Identification of the gene for oral-facial-digital type I syndrome
about
The dynamic cilium in human diseasesCandidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathyThe oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.Ofd1, a human disease gene, regulates the length and distal structure of centriolesOFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilinAutophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellitesClinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative studyUpdate on oral-facial-digital syndromes (OFDS)The role of primary cilia in the development and disease of the retinaThe base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalizationCilia/Ift protein and motor -related bone diseases and mouse modelsMouse models of ciliopathies: the state of the art.The nonmotile ciliopathies.Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complexOFD1, as a Ciliary Protein, Exhibits Neuroprotective Function in Photoreceptor Degeneration ModelsFuz regulates craniofacial development through tissue specific responses to signaling factorsRegional selection acting on the OFD1 gene familyThe primary cilium: a signalling centre during vertebrate developmentConvergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene.Cep70 and Cep131 contribute to ciliogenesis in zebrafish embryos.The centrosomal OFD1 protein interacts with the translation machinery and regulates the synthesis of specific targets.Polycystic kidney disease.Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging studyMolecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.Building the centriole.X-linked genes and risk of orofacial clefts: evidence from two population-based studies in Scandinavia.Normal and abnormal development of the urogenital tract.Cby1 promotes Ahi1 recruitment to a ring-shaped domain at the centriole-cilium interface and facilitates proper cilium formation and function.Ofd1 controls dorso-ventral patterning and axoneme elongation during embryonic brain development.Centriolar satellites are assembly points for proteins implicated in human ciliopathies, including oral-facial-digital syndrome 1.Ciliopathies: an expanding disease spectrum.Variability of expression of oral-facial-digital syndrome type I in 15 Saudi girls: Why is there a high rate of median cleft lip in the phenotype?Cilia involvement in patterning and maintenance of the skeletonMutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.Oral and craniofacial clinical signs associated to genetic conditions in human identification part I: a review.The ciliary transition zone: from morphology and molecules to medicineUsing the avian mutant talpid2 as a disease model for understanding the oral-facial phenotypes of oral-facial-digital syndromeExpanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutationsDeep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)
P2860
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P2860
Identification of the gene for oral-facial-digital type I syndrome
description
2001 nî lūn-bûn
@nan
2001 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի մարտին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Identification of the gene for oral-facial-digital type I syndrome
@ast
Identification of the gene for oral-facial-digital type I syndrome
@en
Identification of the gene for oral-facial-digital type I syndrome
@en-gb
Identification of the gene for oral-facial-digital type I syndrome
@nl
type
label
Identification of the gene for oral-facial-digital type I syndrome
@ast
Identification of the gene for oral-facial-digital type I syndrome
@en
Identification of the gene for oral-facial-digital type I syndrome
@en-gb
Identification of the gene for oral-facial-digital type I syndrome
@nl
prefLabel
Identification of the gene for oral-facial-digital type I syndrome
@ast
Identification of the gene for oral-facial-digital type I syndrome
@en
Identification of the gene for oral-facial-digital type I syndrome
@en-gb
Identification of the gene for oral-facial-digital type I syndrome
@nl
P2093
P2860
P3181
P356
P1476
Identification of the gene for oral-facial-digital type I syndrome
@en
P2093
A Ballabio
A Selicorni
M I Ferrante
P2860
P304
P3181
P356
10.1086/318802
P407
P577
2001-03-01T00:00:00Z