{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Kundishora AJ"],"funding":["NCATS NIH HHS","NIA NIH HHS","NHLBI NIH HHS"],"pagination":["993-1003"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8204259"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["78(8)"],"pubmed_abstract":["<h4>Importance</h4>Moyamoya disease (MMD), a progressive vasculopathy leading to narrowing and ultimate occlusion of the intracranial internal carotid arteries, is a cause of childhood stroke. The cause of MMD is poorly understood, but genetic factors play a role. Several familial forms of MMD have been identified, but the cause of most cases remains elusive, especially among non-East Asian individuals.<h4>Objective</h4>To assess whether ultrarare de novo and rare, damaging transmitted variants with large effect sizes are associated with MMD risk.<h4>Design, setting, and participants</h4>A genetic association study was conducted using whole-exome sequencing case-parent MMD trios in a small discovery cohort collected over 3.5 years (2016-2019); data were analyzed in 2020. Medical records fr"],"journal":["JAMA neurology"],"pubmed_title":["DIAPH1 Variants in Non-East Asian Patients With Sporadic Moyamoya Disease."],"pmcid":["PMC8204259"],"funding_grant_id":["UL1 TR001863","T35 AG049685","R00 HL143036","R00 HL125683"],"pubmed_authors":["Dong W","Smith ER","Barak T","Ocken J","Diab NS","Duy PQ","Walker RL","Roszko I","Gunel M","Kundishora AJ","Pinard A","Zhao S","Nelson-Williams C","Milewicz DM","Reeves BC","Li B","Sujijantarat N","Robert SM","Zhang B","Matouk CC","Geschwind DH","Zhao H","Storm PB","Jin SC","Stratman AN","Dunbar A","Smith H","Alper SL","Nickerson DA","Duran D","Chen SL","Panchagnula S","Mane S","Bamshad MJ","Kahle KT","Castaldi C","Knight JR","Diluna ML","Thumkeo D","Miyagishima DF","Orbach DB","Marlier A","Peters ST","Haider S","Chen YH","Lopez-Giraldez F","Lifton RP","Lu Q"],"additional_accession":[]},"is_claimable":false,"name":"DIAPH1 Variants in Non-East Asian Patients With Sporadic Moyamoya Disease.","description":"<h4>Importance</h4>Moyamoya disease (MMD), a progressive vasculopathy leading to narrowing and ultimate occlusion of the intracranial internal carotid arteries, is a cause of childhood stroke. The cause of MMD is poorly understood, but genetic factors play a role. Several familial forms of MMD have been identified, but the cause of most cases remains elusive, especially among non-East Asian individuals.<h4>Objective</h4>To assess whether ultrarare de novo and rare, damaging transmitted variants with large effect sizes are associated with MMD risk.<h4>Design, setting, and participants</h4>A genetic association study was conducted using whole-exome sequencing case-parent MMD trios in a small discovery cohort collected over 3.5 years (2016-2019); data were analyzed in 2020. Medical records fr","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Aug","modification":"2026-05-09T03:20:49.852Z","creation":"2025-04-04T22:14:58.303Z"},"accession":"S-EPMC8204259","cross_references":{"pubmed":["34125151"],"doi":["10.1001/jamaneurol.2021.1681"]}}