The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity.

The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity.

Item
http://www.wikidata.org/entity/Q30540974
Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomaliesA polycystin-centric view of cyst formation and disease: the polycystins revisitedThe role of primary cilia in the development and disease of the retinaCilia/Ift protein and motor -related bone diseases and mouse modelsCEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathiesAn ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations.Bioinformatic analysis of ciliary transition zone proteins reveals insights into the evolution of ciliopathy networks.Open Sesame: How Transition Fibers and the Transition Zone Control Ciliary Composition.Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system developmentDevelopmental signaling: does it bridge the gap between cilia dysfunction and renal cystogenesis?Wnt Signaling Cascades and the Roles of Syndecan Proteoglycans.Primary Cilia in Cystic Kidney Disease.Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome.The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway.DDA: A Novel Network-Based Scoring Method to Identify Disease-Disease Associations.[The multiple links between cilia and planar cell polarity].Missense variants in in a patient with Joubert syndrome
P2860

The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity.

Item
http://www.wikidata.org/entity/Q30540974
description
2013 nî lūn-bûn
@nan
2013 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
The Meckel syndrome protein me ...... ed for tissue planar polarity.
@ast
The Meckel syndrome protein me ...... ed for tissue planar polarity.
@en
type
label
The Meckel syndrome protein me ...... ed for tissue planar polarity.
@ast
The Meckel syndrome protein me ...... ed for tissue planar polarity.
@en
prefLabel
The Meckel syndrome protein me ...... ed for tissue planar polarity.
@ast
The Meckel syndrome protein me ...... ed for tissue planar polarity.
@en
P1433
P1476
P2093
P2860
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P478
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P1433
P1476
The Meckel syndrome protein me ...... red for tissue planar polarity
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P932