BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance
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Dissection of epistasis in oligogenic Bardet-Biedl syndromeIdentification 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 SyndromeConserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary SignalingKnockdown of ttc26 disrupts ciliogenesis of the photoreceptor cells and the pronephros in zebrafishAtaxia, dementia, and hypogonadotropism caused by disordered ubiquitinationNPHP4 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 syndromeAntenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterningCloning 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 mappingCilia involvement in patterning and maintenance of the skeletonThe human obesity gene map: the 2002 update.Obesity--is it a genetic disorder?Exome capture sequencing identifies a novel mutation in BBS4Contrasting 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 syndromesBardet-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 SyndromeMutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.Digenic inheritance in medical geneticsGenetic 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 familyBardet-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
P2860
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P2860
BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance
description
2002 nî lūn-bûn
@nan
2002 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
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BBS4 is a minor contributor to ...... pate in triallelic inheritance
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BBS4 is a minor contributor to ...... pate in triallelic inheritance
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BBS4 is a minor contributor to ...... pate in triallelic inheritance
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BBS4 is a minor contributor to ...... pate in triallelic inheritance
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P2093
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P50
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BBS4 is a minor contributor to ...... pate in triallelic inheritance
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Bethan E Hoskins
Erica R Eichers
James R Lupski
Philip L Beales
Richard Alan Lewis
Stephen J Ansley
P2860
P3181
P356
10.1086/341031
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P577
2002-07-01T00:00:00Z