The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.
about
The dynamic cilium in human diseasesIdentification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzleA 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 zoneThe ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndromeFunctional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteinsTMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophyTOPORS, implicated in retinal degeneration, is a cilia-centrosomal proteinMeckel-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 MKS3The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formationMutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndromeMutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromesCC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlationThe Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndromeThe base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalizationCilia in vertebrate development and diseaseCilia/Ift protein and motor -related bone diseases and mouse modelsInvestigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndromeRenal cystic disease proteins play critical roles in the organization of the olfactory epitheliumThe nonmotile ciliopathies.Disruption of a ciliary B9 protein complex causes Meckel syndromeModelling 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 signalingForward genetics uncovers Transmembrane protein 107 as a novel factor required for ciliogenesis and Sonic hedgehog signalingNesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeletonMeckelin 3 is necessary for photoreceptor outer segment development in rat Meckel syndromeThe planar cell polarity effector Fuz is essential for targeted membrane trafficking, ciliogenesis and mouse embryonic developmentKnockdown of Bardet-Biedl syndrome gene BBS9/PTHB1 leads to cilia defectsA genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formationAn ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations.The WD repeat-containing protein IFTA-1 is required for retrograde intraflagellar transport.The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity.Reduction of meckelin leads to general loss of cilia, ciliary microtubule misalignment and distorted cell surface organization.Clinical and molecular features of Joubert syndrome and related disorders.Joubert syndrome: insights into brain development, cilium biology, and complex disease.Nephronophthisis: disease mechanisms of a ciliopathy.Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity.Normal ciliogenesis requires synergy between the cystic kidney disease genes MKS-3 and NPHP-4.
P2860
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P2860
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.
description
2006 nî lūn-bûn
@nan
2006 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
The transmembrane protein meck ...... uber syndrome and the wpk rat.
@ast
The transmembrane protein meck ...... uber syndrome and the wpk rat.
@en
The transmembrane protein meckelin
@nl
type
label
The transmembrane protein meck ...... uber syndrome and the wpk rat.
@ast
The transmembrane protein meck ...... uber syndrome and the wpk rat.
@en
The transmembrane protein meckelin
@nl
prefLabel
The transmembrane protein meck ...... uber syndrome and the wpk rat.
@ast
The transmembrane protein meck ...... uber syndrome and the wpk rat.
@en
The transmembrane protein meckelin
@nl
P2093
P2860
P50
P356
P1433
P1476
The transmembrane protein meck ...... ruber syndrome and the wpk rat
@en
P2093
Brandy M McKee
C Geoffrey Woods
Carole McKeown
Caroline A Miller
Christopher J Ward
Christopher P Bennett
Colin A Johnson
Deirdre A Kelly
Erin Goranson
Esther N Maina
P2860
P2888
P304
P356
10.1038/NG1713
P407
P577
2006-01-15T00:00:00Z