IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome - Test2 - elhamkhani - TriplyDB

IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome

IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome

http://www.wikidata.org/entity/Q28307163

about

Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein The intraflagellar transport protein IFT27 promotes BBSome exit from cilia through the GTPase ARL6/BBS3.Bardet-Biedl Syndrome IFT27 links the BBSome to IFT for maintenance of the ciliary signaling compartment.Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management Genetics and genomic medicine in Saudi Arabia Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants.Functional characterization of Prickle2 and BBS7 identify overlapping phenotypes yet distinct mechanisms.Direct evidence for BBSome-associated intraflagellar transport reveals distinct properties of native mammalian cilia.IFT81 as a Candidate Gene for Nonsyndromic Retinal Degeneration.VaRank: a simple and powerful tool for ranking genetic variants Genetic predictors of cardiovascular morbidity in Bardet-Biedl syndrome.Cilia and Diseases Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in BBS2 Gene in a Family with Bardet-Biedl Syndrome Intraflagellar transport 27 is essential for hedgehog signaling but dispensable for ciliogenesis during hair follicle morphogenesis.Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome Whole organism transcriptome analysis of zebrafish models of Bardet-Biedl Syndrome and Alström Syndrome provides mechanistic insight into shared and divergent phenotypes.IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.Whole-Organism Developmental Expression Profiling Identifies RAB-28 as a Novel Ciliary GTPase Associated with the BBSome and Intraflagellar Transport.Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21)Unmasking the ciliopathies: craniofacial defects and the primary cilium.Bardet-Biedl syndrome: Is it only cilia dysfunction?BBS4 regulates the expression and secretion of FSTL1, a protein that participates in ciliogenesis and the differentiation of 3T3-L1.Chlamydomonas IFT25 is dispensable for flagellar assembly but required to export the BBSome from flagella.Genetics of human Bardet-Biedl syndrome, an updates.Bardet-Biedl syndrome 3 regulates the development of cranial base midline structures The cilium: a cellular antenna with an influence on obesity risk.The Intraflagellar Transport Machinery.Ciliopathies.Photoreceptor Cilia and Retinal Ciliopathies.A systematic review of genetic syndromes with obesity.Primary Cilia in Cystic Kidney Disease.Genes and molecular pathways underpinning ciliopathies.Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.Together, the IFT81 and IFT74 N-termini form the main module for intraflagellar transport of tubulin.Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.Structural basis for membrane targeting of the BBSome by ARL6 Exome Sequencing of a Family with Bardet-Biedl Syndrome Identifies the Common Russian Mutation c.1967_1968delTAinsC in BBS7.Primary cilia in rat mature Müller glia: downregulation of IFT20 expression reduces sonic hedgehog-mediated proliferation and dedifferentiation potential of Müller glia primary cultures.

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P2860

IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome

http://www.wikidata.org/entity/Q28307163

description

2014 nî lūn-bûn

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2014 թուականի Յունիսին հրատարակուած գիտական յօդուած

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2014 թվականի հունիսին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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name

IFT27, encoding a small GTPase ...... ily with Bardet-Biedl syndrome

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IFT27, encoding a small GTPase ...... ily with Bardet-Biedl syndrome

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IFT27, encoding a small GTPase ...... ily with Bardet-Biedl syndrome

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type

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IFT27, encoding a small GTPase ...... ily with Bardet-Biedl syndrome

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IFT27, encoding a small GTPase ...... ily with Bardet-Biedl syndrome

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IFT27, encoding a small GTPase ...... ily with Bardet-Biedl syndrome

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IFT27, encoding a small GTPase ...... ily with Bardet-Biedl syndrome

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IFT27, encoding a small GTPase ...... ily with Bardet-Biedl syndrome

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IFT27, encoding a small GTPase ...... ily with Bardet-Biedl syndrome

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Human Molecular Genetics

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IFT27, encoding a small GTPase ...... ily with Bardet-Biedl syndrome

@en

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Abdullah Alkharashi

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

Ali A Awaji

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

Amal Alhashem

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

Hisham Alkuraya

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

Mais Hashem

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

Mohammed A Aldahmesh

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

Saeed Alzahrani

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

Sameera Sogaty

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

Selwa A Al Hazzaa

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

Shams Anazi

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

P2860

I-TASSER server for protein 3D structure prediction

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

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

BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes

A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

A BBSome subunit links ciliogenesis, microtubule stability, and acetylation

The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

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3307-15

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scholarly article

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1899758

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10.1093/HMG/DDU044

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12

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23

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Fowzan S Alkuraya

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2014-06-15T00:00:00Z

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24488770

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4047285

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