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Dissection of epistasis in oligogenic Bardet-Biedl syndrome

Dissection of epistasis in oligogenic Bardet-Biedl syndrome

http://www.wikidata.org/entity/Q24297989

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A model of gene-gene and gene-environment interactions and its implications for targeting environmental interventions by genotype Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndrome Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies Nephrocystin-3 is required for ciliary function in zebrafish embryos Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia Pitchfork regulates primary cilia disassembly and left-right asymmetry Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290 A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome Update on the genetics of bardet-biedl syndrome An essential role for DYF-11/MIP-T3 in assembling functional intraflagellar transport complexes Mutations in a guanylate cyclase GCY-35/GCY-36 modify Bardet-Biedl syndrome-associated phenotypes in Caenorhabditis elegans Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19 Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes Fitness ranking of individual mutants drives patterns of epistatic interactions in HIV-1 Complex interactions between genes controlling trafficking in primary cilia Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice Knockdown of Bardet-Biedl syndrome gene BBS9/PTHB1 leads to cilia defects Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination A Nondegenerate Code of Deleterious Variants in Mendelian Loci Contributes to Complex Disease Risk In vivo modeling of the morbid human genome using Danio rerio The use of the restricted partition method with case-control data.Detection of gene x gene interactions in genome-wide association studies of human population data.Genome-wide prediction of functional gene-gene interactions inferred from patterns of genetic differentiation in mice and men.Joubert syndrome: insights into brain development, cilium biology, and complex disease.Normal ciliogenesis requires synergy between the cystic kidney disease genes MKS-3 and NPHP-4.Saturation of the human phenome Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome The intraflagellar transport protein ift80 is essential for photoreceptor survival in a zebrafish model of jeune asphyxiating thoracic dystrophy Genetic kidney diseases.Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning

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Dissection of epistasis in oligogenic Bardet-Biedl syndrome

http://www.wikidata.org/entity/Q24297989

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2006 nî lūn-bûn

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2006 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2006年の論文

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2006年論文

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2006年論文

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Dissection of epistasis in oligogenic Bardet-Biedl syndrome

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Dissection of epistasis in oligogenic Bardet-Biedl syndrome

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Dissection of epistasis in oligogenic Bardet-Biedl syndrome

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Dissection of epistasis in oligogenic Bardet-Biedl syndrome

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type

label

Dissection of epistasis in oligogenic Bardet-Biedl syndrome

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Dissection of epistasis in oligogenic Bardet-Biedl syndrome

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Dissection of epistasis in oligogenic Bardet-Biedl syndrome

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Dissection of epistasis in oligogenic Bardet-Biedl syndrome

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prefLabel

Dissection of epistasis in oligogenic Bardet-Biedl syndrome

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Dissection of epistasis in oligogenic Bardet-Biedl syndrome

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Dissection of epistasis in oligogenic Bardet-Biedl syndrome

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Dissection of epistasis in oligogenic Bardet-Biedl syndrome

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Dissection of epistasis in oligogenic Bardet-Biedl syndrome

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Carmen C Leitch

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Harry C Dietz

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Helen May-Simera

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Philip L Beales

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Richard Alan Lewis

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Shaneka Lawson

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Shannon Fisher

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Stephen J Ansley

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P2860

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

The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression

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.

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

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

Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.

Isolation of a complementary DNA that encodes the mammalian splicing factor SC35

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

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

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326-30

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3712409

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10.1038/NATURE04370

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7074

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439

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Nicholas Katsanis

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2006-01-19T00:00:00Z

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7441266

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