Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration - Wikidata - wikimedia - TriplyDB

Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration

Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration

http://www.wikidata.org/entity/Q34718121

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The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome Retinal dystrophies, genomic applications in diagnosis and prospects for therapy The Musashi 1 Controls the Splicing of Photoreceptor-Specific Exons in the Vertebrate Retina Mutations in a guanylate cyclase GCY-35/GCY-36 modify Bardet-Biedl syndrome-associated phenotypes in Caenorhabditis elegans Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement Cluap1 is essential for ciliogenesis and photoreceptor maintenance in the vertebrate eye.Functional assessment of human coding mutations affecting skin pigmentation using zebrafish.The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking.Alternative Splicing Shapes the Phenotype of a Mutation in BBS8 To Cause Nonsyndromic Retinitis Pigmentosa Subretinal gene therapy of mice with Bardet-Biedl syndrome type 1.Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21)Functional modelling of a novel mutation in BBS5.Genetics of human Bardet-Biedl syndrome, an updates.Automated, high-throughput, in vivo analysis of visual function using the zebrafish.Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein.RBFOX and PTBP1 proteins regulate the alternative splicing of micro-exons in human brain transcripts.A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)-creating mutation.C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies.

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Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration

http://www.wikidata.org/entity/Q34718121

description

2011 nî lūn-bûn

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2011 թուականի Յունուարին հրատարակուած գիտական յօդուած

@hyw

2011 թվականի հունվարին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

@zh-tw

2011年论文

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name

Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration

@ast

Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration

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Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration

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type

label

Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration

@ast

Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration

@en

Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration

@nl

prefLabel

Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration

@ast

Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration

@en

Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration

@nl

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Human Molecular Genetics

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Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration

@en

P2093

Diane C Slusarski

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

Pamela R Pretorius

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P2860

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function

Bardet-Biedl syndrome-associated small GTPase ARL6 (BBS3) functions at or near the ciliary gate and modulates Wnt signaling

Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71

Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families

Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3)

Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene

Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)

Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport

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1625-1632

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scholarly article

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10.1093/HMG/DDR039

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8

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20

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Mohammed A Aldahmesh

Val C Sheffield

Fowzan S Alkuraya

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2011-01-31T00:00:00Z

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49799271

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21282186

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3063988

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