: 5398: 5396: 5393: 5391: 5388: 5386: 5383: 5381: 5378: 5376: 5373: 5371: 5367: 5364: 5363: 5358: 5355: 5353: 5350: 5346: 5343: 5341: 5338: 5337: 5336: 5333: 5331: 5328: 5326: 5323: 5321: 5317: 5314: 5312: 5309: 5305: 5302: 5300: 5297: 5296: 5295: 5294: 5290: 5288: 5285: 5283: 5280: 5276: 5273: 5272: 5271: 5270: 5266: 5264: 5261: 5257: 5254: 5252: 5249: 5247: 5244: 5243: 5242: 5241: 5237: 5236: 5234: 5233: 5230: 5227: 5225: 5222: 5220: 5217: 5215: 5211: 5208: 5207: 5205: 5203: 5199: 5196: 5194: 5193:keratinopathy 5189: 5185: 5179: 5176: 5174: 5171: 5169: 5166: 5163: 5159: 5156: 5154: 5151: 5150: 5148: 5146: 5142: 5138: 5132: 5128: 5125: 5123: 5120: 5118: 5115: 5113: 5110: 5108: 5105: 5103: 5099: 5096: 5095: 5093: 5091: 5087: 5081: 5078: 5076: 5073: 5071: 5068: 5066: 5062: 5061: 5056: 5053: 5051: 5048: 5047: 5046: 5043: 5042: 5037: 5034: 5032: 5029: 5027: 5024: 5022: 5019: 5018: 5017: 5014: 5013: 5008: 5005: 5003: 5000: 4998: 4995: 4993: 4990: 4988: 4985: 4983: 4980: 4979: 4978: 4975: 4974: 4972: 4968: 4964: 4954: 4951: 4949: 4946: 4944: 4941: 4939: 4936: 4934: 4931: 4929: 4926: 4924: 4921: 4920: 4918: 4914: 4908: 4905: 4904: 4902: 4900: 4896: 4890: 4887: 4885: 4882: 4880: 4877: 4876: 4871: 4868: 4867: 4866: 4863: 4861: 4857: 4854: 4853: 4851: 4849: 4845: 4839: 4836: 4835: 4833: 4831: 4827: 4824: 4822: 4817: 4813: 4810: 4808: 4804: 4800: 4796: 4792: 4785: 4780: 4778: 4773: 4771: 4766: 4765: 4762: 4756: 4753: 4751: 4748: 4746: 4743: 4741: 4738: 4736: 4733: 4731: 4728: 4726: 4723: 4721: 4718: 4716: 4713: 4711: 4708: 4706: 4703: 4701: 4698: 4696: 4693: 4691: 4688: 4686: 4683: 4681: 4678: 4676: 4673: 4671: 4668: 4666: 4663: 4661: 4658: 4656: 4653: 4651: 4648: 4647: 4637: 4633: 4632: 4628: 4627: 4624: 4619: 4615: 4608: 4599: 4595: 4590: 4585: 4581: 4577: 4573: 4569: 4565: 4558: 4555: 4550: 4546: 4541: 4536: 4532: 4528: 4524: 4520: 4516: 4509: 4506: 4501: 4497: 4492: 4487: 4483: 4479: 4475: 4471: 4467: 4460: 4457: 4452: 4448: 4444: 4440: 4437:(3): 868–80. 4436: 4432: 4425: 4422: 4417: 4413: 4408: 4403: 4400:(4): 517–24. 4399: 4395: 4391: 4384: 4381: 4376: 4372: 4367: 4362: 4357: 4352: 4348: 4344: 4340: 4333: 4331: 4327: 4322: 4318: 4313: 4308: 4304: 4300: 4296: 4292: 4288: 4281: 4279: 4275: 4270: 4266: 4262: 4258: 4253: 4248: 4245:(1): 117–28. 4244: 4240: 4236: 4229: 4227: 4223: 4218: 4214: 4209: 4204: 4200: 4196: 4192: 4188: 4184: 4177: 4175: 4171: 4166: 4162: 4157: 4152: 4148: 4144: 4141:(3): 729–33. 4140: 4136: 4132: 4125: 4123: 4119: 4114: 4110: 4105: 4100: 4095: 4090: 4086: 4082: 4078: 4071: 4069: 4065: 4060: 4056: 4052: 4048: 4043: 4038: 4035:(2): 425–40. 4034: 4030: 4026: 4019: 4016: 4011: 4007: 4002: 3997: 3993: 3989: 3985: 3981: 3977: 3970: 3967: 3962: 3958: 3954: 3950: 3946: 3942: 3938: 3934: 3927: 3924: 3919: 3915: 3910: 3905: 3901: 3897: 3894:(3): 235–52. 3893: 3889: 3885: 3878: 3875: 3870: 3866: 3861: 3856: 3852: 3848: 3845:(5): 329–39. 3844: 3840: 3836: 3829: 3826: 3821: 3817: 3813: 3809: 3805: 3801: 3797: 3790: 3787: 3782: 3778: 3773: 3768: 3764: 3760: 3756: 3749: 3746: 3741: 3737: 3732: 3727: 3722: 3717: 3713: 3709: 3705: 3701: 3697: 3690: 3687: 3682: 3678: 3673: 3668: 3664: 3660: 3656: 3652: 3648: 3641: 3638: 3633: 3629: 3624: 3619: 3615: 3611: 3607: 3600: 3597: 3592: 3588: 3583: 3578: 3573: 3568: 3564: 3560: 3556: 3549: 3547: 3543: 3538: 3534: 3530: 3526: 3522: 3518: 3514: 3507: 3504: 3499: 3495: 3491: 3487: 3482: 3477: 3473: 3469: 3465: 3458: 3456: 3452: 3447: 3443: 3439: 3435: 3431: 3427: 3420: 3417: 3412: 3408: 3403: 3398: 3394: 3390: 3386: 3382: 3378: 3371: 3368: 3361: 3358: 3353: 3349: 3345: 3341: 3336: 3331: 3327: 3323: 3319: 3312: 3309: 3304: 3300: 3296: 3292: 3287: 3282: 3278: 3274: 3270: 3263: 3260: 3255: 3251: 3247: 3243: 3239: 3238:2027.42/73065 3235: 3230: 3225: 3221: 3217: 3210: 3203: 3200: 3195: 3191: 3187: 3183: 3178: 3173: 3169: 3165: 3161: 3154: 3151: 3145: 3142: 3137: 3133: 3128: 3123: 3119: 3115: 3114:J. Biol. Chem 3111: 3104: 3101: 3096: 3092: 3088: 3084: 3080: 3076: 3072: 3068: 3061: 3058: 3047:on 2017-11-15 3043: 3039: 3035: 3031: 3027: 3022: 3017: 3013: 3009: 3002: 2995: 2993: 2989: 2984: 2980: 2976: 2972: 2968: 2964: 2960: 2956: 2948: 2945: 2940: 2936: 2932: 2928: 2924: 2920: 2916: 2912: 2905: 2902: 2897: 2893: 2888: 2883: 2879: 2875: 2872:(3): 331–44. 2871: 2867: 2863: 2856: 2853: 2848: 2844: 2839: 2834: 2830: 2826: 2822: 2818: 2814: 2807: 2804: 2799: 2795: 2790: 2785: 2781: 2777: 2773: 2769: 2765: 2758: 2755: 2750: 2746: 2741: 2736: 2732: 2728: 2727:J. Biol. Chem 2724: 2717: 2714: 2709: 2705: 2700: 2695: 2691: 2687: 2683: 2679: 2675: 2671: 2667: 2660: 2657: 2652: 2648: 2643: 2638: 2633: 2628: 2624: 2620: 2619:J. Biol. Chem 2616: 2609: 2606: 2601: 2597: 2592: 2587: 2583: 2579: 2575: 2571: 2567: 2560: 2557: 2552: 2548: 2543: 2538: 2534: 2530: 2526: 2522: 2518: 2511: 2508: 2503: 2499: 2495: 2491: 2486: 2481: 2478:(2): 315–29. 2477: 2473: 2469: 2461: 2458: 2453: 2449: 2445: 2441: 2437: 2433: 2429: 2425: 2418: 2415: 2410: 2406: 2402: 2398: 2394: 2390: 2386: 2382: 2375: 2373: 2369: 2364: 2360: 2355: 2350: 2346: 2342: 2338: 2334: 2327: 2324: 2319: 2315: 2310: 2305: 2300: 2295: 2291: 2287: 2286:J. Biol. Chem 2283: 2276: 2273: 2268: 2264: 2259: 2254: 2250: 2244: 2240: 2236: 2232: 2225: 2222: 2217: 2213: 2208: 2203: 2199: 2195: 2191: 2187: 2183: 2176: 2173: 2168: 2164: 2159: 2154: 2150: 2146: 2142: 2138: 2134: 2127: 2124: 2119: 2115: 2110: 2105: 2101: 2097: 2093: 2089: 2085: 2078: 2076: 2072: 2067: 2063: 2058: 2053: 2049: 2045: 2041: 2037: 2033: 2026: 2023: 2018: 2014: 2009: 2004: 1999: 1994: 1990: 1986: 1982: 1975: 1972: 1967: 1963: 1959: 1955: 1951: 1947: 1943: 1939: 1932: 1930: 1928: 1926: 1922: 1917: 1913: 1908: 1903: 1899: 1895: 1891: 1887: 1883: 1876: 1874: 1870: 1865: 1853: 1845: 1841: 1837: 1835:9780125400688 1831: 1827: 1823: 1819: 1812: 1809: 1804: 1800: 1795: 1790: 1786: 1782: 1779:(4): 979–83. 1778: 1774: 1770: 1763: 1760: 1755: 1751: 1746: 1741: 1737: 1733: 1730:(4): 535–46. 1729: 1725: 1721: 1714: 1711: 1706: 1702: 1697: 1692: 1688: 1684: 1680: 1676: 1672: 1665: 1662: 1657: 1653: 1648: 1643: 1639: 1635: 1631: 1627: 1623: 1616: 1613: 1608: 1604: 1599: 1594: 1590: 1586: 1582: 1578: 1574: 1567: 1564: 1559: 1555: 1550: 1545: 1541: 1537: 1533: 1529: 1525: 1521: 1517: 1509: 1506: 1501: 1497: 1492: 1487: 1483: 1479: 1476:(7): 781–91. 1475: 1471: 1467: 1460: 1458: 1456: 1454: 1450: 1445: 1441: 1436: 1431: 1427: 1423: 1419: 1415: 1411: 1404: 1401: 1396: 1392: 1387: 1382: 1377: 1372: 1368: 1364: 1361:(4): e93568. 1360: 1356: 1352: 1345: 1342: 1337: 1333: 1328: 1323: 1319: 1315: 1311: 1307: 1303: 1296: 1293: 1288: 1284: 1279: 1274: 1270: 1266: 1263:(1): 113–26. 1262: 1258: 1254: 1247: 1244: 1239: 1235: 1230: 1225: 1220: 1215: 1211: 1207: 1206:Int J Mol Sci 1203: 1196: 1193: 1186: 1182: 1179: 1177: 1174: 1172: 1169: 1167: 1164: 1162: 1159: 1158: 1154: 1148: 1144: 1140: 1136: 1133: 1130: 1127: 1125: 1122: 1121: 1117: 1114: 1111: 1109: 1106: 1105: 1101: 1099: 1095: 1091: 1088: 1086: 1083: 1080: 1076: 1075: 1071: 1069: 1066: 1064: 1061: 1058: 1055: 1052: 1050: 1048: 1047:S. cerevisiae 1043:) homolog 1, 1042: 1038: 1034: 1030: 1029: 1025: 1023: 1020: 1017: 1014: 1011: 1010: 1006: 1003: 1000: 996: 993: 990: 988: 984: 980: 976: 972: 969: 968: 964: 961: 958: 955: 952: 948: 945: 944: 940: 938: 934: 931: 928: 925: 924: 920: 917: 914: 912: 909: 908: 904: 902: 898: 895: 893: 890: 889: 885: 882: 879: 875: 873: 870: 869: 865: 862: 860: 857: 855: 852: 851: 847: 845: 842: 840: 837: 835: 832: 831: 827: 825: 821: 817: 813: 809: 807: 804: 802: 799: 798: 794: 791: 788: 786: 783: 780: 777: 776: 762: 759: 757: 753: 749: 742: 740: 739:DNA synthesis 735: 731: 727: 719: 717: 715: 711: 707: 703: 699: 695: 690: 685: 683: 679: 675: 671: 662: 660: 658: 654: 650: 646: 642: 638: 634: 630: 622: 614: 612: 609: 607: 604: 603: 599: 596: 592: 588: 585: 583: 580: 579: 575: 573: 570: 568: 565: 564: 560: 558: 554: 550: 546: 543: 541: 538: 537: 533: 530:mutations in 529: 527: 523: 519: 515: 512: 510: 507: 506: 502: 500: 497: 494: 493: 489: 485: 483: 479: 476: 474: 471: 470: 466: 464: 461: 459: 456: 455: 451: 449: 446: 444: 441: 440: 437: 433: 429: 427: 424: 421: 418: 417: 413: 409: 405: 401: 399: 396: 393: 390: 389: 385: 381: 377: 373: 371: 368: 365: 362: 361: 357: 355: 351: 347: 344: 341: 338: 337: 333: 328: 326: 322: 318: 314: 311: 308: 305: 304: 300: 296: 292: 287: 283: 280: 276: 273: 270: 267: 266: 262: 258: 254: 252: 248: 245: 243: 240: 239: 235: 233: 230: 228: 225: 224: 219: 217: 214: 212: 209: 208: 204: 201: 198: 197: 193: 187: 185: 177: 173: 170: 168: 165: 163: 160: 158: 155: 152: 149: 147: 144: 142: 139: 137: 134: 132: 129: 128: 124: 122: 120: 116: 112: 108: 104: 100: 96: 95: 86: 84: 82: 78: 77: 72: 68: 66: 62: 51: 45: 44:Endocrinology 42: 40: 36: 31: 19: 5642:Nasal glioma 5632:Dermoid cyst 5601: 5595: 5584: 5583: 5568:Mastocytosis 5555: 5549:EEM syndrome 5541: 5470: 5426: 5412: 5291: 5267: 5238: 4799:skin disease 4629: 4571: 4567: 4557: 4522: 4518: 4508: 4473: 4469: 4459: 4434: 4430: 4424: 4397: 4393: 4383: 4346: 4342: 4297:(1): 14–22. 4294: 4290: 4242: 4238: 4190: 4186: 4138: 4134: 4084: 4080: 4032: 4028: 4018: 3983: 3979: 3969: 3936: 3932: 3926: 3891: 3887: 3877: 3842: 3838: 3828: 3803: 3799: 3789: 3762: 3758: 3748: 3703: 3699: 3689: 3654: 3650: 3640: 3613: 3609: 3599: 3562: 3558: 3520: 3516: 3506: 3471: 3467: 3429: 3425: 3419: 3384: 3380: 3370: 3360: 3325: 3321: 3311: 3279:(2): 55–65. 3276: 3272: 3262: 3222:(2): 47–51. 3219: 3215: 3202: 3167: 3163: 3153: 3144: 3117: 3113: 3103: 3070: 3066: 3060: 3049:. Retrieved 3042:the original 3011: 3007: 2961:(7): 780–5. 2958: 2954: 2947: 2914: 2910: 2904: 2869: 2865: 2855: 2823:(3): 311–8. 2820: 2816: 2806: 2771: 2767: 2757: 2730: 2726: 2716: 2673: 2669: 2659: 2622: 2618: 2608: 2573: 2569: 2559: 2524: 2520: 2510: 2475: 2471: 2460: 2427: 2423: 2417: 2384: 2380: 2336: 2326: 2289: 2285: 2275: 2230: 2224: 2189: 2185: 2175: 2140: 2136: 2126: 2091: 2087: 2039: 2035: 2025: 1988: 1984: 1974: 1941: 1937: 1892:(1): 62–78. 1889: 1886:J. Mol. Biol 1885: 1817: 1811: 1776: 1772: 1762: 1727: 1723: 1713: 1678: 1674: 1664: 1629: 1625: 1615: 1580: 1576: 1566: 1523: 1519: 1508: 1473: 1469: 1417: 1413: 1403: 1358: 1354: 1344: 1312:(5): 503–9. 1309: 1305: 1295: 1260: 1256: 1246: 1212:(11): 1840. 1209: 1205: 1195: 1135:Colon cancer 1096:paired with 1078: 1046: 1044: 1040: 1036: 1032: 997:repairs the 811: 745: 723: 686: 666: 626: 531: 431: 408:8-oxoguanine 380:8-oxoguanine 260: 205:Description 181: 114: 110: 92: 90: 80: 74: 69: 60: 58: 5805:Skin dimple 5414:desmoplakin 5406:ungrouped: 5293:Cathepsin C 5269:plakoglobin 4970:and related 4343:Front Genet 3610:J. Cell Sci 3328:(2): 67–9. 1018:XPV (POLH) 1005:skin cancer 999:transcribed 932:FANCA etc. 297:(without a 5875:Senescence 5855:DNA repair 5844:Categories 5235:syndromic 5158:Cutis laxa 5145:Connective 4795:integument 4791:Congenital 4568:Oncotarget 4239:Hum. Mutat 3980:Mutat. Res 3800:Mutat. Res 3517:Mutat. 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Index

Inherited human DNA repair gene mutations that increase cancer risk
Specialty
Endocrinology
Edit this on Wikidata
DNA repair
DNA
accelerated aging disease
accelerated aging disease
tissues
organs
age
biogerontologists
Ataxia-telangiectasia
Bloom syndrome
Cockayne syndrome
Fanconi anemia
Progeria
Rothmund–Thomson syndrome
Trichothiodystrophy
Werner syndrome
Xeroderma pigmentosum
progeroid syndromes
segmental progeria
ATR
Nucleotide excision repair
DNA-PKcs
Non-homologous end joining
ERCC1
Nucleotide excision repair
Interstrand cross link repair

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