CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders
about
Joubert Syndrome and related disordersGenes associated with retinitis pigmentosa and allied diseases are frequently mutated in the general populationMutations in the cilia gene ARL13B lead to the classical form of Joubert syndromeCombining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesisThe kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypesMutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)Disruption of CEP290 microtubule/membrane-binding domains causes retinal degenerationCerebellar development and diseaseCEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathiesInvestigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndromeModelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal developmentCEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content.Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathyClinical and molecular features of Joubert syndrome and related disorders.Joubert syndrome: insights into brain development, cilium biology, and complex disease.Nephronophthisis: disease mechanisms of a ciliopathy.Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisisThe ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders.Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations.Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.Ciliopathies: an expanding disease spectrum.Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mappingA Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 PathologyThe centriolar satellite proteins Cep72 and Cep290 interact and are required for recruitment of BBS proteins to the cilium.Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: insights into X-linked Retinitis Pigmentosa and associated ciliopathies.Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins.Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis.Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disordersTargeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.Joubert syndrome: congenital cerebellar ataxia with the molar toothRPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneityHuman retinopathy-associated ciliary protein retinitis pigmentosa GTPase regulator mediates cilia-dependent vertebrate development.A developmental and genetic classification for midbrain-hindbrain malformations.Rare disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility.Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.Unravelling the genetic basis of simplex Retinitis Pigmentosa cases.Are there conserved roles for the extracellular matrix, cilia, and junctional complexes in left-right patterning?Genetic basis of human left-right asymmetry disorders.
P2860
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P2860
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders
description
2007 nî lūn-bûn
@nan
2007 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
CEP290 mutations are frequentl ...... ert syndrome-related disorders
@ast
CEP290 mutations are frequentl ...... ert syndrome-related disorders
@en
CEP290 mutations are frequentl ...... ert syndrome-related disorders
@nl
type
label
CEP290 mutations are frequentl ...... ert syndrome-related disorders
@ast
CEP290 mutations are frequentl ...... ert syndrome-related disorders
@en
CEP290 mutations are frequentl ...... ert syndrome-related disorders
@nl
prefLabel
CEP290 mutations are frequentl ...... ert syndrome-related disorders
@ast
CEP290 mutations are frequentl ...... ert syndrome-related disorders
@en
CEP290 mutations are frequentl ...... ert syndrome-related disorders
@nl
P2093
P2860
P50
P3181
P356
P1476
CEP290 mutations are frequentl ...... ert syndrome-related disorders
@en
P2093
Adnan Yuksel
Andrea Kiss
Bernard Stuart
Carmelo D Salpietro
David H Viskochil
Dominika Zablocka
Elif Y Fenerci
Elliott H Sherr
Elysa Marco
Giuseppe Barrano
P2860
P304
P3181
P356
10.1086/519026
P407
P50
P577
2007-07-01T00:00:00Z