Dissection of epistasis in oligogenic Bardet-Biedl syndrome
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A model of gene-gene and gene-environment interactions and its implications for targeting environmental interventions by genotypeCharacterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndromeIndividuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathyDirect role of Bardet-Biedl syndrome proteins in transcriptional regulationCombining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesisA common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathiesNephrocystin-3 is required for ciliary function in zebrafish embryosLoss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasiaPitchfork regulates primary cilia disassembly and left-right asymmetryMutations 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 syndromesCC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese familyThe Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndromeIdentification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndromeUpdate on the genetics of bardet-biedl syndromeAn essential role for DYF-11/MIP-T3 in assembling functional intraflagellar transport complexesMutations in a guanylate cyclase GCY-35/GCY-36 modify Bardet-Biedl syndrome-associated phenotypes in Caenorhabditis elegansBardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease managementCiliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disordersIncomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypesFitness ranking of individual mutants drives patterns of epistatic interactions in HIV-1Complex interactions between genes controlling trafficking in primary ciliaInhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndromeGreat vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in miceKnockdown of Bardet-Biedl syndrome gene BBS9/PTHB1 leads to cilia defectsAtaxia, dementia, and hypogonadotropism caused by disordered ubiquitinationA Nondegenerate Code of Deleterious Variants in Mendelian Loci Contributes to Complex Disease RiskIn vivo modeling of the morbid human genome using Danio rerioThe 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 phenomeFunctional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndromeThe intraflagellar transport protein ift80 is essential for photoreceptor survival in a zebrafish model of jeune asphyxiating thoracic dystrophyGenetic kidney diseases.Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning
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P2860
Dissection of epistasis in oligogenic Bardet-Biedl syndrome
description
2006 nî lūn-bûn
@nan
2006 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Dissection of epistasis in oligogenic Bardet-Biedl syndrome
@ast
Dissection of epistasis in oligogenic Bardet-Biedl syndrome
@en
Dissection of epistasis in oligogenic Bardet-Biedl syndrome
@en-gb
Dissection of epistasis in oligogenic Bardet-Biedl syndrome
@nl
type
label
Dissection of epistasis in oligogenic Bardet-Biedl syndrome
@ast
Dissection of epistasis in oligogenic Bardet-Biedl syndrome
@en
Dissection of epistasis in oligogenic Bardet-Biedl syndrome
@en-gb
Dissection of epistasis in oligogenic Bardet-Biedl syndrome
@nl
prefLabel
Dissection of epistasis in oligogenic Bardet-Biedl syndrome
@ast
Dissection of epistasis in oligogenic Bardet-Biedl syndrome
@en
Dissection of epistasis in oligogenic Bardet-Biedl syndrome
@en-gb
Dissection of epistasis in oligogenic Bardet-Biedl syndrome
@nl
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P2860
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P356
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P1476
Dissection of epistasis in oligogenic Bardet-Biedl syndrome
@en
P2093
Carmen C Leitch
Harry C Dietz
Helen May-Simera
Philip L Beales
Richard Alan Lewis
Shaneka Lawson
Shannon Fisher
Stephen J Ansley
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P2888
P304
P3181
P356
10.1038/NATURE04370
P407
P577
2006-01-19T00:00:00Z
P5875
P6179
1015112636