The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation
about
The mother centriole plays an instructive role in defining cell geometryIdentification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzleEvc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleusA 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 zoneMutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarizationBardet-Biedl syndrome-associated small GTPase ARL6 (BBS3) functions at or near the ciliary gate and modulates Wnt signalingFunctional 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 ciliumMeckel-Gruber syndrome protein MKS3 is required for endoplasmic reticulum-associated degradation of surfactant protein CCiliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3Pitchfork regulates primary cilia disassembly and left-right asymmetryMutations 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 compartmentDisruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndromeIdentification of novel families and classification of the C2 domain superfamily elucidate the origin and evolution of membrane targeting activities in eukaryotesMutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromesCC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlationJoubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutationThe base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalizationCEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathiesAn essential role for DYF-11/MIP-T3 in assembling functional intraflagellar transport complexesKIAA0556 is a novel ciliary basal body component mutated in Joubert syndromeRenal cystic disease proteins play critical roles in the organization of the olfactory epitheliumMouse models of ciliopathies: the state of the art.The nonmotile ciliopathies.MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesisA transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.CP110 and its network of partners coordinately regulate cilia assembly.The Cilium: Cellular Antenna and Central Processing UnitPathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesisNephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo deliveryChimeric negative regulation of p14ARF and TBX1 by a t(9;22) translocation associated with melanoma, deafness, and DNA repair deficiencyCilia and developmental signalingModelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal developmentA mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signalingNesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeletonThe stumpy gene is required for mammalian ciliogenesisMeckelin 3 is necessary for photoreceptor outer segment development in rat Meckel syndrome
P2860
Q21092761-CB9FD4E2-2131-40AF-96B2-D7E995F5FB36Q21710712-4B9FD1E3-4823-476B-91E4-EC0AF67D46CFQ24294238-E16ADBD6-AA99-41C7-9895-EA5C02DA39D3Q24298551-118B128A-847D-42C2-8D97-0FB18DC32BD2Q24299114-6CBA8D2D-B0E8-4A73-9A48-6CB2CF9ECA71Q24301355-82BD4802-791A-4FDA-B98C-22CB8DF3670EQ24301800-3FD4A2C8-EEC9-49E6-B091-26B0968090A1Q24310078-566F3F72-0496-4520-9DC0-ADFC095BCF7CQ24310530-65221283-52B2-4939-874E-BEBAF2DBFC22Q24323014-47682E2D-04B0-4F6E-882C-62C42FEC3DCBQ24337720-888EB763-8B1A-4818-B93C-83AAE22C74B9Q24339279-149A891B-A73F-4FCF-8EFB-554685C96C9EQ24609805-BC98344D-19EC-4D68-9BD2-FA3ED5919F4CQ24614447-D7F2D86D-4BE0-46BB-9A6C-3DD157C6D081Q24622660-C403A17E-933A-40A2-A174-AFF29C0041CBQ24623162-A896DE54-12B7-4F3D-8EB5-8147EEE13C30Q24625476-B56B1039-B865-41E4-A1EA-8380908A231CQ24644138-EC5B1413-0DD5-4A42-87A5-C39AF2D0DF2CQ24650658-AADCBBDB-FDC9-4D41-B70D-6E25386F061BQ24651168-B02CCAEE-9F2E-4891-9D41-A1BBC26EFEA4Q26825968-086E760C-7563-430E-8B7C-9D264B5D6A2CQ27301023-B96E7975-9BA9-4933-9E3B-CA9B45A20DDEQ27313933-BF7111E3-0DDE-4338-B806-7A1E8740B169Q27336381-0E666874-5B14-4F98-967E-79F8622D2628Q27342510-E324F004-5383-497B-83DD-F6F7DAC6F629Q27692039-2112BD1E-CD28-4E6D-9820-D3DBB6678ACFQ27967648-02DB1C2F-CEAD-41A7-BD4E-5444F435EC9BQ28000044-ABE9867F-F92D-4F93-9367-7510B5349524Q28000057-DCC312ED-E230-4A44-BDFB-5E68EB16F2A1Q28000138-0EA7FD73-58B1-442B-957B-935C416EEFDBQ28075519-06988E71-4538-4D58-9E95-6FF99BD2722FQ28114986-F6199016-294D-412C-8616-9F6CD96FE5B4Q28116651-3B4B9B3F-007C-4B8D-8184-A00B3B2411CFQ28290365-C53609F0-65D9-44D6-B948-0CA329207E7BQ28302606-18BD5CB3-D711-49D9-8419-58D6EDAD4B61Q28506685-9ECF0B95-B8C8-4433-AADE-EB304D0CEC6FQ28507443-5565B224-F63F-4CB1-A30D-74C1E67158EFQ28511078-C09131B0-D906-4F96-8406-5790D1E064E7Q28512591-F8CB49C5-A8FD-4CAE-92DB-B338D6BBEF36Q28577857-4CCFBFCC-143E-4C44-B6AC-EECC6E2C31CE
P2860
The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation
description
2007 nî lūn-bûn
@nan
2007 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի հունվարին 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
The Meckel-Gruber Syndrome pro ...... d for primary cilium formation
@ast
The Meckel-Gruber Syndrome pro ...... d for primary cilium formation
@en
The Meckel-Gruber Syndrome pro ...... d for primary cilium formation
@en-gb
The Meckel-Gruber Syndrome pro ...... d for primary cilium formation
@nl
type
label
The Meckel-Gruber Syndrome pro ...... d for primary cilium formation
@ast
The Meckel-Gruber Syndrome pro ...... d for primary cilium formation
@en
The Meckel-Gruber Syndrome pro ...... d for primary cilium formation
@en-gb
The Meckel-Gruber Syndrome pro ...... d for primary cilium formation
@nl
prefLabel
The Meckel-Gruber Syndrome pro ...... d for primary cilium formation
@ast
The Meckel-Gruber Syndrome pro ...... d for primary cilium formation
@en
The Meckel-Gruber Syndrome pro ...... d for primary cilium formation
@en-gb
The Meckel-Gruber Syndrome pro ...... d for primary cilium formation
@nl
P2093
P2860
P50
P921
P3181
P356
P1476
The Meckel-Gruber Syndrome pro ...... d for primary cilium formation
@en
P2093
Andrew R Cullinane
Colin A Johnson
Deirdre A Kelly
Dianne Gerrelli
Helen R Dawe
Keith Gull
Nisha Sriram
Sarah Blair-Reid
Simon C Afford
Ursula M Smith
P2860
P304
P3181
P356
10.1093/HMG/DDL459
P407
P577
2007-01-15T00:00:00Z