Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum.
about
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutationsCilia/Ift protein and motor -related bone diseases and mouse modelsIntraflagellar transport complex structure and cargo interactions.Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19Mutations in Traf3ip1 reveal defects in ciliogenesis, embryonic development, and altered cell size regulationAn Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of ciliaThe intraflagellar transport protein IFT80 is required for cilia formation and osteogenesisIFT80 is essential for chondrocyte differentiation by regulating Hedgehog and Wnt signaling pathwaysExome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvementMutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndromeShort-rib polydactyly and Jeune syndromes are caused by mutations in WDR60IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndromePartial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.Function and regulation of primary cilia and intraflagellar transport proteins in the skeletonDeletion of IFT80 Impairs Epiphyseal and Articular Cartilage Formation Due to Disruption of Chondrocyte Differentiation.Ciliary IFT80 balances canonical versus non-canonical hedgehog signalling for osteoblast differentiationCurrent insights into renal ciliopathies: what can genetics teach us?Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome.WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia.Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.Ciliary disorder of the skeleton.Unmasking the ciliopathies: craniofacial defects and the primary cilium.An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome.Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies.Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.Cushioning the cartilage: a canonical Wnt restricting matter.Is Roifman syndrome an X-linked ciliopathy with humoral immunodeficiency? Evidence from 2 new cases.Crystal structure of intraflagellar transport protein 80 reveals a homo-dimer required for ciliogenesis.Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122.Clinical epidemiology of skeletal dysplasias in South America.
P2860
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P2860
Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum.
description
2009 nî lūn-bûn
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2009 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2009年の論文
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2009年学术文章
@wuu
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
name
Mutation in IFT80 in a fetus w ...... ma-Naumoff dysplasia spectrum.
@ast
Mutation in IFT80 in a fetus w ...... ma-Naumoff dysplasia spectrum.
@en
Mutation in IFT80 in a fetus w ...... ma-Naumoff dysplasia spectrum.
@nl
type
label
Mutation in IFT80 in a fetus w ...... ma-Naumoff dysplasia spectrum.
@ast
Mutation in IFT80 in a fetus w ...... ma-Naumoff dysplasia spectrum.
@en
Mutation in IFT80 in a fetus w ...... ma-Naumoff dysplasia spectrum.
@nl
prefLabel
Mutation in IFT80 in a fetus w ...... ma-Naumoff dysplasia spectrum.
@ast
Mutation in IFT80 in a fetus w ...... ma-Naumoff dysplasia spectrum.
@en
Mutation in IFT80 in a fetus w ...... ma-Naumoff dysplasia spectrum.
@nl
P2093
P50
P356
P1476
Mutation in IFT80 in a fetus w ...... ma-Naumoff dysplasia spectrum.
@en
P2093
Anne-Lise Delezoide
Denise P Cavalcanti
Felicity Collins
Geneviève Baujat
Jelena Martinovic
Marcos Fernando S Mello
Michel Vekemans
Nathalie Dagoneau
P356
10.1136/JMG.2009.069468
P407
P577
2009-07-30T00:00:00Z