Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.
Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22
Variant appearance in text: ABHD12: 769C>T; Arg257Trp
mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.
Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing.
Cold Spring Harbor Molecular Case Studies
Thiffault, Isabelle I; Atherton, Andrea A; Heese, Bryce A BA; T Abdelmoity, Ahmed A; Pawar, Kailash K; Farrow, Emily E; Zellmer, Lee L; Miller, Neil N; Soden, Sarah S; Saunders, Carol C
Publication Date: 2020-06
Variant appearance in text: ABHD12: 769C>T; Arg257Trp; rs41306784
Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK Biobank.
The Lancet. Respiratory Medicine
Wain, Louise V LV; Shrine, Nick N; Miller, Suzanne S; Jackson, Victoria E VE; Ntalla, Ioanna I; Soler Artigas, María M; Billington, Charlotte K CK; Kheirallah, Abdul Kader AK; Allen, Richard R; Cook, James P JP; Probert, Kelly K; Obeidat, Ma'en M; Bossé, Yohan Y; Hao, Ke K; Postma, Dirkje S DS; Paré, Peter D PD; Ramasamy, Adaikalavan A; , ; Mägi, Reedik R; Mihailov, Evelin E; Reinmaa, Eva E; Melén, Erik E; O'Connell, Jared J; Frangou, Eleni E; Delaneau, Olivier O; , ; Freeman, Colin C; Petkova, Desislava D; McCarthy, Mark M; Sayers, Ian I; Deloukas, Panos P; Hubbard, Richard R; Pavord, Ian I; Hansell, Anna L AL; Thomson, Neil C NC; Zeggini, Eleftheria E; Morris, Andrew P AP; Marchini, Jonathan J; Strachan, David P DP; Tobin, Martin D MD; Hall, Ian P IP