Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex
about
TCTN3 mutations cause Mohr-Majewski syndromeThe oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.Direct role of Bardet-Biedl syndrome proteins in transcriptional regulationOFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilinAutophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellitesUpdate on oral-facial-digital syndromes (OFDS)OFD1 and flotillins are integral components of a ciliary signaling protein complex organized by polycystins in renal epithelia and odontoblastsThe nonmotile ciliopathies.OFD1, 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 familyConvergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene.Identification of novel antigens with induced immune response in monoclonal gammopathy of undetermined significance.The centrosomal OFD1 protein interacts with the translation machinery and regulates the synthesis of specific targets.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 studyRenal-retinal ciliopathy gene Sdccag8 regulates DNA damage response signalingOfd1 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.A network-based approach to dissect the cilia/centrosome complex interactome.Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)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.Abnormal glycosylation in Joubert syndrome type 10.Keeping the balance between proliferation and differentiation: the primary ciliumPrimary cilia and graded Sonic Hedgehog signaling.Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network.Nuclear roles for cilia-associated proteins.Oral-facial-digital syndrome type 1: oral features in 12 patients submitted to clinical and radiographic examination.The pathogenesis of the clinical features of oral-facial-digital syndrome type I.Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome).Human DNA helicase, RuvBL1 and its Chlamydomonas homologue, CrRuvBL1 plays an important role in ciliogenesis.[Non-ciliary functions of cilia proteins].Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification.Targeted deletion of the AAA-ATPase Ruvbl1 in mice disrupts ciliary integrity and causes renal disease and hydrocephalus.The Bardet–Biedl and orofacial digital type 1 ciliopathiesSearch for genomic imbalances in a cohort of 20 patients with oral-facial-digital syndromes negative for mutations and large rearrangements in theOFD1gene
P2860
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P2860
Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex
description
2007 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2007
@ast
im November 2007 veröffentlichter wissenschaftlicher Artikel
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scientific journal article
@en
vedecký článok (publikovaný 2007/11/01)
@sk
vědecký článek publikovaný v roce 2007
@cs
wetenschappelijk artikel (gepubliceerd op 2007/11/01)
@nl
наукова стаття, опублікована в листопаді 2007
@uk
مقالة علمية (نشرت في نوفمبر 2007)
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name
Functional characterization of ...... a chromatin remodeling complex
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Functional characterization of ...... a chromatin remodeling complex
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Functional characterization of ...... a chromatin remodeling complex
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type
label
Functional characterization of ...... a chromatin remodeling complex
@ast
Functional characterization of ...... a chromatin remodeling complex
@en
Functional characterization of ...... a chromatin remodeling complex
@nl
prefLabel
Functional characterization of ...... a chromatin remodeling complex
@ast
Functional characterization of ...... a chromatin remodeling complex
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Functional characterization of ...... a chromatin remodeling complex
@nl
P2093
P2860
P3181
P356
P1476
Functional characterization of ...... a chromatin remodeling complex
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P2093
Alessandro Zullo
Clelia Prattichizzo
Giovanna Giorgio
Mariaevelina Alfieri
Stefano Cairo
P2860
P304
P3181
P356
10.1091/MBC.E07-03-0198
P577
2007-11-01T00:00:00Z