2015
Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening
Stuart BD, Choi J, Zaidi S, Xing C, Holohan B, Chen R, Choi M, Dharwadkar P, Torres F, Girod CE, Weissler J, Fitzgerald J, Kershaw C, Klesney-Tait J, Mageto Y, Shay JW, Ji W, Bilguvar K, Mane S, Lifton RP, Garcia CK. Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening. Nature Genetics 2015, 47: 512-517. PMID: 25848748, PMCID: PMC4414891, DOI: 10.1038/ng.3278.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overAmino Acid SequenceCase-Control StudiesCells, CulturedDNA HelicasesDNA Mutational AnalysisExomeExoribonucleasesFemaleGenetic Association StudiesGenetic Predisposition to DiseaseHumansIdiopathic Pulmonary FibrosisLeukocytesLod ScoreMaleMiddle AgedMolecular Sequence DataPedigreeTelomereTelomere Shortening
2008
Rare independent mutations in renal salt handling genes contribute to blood pressure variation
Ji W, Foo JN, O'Roak BJ, Zhao H, Larson MG, Simon DB, Newton-Cheh C, State MW, Levy D, Lifton RP. Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nature Genetics 2008, 40: 592-599. PMID: 18391953, PMCID: PMC3766631, DOI: 10.1038/ng.118.Peer-Reviewed Original ResearchMeSH KeywordsAdultAmino Acid SequenceAmino Acid SubstitutionBlood PressureCohort StudiesFemaleHeterozygoteHumansHypertensionKidneyMaleMiddle AgedMolecular Sequence DataMutationPotassium Channels, Inwardly RectifyingPrevalenceReceptors, DrugSodium ChlorideSodium-Potassium-Chloride SymportersSolute Carrier Family 12, Member 1Solute Carrier Family 12, Member 3SymportersConceptsIndependent mutationsCommon complex traitsCommon complex diseasesRare recessive diseaseBlood pressure variationComparative genomicsGenetic architectureComplex traitsFramingham Heart StudyTrait lociEffects of allelesRare allelesSignificant blood pressure reductionComplex diseasesBlood pressure reductionCommon variantsDevelopment of hypertensionMutationsAllelesGenesBlood pressureRisk allelesRenal saltRecessive diseaseGeneral population