A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome (Q50425483)

13 March 2018

title

A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome (English)

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13 March 2018

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Robert Koenekoop

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object named as

Robert K Koenekoop

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Dror Sharon

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object named as

Dror Sharon

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13 March 2018

author name string

Samer Khateb

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13 March 2018

Lina Zelinger

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Liliana Mizrahi-Meissonnier

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Uri Laxer

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Menachem Gross

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Eyal Banin

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language of work or name

English

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publication date

29 April 2014

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13 March 2018

Journal of Medical Genetics

published in

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volume

51

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issue

7

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page(s)

460-469

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102287

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Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome

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A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome

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A frameshift mutation in SANS results in atypical Usher syndrome

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Usher protein functions in hair cells and photoreceptors

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Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches

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Unlocking Mendelian disease using exome sequencing

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Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa

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Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.

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Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa

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Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa

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Correlation between the expression of CD4 and the level of CD4 mRNA in human B-cell lines

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Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa

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Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71

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C-Nap1, a novel centrosomal coiled-coil protein and candidate substrate of the cell cycle-regulated protein kinase Nek2

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A novel function of CEP135 as a platform protein of C-NAP1 for its centriolar localization

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Rootletin interacts with C-Nap1 and may function as a physical linker between the pair of centrioles/basal bodies in cells

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Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins

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The role of primary cilia in the development and disease of the retina

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Non-syndromic retinal ciliopathies: translating gene discovery into therapy

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The ciliopathies: a transitional model into systems biology of human genetic disease

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Genetics and pathological mechanisms of Usher syndrome

21 January 2018

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Retinal dystrophy in Bardet-Biedl syndrome and related syndromic ciliopathies

21 January 2018

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Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort.

21 January 2018

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Combining gene mapping and phenotype assessment for fast mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa families

21 January 2018

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CEP proteins: the knights of centrosome dynasty

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The centrosome in human genetic disease

21 January 2018

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The centrosomal protein C-Nap1 is required for cell cycle-regulated centrosome cohesion

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102287

Focus on molecules: rootletin

21 January 2018

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Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene

21 January 2018

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Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family

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10.1136/JMEDGENET-2014-102287

21 January 2018

Identifiers

DOI

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13 March 2018

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13 March 2018