69:
3032:, are now recognized as ancient organelles with essential roles in development. Von Baer's concept of embryonic recapitulation, despite refinement, underscores the evolutionary conservation of developmental processes, including ciliary function. Today, von Baer's legacy inspires ongoing research into embryology and developmental biology, particularly in understanding ciliary biology and its relevance to ciliopathies, where defects in ciliary structure or function lead to
45:
101:
are important in guiding the process of development, so abnormal ciliary function while an embryo is developing can lead to a set of malformations that can occur regardless of the particular genetic problem. The similarity of the clinical features of these developmental disorders means that they form
329:
composed of perhaps over 600 proteins in molecular complexes, many of which also function independently as nanomachines." Cilia "function as mechano- or chemosensors and as a cellular global positioning system to detect changes in the surrounding environment." For example, ciliary signaling plays a
3043:
or primary cilia were first described in 1898, they were largely ignored by biologists. However, microscopists continued to document their presence in the cells of most vertebrate organisms. The primary cilium was long consideredâwith few exceptionsâto be a largely useless evolutionary vestige, a
492:
direct mutation screening. Other techniques, such as gene panels and whole-exome sequencing and whole genome sequencing can also be used to provide distinct advantages. Gene panels analyse specific sets of genes and can be more comprehensive than single gene or direct mutation screening.
102:
a recognizable cluster of syndromes, loosely attributed to abnormal ciliary function and hence called ciliopathies. Regardless of the actual genetic cause, it is clustering of a set of characteristic physiological features which define whether a syndrome is a ciliopathy.
137:. However, the physiological role that this organelle plays in most tissues remains elusive. Additional studies of how ciliary dysfunction can lead to such severe disease and developmental pathologies is still a subject of current research.
496:
Mutations in the PKD1 and PKD2 genes which encode for polycystin-1 and polycistin-2 respectively are known to be causes of ADPKD, a ciliopathy that presents with the formation and growth of cysts in the kidneys, leading to renal failure.
452:, patients who carry mutations in genes associated with both diseases "have unique symptoms that are not seen in either condition alone." The genes linked to the two different conditions "interact with each other during development."
124:
Significant advances in understanding the importance of cilia were made in the mid-1990s. For example, the discovery of the role of cilia in embryonic development, identification of ciliary defects in genetic disorders such as
444:"Just as different genes can contribute to similar diseases, so the same genes and families of genes can play a part in a range of different diseases." For example, in just two of the diseases caused by malfunctioning cilia,
3023:
and the development of cilia-bearing tissues. While von Baer may not have fully appreciated the significance of cilia at the time, his observations likely included their presence in embryonic tissues. Cilia - crucial for
3074:. A number of critical developmental signaling pathways essential to cellular development have been discovered. These are principally but not exclusively found in the non-motile or primary cilia. A number of common
3070:
Recent advances in mammalian genetic research have made possible the understanding of a molecular basis for a number of dysfunctional mechanisms in both motile and primary cilia structures of the
2001:
1805:
337:
role in which a soluble protein is released to have an effect downstream of the fluid flow" in epithelial cells, and can of course mediate fluid flow directly in the case of motile cilia.
3008:" in rainwater, along with their tiny appendages known as cilia today. It was marked as the first recorded observation of single-celled organisms and their locomotive structures.
3494:
Tan K, Liu P, Pang L, Yang W, Hou F (2018) A human ciliopathy with polycystic ovarian syndrome and multiple subcutaneous cysts: A rare case report. Medicine (Baltimore) 97(50)
3067:
that coordinate a large number of cellular signaling pathways, sometimes coupling the signaling to ciliary motility or alternatively to cell division and differentiation."
3082:
disorders and diseases are caused by ciliary dysgenesis and dysfunction. Once identified, these characteristics thus describe a set of hallmarks of a ciliopathy.
485:
481:
145:
A wide variety of symptoms are potential clinical features of ciliopathy. The signs most exclusive to a ciliopathy, in descending order of exclusivity, are:
4307:
3019:. Through meticulous observations, von Baer provided invaluable insights into tissue and organ formation during development, including the early stages of
1431:
2258:
5176:
4757:
2746:
1575:
477:
As of 2017, 187 ciliopathy associated genes have been confirmed, while the roles of further 241 candidate genes are still being investigated.
5138:
3530:
3367:
3342:
907:
5006:
1251:
903:
4812:
3089:
involved in mammalian disease localize to the basal bodies and cilia." For example, in just a single area of human disease physiology,
1054:
1826:
2407:
3051:. Recent research has revealed that cilia are essential to many of the body's organs. These primary cilia play important roles in
2178:
1149:
5042:
4824:
1507:
565:
474:
Additionally, clinical presentations of patients with identical mutation can differ, suggesting the role of genetic modifiers.
166:
2018:
1293:
647:
2423:
1746:
5133:
2711:
2674:
761:
4975:
3747:
3663:
1592:
5123:
3233:
Powles-Glover N (September 2014). "Cilia and ciliopathies: classic examples linking phenotype and genotype-an overview".
3102:
992:
4047:
1318:
2895:
1389:
3460:
Badano JL, Mitsuma N, Beales PL, Katsanis N (2006). "The ciliopathies: an emerging class of human genetic disorders".
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Although ciliopathies are usually considered to involve proteins that localize to motile and/or immotile (primary)
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1910:
1767:
1524:
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207:
126:
3085:
Cilia have recently been implicated in a wide variety of human genetic diseases by "the discovery that numerous
1789:
1452:
4999:
4918:
3515:
Ross A, PL Beales, J Hill (2008). "The
Clinical, Molecular, and Functional Genetics of Bardet-Biedl Syndrome".
3106:
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1837:
467:
can overlap "considerably with several conditions (ciliopathies) in which primary cilia are also implicated in
1335:
2460:
3522:
3001:
2767:
2162:
2125:
2039:
4958:
3973:
3396:
Davenport JR (2005). "An incredible decade for the primary cilium: A look at a once-forgotten organelle".
3033:
2911:
1272:
1032:
471:. One emerging aspect is the wide spectrum of ciliopathy gene mutations found within different diseases."
305:
4493:
Khanna H, Davis EE, Murga-Zamalloa CA, Estrada-Cuzcano A, Lopez I, Den
Hollander AI, et al. (2009).
3916:"Molecular Diagnostics of Ciliopathies and Insights Into Novel Developments in Diagnosing Rare Diseases"
3016:
2146:
2060:
1494:
1410:
1122:
456:
are endeavoring to define functional modules containing multiple genes and then look at disorders whose
423:
365:
187:
4702:
3807:"Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR gene"
3695:"Loss of BardetâBiedl syndrome proteins causes defects in peripheral sensory innervation and function"
493:
Whole-exome/genome sequencing can screen for heterozygous carriers, and detect novel/rare variations.
3242:
3029:
2637:
2342:
2279:
1858:
1368:
412:
197:
2695:
1889:
1170:
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5113:
4992:
4391:
3012:
2879:
544:
407:
176:
68:
4392:
Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model
3998:
Shamseldin HE, Shaheen R, Ewida N, Bubshait DK, Alkuraya H, Almardawi E, et al. (June 2020).
2386:
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4738:
4683:
2815:
1985:
1703:
1235:
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44:
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4881:
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3338:
3307:
3258:
3215:
3166:
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2237:
326:
233:
153:
57:
121:
but is believed to affect ciliary function through proteolytic cleavage of ciliary proteins.
5097:
5081:
4871:
4863:
4828:
4769:
4714:
4659:
4612:
4571:
4555:
4514:
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4416:
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4356:
4270:
4011:
3945:
3927:
3881:
3865:
3818:
3805:
Walia S, Fishman GA, Swaroop A, Branham KE, Lindeman M, Othman M, et al. (March 2008).
3777:
3716:
3706:
3628:
3618:
3577:
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3469:
3405:
3330:
3297:
3289:
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3156:
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2653:
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83:
62:
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386:
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4369:
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3853:
3721:
3694:
3633:
3606:
3582:
3557:
3302:
3277:
3210:
3185:
3145:"Recent advances in the molecular pathology, cell biology and genetics of ciliopathies"
3071:
3025:
2619:
2109:
1943:
1202:
510:
211:
171:
87:
5165:
4742:
4461:
3090:
3052:
2954:
2321:
1847:
1314:
468:
375:
338:
322:
254:
192:
179:
160:
4600:
113:, it is possible for ciliopathies to be associated with unexpected proteins such as
4797:
4687:
4648:"von Baer's law for the ages: lost and found principles of developmental evolution"
4495:"A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies"
3822:
3254:
2965:
433:
354:
310:
118:
517:
and to facilitate the diagnosis and treatment of some diseases of unknown" cause.
333:
In addition to this sensory role mediating specific signaling cues, cilia play "a
4923:
3516:
3093:, cilia-related genes and proteins have been identified to have causal effect in
4972:
3744:
3671:
3409:
2932:
428:
300:
284:
270:
246:
225:
4934:
4647:
5076:
5050:
4867:
4718:
4663:
4308:"Identification of the Meckel Syndrome Gene (MKS1) Exposes a Novel Ciliopathy"
4016:
3999:
3573:
3334:
3201:
3005:
2029:
1681:
658:
394:
379:
236:
156:
110:
94:
4781:
4726:
4671:
4624:
4567:
4284:
4025:
3941:
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3830:
4559:
3932:
3806:
3711:
3161:
3144:
3075:
3048:
3045:
3015:
groundbreaking work in embryonic development laid the foundation for modern
970:
506:
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457:
350:
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265:
215:
17:
4885:
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4679:
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3838:
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3730:
3642:
3591:
3481:
3417:
3311:
3262:
3219:
3170:
4616:
3623:
4953:
4852:"The primary cilium as a cellular signaling center: lessons from disease"
4360:
4275:
4263:
American
Journal of Medical Genetics Part C: Seminars in Medical Genetics
4258:
2922:
1736:
1535:
1225:
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813:
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400:
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241:
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1021:
805:
691:
278:
114:
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2722:
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2536:
2311:
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1954:
1921:
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1559:
1219:
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859:
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745:
719:
715:
707:
703:
685:
633:
342:
90:
4984:
3782:
3765:
27:
Genetic disease resulting in abnormal formation or function of cilia
4510:
3004:
changed humanity's perspective on the world with his discovery of "
2985:
2943:
2805:
2799:
2778:
2471:
2332:
2248:
2227:
2221:
2136:
2050:
1975:
1933:
1927:
1900:
1879:
1757:
1714:
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1617:
1541:
1442:
1352:
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1013:
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927:
863:
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839:
751:
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637:
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555:
330:
role in the initiation of cellular replacement after cell damage.
106:
98:
2980:
2959:
2937:
2916:
2900:
2884:
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2832:
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2515:
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2428:
2412:
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2326:
2305:
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2242:
2215:
2199:
2183:
2167:
2151:
2130:
2114:
2098:
2083:
2077:
2071:
2065:
2044:
2023:
2007:
1990:
1969:
1948:
1915:
1894:
1873:
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1831:
1810:
1794:
1779:
1773:
1751:
1730:
1708:
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1650:
1632:
1611:
1581:
1565:
1547:
1529:
1513:
1481:
1458:
1436:
1421:
1415:
1400:
1394:
1379:
1373:
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1340:
1324:
1304:
1298:
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1262:
1256:
1240:
1207:
1191:
1175:
1154:
1139:
1133:
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1059:
1038:
997:
944:
923:
919:
913:
889:
883:
843:
833:
793:
787:
772:
766:
739:
695:
679:
664:
652:
625:
621:
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613:
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593:
587:
571:
549:
531:
345:
play a role in transferring nourishment to the non-vascularized
295:
4988:
221:
Phenotypes sometimes associated with ciliopathies can include:
357:
cells several micrometres behind the surface of the retina.
4758:"The roles of cilia in developmental disorders and disease"
1727:(microcephalic osteodysplastic primordial dwarfism type 1)
509:
that define a ciliopathy may be used to both recognize the
4259:"Making sense of cilia in disease: The human ciliopathies"
210:, multiple subcutaneous cysts, renal function impairment,
3278:"Mechanisms of Nephronophthisis and Related Ciliopathies"
1806:
Autosomal recessive spastic ataxia of
Charlevoix-Saguenay
3854:"Genes and molecular pathways underpinning ciliopathies"
3754:, Ciliaproteome V3.0 â Home Page, accessed 11 June 2010.
4446:"Advances in Genetics of Juvenile Myoclonic Epilepsies"
419:
In organisms of normal health, cilia are critical for:
3914:
Modarage K, Malik SA, Goggolidou P (10 January 2022).
4900:
5106:
5090:
5022:
4944:
4904:
56:
37:
4605:The International Journal of Developmental Biology
360:Signal transduction pathways involved include the
3766:"Biological tools revamp disease classification"
3670:. Johns Hopkins University. 2008. Archived from
3186:"The role of primary cilia in neuronal function"
3143:Adams M, Smith UM, Logan CV, Johnson CA (2008).
3063:. Cilia may thus be "viewed as sensory cellular
2002:Ectrodactylyâectodermal dysplasiaâcleft syndrome
4601:"Karl Ernst von Baer (1792â1876) and Evolution"
3693:Tan PL, Barr T, Inglis PN, et al. (2007).
3556:Satir P, Søren T. Christensen (26 March 2008).
3391:
3389:
3387:
3385:
3383:
3381:
3379:
4973:The Ciliary Proteome Web Page at Johns Hopkins
4000:"The morbid genome of ciliopathies: an update"
3510:
3508:
3506:
3504:
3502:
3500:
480:A common way to identify ciliopathies such as
5000:
4707:Current Opinion in Genetics & Development
3455:
3453:
3451:
3449:
3447:
8:
3568:(6). Springer Berlin / Heidelberg: 687â693.
3551:
3549:
3445:
3443:
3441:
3439:
3437:
3435:
3433:
3431:
3429:
3427:
488:which have known genetic causes, is through
4048:"PKD1 â an overview | ScienceDirect Topics"
3658:
3656:
3654:
3652:
3558:"Structure and function of mammalian cilia"
3138:
3136:
3134:
3132:
3130:
3128:
3126:
5007:
4993:
4985:
4901:
4709:. Molecular and genetic basis of disease.
4345:"Liver and Kidney Disease in Ciliopathies"
1474:
1102:
524:
67:
43:
34:
4875:
4575:
4518:
4469:
4420:
4368:
4274:
4015:
3949:
3931:
3885:
3781:
3720:
3710:
3632:
3622:
3581:
3301:
3209:
3160:
4756:Bisgrove BW, Yost HJ (1 November 2006).
3360:Ciliopathies: a reference for clinicians
3235:Reproductive Toxicology (Elmsford, N.Y.)
2019:Endocrineâcerebroosteodysplasia syndrome
4542:Brown JM, Witman GB (1 December 2014).
3852:Reiter JF, Leroux MR (September 2017).
3122:
93:or the cilia anchoring structures, the
4850:Lancaster MA, Gleeson JG (June 2009).
4701:Sreekumar V, Norris DP (1 June 2019).
4252:
4250:
4248:
4246:
4244:
4242:
4240:
4238:
4236:
4234:
4232:
4230:
4228:
4226:
4224:
4222:
4220:
4218:
4216:
4214:
4212:
4210:
4208:
4206:
4204:
4202:
4200:
4198:
4196:
4194:
4192:
4190:
4188:
4186:
4184:
4182:
4180:
4178:
4176:
4174:
4172:
4170:
4168:
4166:
4164:
4162:
4160:
4158:
4156:
4154:
4152:
4150:
4148:
4146:
4144:
4142:
4140:
4138:
4136:
4134:
4132:
4130:
4128:
4126:
4124:
4122:
4120:
4118:
4116:
4114:
4112:
4110:
4108:
4106:
4104:
4102:
4100:
4098:
4096:
4094:
4092:
4090:
4088:
3858:Nature Reviews. Molecular Cell Biology
3607:"The dynamic cilium in human diseases"
2747:Spondyloepiphyseal dysplasia congenita
1593:Autosomal recessive spastic paraplegia
1576:Asplenia with cardiovascular anomalies
1455:(oral-facial-digital syndrome type 6)
378:abnormalities, typically via ciliated
218:due to ciliopathy has been described.
5139:Autosomal recessive polycystic kidney
4086:
4084:
4082:
4080:
4078:
4076:
4074:
4072:
4070:
4068:
3920:British Journal of Biomedical Science
3909:
3907:
3905:
3474:10.1146/annurev.genom.7.080505.115610
7:
4403:Watnick T, Germino G (August 2003).
3325:Cowley BD, Bissler JJ, eds. (2018).
1252:Greig cephalopolysyndactyly syndrome
3362:. Oxford: Oxford University Press.
2259:LenzâMajewski hyperostotic dwarfism
3329:. New York: Springer. p. 87.
3000:In 1674â1677, the Dutch scientist
1432:Renalâhepaticâpancreatic dysplasia
353:cells from the pigment epithelial
25:
2933:Xâlinked congenital hydrocephalus
2408:Oculoauriculofrontonasal syndrome
371:Dysfunctional cilia can lead to:
4462:10.1111/j.1535-7511.2007.00171.x
4349:Am J Med Genet C Semin Med Genet
4315:National Public Health Institute
2179:Johnson neuroectodermal syndrome
1150:Acromelic frontonasal dysostosis
5043:Asphyxiating thoracic dysplasia
4825:Howard Hughes Medical Institute
4813:"The Importance of Being Cilia"
4343:Gunay-Aygun M (November 2009).
3664:"Ciliary proteome database, v3"
3562:Histochemistry and Cell Biology
3276:Hurd TW, Hildebrandt F (2011).
3184:Lee JH, Gleeson JG (May 2010).
2732:Split-hand/foot malformation 3
1508:Acrofrontofacionasal dysostosis
566:Asphyxiating thoracic dysplasia
167:Agenesis of the corpus callosum
5177:Genetic diseases and disorders
4811:Gardiner MB (September 2005).
3823:10.1001/archophthalmol.2007.72
3255:10.1016/j.reprotox.2014.05.005
2424:Oculocerebrocutaneous syndrome
1747:Cerebrofaciothoracic dysplasia
1661:Branchioâoculoâfacial syndrome
1055:Short ribâpolydactyly syndrome
1:
3605:D'Angelo A, Franco B (2009).
3518:Genetics of Obesity Syndromes
2094:Fryns microphthalmia syndrome
1035:(cranioectodermal dysplasia)
413:Paracrine signal transduction
3699:Proc. Natl. Acad. Sci. U.S.A
3358:Kenny TD, Beales PL (2014).
1770:(BaraitserâWinter syndrome)
1768:Cerebrofrontofacial syndrome
1319:oral-facial-digital syndrome
406:Issues with displacement of
275:Cognitive impairment/defects
4444:Delgado-Escueta AV (2007).
4257:Baker K, Beales PL (2009).
3410:10.1152/ajprenal.00118.2005
3149:Journal of Medical Genetics
2859:Ven den EndeâGupta syndrome
2504:Periventricular heterotopia
2440:Oculodentodigital dysplasia
2195:Juvenile myoclonic epilepsy
1965:Craniofrontonasal dysplasia
1869:ChudleyâMcCullough syndrome
1827:Chondrodysplasia punctata 2
5193:
5129:Orofaciodigital syndrome 1
5119:Primary ciliary dyskinesia
3076:observable characteristics
3028:, tissue development, and
3011:In the late 19th century,
1790:Cerebrooculonasal syndrome
1294:JohansonâBlizzard syndrome
939:Primary ciliary dyskinesia
879:Orofaciodigital syndrome 1
735:Leber congenital amaurosis
648:Ellisâvan Creveld syndrome
362:Hedgehog signaling pathway
251:Eye movement abnormalities
135:Primary ciliary dyskinesia
5147:
5134:McKusickâKaufman syndrome
5033:Polycystic kidney disease
4868:10.1016/j.gde.2009.04.008
4719:10.1016/j.gde.2019.05.002
4664:10.1016/j.tig.2013.09.004
4017:10.1038/s41436-020-0761-1
3811:Archives of Ophthalmology
3574:10.1007/s00418-008-0416-9
3335:10.1007/978-1-4939-7784-0
3327:Polycystic Kidney Disease
3202:10.1016/j.nbd.2009.12.022
3095:polycystic kidney disease
2712:SchinzelâGiedion syndrome
2675:RubinsteinâTaybi syndrome
2482:Otopalatodigital syndrome
1725:Cephaloskeletal dysplasia
1628:Basal cell nevus syndrome
900:Polycystic kidney disease
762:McKusickâKaufman syndrome
208:polycystic ovary syndrome
150:DandyâWalker malformation
127:Polycystic kidney disease
51:
42:
3462:Annu Rev Genom Hum Genet
3107:orofaciodigital syndrome
2568:Polycystic liver disease
1489:Systems/organs affected
1117:Systems/organs affected
539:Systems/organs affected
4703:"Cilia and development"
3933:10.3389/bjbs.2021.10221
3712:10.1073/pnas.0706618104
3523:Oxford University Press
3162:10.1136/jmg.2007.054999
3002:Antonie van Leeuwenhoek
2896:WalkerâWarburg syndrome
2768:Thanatophoric dysplasia
2461:OptizâKaveggia syndrome
2163:Hypothalamic hamartomas
2126:Genitopatellar syndrome
2040:Focal dermal hypoplasia
1684:(Opitz trigonocephaly)
1390:PallisterâHall syndrome
460:fit into such modules.
290:Respiratory dysfunction
230:Breathing abnormalities
202:Intellectual disability
97:, or ciliary function.
4856:Curr. Opin. Genet. Dev
4306:Kyttälä M (May 2006).
3034:developmental disorder
2976:YoungâSimpson syndrome
2912:Warburg Micro syndrome
2789:TownesâBrocks syndrome
2301:MardenâWalker syndrome
1273:Hydrolethalus syndrome
1033:Sensenbrenner syndrome
941:(Kartagener syndrome)
783:MeckelâGruber syndrome
446:MeckelâGruber syndrome
306:Sensorineural deafness
5124:SeniorâLøken syndrome
5056:BardetâBiedl syndrome
4978:29 April 2019 at the
4617:10.1387/ijdb.120018sb
4599:Brauckmann S (2012).
4560:10.1093/biosci/biu174
4052:www.sciencedirect.com
3974:"Genetic testing for"
3750:29 April 2019 at the
3668:Database introduction
3624:10.1186/1755-8417-2-3
3398:AJP: Renal Physiology
3111:BardetâBiedl syndrome
3103:SeniorâLøken syndrome
3017:developmental biology
3013:Karl Ernst von Baer's
2547:PittâHopkins syndrome
2366:MowatâWilson syndrome
2147:Hemifacial microsomia
2061:Frontonasal dysplasia
1911:CoffinâSiris syndrome
1525:AdamsâOliver syndrome
1495:Acrofacial dysostosis
1471:Possible ciliopathies
1411:Papillorenal syndrome
1123:Acrocallosal syndrome
993:SeniorâLøken syndrome
583:BardetâBiedl syndrome
513:basis of a number of
507:phenotypic parameters
450:BardetâBiedl syndrome
397:cellular dysfunction.
393:, often via ciliated
382:cellular dysfunction.
366:Wnt signaling pathway
188:Postaxial polydactyly
131:BardetâBiedl syndrome
117:, which localizes to
4544:"Cilia and Diseases"
4405:"From cilia to cyst"
4361:10.1002/ajmg.c.30225
4276:10.1002/ajmg.c.30231
4004:Genetics in Medicine
3745:The Ciliary Proteome
3282:Nephron Exp. Nephrol
3091:cystic renal disease
3030:left-right asymmetry
2638:retinitis pigmentosa
2343:Microhydranencephaly
1453:VaradiâPapp syndrome
1369:Opitz G/BBB syndrome
501:List of ciliopathies
301:Retinal degeneration
198:Retinitis pigmentosa
4646:Abzhanov A (2013).
3870:10.1038/nrm.2017.60
3247:2014RepTx..48...98P
2880:Visceral heterotaxy
1578:(Ivemark syndrome)
1336:NeuâLaxova syndrome
1099:Likely ciliopathies
1092:, reported in 2012
823:Liver, heart, bone
408:extracellular fluid
4945:External resources
4652:Trends in Genetics
4422:10.1038/ng0803-355
3978:Blueprint Genetics
3764:Hayden EC (2008).
3404:(6): F1159âF1169.
2816:Tuberous sclerosis
1986:Dysgnathia complex
1704:Carpenter syndrome
1236:Conorenal syndrome
1090:congenital anosmia
521:Known ciliopathies
454:Systems biologists
259:Hypoplasia of the
184:Polycystic kidneys
141:Signs and symptoms
5159:
5158:
5016:Diseases of cilia
4968:
4967:
4774:10.1242/dev.02595
4768:(21): 4131â4143.
4554:(12): 1126â1137.
3532:978-0-19-530016-1
3369:978-0-19-965876-3
3344:978-1-4939-7782-6
3294:10.1159/000320888
2993:
2992:
2843:VATER association
2604:Pseudotrisomy 13
2238:Kallmann syndrome
1468:
1467:
1096:
1095:
568:(Jeune syndrome)
515:genetic disorders
401:Cellular motility
234:Cerebellar vermis
154:cerebellar vermis
86:that affects the
76:
75:
52:Eukaryotic cilium
32:Medical condition
16:(Redirected from
5184:
5152:ciliary proteins
5114:AlstrĂśm syndrome
5098:Nephronophthisis
5082:Joubert syndrome
5009:
5002:
4995:
4986:
4902:
4890:
4889:
4879:
4847:
4841:
4840:
4838:
4836:
4831:on 11 March 2010
4827:. Archived from
4808:
4802:
4801:
4753:
4747:
4746:
4698:
4692:
4691:
4643:
4637:
4636:
4596:
4590:
4589:
4579:
4539:
4533:
4532:
4522:
4490:
4484:
4483:
4473:
4441:
4435:
4434:
4424:
4400:
4394:
4389:
4383:
4382:
4372:
4340:
4334:
4333:
4331:
4329:
4323:
4317:. Archived from
4312:
4303:
4297:
4296:
4278:
4254:
4063:
4062:
4060:
4058:
4044:
4038:
4037:
4019:
4010:(6): 1051â1060.
3995:
3989:
3988:
3986:
3984:
3970:
3964:
3963:
3953:
3935:
3911:
3900:
3899:
3889:
3849:
3843:
3842:
3802:
3796:
3795:
3785:
3761:
3755:
3741:
3735:
3734:
3724:
3714:
3690:
3684:
3683:
3681:
3679:
3674:on 29 April 2019
3660:
3647:
3646:
3636:
3626:
3602:
3596:
3595:
3585:
3553:
3544:
3543:
3541:
3539:
3512:
3495:
3492:
3486:
3485:
3457:
3422:
3421:
3393:
3374:
3373:
3355:
3349:
3348:
3322:
3316:
3315:
3305:
3273:
3267:
3266:
3230:
3224:
3223:
3213:
3181:
3175:
3174:
3164:
3140:
3099:nephronophthisis
3057:mechanosensation
2654:Robinow syndrome
2584:Proteus syndrome
2526:Perlman syndrome
1606:Barakat syndrome
1475:
1187:Biemond syndrome
1103:
829:Nephronophthisis
675:Joubert syndrome
545:AlstrĂśm syndrome
525:
490:linkage analysis
391:mechanosensation
321:"In effect, the
84:genetic disorder
72:
71:
63:Medical genetics
47:
35:
21:
5192:
5191:
5187:
5186:
5185:
5183:
5182:
5181:
5162:
5161:
5160:
5155:
5143:
5107:Other/ungrouped
5102:
5086:
5069:Meckel syndrome
5064:mitotic spindle
5018:
5013:
4980:Wayback Machine
4969:
4964:
4963:
4940:
4939:
4913:
4899:
4894:
4893:
4849:
4848:
4844:
4834:
4832:
4810:
4809:
4805:
4755:
4754:
4750:
4700:
4699:
4695:
4658:(12): 712â722.
4645:
4644:
4640:
4598:
4597:
4593:
4541:
4540:
4536:
4499:Nature Genetics
4492:
4491:
4487:
4443:
4442:
4438:
4402:
4401:
4397:
4390:
4386:
4342:
4341:
4337:
4327:
4325:
4324:on 21 July 2006
4321:
4310:
4305:
4304:
4300:
4256:
4255:
4066:
4056:
4054:
4046:
4045:
4041:
3997:
3996:
3992:
3982:
3980:
3972:
3971:
3967:
3913:
3912:
3903:
3851:
3850:
3846:
3804:
3803:
3799:
3783:10.1038/453709a
3763:
3762:
3758:
3752:Wayback Machine
3742:
3738:
3705:(44): 17524â9.
3692:
3691:
3687:
3677:
3675:
3662:
3661:
3650:
3604:
3603:
3599:
3555:
3554:
3547:
3537:
3535:
3533:
3525:. p. 177.
3514:
3513:
3498:
3493:
3489:
3459:
3458:
3425:
3395:
3394:
3377:
3370:
3357:
3356:
3352:
3345:
3324:
3323:
3319:
3275:
3274:
3270:
3232:
3231:
3227:
3183:
3182:
3178:
3142:
3141:
3124:
3119:
3061:thermosensation
2998:
2280:Lissencephaly 3
2211:Kabuki syndrome
1890:Câlike syndrome
1608:(HDR syndrome)
1473:
1101:
523:
503:
442:
387:thermosensation
319:
317:Pathophysiology
261:corpus callosum
159:, usually with
143:
66:
33:
28:
23:
22:
15:
12:
11:
5:
5190:
5188:
5180:
5179:
5174:
5164:
5163:
5157:
5156:
5148:
5145:
5144:
5142:
5141:
5136:
5131:
5126:
5121:
5116:
5110:
5108:
5104:
5103:
5101:
5100:
5094:
5092:
5088:
5087:
5085:
5084:
5072:
5071:
5059:
5058:
5046:
5045:
5036:
5035:
5026:
5024:
5020:
5019:
5014:
5012:
5011:
5004:
4997:
4989:
4983:
4982:
4966:
4965:
4962:
4961:
4949:
4948:
4946:
4942:
4941:
4938:
4937:
4926:
4914:
4909:
4908:
4906:
4905:Classification
4898:
4897:External links
4895:
4892:
4891:
4842:
4803:
4748:
4693:
4638:
4611:(9): 653â660.
4591:
4534:
4511:10.1038/ng.366
4505:(6): 739â745.
4485:
4436:
4395:
4384:
4355:(4): 296â306.
4335:
4298:
4269:(4): 281â295.
4064:
4039:
3990:
3965:
3901:
3864:(9): 533â547.
3844:
3817:(3): 379â384.
3797:
3756:
3736:
3685:
3648:
3597:
3545:
3531:
3496:
3487:
3423:
3375:
3368:
3350:
3343:
3317:
3268:
3225:
3190:Neurobiol. Dis
3176:
3155:(5): 257â267.
3121:
3120:
3118:
3115:
3053:chemosensation
3026:cell signaling
2997:
2994:
2991:
2990:
2988:
2983:
2978:
2972:
2971:
2969:
2962:
2957:
2950:
2949:
2947:
2940:
2935:
2929:
2928:
2926:
2919:
2914:
2908:
2907:
2905:
2903:
2898:
2892:
2891:
2889:
2887:
2882:
2876:
2875:
2873:
2866:
2861:
2855:
2854:
2852:
2850:
2845:
2839:
2838:
2836:
2823:
2818:
2812:
2811:
2809:
2796:
2791:
2785:
2784:
2782:
2775:
2770:
2764:
2763:
2761:
2754:
2749:
2743:
2742:
2740:
2738:
2733:
2729:
2728:
2726:
2719:
2714:
2708:
2707:
2705:
2703:
2698:
2696:Sakoda complex
2692:
2691:
2689:
2682:
2677:
2671:
2670:
2668:
2661:
2656:
2650:
2649:
2647:
2645:
2640:
2636:Some forms of
2633:
2632:
2630:
2628:
2623:
2620:cone dystrophy
2615:
2614:
2612:
2610:
2605:
2601:
2600:
2598:
2591:
2586:
2580:
2579:
2577:
2575:
2570:
2564:
2563:
2561:
2554:
2549:
2543:
2542:
2540:
2533:
2528:
2522:
2521:
2519:
2512:
2507:
2500:
2499:
2497:
2490:
2485:
2478:
2477:
2475:
2468:
2463:
2457:
2456:
2454:
2447:
2442:
2436:
2435:
2433:
2431:
2426:
2420:
2419:
2417:
2415:
2410:
2404:
2403:
2401:
2394:
2389:
2383:
2382:
2380:
2373:
2368:
2362:
2361:
2359:
2352:
2347:
2339:
2338:
2336:
2329:
2324:
2318:
2317:
2315:
2308:
2303:
2297:
2296:
2294:
2287:
2282:
2276:
2275:
2273:
2266:
2261:
2255:
2254:
2252:
2245:
2240:
2234:
2233:
2231:
2218:
2213:
2207:
2206:
2204:
2202:
2197:
2191:
2190:
2188:
2186:
2181:
2175:
2174:
2172:
2170:
2165:
2159:
2158:
2156:
2154:
2149:
2143:
2142:
2140:
2133:
2128:
2122:
2121:
2119:
2117:
2112:
2110:Fryns syndrome
2106:
2105:
2103:
2101:
2096:
2090:
2089:
2087:
2068:
2063:
2057:
2056:
2054:
2047:
2042:
2036:
2035:
2033:
2026:
2021:
2015:
2014:
2012:
2010:
2005:
1998:
1997:
1995:
1993:
1988:
1982:
1981:
1979:
1972:
1967:
1961:
1960:
1958:
1951:
1946:
1944:Cohen syndrome
1940:
1939:
1937:
1918:
1913:
1907:
1906:
1904:
1897:
1892:
1886:
1885:
1883:
1876:
1871:
1865:
1864:
1862:
1855:
1850:
1844:
1843:
1841:
1834:
1829:
1823:
1822:
1820:
1813:
1808:
1802:
1801:
1799:
1797:
1792:
1786:
1785:
1783:
1776:
1771:
1764:
1763:
1761:
1754:
1749:
1743:
1742:
1740:
1733:
1728:
1721:
1720:
1718:
1711:
1706:
1700:
1699:
1697:
1690:
1685:
1678:
1677:
1675:
1668:
1663:
1657:
1656:
1654:
1635:
1630:
1624:
1623:
1621:
1614:
1609:
1602:
1601:
1599:
1597:
1595:
1589:
1588:
1586:
1584:
1579:
1572:
1571:
1569:
1532:
1527:
1521:
1520:
1518:
1516:
1511:
1504:
1503:
1501:
1499:
1497:
1491:
1490:
1487:
1484:
1479:
1472:
1469:
1466:
1465:
1463:
1461:
1456:
1449:
1448:
1446:
1439:
1434:
1428:
1427:
1425:
1418:
1413:
1407:
1406:
1404:
1397:
1392:
1386:
1385:
1383:
1376:
1371:
1365:
1364:
1362:
1343:
1338:
1332:
1331:
1329:
1327:
1322:
1311:
1310:
1308:
1301:
1296:
1290:
1289:
1287:
1280:
1275:
1269:
1268:
1266:
1259:
1254:
1248:
1247:
1245:
1243:
1238:
1232:
1231:
1229:
1210:
1205:
1203:COACH syndrome
1199:
1198:
1196:
1194:
1189:
1183:
1182:
1180:
1178:
1173:
1171:Arima syndrome
1167:
1166:
1164:
1157:
1152:
1146:
1145:
1143:
1130:
1125:
1119:
1118:
1115:
1112:
1107:
1100:
1097:
1094:
1093:
1088:Novel form of
1086:
1079:
1076:
1072:
1071:
1069:
1062:
1057:
1051:
1050:
1048:
1041:
1036:
1029:
1028:
1025:
1000:
995:
989:
988:
986:
947:
942:
935:
934:
931:
916:
911:
896:
895:
893:
886:
881:
875:
874:
871:
836:
831:
825:
824:
821:
790:
785:
779:
778:
776:
769:
764:
758:
757:
755:
742:
737:
731:
730:
727:
682:
677:
671:
670:
668:
655:
650:
644:
643:
641:
590:
585:
579:
578:
576:
574:
569:
562:
561:
559:
552:
547:
541:
540:
537:
534:
529:
522:
519:
502:
499:
441:
438:
437:
436:
431:
426:
417:
416:
410:
404:
398:
383:
376:Chemosensation
318:
315:
314:
313:
308:
303:
298:
296:cystic disease
292:
287:
281:
276:
273:
268:
263:
257:
252:
249:
244:
239:
231:
228:
212:Caroli disease
204:
203:
200:
195:
190:
185:
182:
174:
172:Situs inversus
169:
164:
142:
139:
74:
73:
60:
54:
53:
49:
48:
40:
39:
31:
26:
24:
14:
13:
10:
9:
6:
4:
3:
2:
5189:
5178:
5175:
5173:
5170:
5169:
5167:
5154:
5153:
5146:
5140:
5137:
5135:
5132:
5130:
5127:
5125:
5122:
5120:
5117:
5115:
5112:
5111:
5109:
5105:
5099:
5096:
5095:
5093:
5089:
5083:
5079:
5078:
5074:
5073:
5070:
5067:
5065:
5061:
5060:
5057:
5053:
5052:
5048:
5047:
5044:
5041:
5038:
5037:
5034:
5031:
5028:
5027:
5025:
5021:
5017:
5010:
5005:
5003:
4998:
4996:
4991:
4990:
4987:
4981:
4977:
4974:
4971:
4970:
4960:
4956:
4955:
4951:
4950:
4947:
4943:
4936:
4932:
4931:
4927:
4925:
4921:
4920:
4916:
4915:
4912:
4907:
4903:
4896:
4887:
4883:
4878:
4873:
4869:
4865:
4861:
4857:
4853:
4846:
4843:
4830:
4826:
4822:
4818:
4817:HHMI Bulletin
4814:
4807:
4804:
4799:
4795:
4791:
4787:
4783:
4779:
4775:
4771:
4767:
4763:
4759:
4752:
4749:
4744:
4740:
4736:
4732:
4728:
4724:
4720:
4716:
4712:
4708:
4704:
4697:
4694:
4689:
4685:
4681:
4677:
4673:
4669:
4665:
4661:
4657:
4653:
4649:
4642:
4639:
4634:
4630:
4626:
4622:
4618:
4614:
4610:
4606:
4602:
4595:
4592:
4587:
4583:
4578:
4573:
4569:
4565:
4561:
4557:
4553:
4549:
4545:
4538:
4535:
4530:
4526:
4521:
4516:
4512:
4508:
4504:
4500:
4496:
4489:
4486:
4481:
4477:
4472:
4467:
4463:
4459:
4455:
4451:
4450:Epilepsy Curr
4447:
4440:
4437:
4432:
4428:
4423:
4418:
4414:
4410:
4406:
4399:
4396:
4393:
4388:
4385:
4380:
4376:
4371:
4366:
4362:
4358:
4354:
4350:
4346:
4339:
4336:
4320:
4316:
4309:
4302:
4299:
4294:
4290:
4286:
4282:
4277:
4272:
4268:
4264:
4260:
4253:
4251:
4249:
4247:
4245:
4243:
4241:
4239:
4237:
4235:
4233:
4231:
4229:
4227:
4225:
4223:
4221:
4219:
4217:
4215:
4213:
4211:
4209:
4207:
4205:
4203:
4201:
4199:
4197:
4195:
4193:
4191:
4189:
4187:
4185:
4183:
4181:
4179:
4177:
4175:
4173:
4171:
4169:
4167:
4165:
4163:
4161:
4159:
4157:
4155:
4153:
4151:
4149:
4147:
4145:
4143:
4141:
4139:
4137:
4135:
4133:
4131:
4129:
4127:
4125:
4123:
4121:
4119:
4117:
4115:
4113:
4111:
4109:
4107:
4105:
4103:
4101:
4099:
4097:
4095:
4093:
4091:
4089:
4087:
4085:
4083:
4081:
4079:
4077:
4075:
4073:
4071:
4069:
4065:
4053:
4049:
4043:
4040:
4035:
4031:
4027:
4023:
4018:
4013:
4009:
4005:
4001:
3994:
3991:
3979:
3975:
3969:
3966:
3961:
3957:
3952:
3947:
3943:
3939:
3934:
3929:
3925:
3921:
3917:
3910:
3908:
3906:
3902:
3897:
3893:
3888:
3883:
3879:
3875:
3871:
3867:
3863:
3859:
3855:
3848:
3845:
3840:
3836:
3832:
3828:
3824:
3820:
3816:
3812:
3808:
3801:
3798:
3793:
3789:
3784:
3779:
3776:(7196): 709.
3775:
3771:
3767:
3760:
3757:
3753:
3749:
3746:
3740:
3737:
3732:
3728:
3723:
3718:
3713:
3708:
3704:
3700:
3696:
3689:
3686:
3673:
3669:
3665:
3659:
3657:
3655:
3653:
3649:
3644:
3640:
3635:
3630:
3625:
3620:
3616:
3612:
3611:Pathogenetics
3608:
3601:
3598:
3593:
3589:
3584:
3579:
3575:
3571:
3567:
3563:
3559:
3552:
3550:
3546:
3534:
3528:
3524:
3520:
3519:
3511:
3509:
3507:
3505:
3503:
3501:
3497:
3491:
3488:
3483:
3479:
3475:
3471:
3467:
3463:
3456:
3454:
3452:
3450:
3448:
3446:
3444:
3442:
3440:
3438:
3436:
3434:
3432:
3430:
3428:
3424:
3419:
3415:
3411:
3407:
3403:
3399:
3392:
3390:
3388:
3386:
3384:
3382:
3380:
3376:
3371:
3365:
3361:
3354:
3351:
3346:
3340:
3336:
3332:
3328:
3321:
3318:
3313:
3309:
3304:
3299:
3295:
3291:
3288:(1): e9âe14.
3287:
3283:
3279:
3272:
3269:
3264:
3260:
3256:
3252:
3248:
3244:
3240:
3236:
3229:
3226:
3221:
3217:
3212:
3207:
3203:
3199:
3196:(2): 167â72.
3195:
3191:
3187:
3180:
3177:
3172:
3168:
3163:
3158:
3154:
3150:
3146:
3139:
3137:
3135:
3133:
3131:
3129:
3127:
3123:
3116:
3114:
3112:
3108:
3104:
3100:
3096:
3092:
3088:
3083:
3081:
3078:of mammalian
3077:
3073:
3068:
3066:
3062:
3058:
3054:
3050:
3047:
3042:
3037:
3035:
3031:
3027:
3022:
3021:embryogenesis
3018:
3014:
3009:
3007:
3003:
2995:
2989:
2987:
2984:
2982:
2979:
2977:
2974:
2973:
2970:
2968:
2967:
2963:
2961:
2958:
2956:
2955:lissencephaly
2952:
2951:
2948:
2946:
2945:
2941:
2939:
2936:
2934:
2931:
2930:
2927:
2925:
2924:
2920:
2918:
2915:
2913:
2910:
2909:
2906:
2904:
2902:
2899:
2897:
2894:
2893:
2890:
2888:
2886:
2883:
2881:
2878:
2877:
2874:
2872:
2871:
2867:
2865:
2862:
2860:
2857:
2856:
2853:
2851:
2849:
2846:
2844:
2841:
2840:
2837:
2835:
2834:
2829:
2828:
2824:
2822:
2819:
2817:
2814:
2813:
2810:
2808:
2807:
2802:
2801:
2797:
2795:
2792:
2790:
2787:
2786:
2783:
2781:
2780:
2776:
2774:
2771:
2769:
2766:
2765:
2762:
2760:
2759:
2755:
2753:
2750:
2748:
2745:
2744:
2741:
2739:
2737:
2734:
2731:
2730:
2727:
2725:
2724:
2720:
2718:
2715:
2713:
2710:
2709:
2706:
2704:
2702:
2699:
2697:
2694:
2693:
2690:
2688:
2687:
2683:
2681:
2678:
2676:
2673:
2672:
2669:
2667:
2666:
2662:
2660:
2657:
2655:
2652:
2651:
2648:
2646:
2644:
2641:
2639:
2635:
2634:
2631:
2629:
2627:
2624:
2621:
2617:
2616:
2613:
2611:
2609:
2606:
2603:
2602:
2599:
2597:
2596:
2592:
2590:
2587:
2585:
2582:
2581:
2578:
2576:
2574:
2571:
2569:
2566:
2565:
2562:
2560:
2559:
2555:
2553:
2550:
2548:
2545:
2544:
2541:
2539:
2538:
2534:
2532:
2529:
2527:
2524:
2523:
2520:
2518:
2517:
2513:
2511:
2508:
2505:
2502:
2501:
2498:
2496:
2495:
2491:
2489:
2486:
2483:
2480:
2479:
2476:
2474:
2473:
2469:
2467:
2464:
2462:
2459:
2458:
2455:
2453:
2452:
2448:
2446:
2443:
2441:
2438:
2437:
2434:
2432:
2430:
2427:
2425:
2422:
2421:
2418:
2416:
2414:
2411:
2409:
2406:
2405:
2402:
2400:
2399:
2395:
2393:
2390:
2388:
2385:
2384:
2381:
2379:
2378:
2374:
2372:
2369:
2367:
2364:
2363:
2360:
2358:
2357:
2353:
2351:
2348:
2346:
2344:
2341:
2340:
2337:
2335:
2334:
2330:
2328:
2325:
2323:
2322:MASA syndrome
2320:
2319:
2316:
2314:
2313:
2309:
2307:
2304:
2302:
2299:
2298:
2295:
2293:
2292:
2288:
2286:
2283:
2281:
2278:
2277:
2274:
2272:
2271:
2267:
2265:
2262:
2260:
2257:
2256:
2253:
2251:
2250:
2246:
2244:
2241:
2239:
2236:
2235:
2232:
2230:
2229:
2224:
2223:
2219:
2217:
2214:
2212:
2209:
2208:
2205:
2203:
2201:
2198:
2196:
2193:
2192:
2189:
2187:
2185:
2182:
2180:
2177:
2176:
2173:
2171:
2169:
2166:
2164:
2161:
2160:
2157:
2155:
2153:
2150:
2148:
2145:
2144:
2141:
2139:
2138:
2134:
2132:
2129:
2127:
2124:
2123:
2120:
2118:
2116:
2113:
2111:
2108:
2107:
2104:
2102:
2100:
2097:
2095:
2092:
2091:
2088:
2086:
2085:
2080:
2079:
2074:
2073:
2069:
2067:
2064:
2062:
2059:
2058:
2055:
2053:
2052:
2048:
2046:
2043:
2041:
2038:
2037:
2034:
2032:
2031:
2027:
2025:
2022:
2020:
2017:
2016:
2013:
2011:
2009:
2006:
2003:
2000:
1999:
1996:
1994:
1992:
1989:
1987:
1984:
1983:
1980:
1978:
1977:
1973:
1971:
1968:
1966:
1963:
1962:
1959:
1957:
1956:
1952:
1950:
1947:
1945:
1942:
1941:
1938:
1936:
1935:
1930:
1929:
1924:
1923:
1919:
1917:
1914:
1912:
1909:
1908:
1905:
1903:
1902:
1898:
1896:
1893:
1891:
1888:
1887:
1884:
1882:
1881:
1877:
1875:
1872:
1870:
1867:
1866:
1863:
1861:
1860:
1856:
1854:
1851:
1849:
1848:Choroideremia
1846:
1845:
1842:
1840:
1839:
1835:
1833:
1830:
1828:
1825:
1824:
1821:
1819:
1818:
1814:
1812:
1809:
1807:
1804:
1803:
1800:
1798:
1796:
1793:
1791:
1788:
1787:
1784:
1782:
1781:
1777:
1775:
1772:
1769:
1766:
1765:
1762:
1760:
1759:
1755:
1753:
1750:
1748:
1745:
1744:
1741:
1739:
1738:
1734:
1732:
1729:
1726:
1723:
1722:
1719:
1717:
1716:
1712:
1710:
1707:
1705:
1702:
1701:
1698:
1696:
1695:
1691:
1689:
1686:
1683:
1680:
1679:
1676:
1674:
1673:
1669:
1667:
1664:
1662:
1659:
1658:
1655:
1653:
1652:
1647:
1646:
1641:
1640:
1636:
1634:
1631:
1629:
1626:
1625:
1622:
1620:
1619:
1615:
1613:
1610:
1607:
1604:
1603:
1600:
1598:
1596:
1594:
1591:
1590:
1587:
1585:
1583:
1580:
1577:
1574:
1573:
1570:
1568:
1567:
1562:
1561:
1556:
1555:
1550:
1549:
1544:
1543:
1538:
1537:
1533:
1531:
1528:
1526:
1523:
1522:
1519:
1517:
1515:
1512:
1509:
1506:
1505:
1502:
1500:
1498:
1496:
1493:
1492:
1488:
1485:
1483:
1480:
1477:
1476:
1470:
1464:
1462:
1460:
1457:
1454:
1451:
1450:
1447:
1445:
1444:
1440:
1438:
1435:
1433:
1430:
1429:
1426:
1424:
1423:
1419:
1417:
1414:
1412:
1409:
1408:
1405:
1403:
1402:
1398:
1396:
1393:
1391:
1388:
1387:
1384:
1382:
1381:
1377:
1375:
1372:
1370:
1367:
1366:
1363:
1361:
1360:
1355:
1354:
1349:
1348:
1344:
1342:
1339:
1337:
1334:
1333:
1330:
1328:
1326:
1323:
1320:
1316:
1315:Mohr syndrome
1313:
1312:
1309:
1307:
1306:
1302:
1300:
1297:
1295:
1292:
1291:
1288:
1286:
1285:
1281:
1279:
1276:
1274:
1271:
1270:
1267:
1265:
1264:
1260:
1258:
1255:
1253:
1250:
1249:
1246:
1244:
1242:
1239:
1237:
1234:
1233:
1230:
1228:
1227:
1222:
1221:
1216:
1215:
1211:
1209:
1206:
1204:
1201:
1200:
1197:
1195:
1193:
1190:
1188:
1185:
1184:
1181:
1179:
1177:
1174:
1172:
1169:
1168:
1165:
1163:
1162:
1158:
1156:
1153:
1151:
1148:
1147:
1144:
1142:
1141:
1136:
1135:
1131:
1129:
1126:
1124:
1121:
1120:
1116:
1113:
1111:
1108:
1105:
1104:
1098:
1091:
1087:
1085:
1084:
1080:
1077:
1074:
1073:
1070:
1068:
1067:
1063:
1061:
1058:
1056:
1053:
1052:
1049:
1047:
1046:
1042:
1040:
1037:
1034:
1031:
1030:
1026:
1024:
1023:
1019:
1015:
1011:
1006:
1005:
1001:
999:
996:
994:
991:
990:
987:
985:
984:
980:
976:
972:
968:
964:
960:
956:
952:
948:
946:
943:
940:
937:
936:
932:
930:
929:
925:
921:
917:
915:
912:
909:
905:
901:
898:
897:
894:
892:
891:
887:
885:
882:
880:
877:
876:
872:
870:
869:
865:
861:
857:
853:
849:
845:
841:
837:
835:
832:
830:
827:
826:
822:
820:
819:
815:
811:
807:
802:
801:
796:
795:
791:
789:
786:
784:
781:
780:
777:
775:
774:
770:
768:
765:
763:
760:
759:
756:
754:
753:
748:
747:
743:
741:
738:
736:
733:
732:
728:
726:
725:
721:
717:
713:
709:
705:
701:
697:
693:
688:
687:
683:
681:
678:
676:
673:
672:
669:
667:
666:
661:
660:
656:
654:
651:
649:
646:
645:
642:
640:
639:
635:
631:
627:
623:
619:
615:
611:
607:
603:
599:
595:
591:
589:
586:
584:
581:
580:
577:
575:
573:
570:
567:
564:
563:
560:
558:
557:
553:
551:
548:
546:
543:
542:
538:
535:
533:
530:
527:
526:
520:
518:
516:
512:
508:
500:
498:
494:
491:
487:
483:
478:
475:
472:
470:
469:pathogenicity
466:
463:A particular
461:
459:
455:
451:
447:
439:
435:
432:
430:
427:
425:
422:
421:
420:
415:abnormalities
414:
411:
409:
405:
402:
399:
396:
392:
388:
384:
381:
377:
374:
373:
372:
369:
367:
363:
358:
356:
352:
348:
344:
340:
339:Primary cilia
336:
331:
328:
324:
323:motile cilium
316:
312:
309:
307:
304:
302:
299:
297:
293:
291:
288:
286:
282:
280:
277:
274:
272:
269:
267:
264:
262:
258:
256:
255:Hydrocephalus
253:
250:
248:
245:
243:
240:
238:
235:
232:
229:
227:
224:
223:
222:
219:
217:
213:
209:
201:
199:
196:
194:
193:Liver disease
191:
189:
186:
183:
181:
180:encephalocele
178:
175:
173:
170:
168:
165:
162:
161:hydrocephalus
158:
155:
151:
148:
147:
146:
140:
138:
136:
132:
128:
122:
120:
116:
112:
108:
103:
100:
99:Primary cilia
96:
92:
89:
85:
81:
70:
64:
61:
59:
55:
50:
46:
41:
36:
30:
19:
5149:
5075:
5062:
5049:
5039:
5029:
5015:
4952:
4928:
4917:
4862:(3): 220â9.
4859:
4855:
4845:
4833:. Retrieved
4829:the original
4820:
4816:
4806:
4765:
4761:
4751:
4710:
4706:
4696:
4655:
4651:
4641:
4608:
4604:
4594:
4551:
4547:
4537:
4502:
4498:
4488:
4453:
4449:
4439:
4415:(4): 355â6.
4412:
4408:
4398:
4387:
4352:
4348:
4338:
4326:. Retrieved
4319:the original
4314:
4301:
4266:
4262:
4055:. Retrieved
4051:
4042:
4007:
4003:
3993:
3981:. Retrieved
3977:
3968:
3923:
3919:
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3672:the original
3667:
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3594:. 1432-119X.
3565:
3561:
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3517:
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3189:
3179:
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3069:
3040:
3038:
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2964:
2942:
2921:
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2798:
2777:
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2721:
2684:
2663:
2593:
2556:
2535:
2514:
2492:
2470:
2449:
2396:
2387:NDH syndrome
2375:
2354:
2345:
2331:
2310:
2289:
2268:
2247:
2226:
2220:
2135:
2082:
2076:
2070:
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1953:
1932:
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1920:
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462:
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434:reproduction
418:
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359:
355:vascularized
332:
320:
311:Spina bifida
220:
206:A case with
205:
144:
123:
119:mitochondria
104:
95:basal bodies
79:
77:
29:
18:Ciliopathies
4762:Development
4456:(3): 61â7.
4057:15 February
3983:15 February
3109:type 1 and
3006:animalcules
429:homeostasis
424:development
403:dysfunction
327:nanomachine
285:polydactyly
271:Infertility
247:Exencephaly
226:Anencephaly
111:centrosomes
5172:Ciliopathy
5166:Categories
5150:See also:
5077:centrosome
5051:basal body
5023:Structural
4930:DiseasesDB
4548:BioScience
4409:Nat. Genet
3743:of organs
3468:: 125â48.
3241:: 98â105.
3117:References
3041:non-motile
1682:C syndrome
1478:Condition
1106:Condition
528:Condition
458:phenotypes
395:epithelial
385:Defective
380:epithelial
237:hypoplasia
214:and liver
157:hypoplasia
80:ciliopathy
38:Ciliopathy
5091:Signaling
5030:receptor:
4782:1477-9129
4743:189898579
4727:0959-437X
4713:: 15â21.
4672:0168-9525
4625:0214-6282
4568:1525-3244
4285:1552-4876
4026:1530-0366
3942:0967-4845
3926:: 10221.
3878:1471-0072
3831:0003-9950
3678:7 January
3049:organelle
3046:vestigial
3039:Although
2953:Xâlinked
2506:Xâlinked
465:phenotype
335:secretory
266:Hypotonia
216:cirrhosis
177:Posterior
58:Specialty
4976:Archived
4954:Orphanet
4886:19477114
4790:17021045
4735:31201996
4680:24120296
4633:23319342
4586:25960570
4529:19430481
4480:17520076
4431:12923538
4379:19876928
4293:19876933
4034:32055034
3960:35996505
3896:28698599
3839:18332319
3792:18528360
3748:Archived
3731:17959775
3643:19439065
3617:(1): 3.
3592:18365235
3482:16722803
3418:16275743
3312:21071979
3263:24859270
3220:20097287
3171:18178628
3105:type 5,
3087:proteins
3065:antennae
2923:RAB3GAP1
2618:Retinal
1737:RNU4ATAC
1536:ARHGAP31
1486:Gene(s)
1321:type 2)
1226:RPGRIP1L
1114:Gene(s)
868:RPGRIP1L
814:RPGRIP1L
712:RPGRIP1L
536:Gene(s)
511:cellular
440:Genetics
364:and the
242:Diabetes
88:cellular
4924:D002925
4877:2953615
4835:26 July
4798:9975220
4688:9158143
4577:4420261
4520:2783476
4471:1874323
4370:2919058
3951:8915726
3887:5851292
3722:2077289
3634:2694804
3583:2386530
3303:2992643
3243:Bibcode
3211:2953617
3080:genetic
2996:History
2004:type 1
1066:DYNC2H1
1022:SDCCAG8
933:Kidney
873:Kidney
806:TMEM216
692:TMEM216
341:in the
279:Obesity
115:XPNPEP3
82:is any
5040:cargo:
4959:363250
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4328:6 July
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2960:300067
2938:307000
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2901:236670
2885:606325
2870:SCARF2
2864:600920
2848:192350
2821:191100
2794:107480
2773:187600
2758:COL2A1
2752:183900
2736:246560
2723:SETBP1
2717:269150
2701:610871
2686:CREBBP
2680:180849
2659:268310
2643:268000
2626:180020
2608:264480
2589:176920
2573:174050
2552:610954
2537:DIS3L2
2531:267000
2510:300049
2488:304120
2466:305450
2445:164200
2429:164180
2413:601452
2392:610199
2371:235730
2350:605013
2327:303350
2312:PIEZO2
2306:248700
2291:TUBA1A
2285:611603
2270:PTDSS1
2264:151050
2243:308700
2216:147920
2200:254770
2184:147770
2168:241800
2152:164210
2131:606170
2115:229850
2099:600776
2066:136760
2045:305600
2024:612651
2008:129900
1991:202650
1970:304110
1955:VPS13B
1949:216550
1922:ARID1B
1916:135900
1895:605039
1874:604213
1853:303100
1832:302960
1811:270550
1795:605627
1774:243310
1752:213980
1731:210710
1709:201000
1688:211750
1672:TFAP2A
1666:113620
1633:109400
1612:146255
1582:208530
1560:NOTCH1
1530:100300
1514:239710
1459:277170
1437:208540
1416:120330
1395:146510
1374:300000
1341:256520
1325:252100
1299:243800
1278:236680
1257:175700
1241:266920
1220:CC2D2A
1214:TMEM67
1208:216360
1192:113400
1176:243910
1161:ZSWIM6
1155:603671
1128:200990
1060:613091
1045:IFT122
1039:218330
1018:CEP290
998:266900
983:LRRC50
975:RSPH4A
963:DNAH11
959:TXNDC3
945:244400
914:173900
884:311200
860:CEP290
834:256100
818:CC2D2A
810:CEP290
800:TMEM67
788:249000
767:236700
746:GUCY2D
740:204000
729:Brain
720:CC2D2A
716:ARL13B
708:TMEM67
704:CEP290
686:INPP5E
680:213300
653:225500
634:TRIM32
588:209900
572:208500
550:203800
343:retina
294:Renal
283:Other
65:
4935:29887
4823:(2).
4794:S2CID
4739:S2CID
4684:S2CID
4322:(PDF)
4311:(PDF)
2986:KAT6B
2944:L1CAM
2806:DACT1
2800:SALL1
2779:FGFR3
2472:MED12
2398:GLIS3
2333:L1CAM
2249:ANOS1
2228:KDM6A
2222:KMT2D
2137:KAT6B
2051:PORCN
1976:EFNB1
1934:ARID2
1928:SOX11
1901:ASXL1
1880:GPSM2
1758:TMCO1
1715:RAB23
1645:PTCH2
1639:PTCH1
1618:GATA3
1542:DOCK6
1443:NPHP3
1353:PSAT1
1347:PHGDH
1284:HYLS1
1083:IFT88
1014:IQCB1
1010:NPHP4
1004:NPHP1
979:RSPH9
967:DNAI2
955:DNAH5
951:DNAI1
928:PKHD1
908:ARPKD
904:ADPKD
864:GLIS2
856:IQCB1
852:NPHP4
848:NPHP3
840:NPHP1
752:RPE65
724:BRCC3
700:NPHP1
638:BBS12
630:BBS10
556:ALMS1
505:"The
486:ARPKD
482:ADPKD
325:is a
107:cilia
91:cilia
4919:MeSH
4882:PMID
4837:2008
4786:PMID
4778:ISSN
4731:PMID
4723:ISSN
4676:PMID
4668:ISSN
4629:PMID
4621:ISSN
4582:PMID
4564:ISSN
4525:PMID
4476:PMID
4427:PMID
4375:PMID
4353:151C
4330:2008
4289:PMID
4281:ISSN
4267:151C
4059:2024
4030:PMID
4022:ISSN
3985:2024
3956:PMID
3938:ISSN
3892:PMID
3874:ISSN
3835:PMID
3827:ISSN
3788:PMID
3727:PMID
3680:2009
3639:PMID
3588:PMID
3540:2009
3527:ISBN
3478:PMID
3414:PMID
3364:ISBN
3339:ISBN
3308:PMID
3259:PMID
3216:PMID
3167:PMID
3072:cell
2833:TSC2
2827:TSC1
2665:ROR2
2595:AKT1
2558:TCF4
2516:FLNA
2494:FLNA
2451:GJA1
2377:ZEB2
2356:NDE1
2084:ALX1
2078:ALX4
2072:ALX3
1817:SACS
1780:ACTB
1694:CD96
1651:SUFU
1566:DLL4
1554:EOGT
1548:RBPJ
1482:OMIM
1422:PAX2
1401:GLI3
1380:MID1
1359:PSPH
1305:UBR1
1263:GLI3
1140:GLI3
1134:KIF7
1110:OMIM
1027:Eye
924:PKD2
920:PKD1
906:and
890:OFD1
844:INVS
794:MKS1
773:MKKS
696:AHI1
665:EVC2
626:BBS9
622:TTC8
618:BBS7
614:MKKS
610:BBS5
606:BBS4
602:ARL6
598:BBS2
594:BBS1
532:OMIM
484:and
448:and
351:cone
349:and
133:and
4872:PMC
4864:doi
4770:doi
4766:133
4715:doi
4660:doi
4613:doi
4572:PMC
4556:doi
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4507:doi
4466:PMC
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3570:doi
3566:129
3470:doi
3406:doi
3402:289
3331:doi
3298:PMC
3290:doi
3286:118
3251:doi
3206:PMC
3198:doi
3157:doi
2966:DCX
2030:ICK
1859:CHM
1838:EBP
971:KTU
659:EVC
389:or
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