Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome
about
The dynamic cilium in human diseasesJoubert Syndrome and related disordersMutations in the cilia gene ARL13B lead to the classical form of Joubert syndromeFAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathiesA meckelin-filamin A interaction mediates ciliogenesisTMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zoneDisruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophyDisruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and miceSpata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retinaA common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathiesFunctional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteinsCEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary ciliumLoss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasiaOFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilinThe role of RPGR in cilia formation and actin stabilityNephronophthisisMutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)Novel transglutaminase-like peptidase and C2 domains elucidate the structure, biogenesis and evolution of the ciliary compartmentMechanisms of nephronophthisis and related ciliopathiesCC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290The hydrolethalus syndrome protein HYLS-1 links core centriole structure to cilia formationCerebellar development and diseaseThe cilia-regulated proteasome and its role in the development of ciliopathies and cancerThe role of primary cilia in the development and disease of the retinaMolecular complexes that direct rhodopsin transport to primary ciliaPrimary cilia in the developing and mature brainScrutinizing ciliopathies by unraveling ciliary interaction networksKIAA0556 is a novel ciliary basal body component mutated in Joubert syndromeThe nonmotile ciliopathies.The Role of RPGR and Its Interacting Proteins in CiliopathiesMultiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP).TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndromeGenetic and physical interaction between the NPHP5 and NPHP6 gene productsCiliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19Congenital hydrocephalus in genetically engineered miceDishevelled stabilization by the ciliopathy protein Rpgrip1l is essential for planar cell polarityNPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development.Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle traffickingExome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvementMutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy
P2860
Q21202039-2B9FAA14-C556-43F5-9F65-A53CC9E289FCQ21202880-DE6B814B-15B7-4251-9FCD-5A01CEA3B187Q21710711-EF0BE107-CA20-4C25-A21A-DC1A8D6A5C01Q24297877-014D66D1-54A1-4D1F-BAF9-CA856F9260C8Q24298551-836A199A-A07B-4FDE-9390-C89830A7F7ADQ24299114-F3B4E15B-649C-4283-891B-496E07837A93Q24300726-FD590A16-7E89-40D5-946C-819300534C9EQ24304229-15CDE67B-FC7B-4F57-8E2B-297FFBCBBCB1Q24306695-E2E1E222-DAAB-40F7-AC28-E08875C08940Q24309499-B573AB0F-29B7-4FAF-8A3B-45A7271E6A92Q24310078-8F089C60-C4A3-4895-8FFB-BD94EDF5B71CQ24310530-B2B04940-7563-4895-8896-45B2420CF5DEQ24315070-E8DF86A2-9F19-4D50-B582-8F7C26F64188Q24320320-628D415D-2C9E-442C-A9A6-29F9D0240755Q24338338-70515ECF-68D6-47C5-B8A5-244ADB4AFA00Q24601139-55A17BC7-34CC-4C7E-817B-7326F726E3E7Q24609805-79880970-A33B-4B90-854B-2C8906F9EE2BQ24614447-DE9ED63B-5056-4AB2-9D9C-4315C7EB497CQ24634201-E0D75B6A-541A-4EAB-B448-2DED7CBD2D2AQ24644138-9118151F-00D2-4E3D-ADB2-B8E08F31ED2CQ24647436-DE66B65B-6011-4D1E-B1E9-64BB0AD6363AQ24657241-3D0C6B5F-743F-4E96-BDB0-1CE67F768739Q26746930-7F74E1CC-733E-44AD-80B9-2F0FBE558508Q26822720-76E20192-22E8-4140-9B2C-03522DFAD64AQ26860718-61E6F976-3E9C-4473-BDEC-24776864A321Q27002324-6CB28497-3AC1-420B-BA11-27E2B9DD6930Q27025614-BC37E15D-FB2A-4768-97BA-F517666F9D26Q27336381-921D5C45-4582-4636-B9BE-50871BF06863Q27967648-D725CCE1-DEF4-4641-B338-A3A5643A2863Q28081883-49B4E569-88EC-4522-B3B5-1B08F5C01001Q28114957-6E67093D-A0C8-41BB-AFD9-8099A619736EQ28115647-3A3D036A-8FA0-4FC9-BD92-0420A7DC7EEEQ28118065-3B35EFF2-76E2-43B3-8980-C51C63486553Q28251106-3EC1D205-479C-42DC-8E35-15C888244510Q28506486-D6D0CAE7-67E0-4EBE-BCB4-5AF4719132D9Q28511174-DCA1B195-2E87-4F83-B493-982E4D3C10BCQ28586324-EE3FFE85-C685-404E-A1BE-37F70D381C62Q28588535-D3E4A1E0-4CF1-4076-AA14-B32A70696B7AQ28709034-816F7177-A713-4628-A505-AE184B6813EDQ29144258-EA103D05-C3CF-4791-AF81-5173E3043AFC
P2860
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome
description
2007 nî lūn-bûn
@nan
2007 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Mutations in the gene encoding ...... ractor, cause Joubert syndrome
@ast
Mutations in the gene encoding ...... ractor, cause Joubert syndrome
@en
Mutations in the gene encoding ...... ractor, cause Joubert syndrome
@en-gb
Mutations in the gene encoding ...... ractor, cause Joubert syndrome
@nl
type
label
Mutations in the gene encoding ...... ractor, cause Joubert syndrome
@ast
Mutations in the gene encoding ...... ractor, cause Joubert syndrome
@en
Mutations in the gene encoding ...... ractor, cause Joubert syndrome
@en-gb
Mutations in the gene encoding ...... ractor, cause Joubert syndrome
@nl
prefLabel
Mutations in the gene encoding ...... ractor, cause Joubert syndrome
@ast
Mutations in the gene encoding ...... ractor, cause Joubert syndrome
@en
Mutations in the gene encoding ...... ractor, cause Joubert syndrome
@en-gb
Mutations in the gene encoding ...... ractor, cause Joubert syndrome
@nl
P2093
P2860
P50
P3181
P356
P1433
P1476
Mutations in the gene encoding ...... ractor, cause Joubert syndrome
@en
P2093
Aileen Kartono
Dan Doherty
Federico M Farin
Frans P M Cremers
Hamit Ozyurek
Han G Brunner
Heleen H Arts
Hester Y Kroes
Ian A Glass
Krysta Voesenek
P2860
P2888
P3181
P356
10.1038/NG2069
P407
P577
2007-07-01T00:00:00Z
P5875
P6179
1007459381