2016
Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus
Li N, Subrahmanyan L, Smith E, Yu X, Zaidi S, Choi M, Mane S, Nelson-Williams C, Behjati M, Kazemi M, Hashemi M, Fathzadeh M, Narayanan A, Tian L, Montazeri F, Mani M, Begleiter ML, Coon BG, Lynch HT, Olson EN, Zhao H, Ruland J, Lifton RP, Mani A. Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus. American Journal Of Human Genetics 2016, 98: 1082-1091. PMID: 27181681, PMCID: PMC4908195, DOI: 10.1016/j.ajhg.2016.03.022.Peer-Reviewed Original ResearchConceptsVascular smooth muscle cellsHistone methyl transferase activityWhole-exome sequencingGenome-wide linkage analysisWild-type proteinPatent ductus arteriosusMethyl transferase activityEpigenetic regulationLoss of functionTranscriptional suppressorNuclear proteinsPremature differentiationMethyltransferase activityCommon congenital heart defectUndifferentiated stageIndependent mutationsDuctus arteriosusLinkage analysisIntracellular redistributionNumber of VSMCsPRDM6Smooth muscle cellsProteinMutationsDisease mechanisms
2014
Wnt signaling, de novo lipogenesis, adipogenesis and ectopic fat
Song K, Wang S, Mani M, Mani A. Wnt signaling, de novo lipogenesis, adipogenesis and ectopic fat. Oncotarget 2014, 5: 11000-11003. PMID: 25526027, PMCID: PMC4294374, DOI: 10.18632/oncotarget.2769.Peer-Reviewed Original ResearchConceptsNon-alcoholic fatty liver diseaseFatty liver diseaseDe novo lipogenesisEctopic fatLiver diseaseNovo lipogenesisMesenchymal stem cellsElevated plasma lipidsHigher plasma triglyceridesMetabolic syndromePlasma lipidsCoronary arteryInsulin resistancePlasma triglyceridesLoss of functionWnt coreceptor LRP6Diverse congenitalPertinent findingsFunction mutationsAdipogenesisCoreceptor LRP6DiseaseStem cellsLipogenesisMajor regulator