CEP290, a gene with many faces: mutation overview and presentation of CEP290base.
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The Lowe syndrome protein OCRL1 is involved in primary cilia assemblyCombining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesisThe kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypesMainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutationsBBS mutations modify phenotypic expression of CEP290-related ciliopathiesThe CP110-interacting proteins Talpid3 and Cep290 play overlapping and distinct roles in cilia assemblyCasein kinase 1δ functions at the centrosome and Golgi to promote ciliogenesisDisruption of CEP290 microtubule/membrane-binding domains causes retinal degenerationBardet-Biedl SyndromeCEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathiesDNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary DyskinesiaCP110 and its network of partners coordinately regulate cilia assembly.The Role of RPGR and Its Interacting Proteins in CiliopathiesBiology and therapy of inherited retinal degenerative disease: insights from mouse modelsDisruption of a ciliary B9 protein complex causes Meckel syndromePathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesisCentriolar satellites: key mediators of centrosome functionsCiliopathy-associated gene Cc2d2a promotes assembly of subdistal appendages on the mother centriole during cilia biogenesisThe N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness.NPHP4 variants are associated with pleiotropic heart malformations.Understanding disease pleiotropy: From puzzle to solution.Small organelle, big responsibility: the role of centrosomes in development and disease.New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.Ciliopathies: an expanding disease spectrum.FOP is a centriolar satellite protein involved in ciliogenesis.Functional analysis of BBS3 A89V that results in non-syndromic retinal degenerationUnexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis.Clinical characteristics and current therapies for inherited retinal degenerationsA network-based approach to dissect the cilia/centrosome complex interactome.Modeling human disease in humans: the ciliopathies.Ciliopathies: the central role of cilia in a spectrum of pediatric disorders.Using Stem Cells to Model Diseases of the Outer RetinaThe ciliary transition zone: from morphology and molecules to medicineA Screen for Modifiers of Cilia Phenotypes Reveals Novel MKS Alleles and Uncovers a Specific Genetic Interaction between osm-3 and nphp-4.Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation.DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndromeThe centriolar satellite proteins Cep72 and Cep290 interact and are required for recruitment of BBS proteins to the cilium.Joubert Syndrome in French Canadians and Identification of Mutations in CEP104
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CEP290, a gene with many faces: mutation overview and presentation of CEP290base.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on October 2010
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
CEP290, a gene with many faces: mutation overview and presentation of CEP290base.
@en
CEP290, a gene with many faces: mutation overview and presentation of CEP290base.
@nl
type
label
CEP290, a gene with many faces: mutation overview and presentation of CEP290base.
@en
CEP290, a gene with many faces: mutation overview and presentation of CEP290base.
@nl
prefLabel
CEP290, a gene with many faces: mutation overview and presentation of CEP290base.
@en
CEP290, a gene with many faces: mutation overview and presentation of CEP290base.
@nl
P356
P1433
P1476
CEP290, a gene with many faces: mutation overview and presentation of CEP290base
@en
P2093
Bart P Leroy
Steve Lefever
P304
P356
10.1002/HUMU.21337
P577
2010-10-01T00:00:00Z