OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin
about
X-linked disorders with cerebellar dysgenesisJoubert Syndrome and related disordersFAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathiesTMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zoneCandidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathyDisruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and miceAutophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellitesJoubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutationUpdate on oral-facial-digital syndromes (OFDS)The role of primary cilia in the development and disease of the retinaInositol polyphosphate 5-phosphatases; new players in the regulation of cilia and ciliopathiesInvestigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndromeCentriolar satellites: key mediators of centrosome functionsModelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal developmentOFD1, 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 familyNovel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.Genomic approaches for the discovery of genes mutated in inherited retinal degeneration.Small organelle, big responsibility: the role of centrosomes in development and disease.CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging studyBuilding the centriole.Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.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.Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking.Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathiesExpanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutationsMutations in human IFT140 cause non-syndromic retinal degenerationDeep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.The ciliopathies: a transitional model into systems biology of human genetic disease.Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma.Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial casesPathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.Joubert syndrome: congenital cerebellar ataxia with the molar tooth
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P2860
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin
description
2009 nî lūn-bûn
@nan
2009 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin
@ast
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin
@en
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin
@en-gb
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin
@nl
type
label
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin
@ast
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin
@en
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin
@en-gb
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin
@nl
prefLabel
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin
@ast
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin
@en
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin
@en-gb
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin
@nl
P2093
P2860
P50
P3181
P1476
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin
@en
P2093
Arjan P M de Brouwer
Bushra Afroze
Dan Doherty
Frans P M Cremers
Hester Y Kroes
Karlien L M Coene
Lock H Ngu
Malika Azhimi
Mireille Boink
Nicholas T Gorden
P2860
P304
P3181
P356
10.1016/J.AJHG.2009.09.002
P407
P50
P577
2009-10-01T00:00:00Z