Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy
about
Mutation of POC1B in a severe syndromic retinal ciliopathyNovel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomaliesDYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defectsAdvances in Skeletal Dysplasia GeneticsATMIN is a transcriptional regulator of both lung morphogenesis and ciliogenesis.Subunit composition of the human cytoplasmic dynein-2 complexTctex1d2 associates with short-rib polydactyly syndrome proteins and is required for ciliogenesisMutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndromeTCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.The intraflagellar transport dynein complex of trypanosomes is made of a heterodimer of dynein heavy chains and of light and intermediate chains of distinct functions.The role of the dynein light intermediate chain in retrograde IFT and flagellar function in Chlamydomonas.Mutations of CEP83 cause infantile nephronophthisis and intellectual disabilityA founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.Dynein and intraflagellar transport.Cilia dysfunction in lung disease.Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain.Skeleton Genetics: a comprehensive database for genes and mutations related to genetic skeletal disorders.Emerging roles of sumoylation in the regulation of actin, microtubules, intermediate filaments, and septinsMutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.The role of hedgehog signalling in skeletal health and disease.Unmasking the ciliopathies: craniofacial defects and the primary cilium.Microtubule Motors Drive Hedgehog Signaling in Primary Cilia.Ciliopathies.The primary cilium influences interleukin-1β-induced NFκB signalling by regulating IKK activity.Photoreceptor Cilia and Retinal Ciliopathies.Genes and molecular pathways underpinning ciliopathies.An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome.The Golgi matrix protein giantin is required for normal cilia function in zebrafish.Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies.Primary cilia modulate TLR4-mediated inflammatory responses in hippocampal neuronsDDA: A Novel Network-Based Scoring Method to Identify Disease-Disease Associations.TCTEX1D2, a potential link to skeletal ciliopathies.Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.Loss of dynein-2 intermediate chain Wdr34 results in defects in retrograde ciliary protein trafficking and Hedgehog signaling in the mouse.Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia.The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis.Targeted deletion of the AAA-ATPase Ruvbl1 in mice disrupts ciliary integrity and causes renal disease and hydrocephalus.
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P2860
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy
description
2013 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2013
@ast
im November 2013 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
wetenschappelijk artikel (gepubliceerd op 2013/11/07)
@nl
наукова стаття, опублікована в листопаді 2013
@uk
مقالة علمية (نشرت في 7-11-2013)
@ar
name
Mutations in the gene encoding ...... sphyxiating thoracic dystrophy
@ast
Mutations in the gene encoding ...... sphyxiating thoracic dystrophy
@en
type
label
Mutations in the gene encoding ...... sphyxiating thoracic dystrophy
@ast
Mutations in the gene encoding ...... sphyxiating thoracic dystrophy
@en
prefLabel
Mutations in the gene encoding ...... sphyxiating thoracic dystrophy
@ast
Mutations in the gene encoding ...... sphyxiating thoracic dystrophy
@en
P2093
P2860
P50
P3181
P1476
Mutations in the gene encoding ...... sphyxiating thoracic dystrophy
@en
P2093
Aideen M McInerney-Leo
Alma Kuechler
Andreas Zankl
Anthony T Moore
Belinda Dopita
Berthold Streubel
Beyhan Tüysüz
Brooke Gardiner
Detlef Bockenhauer
Hannah M Mitchison
P2860
P304
P3181
P356
10.1016/J.AJHG.2013.10.003
P407
P50
P577
2013-11-07T00:00:00Z