2017
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
Jin SC, Homsy J, Zaidi S, Lu Q, Morton S, DePalma SR, Zeng X, Qi H, Chang W, Sierant MC, Hung WC, Haider S, Zhang J, Knight J, Bjornson RD, Castaldi C, Tikhonoa IR, Bilguvar K, Mane SM, Sanders SJ, Mital S, Russell MW, Gaynor JW, Deanfield J, Giardini A, Porter GA, Srivastava D, Lo CW, Shen Y, Watkins WS, Yandell M, Yost HJ, Tristani-Firouzi M, Newburger JW, Roberts AE, Kim R, Zhao H, Kaltman JR, Goldmuntz E, Chung WK, Seidman JG, Gelb BD, Seidman CE, Lifton RP, Brueckner M. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nature Genetics 2017, 49: 1593-1601. PMID: 28991257, PMCID: PMC5675000, DOI: 10.1038/ng.3970.Peer-Reviewed Original ResearchMeSH KeywordsAdultAutistic DisorderCardiac MyosinsCase-Control StudiesChildExomeFemaleGene ExpressionGenetic Predisposition to DiseaseGenome-Wide Association StudyGrowth Differentiation Factor 1Heart Defects, CongenitalHeterozygoteHigh-Throughput Nucleotide SequencingHomozygoteHumansMaleMutationMyosin Heavy ChainsPedigreeRiskVascular Endothelial Growth Factor Receptor-3
1997
Mutation of an axonemal dynein affects left–right asymmetry in inversus viscerum mice
Supp D, Witte D, Potter S, Brueckner M. Mutation of an axonemal dynein affects left–right asymmetry in inversus viscerum mice. Nature 1997, 389: 963-966. PMID: 9353118, PMCID: PMC1800588, DOI: 10.1038/40140.Peer-Reviewed Original ResearchConceptsAxonemal dynein heavy chain geneDynein heavy chain geneAsymmetric expression patternMicrotubule-based motorsEmbryonic day 7.5Vertebrate patterningLeft-right axisGenetic hierarchyLeft-right asymmetryEarly molecular mechanismsPositional cloningHeavy chain geneInversus viscerum (iv) mouseGene productsVisceral asymmetryAxonemal dyneinsSymmetrical embryosExpression patternsMolecular mechanismsLR determinationMolecular levelDay 7.5EmbryosLateralization defectsDynein