OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis.
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The dynamic cilium in human diseasesOfd1, a human disease gene, regulates the length and distal structure of centriolesThe Talpid3 gene (KIAA0586) encodes a centrosomal protein that is essential for primary cilia formationOFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilinUpdate on oral-facial-digital syndromes (OFDS)Cilia/Ift protein and motor -related bone diseases and mouse modelsOFD1 and flotillins are integral components of a ciliary signaling protein complex organized by polycystins in renal epithelia and odontoblastsFunctional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complexCentriolar satellites: key mediators of centrosome functionsCilia and developmental signalingA mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signalingGlomerulocystic kidney disease in mice with a targeted inactivation of Wwtr1Acceleration of polycystic kidney disease progression in cpk mice carrying a deletion in the homeodomain protein Cux1Regional 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.Dilatory is a Drosophila protein related to AZI1 (CEP131) that is located at the ciliary base and required for cilium formationIdiopathic pulmonary fibrosis: aberrant recapitulation of developmental programs?Identification of novel antigens with induced immune response in monoclonal gammopathy of undetermined significance.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 pathwayGenetic interaction between Bardet-Biedl syndrome genes and implications for limb patterningOfd1 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.Galectin-3 associates with the primary cilium and modulates cyst growth in congenital polycystic kidney diseaseClinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome.Nephronophthisis.Cilia involvement in patterning and maintenance of the skeletonCiliary diffusion barrier: the gatekeeper for the primary cilium compartment.Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder.Using the avian mutant talpid2 as a disease model for understanding the oral-facial phenotypes of oral-facial-digital syndromeDeep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)How have the past 5 years of research changed clinical practice in paediatric nephrology?Diagnosis, pathogenesis, and treatment prospects in cystic kidney disease.Impaired IGF1-GH axis and new therapeutic options in Alström Syndrome patients: a case series.The primary cilium at the crossroads of mammalian hedgehog signalingCilia, Alström syndrome--molecular mechanisms and therapeutic perspectivesThe primary cilium as a Hedgehog signal transduction machine.Cilia in cell signaling and human disorders.Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
P2860
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P2860
OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis.
description
2004 nî lūn-bûn
@nan
2004 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
OFD1 is a centrosomal/basal bo ...... sition in human nephrogenesis.
@ast
OFD1 is a centrosomal/basal bo ...... sition in human nephrogenesis.
@en
OFD1 is a centrosomal/basal bo ...... sition in human nephrogenesis.
@nl
type
label
OFD1 is a centrosomal/basal bo ...... sition in human nephrogenesis.
@ast
OFD1 is a centrosomal/basal bo ...... sition in human nephrogenesis.
@en
OFD1 is a centrosomal/basal bo ...... sition in human nephrogenesis.
@nl
prefLabel
OFD1 is a centrosomal/basal bo ...... sition in human nephrogenesis.
@ast
OFD1 is a centrosomal/basal bo ...... sition in human nephrogenesis.
@en
OFD1 is a centrosomal/basal bo ...... sition in human nephrogenesis.
@nl
P2093
P1476
OFD1 is a centrosomal/basal bo ...... sition in human nephrogenesis.
@en
P2093
Adrian S Woolf
Andrew M Fry
Leila Romio
Paul J D Winyard
Sally A Feather
Sue Malcolm
P304
P356
10.1097/01.ASN.0000140220.46477.5C
P577
2004-10-01T00:00:00Z