OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells.
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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 lebercilinClinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative studyCilia/Ift protein and motor -related bone diseases and mouse modelsConcise Review: Understanding the Renal Progenitor Cell Niche In Vivo to Recapitulate Nephrogenesis In VitroFunctional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complexRegional selection acting on the OFD1 gene familyConvergent 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.Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathwayCNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging studyGlomerulocystic kidney diseaseCentriolar satellites are assembly points for proteins implicated in human ciliopathies, including oral-facial-digital syndrome 1.Autosomal dominant polycystic kidney disease (ADPKD, MIM 173900, PKD1 and PKD2 genes, protein products known as polycystin-1 and polycystin-2).Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma.A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report.Regulation of centriolar satellite integrity and its physiologyOral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network.A novel mutation in the OFD1 (Cxorf5) gene may contribute to oral phenotype in patients with oral-facial-digital syndrome type 1.Microarray interrogation of human metanephric mesenchymal cells highlights potentially important molecules in vivo.Consequences of Centrosome Dysfunction During Brain Development.Primary cilia of odontoblasts: possible role in molar morphogenesis.Human DNA helicase, RuvBL1 and its Chlamydomonas homologue, CrRuvBL1 plays an important role in ciliogenesis.In-Depth Proteomic Analysis of the Porcine Retina by Use of a four Step Differential Extraction Bottom up LC MS Platform.Arabidopsis TONNEAU1 proteins are essential for preprophase band formation and interact with centrin.Oral-facial-digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum.Lithium induces mesenchymal-epithelial differentiation during human kidney development by activation of the Wnt signalling system.Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification.
P2860
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P2860
OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells.
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2003 nî lūn-bûn
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2003年の論文
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2003年論文
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OFD1, the gene mutated in oral ...... yonic renal mesenchymal cells.
@ast
OFD1, the gene mutated in oral ...... yonic renal mesenchymal cells.
@en
OFD1, the gene mutated in oral ...... yonic renal mesenchymal cells.
@nl
type
label
OFD1, the gene mutated in oral ...... yonic renal mesenchymal cells.
@ast
OFD1, the gene mutated in oral ...... yonic renal mesenchymal cells.
@en
OFD1, the gene mutated in oral ...... yonic renal mesenchymal cells.
@nl
prefLabel
OFD1, the gene mutated in oral ...... yonic renal mesenchymal cells.
@ast
OFD1, the gene mutated in oral ...... yonic renal mesenchymal cells.
@en
OFD1, the gene mutated in oral ...... yonic renal mesenchymal cells.
@nl
P2093
P1476
OFD1, the gene mutated in oral ...... yonic renal mesenchymal cells.
@en
P2093
Adrian S Woolf
Dian Donnai
Giovanna Giorgio
Karen Price
Leila Romio
Mary E Porteous
Paul J D Winyard
Sally A Feather
Sue Malcolm
Victoria Wright
P304
P356
10.1097/01.ASN.0000054497.48394.D2
P577
2003-03-01T00:00:00Z