Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome. - Wikidata - awgldk - TriplyDB

Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome.

Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome.

http://www.wikidata.org/entity/Q43232430

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The dynamic cilium in human diseases Joubert Syndrome and related disorders Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease Nephronophthisis Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration Investigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndrome The nonmotile ciliopathies.Nephronophthisis and related syndromes Genetic and physical interaction between the NPHP5 and NPHP6 gene products Ciliopathies CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content.Clinical 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.Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders.Nephronophthisis.Exome capture sequencing identifies a novel mutation in BBS4 Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction.Senior-Løken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis.Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins.Various facets of vertebrate cilia: motility, signaling, and role in adult neurogenesis.Joubert syndrome: congenital cerebellar ataxia with the molar tooth RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.Centrosomes and cilia in human disease.Non-syndromic retinal ciliopathies: translating gene discovery into therapy.Primary ciliary dyskinesia: recent advances in epidemiology, diagnosis, management and relationship with the expanding spectrum of ciliopathy.Photoreceptor Cilia and Retinal Ciliopathies.Antisense Oligonucleotide (AON)-based Therapy for Leber Congenital Amaurosis Caused by a Frequent Mutation in CEP290.Gene Therapy Using a miniCEP290 Fragment Delays Photoreceptor Degeneration in a Mouse Model of Leber Congenital Amaurosis.Unraveling the mysteries of pre-mRNA splicing in the retina via stem cell technology.Stem cells with a view: a look inside a retinal ciliopathy Structural basis of the Inv compartment and ciliary abnormalities in Inv/nphp2 mutant mice.Cilia localization is essential for in vivo functions of the Joubert syndrome protein Arl13b/Scorpion.Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes NGAL as an early biomarker of kidney disease in Joubert syndrome: three brothers compared.

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Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome.

http://www.wikidata.org/entity/Q43232430

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2007 nî lūn-bûn

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Mutation analysis of NPHP6/CEP ...... ome and Senior-Løken syndrome.

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Mutation analysis of NPHP6/CEP ...... ome and Senior-Løken syndrome.

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type

label

Mutation analysis of NPHP6/CEP ...... ome and Senior-Løken syndrome.

@en

Mutation analysis of NPHP6/CEP ...... ome and Senior-Løken syndrome.

@nl

prefLabel

Mutation analysis of NPHP6/CEP ...... ome and Senior-Løken syndrome.

@en

Mutation analysis of NPHP6/CEP ...... ome and Senior-Løken syndrome.

@nl

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JMG.2007.052027

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Journal of Medical Genetics

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Mutation analysis of NPHP6/CEP ...... ome and Senior-Løken syndrome.

@en

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Friedhelm Hildebrandt

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Ian Glass

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John F O'Toole

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Juliana Helou

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Melissa A Parisi

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Seema Hashmi

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Susan J Allen

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P2860

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution

The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin

Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3.

Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.

In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

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657-663

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10.1136/JMG.2007.052027

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10

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44

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Massimo Attanasio

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2007-07-06T00:00:00Z

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6219484

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