Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.
Nature Genetics
Robertson, Catherine C CC; Inshaw, Jamie R J JRJ; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Santa Cruz, David Flores DF; Yang, Hanzhi H; Cutler, Antony J AJ; Crouch, Daniel J M DJM; Farber, Emily E; Bridges, S Louis SL; Edberg, Jeffrey C JC; Kimberly, Robert P RP; Buckner, Jane H JH; Deloukas, Panos P; Divers, Jasmin J; Dabelea, Dana D; Lawrence, Jean M JM; Marcovina, Santica S; Shah, Amy S AS; Greenbaum, Carla J CJ; Atkinson, Mark A MA; Gregersen, Peter K PK; Oksenberg, Jorge R JR; Pociot, Flemming F; Rewers, Marian J MJ; Steck, Andrea K AK; Dunger, David B DB; , ; Wicker, Linda S LS; Concannon, Patrick P; Todd, John A JA; Rich, Stephen S SS
Publication Date: 2021-07
Variant appearance in text: PRKCQ: R616R; rs11258747
Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.
Nature Genetics
Robertson, Catherine C CC; Inshaw, Jamie R J JRJ; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Santa Cruz, David Flores DF; Yang, Hanzhi H; Cutler, Antony J AJ; Crouch, Daniel J M DJM; Farber, Emily E; Bridges, S Louis SL; Edberg, Jeffrey C JC; Kimberly, Robert P RP; Buckner, Jane H JH; Deloukas, Panos P; Divers, Jasmin J; Dabelea, Dana D; Lawrence, Jean M JM; Marcovina, Santica S; Shah, Amy S AS; Greenbaum, Carla J CJ; Atkinson, Mark A MA; Gregersen, Peter K PK; Oksenberg, Jorge R JR; Pociot, Flemming F; Rewers, Marian J MJ; Steck, Andrea K AK; Dunger, David B DB; , ; Wicker, Linda S LS; Concannon, Patrick P; Todd, John A JA; Rich, Stephen S SS
Publication Date: 2021-07
Variant appearance in text: PRKCQ: R616R; rs11258747
Clinical and genetic correlates of islet-autoimmune signatures in juvenile-onset type 1 diabetes.
Diabetologia
Claessens, Laura A LA; Wesselius, Joris J; van Lummel, Menno M; Laban, Sandra S; Mulder, Flip F; Mul, Dick D; Nikolic, Tanja T; Aanstoot, Henk-Jan HJ; Koeleman, Bobby P C BPC; Roep, Bart O BO
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: PRKCQ: R616R; rs11258747
First Genome-Wide Association Study of Latent Autoimmune Diabetes in Adults Reveals Novel Insights Linking Immune and Metabolic Diabetes.
Diabetes Care
Cousminer, Diana L DL; Ahlqvist, Emma E; Mishra, Rajashree R; Andersen, Mette K MK; Chesi, Alessandra A; Hawa, Mohammad I MI; Davis, Asa A; Hodge, Kenyaita M KM; Bradfield, Jonathan P JP; Zhou, Kaixin K; Guy, Vanessa C VC; Åkerlund, Mikael M; Wod, Mette M; Fritsche, Lars G LG; Vestergaard, Henrik H; Snyder, James J; Højlund, Kurt K; Linneberg, Allan A; Käräjämäki, Annemari A; Brandslund, Ivan I; Kim, Cecilia E CE; Witte, Daniel D; Sørgjerd, Elin Pettersen EP; Brillon, David J DJ; Pedersen, Oluf O; Beck-Nielsen, Henning H; Grarup, Niels N; Pratley, Richard E RE; Rickels, Michael R MR; Vella, Adrian A; Ovalle, Fernando F; Melander, Olle O; Harris, Ronald I RI; Varvel, Stephen S; Grill, Valdemar E R VER; , ; Hakonarson, Hakon H; Froguel, Philippe P; Lonsdale, John T JT; Mauricio, Didac D; Schloot, Nanette C NC; Khunti, Kamlesh K; Greenbaum, Carla J CJ; Åsvold, Bjørn Olav BO; Yderstræde, Knud B KB; Pearson, Ewan R ER; Schwartz, Stanley S; Voight, Benjamin F BF; Hansen, Torben T; Tuomi, Tiinamaija T; Boehm, Bernhard O BO; Groop, Leif L; Leslie, R David RD; Grant, Struan F A SFA
Genetic Risk Score Modelling for Disease Progression in New-Onset Type 1 Diabetes Patients: Increased Genetic Load of Islet-Expressed and Cytokine-Regulated Candidate Genes Predicts Poorer Glycemic Control.
Journal Of Diabetes Research
Brorsson, Caroline A CA; Nielsen, Lotte B LB; Andersen, Marie Louise ML; Kaur, Simranjeet S; Bergholdt, Regine R; Hansen, Lars L; Mortensen, Henrik B HB; Pociot, Flemming F; Størling, Joachim J; ,
Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.
Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08
Variant appearance in text: PRKCQ: R616R; rs11258747
Role of Type 1 Diabetes-Associated SNPs on Risk of Autoantibody Positivity in the TEDDY Study.
Diabetes
Törn, Carina C; Hadley, David D; Lee, Hye-Seung HS; Hagopian, William W; Lernmark, Åke Å; Simell, Olli O; Rewers, Marian M; Ziegler, Anette A; Schatz, Desmond D; Akolkar, Beena B; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Toppari, Jorma J; Mykkänen, Juha J; Ilonen, Jorma J; Rich, Stephen S SS; She, Jin-Xiong JX; Steck, Andrea K AK; Krischer, Jeffrey J; ,
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: PRKCQ: R616R; rs11258747
Complex multi-block analysis identifies new immunologic and genetic disease progression patterns associated with the residual β-cell function 1 year after diagnosis of type 1 diabetes.
Plos One
Andersen, Marie Louise Max ML; Rasmussen, Morten Arendt MA; Pörksen, Sven S; Svensson, Jannet J; Vikre-Jørgensen, Jennifer J; Thomsen, Jane J; Hertel, Niels Thomas NT; Johannesen, Jesper J; Pociot, Flemming F; Petersen, Jacob Sten JS; Hansen, Lars L; Mortensen, Henrik Bindesbøl HB; Nielsen, Lotte Brøndum LB
A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.
Plos Genetics
Bradfield, Jonathan P JP; Qu, Hui-Qi HQ; Wang, Kai K; Zhang, Haitao H; Sleiman, Patrick M PM; Kim, Cecilia E CE; Mentch, Frank D FD; Qiu, Haijun H; Glessner, Joseph T JT; Thomas, Kelly A KA; Frackelton, Edward C EC; Chiavacci, Rosetta M RM; Imielinski, Marcin M; Monos, Dimitri S DS; Pandey, Rahul R; Bakay, Marina M; Grant, Struan F A SF; Polychronakos, Constantin C; Hakonarson, Hakon H
Pervasive sharing of genetic effects in autoimmune disease.
Plos Genetics
Cotsapas, Chris C; Voight, Benjamin F BF; Rossin, Elizabeth E; Lage, Kasper K; Neale, Benjamin M BM; Wallace, Chris C; Abecasis, Gonçalo R GR; Barrett, Jeffrey C JC; Behrens, Timothy T; Cho, Judy J; De Jager, Philip L PL; Elder, James T JT; Graham, Robert R RR; Gregersen, Peter P; Klareskog, Lars L; Siminovitch, Katherine A KA; van Heel, David A DA; Wijmenga, Cisca C; Worthington, Jane J; Todd, John A JA; Hafler, David A DA; Rich, Stephen S SS; Daly, Mark J MJ; ,
Pociot, Flemming F; Akolkar, Beena B; Concannon, Patrick P; Erlich, Henry A HA; Julier, Cécile C; Morahan, Grant G; Nierras, Concepcion R CR; Todd, John A JA; Rich, Stephen S SS; Nerup, Jørn J
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
Nature Genetics
Barrett, Jeffrey C JC; Clayton, David G DG; Concannon, Patrick P; Akolkar, Beena B; Cooper, Jason D JD; Erlich, Henry A HA; Julier, Cécile C; Morahan, Grant G; Nerup, Jørn J; Nierras, Concepcion C; Plagnol, Vincent V; Pociot, Flemming F; Schuilenburg, Helen H; Smyth, Deborah J DJ; Stevens, Helen H; Todd, John A JA; Walker, Neil M NM; Rich, Stephen S SS; ,