BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance - Wikidata - awgldk - TriplyDB

BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance

BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance

http://www.wikidata.org/entity/Q24632540

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Dissection of epistasis in oligogenic Bardet-Biedl syndrome Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)Bardet-Biedl Syndrome Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling Knockdown of ttc26 disrupts ciliogenesis of the photoreceptor cells and the pronephros in zebrafish Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination NPHP4 variants are associated with pleiotropic heart malformations.Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning Cloning and characterization of a splice variant of human Bardet-Biedl syndrome 4 gene (BBS4).Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping Cilia involvement in patterning and maintenance of the skeleton The human obesity gene map: the 2002 update.Obesity--is it a genetic disorder?Exome capture sequencing identifies a novel mutation in BBS4 Contrasting genetic architectures in different mouse reference populations used for studying complex traits.Use of isolated populations in the study of a human obesity syndrome, the Bardet-Biedl syndrome.BBS4 and BBS5 show functional redundancy in the BBSome to regulate the degradative sorting of ciliary sensory receptors.Identification of cis-suppression of human disease mutations by comparative genomics.Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes Bardet-Biedl syndrome.Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins.Double homozygous missense mutations in DACH1 and BMP4 in a patient with bilateral cystic renal dysplasia.Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy.Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.Digenic inheritance in medical genetics Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum.Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet-Biedl family Bardet-Biedl syndrome: Is it only cilia dysfunction?Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity.Genetics of human Bardet-Biedl syndrome, an updates.Structural and molecular bases of rod photoreceptor morphogenesis and disease.Ciliopathies.A systematic review of genetic syndromes with obesity.Understanding mutational effects in digenic diseases

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P2860

BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance

http://www.wikidata.org/entity/Q24632540

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2002 nî lūn-bûn

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2002 թուականի Յուլիսին հրատարակուած գիտական յօդուած

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2002年の論文

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2002年論文

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2002年論文

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2002年論文

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2002年論文

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P2093

Bethan E Hoskins

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Erica R Eichers

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James R Lupski

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Philip L Beales

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Richard Alan Lewis

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Stephen J Ansley

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P2860

A novel C-terminal binding protein (CTBP2) is closely related to CTBP1, an adenovirus E1A-binding protein, and maps to human chromosome 21q21.3

Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees.

Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci

A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31

New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)

Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping

Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15

Mutations in MKKS cause Bardet-Biedl syndrome.

Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome.

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22-9

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3117876

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10.1086/341031

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1

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71

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Nicholas Katsanis

Hülya Kayserili

Peter J Scambler

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2002-07-01T00:00:00Z

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11354346

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12016587

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384990

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