Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08
Variant appearance in text: BSN: 11736G>A; Thr3912=; rs9858542
Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.
Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
Publication Date: 2022-06-29
Variant appearance in text: BSN: T3912T; rs9858542
Common genetic variants associated with melanoma risk or naevus count in patients with wildtype MC1R melanoma.
The British Journal Of Dermatology
Calbet-Llopart, Neus N; Combalia, Marc M; Kiroglu, Anil A; Potrony, Miriam M; Tell-Martí, Gemma G; Combalia, Andrea A; Brugues, Albert A; Podlipnik, Sebastian S; Carrera, Cristina C; Puig, Susana S; Malvehy, Josep J; Puig-Butillé, Joan Anton JA
Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders.
Nature Neuroscience
Yang, Chengran C; Farias, Fabiana H G FHG; Ibanez, Laura L; Suhy, Adam A; Sadler, Brooke B; Fernandez, Maria Victoria MV; Wang, Fengxian F; Bradley, Joseph L JL; Eiffert, Brett B; Bahena, Jorge A JA; Budde, John P JP; Li, Zeran Z; Dube, Umber U; Sung, Yun Ju YJ; Mihindukulasuriya, Kathie A KA; Morris, John C JC; Fagan, Anne M AM; Perrin, Richard J RJ; Benitez, Bruno A BA; Rhinn, Herve H; Harari, Oscar O; Cruchaga, Carlos C
Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders.
Nature Neuroscience
Yang, Chengran C; Farias, Fabiana H G FHG; Ibanez, Laura L; Suhy, Adam A; Sadler, Brooke B; Fernandez, Maria Victoria MV; Wang, Fengxian F; Bradley, Joseph L JL; Eiffert, Brett B; Bahena, Jorge A JA; Budde, John P JP; Li, Zeran Z; Dube, Umber U; Sung, Yun Ju YJ; Mihindukulasuriya, Kathie A KA; Morris, John C JC; Fagan, Anne M AM; Perrin, Richard J RJ; Benitez, Bruno A BA; Rhinn, Herve H; Harari, Oscar O; Cruchaga, Carlos C
Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.
Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08
Variant appearance in text: BSN: 11736G>A; T3912T; rs9858542
Genome-Wide Association Study Data Reveal Genetic Susceptibility to Chronic Inflammatory Intestinal Diseases and Pancreatic Ductal Adenocarcinoma Risk.
Cancer Research
Yuan, Fangcheng F; Hung, Rayjean J RJ; Walsh, Naomi N; Zhang, Han H; Platz, Elizabeth A EA; Wheeler, William W; Song, Lei L; Arslan, Alan A AA; Beane Freeman, Laura E LE; Bracci, Paige P; Canzian, Federico F; Du, Mengmeng M; Gallinger, Steven S; Giles, Graham G GG; Goodman, Phyllis J PJ; Kooperberg, Charles C; Le Marchand, Loic L; Neale, Rachel E RE; Rosendahl, Jonas J; Scelo, Ghislaine G; Shu, Xiao-Ou XO; Visvanathan, Kala K; White, Emily E; Zheng, Wei W; Albanes, Demetrius D; Amiano, Pilar P; Andreotti, Gabriella G; Babic, Ana A; Bamlet, William R WR; Berndt, Sonja I SI; Brennan, Paul P; Bueno-de-Mesquita, Bas B; Buring, Julie E JE; Campbell, Peter T PT; Chanock, Stephen J SJ; Fuchs, Charles S CS; Gaziano, J Michael JM; Goggins, Michael G MG; Hackert, Thilo T; Hartge, Patricia P; Hassan, Manal M MM; Holly, Elizabeth A EA; Hoover, Robert N RN; Katzke, Verena V; Kirsten, Holger H; Kurtz, Robert C RC; Lee, I-Min IM; Malats, Nuria N; Milne, Roger L RL; Murphy, Neil N; Ng, Kimmie K; Oberg, Ann L AL; Porta, Miquel M; Rabe, Kari G KG; Real, Francisco X FX; Rothman, Nathaniel N; Sesso, Howard D HD; Silverman, Debra T DT; Thompson, Ian M IM; Wactawski-Wende, Jean J; Wang, Xiaoliang X; Wentzensen, Nicolas N; Wilkens, Lynne R LR; Yu, Herbert H; Zeleniuch-Jacquotte, Anne A; Shi, Jianxin J; Duell, Eric J EJ; Amundadottir, Laufey T LT; Li, Donghui D; Petersen, Gloria M GM; Wolpin, Brian M BM; Risch, Harvey A HA; Yu, Kai K; Klein, Alison P AP; Stolzenberg-Solomon, Rachael R
Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.
Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09
Variant appearance in text: BSN: T3912T; rs9858542
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
Fine-mapping inflammatory bowel disease loci to single-variant resolution.
Nature
Huang, Hailiang H; Fang, Ming M; Jostins, Luke L; Umićević Mirkov, Maša M; Boucher, Gabrielle G; Anderson, Carl A CA; Andersen, Vibeke V; Cleynen, Isabelle I; Cortes, Adrian A; Crins, François F; D'Amato, Mauro M; Deffontaine, Valérie V; Dmitrieva, Julia J; Docampo, Elisa E; Elansary, Mahmoud M; Farh, Kyle Kai-How KK; Franke, Andre A; Gori, Ann-Stephan AS; Goyette, Philippe P; Halfvarson, Jonas J; Haritunians, Talin T; Knight, Jo J; Lawrance, Ian C IC; Lees, Charlie W CW; Louis, Edouard E; Mariman, Rob R; Meuwissen, Theo T; Mni, Myriam M; Momozawa, Yukihide Y; Parkes, Miles M; Spain, Sarah L SL; Théâtre, Emilie E; Trynka, Gosia G; Satsangi, Jack J; van Sommeren, Suzanne S; Vermeire, Severine S; Xavier, Ramnik J RJ; , ; Weersma, Rinse K RK; Duerr, Richard H RH; Mathew, Christopher G CG; Rioux, John D JD; McGovern, Dermot P B DPB; Cho, Judy H JH; Georges, Michel M; Daly, Mark J MJ; Barrett, Jeffrey C JC
Publication Date: 2017-07-13
Variant appearance in text: BSN: T3912T; rs9858542
Crohn's Disease Localization Displays Different Predisposing Genetic Variants.
Plos One
Palmieri, Orazio O; Bossa, Fabrizio F; Valvano, Maria Rosa MR; Corritore, Giuseppe G; Latiano, Tiziana T; Martino, Giuseppina G; D'Incà, Renata R; Cucchiara, Salvatore S; Pastore, Maria M; D'Altilia, Mario M; Scimeca, Daniela D; Biscaglia, Giuseppe G; Andriulli, Angelo A; Latiano, Anna A
Systematic meta-analyses and field synopsis of genetic and epigenetic studies in paediatric inflammatory bowel disease.
Scientific Reports
Li, Xue X; Song, Peige P; Timofeeva, Maria M; Meng, Xiangrui X; Rudan, Igor I; Little, Julian J; Satsangi, Jack J; Campbell, Harry H; Theodoratou, Evropi E
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: BSN: T3912T; rs9858542
An analysis of genetic factors related to risk of inflammatory bowel disease and colon cancer.
Cancer Epidemiology
Ryan, Bríd M BM; Wolff, Roger K RK; Valeri, Nicola N; Khan, Mohammed M; Robinson, Dillon D; Paone, Alessio A; Bowman, Elise D ED; Lundgreen, Abbie A; Caan, Bette B; Potter, John J; Brown, Derek D; Croce, Carlo C; Slattery, Martha L ML; Harris, Curtis C CC
Nalls, Mike A MA; Saad, Mohamad M; Noyce, Alastair J AJ; Keller, Margaux F MF; Schrag, Anette A; Bestwick, Jonathan P JP; Traynor, Bryan J BJ; Gibbs, J Raphael JR; Hernandez, Dena G DG; Cookson, Mark R MR; Morris, Huw R HR; Williams, Nigel N; Gasser, Thomas T; Heutink, Peter P; Wood, Nick N; Hardy, John J; Martinez, Maria M; Singleton, Andrew B AB; , ; , ; , ; ,
Distinct and overlapping genetic loci in Crohn's disease and ulcerative colitis: correlations with pathogenesis.
Inflammatory Bowel Diseases
Waterman, Matti M; Xu, Wei W; Stempak, Joanne M JM; Milgrom, Raquel R; Bernstein, Charles N CN; Griffiths, Anne M AM; Greenberg, Gordon R GR; Steinhart, A Hillary AH; Silverberg, Mark S MS
Presymptomatic risk assessment for chronic non-communicable diseases.
Plos One
Padhukasahasram, Badri B; Halperin, Eran E; Wessel, Jennifer J; Thomas, Daryl J DJ; Silver, Elana E; Trumbower, Heather H; Cargill, Michele M; Stephan, Dietrich A DA
Interaction of Crohn's disease susceptibility genes in an Australian paediatric cohort.
Plos One
Wagner, Josef J; Sim, Winnie H WH; Ellis, Justine A JA; Ong, Eng K EK; Catto-Smith, Anthony G AG; Cameron, Donald J S DJ; Bishop, Ruth F RF; Kirkwood, Carl D CD
Publication Date: 2010-11-08
Variant appearance in text: BSN: Thr3912Thr; rs9858542
Association of linear growth impairment in pediatric Crohn's disease and a known height locus: a pilot study.
Annals Of Human Genetics
Lee, Jessica J JJ; Essers, Jonah B JB; Kugathasan, Subra S; Escher, Johanna C JC; Lettre, Guillaume G; Butler, Johannah L JL; Stephens, Michael C MC; Ramoni, Marco F MF; Grand, Richard J RJ; Hirschhorn, Joel J
Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations.
Plos Genetics
Nica, Alexandra C AC; Montgomery, Stephen B SB; Dimas, Antigone S AS; Stranger, Barbara E BE; Beazley, Claude C; Barroso, Inês I; Dermitzakis, Emmanouil T ET
Gene-centric association mapping of chromosome 3p implicates MST1 in IBD pathogenesis.
Mucosal Immunology
Goyette, P P; Lefebvre, C C; Ng, A A; Brant, S R SR; Cho, J H JH; Duerr, R H RH; Silverberg, M S MS; Taylor, K D KD; Latiano, A A; Aumais, G G; Deslandres, C C; Jobin, G G; Annese, V V; Daly, M J MJ; Xavier, R J RJ; Rioux, J D JD
Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes.
Diabetologia
Rafiq, S S; Melzer, D D; Weedon, M N MN; Lango, H H; Saxena, R R; Scott, L J LJ; , ; Palmer, C N A CN; Morris, A D AD; McCarthy, M I MI; Ferrucci, L L; Hattersley, A T AT; Zeggini, E E; Frayling, T M TM
Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease.
Nature Genetics
Fisher, Sheila A SA; Tremelling, Mark M; Anderson, Carl A CA; Gwilliam, Rhian R; Bumpstead, Suzannah S; Prescott, Natalie J NJ; Nimmo, Elaine R ER; Massey, Dunecan D; Berzuini, Carlo C; Johnson, Christopher C; Barrett, Jeffrey C JC; Cummings, Fraser R FR; Drummond, Hazel H; Lees, Charlie W CW; Onnie, Clive M CM; Hanson, Catherine E CE; Blaszczyk, Katarzyna K; Inouye, Mike M; Ewels, Philip P; Ravindrarajah, Radhi R; Keniry, Andrew A; Hunt, Sarah S; Carter, Martyn M; Watkins, Nick N; Ouwehand, Willem W; Lewis, Cathryn M CM; Cardon, Lon L; , ; Lobo, Alan A; Forbes, Alastair A; Sanderson, Jeremy J; Jewell, Derek P DP; Mansfield, John C JC; Deloukas, Panos P; Mathew, Christopher G CG; Parkes, Miles M; Satsangi, Jack J
Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.
Nature Genetics
Parkes, Miles M; Barrett, Jeffrey C JC; Prescott, Natalie J NJ; Tremelling, Mark M; Anderson, Carl A CA; Fisher, Sheila A SA; Roberts, Roland G RG; Nimmo, Elaine R ER; Cummings, Fraser R FR; Soars, Dianne D; Drummond, Hazel H; Lees, Charlie W CW; Khawaja, Saud A SA; Bagnall, Richard R; Burke, Denis A DA; Todhunter, Catherine E CE; Ahmad, Tariq T; Onnie, Clive M CM; McArdle, Wendy W; Strachan, David D; Bethel, Graeme G; Bryan, Claire C; Lewis, Cathryn M CM; Deloukas, Panos P; Forbes, Alastair A; Sanderson, Jeremy J; Jewell, Derek P DP; Satsangi, Jack J; Mansfield, John C JC; , ; Cardon, Lon L; Mathew, Christopher G CG