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
2007
GENETICS OF INTRACRANIAL ANEURYSMS
Nahed BV, Bydon M, Ozturk AK, Bilguvar K, Bayrakli F, Gunel M. GENETICS OF INTRACRANIAL ANEURYSMS. Neurosurgery 2007, 60: 213-226. PMID: 17290171, DOI: 10.1227/01.neu.0000249270.18698.bb.Peer-Reviewed Original ResearchConceptsIntracranial aneurysmsRisk factorsPatient-specific risk factorsGenetic susceptibilityAneurysmal subarachnoid hemorrhageHigh-risk individualsSpecific risk factorsIA pathogenesisNovel therapeutic strategiesRupture of aneurysmsDiagnosis of IAAsymptomatic patientsMedical comorbiditiesFormation of IAsPoor prognosisSubarachnoid hemorrhageEarly diagnosisEpidemiological studiesTherapeutic strategiesPreclinical settingDisease pathophysiologyOverall outcomePatientsAneurysmsModest improvement