Common and rare variants in patients with early onset drusen maculopathy.
Clinical Genetics
de Breuk, Anita A; Lechanteur, Yara T E YTE; Astuti, Galuh G; Galbany, Jordi Corominas JC; Klaver, Caroline C W CCW; Hoyng, Carel B CB; den Hollander, Anneke I AI
Publication Date: 2022-11
Variant appearance in text: SERPINA6: *767+1G>A; Leu115His
Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.
Frontiers In Genetics
Aguiar, Talita T; Teixeira, Anne A; Scliar, Marília O MO; Sobral de Barros, Juliana J; Lemes, Renan B RB; Souza, Silvia S; Tolezano, Giovanna G; Santos, Fernanda F; Tojal, Israel I; Cypriano, Monica M; Caminada de Toledo, Silvia Regina SR; Valadares, Eugênia E; Borges Pinto, Raquel R; Pinto Artigalas, Osvaldo Afonso OA; Caetano de Aguirre Neto, Joaquim J; Novak, Estela E; Cristofani, Lilian Maria LM; Miura Sugayama, Sofia M SM; Odone, Vicente V; Cunha, Isabela Werneck IW; Lima da Costa, Cecilia Maria CM; Rosenberg, Carla C; Krepischi, Ana A
Publication Date: 2022
Variant appearance in text: SERPINA6: 344T>A; rs113418909
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Molecular Psychiatry
Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ
Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.
Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
Loss of human ICOSL results in combined immunodeficiency.
The Journal Of Experimental Medicine
Roussel, Lucie L; Landekic, Marija M; Golizeh, Makan M; Gavino, Christina C; Zhong, Ming-Chao MC; Chen, Jun J; Faubert, Denis D; Blanchet-Cohen, Alexis A; Dansereau, Luc L; Parent, Marc-Antoine MA; Marin, Sonia S; Luo, Julia J; Le, Catherine C; Ford, Brinley R BR; Langelier, Mélanie M; King, Irah L IL; Divangahi, Maziar M; Foulkes, William D WD; Veillette, André A; Vinh, Donald C DC
Publication Date: 2018-12-03
Variant appearance in text: SERPINA6: L115H; rs113418909
Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.
Cell Reports
Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z
Publication Date: 2018-10-30
Variant appearance in text: SERPINA6: L115H; rs113418909
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Publication Date: 2018-02-15
Variant appearance in text: SERPINA6: L115H; rs113418909
Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.
Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21
Variant appearance in text: SERPINA6: 344T>A; L115H; rs113418909
The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.
Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26
Variant appearance in text: SERPINA6: 344T>A; L115H; rs113418909
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014
Variant appearance in text: SERPINA6: L115H; rs113418909
Genome wide association identifies common variants at the SERPINA6/SERPINA1 locus influencing plasma cortisol and corticosteroid binding globulin.
Plos Genetics
Bolton, Jennifer L JL; Hayward, Caroline C; Direk, Nese N; Lewis, John G JG; Hammond, Geoffrey L GL; Hill, Lesley A LA; Anderson, Anna A; Huffman, Jennifer J; Wilson, James F JF; Campbell, Harry H; Rudan, Igor I; Wright, Alan A; Hastie, Nicholas N; Wild, Sarah H SH; Velders, Fleur P FP; Hofman, Albert A; Uitterlinden, Andre G AG; Lahti, Jari J; Räikkönen, Katri K; Kajantie, Eero E; Widen, Elisabeth E; Palotie, Aarno A; Eriksson, Johan G JG; Kaakinen, Marika M; Järvelin, Marjo-Riitta MR; Timpson, Nicholas J NJ; Davey Smith, George G; Ring, Susan M SM; Evans, David M DM; St Pourcain, Beate B; Tanaka, Toshiko T; Milaneschi, Yuri Y; Bandinelli, Stefania S; Ferrucci, Luigi L; van der Harst, Pim P; Rosmalen, Judith G M JG; Bakker, Stephen J L SJ; Verweij, Niek N; Dullaart, Robin P F RP; Mahajan, Anubha A; Lindgren, Cecilia M CM; Morris, Andrew A; Lind, Lars L; Ingelsson, Erik E; Anderson, Laura N LN; Pennell, Craig E CE; Lye, Stephen J SJ; Matthews, Stephen G SG; Eriksson, Joel J; Mellstrom, Dan D; Ohlsson, Claes C; Price, Jackie F JF; Strachan, Mark W J MW; Reynolds, Rebecca M RM; Tiemeier, Henning H; Walker, Brian R BR; ,
Publication Date: 2014-07
Variant appearance in text: SERPINA6: Leu115His; rs113418909
Investigation of genetic variants, birthweight and hypothalamic-pituitary-adrenal axis function suggests a genetic variant in the SERPINA6 gene is associated with corticosteroid binding globulin in the western Australia pregnancy cohort (Raine) study.
Plos One
Anderson, Laura N LN; Briollais, Laurent L; Atkinson, Helen C HC; Marsh, Julie A JA; Xu, Jingxiong J; Connor, Kristin L KL; Matthews, Stephen G SG; Pennell, Craig E CE; Lye, Stephen J SJ