Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders - Wikidata - wikimedia - TriplyDB

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders

http://www.wikidata.org/entity/Q37185993

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PDE6δ-mediated sorting of INPP5E into the cilium is determined by cargo-carrier affinity Joubert syndrome: genotyping a Northern European patient cohort.Joubert syndrome: congenital cerebellar ataxia with the molar tooth Joubert syndrome in a neonate: case report with literature review INPP5E regulates phosphoinositide-dependent cilia transition zone function.The cilium: a cellular antenna with an influence on obesity risk.A Homozygous Missense Variant in INPP5E Associated with Joubert Syndrome and Related Disorders.Detecting TF-miRNA-gene network based modules for 5hmC and 5mC brain samples: a intra- and inter-species case-study between human and rhesus.Inpp5e suppresses polycystic kidney disease via inhibition of PI3K/Akt-dependent mTORC1 signaling.Defective ciliogenesis in INPP5E-related Joubert syndrome.Relationship Between INPP5E Gene Expression and Embryonic Neural Development in a Mouse Model of Neural Tube Defect.A splice site variant in INPP5E causes diffuse cystic renal dysplasia and hepatic fibrosis in dogs

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Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders

http://www.wikidata.org/entity/Q37185993

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 06 February 2013

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Phenotypic spectrum and preval ...... syndrome and related disorders

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Phenotypic spectrum and preval ...... yndrome and related disorders.

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Phenotypic spectrum and preval ...... syndrome and related disorders

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Phenotypic spectrum and preval ...... yndrome and related disorders.

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Phenotypic spectrum and preval ...... syndrome and related disorders

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Phenotypic spectrum and preval ...... yndrome and related disorders.

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European Journal of Human Genetics

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Phenotypic spectrum and preval ...... syndrome and related disorders

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Bruria Ben-Zeev

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Colin Johnson

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Eric Scott

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Francesco Brancati

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Gonul Ogur

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Hulya Kayserili

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International JSRD Study Group

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Jennifer Silhavy

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Malika Chaouch

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Maria Roberta Cilio

http://www.w3.org/2001/XMLSchema#string

P2860

Joubert Syndrome and related disorders

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

TCTN3 mutations cause Mohr-Majewski syndrome

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

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1074-1078

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scholarly article

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10.1038/EJHG.2012.305

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10

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21

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Tania Attié-Bitach

Enza Maria Valente

Eugen Boltshauser

Elizabeth Nickerson

Lorena Travaglini

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2013-02-06T00:00:00Z

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235405816

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23386033

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Joubert syndrome and related disorders

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3778343

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