Genetically proxied impaired GIPR signaling and risk of 6 cancers.
Iscience
Rogers, Miranda M; Gill, Dipender D; Ahlqvist, Emma E; Robinson, Tim T; Mariosa, Daniela D; Johansson, Mattias M; Cortez Cardoso Penha, Ricardo R; Dossus, Laure L; Gunter, Marc J MJ; Moreno, Victor V; Davey Smith, George G; Martin, Richard M RM; Yarmolinsky, James J
Publication Date: 2023-06-16
Variant appearance in text: GIPR: E354Q; rs1800437
Acute pharmacodynamic responses to exenatide: Drug-induced increases in insulin secretion and glucose effectiveness.
Medrxiv : The Preprint Server For Health Sciences
Taylor, Simeon I SI; Montasser, May E ME; Yuen, Ashley H AH; Fan, Hubert H; Shahidzadeh Yazdi, Zhinous Z; Whitlatch, Hilary B HB; Mitchell, Braxton D BD; Shuldiner, Alan R AR; Muniyappa, Ranganath R; Streeten, Elizabeth A EA; Beitelshees, Amber L AL
Publication Date: 2023-03-17
Variant appearance in text: GIPR: E354Q; rs1800437
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
Molecular and in vivo phenotyping of missense variants of the human glucagon receptor.
The Journal Of Biological Chemistry
van der Velden, Wijnand J C WJC; Lindquist, Peter P; Madsen, Jakob S JS; Stassen, Roderick H M J RHMJ; Wewer Albrechtsen, Nicolai J NJ; Holst, Jens J JJ; Hauser, Alexander S AS; Rosenkilde, Mette M MM
Molecular and in vivo phenotyping of missense variants of the human glucagon receptor.
The Journal Of Biological Chemistry
van der Velden, Wijnand J C WJC; Lindquist, Peter P; Madsen, Jakob S JS; Stassen, Roderick H M J RHMJ; Wewer Albrechtsen, Nicolai J NJ; Holst, Jens J JJ; Hauser, Alexander S AS; Rosenkilde, Mette M MM
Loss of Function Glucose-Dependent Insulinotropic Polypeptide Receptor Variants Are Associated With Alterations in BMI, Bone Strength and Cardiovascular Outcomes.
Frontiers In Cell And Developmental Biology
Kizilkaya, Hüsün Sheyma HS; Sørensen, Kimmie Vestergaard KV; Kibsgaard, Camilla J CJ; Gasbjerg, Laerke Smidt LS; Hauser, Alexander S AS; Sparre-Ulrich, Alexander Hovard AH; Grarup, Niels N; Rosenkilde, Mette M MM
Publication Date: 2021
Variant appearance in text: GIPR: E354Q; rs1800437
Leveraging human genetic data to investigate the cardiometabolic effects of glucose-dependent insulinotropic polypeptide signalling.
Diabetologia
Karhunen, Ville V; Daghlas, Iyas I; Zuber, Verena V; Vujkovic, Marijana M; Olsen, Anette K AK; Knudsen, Lotte Bjerre LB; Haynes, William G WG; Howson, Joanna M M JMM; Gill, Dipender D
Leveraging human genetic data to investigate the cardiometabolic effects of glucose-dependent insulinotropic polypeptide signalling.
Diabetologia
Karhunen, Ville V; Daghlas, Iyas I; Zuber, Verena V; Vujkovic, Marijana M; Olsen, Anette K AK; Knudsen, Lotte Bjerre LB; Haynes, William G WG; Howson, Joanna M M JMM; Gill, Dipender D
Genetically Predicted Glucose-Dependent Insulinotropic Polypeptide (GIP) Levels and Cardiovascular Disease Risk Are Driven by Distinct Causal Variants in the GIPR Region.
Diabetes
Bowker, Nicholas N; Hansford, Robert R; Burgess, Stephen S; Foley, Christopher N CN; Auyeung, Victoria P W VPW; Erzurumluoglu, A Mesut AM; Stewart, Isobel D ID; Wheeler, Eleanor E; Pietzner, Maik M; Gribble, Fiona F; Reimann, Frank F; Bhatnagar, Pallav P; Coghlan, Matthew P MP; Wareham, Nicholas J NJ; Langenberg, Claudia C
Publication Date: 2021-11
Variant appearance in text: GIPR: 1060G>C; E354Q; rs1800437
Genetically Predicted Glucose-Dependent Insulinotropic Polypeptide (GIP) Levels and Cardiovascular Disease Risk Are Driven by Distinct Causal Variants in the GIPR Region.
Diabetes
Bowker, Nicholas N; Hansford, Robert R; Burgess, Stephen S; Foley, Christopher N CN; Auyeung, Victoria P W VPW; Erzurumluoglu, A Mesut AM; Stewart, Isobel D ID; Wheeler, Eleanor E; Pietzner, Maik M; Gribble, Fiona F; Reimann, Frank F; Bhatnagar, Pallav P; Coghlan, Matthew P MP; Wareham, Nicholas J NJ; Langenberg, Claudia C
Publication Date: 2021-11
Variant appearance in text: GIPR: 1060G>C; E354Q; rs1800437
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021
Variant appearance in text: GIPR: 1060G>C; E354Q; rs1800437
Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.
Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Glucose-dependent insulinotropic peptide and risk of cardiovascular events and mortality: a prospective study.
Diabetologia
Jujić, Amra A; Atabaki-Pasdar, Naeimeh N; Nilsson, Peter M PM; Almgren, Peter P; Hakaste, Liisa L; Tuomi, Tiinamaija T; Berglund, Lisa M LM; Franks, Paul W PW; Holst, Jens J JJ; Prasad, Rashmi B RB; Torekov, Signe S SS; Ravassa, Susana S; Díez, Javier J; Persson, Margaretha M; Melander, Olle O; Gomez, Maria F MF; Groop, Leif L; Ahlqvist, Emma E; Magnusson, Martin M
Molecular mechanism of an antagonistic antibody against glucose-dependent insulinotropic polypeptide receptor.
Mabs
Min, Xiaoshan X; Yie, Junming J; Wang, Jinghong J; Chung, Ben C BC; Huang, Ching-Shin CS; Xu, Haoda H; Yang, Jie J; Deng, Liying L; Lin, Joanne J; Chen, Qing Q; Abbott, Christina M CM; Gundel, Caroline C; Thibault, Stephen A SA; Meng, Tina T; Bates, Darren L DL; Lloyd, David J DJ; Véniant, Murielle M MM; Wang, Zhulun Z
Suzuki, Hiromichi H; Kumar, Sachin A SA; Shuai, Shimin S; Diaz-Navarro, Ander A; Gutierrez-Fernandez, Ana A; De Antonellis, Pasqualino P; Cavalli, Florence M G FMG; Juraschka, Kyle K; Farooq, Hamza H; Shibahara, Ichiyo I; Vladoiu, Maria C MC; Zhang, Jiao J; Abeysundara, Namal N; Przelicki, David D; Skowron, Patryk P; Gauer, Nicole N; Luu, Betty B; Daniels, Craig C; Wu, Xiaochong X; Forget, Antoine A; Momin, Ali A; Wang, Jun J; Dong, Weifan W; Kim, Seung-Ki SK; Grajkowska, Wieslawa A WA; Jouvet, Anne A; Fèvre-Montange, Michelle M; Garrè, Maria Luisa ML; Nageswara Rao, Amulya A AA; Giannini, Caterina C; Kros, Johan M JM; French, Pim J PJ; Jabado, Nada N; Ng, Ho-Keung HK; Poon, Wai Sang WS; Eberhart, Charles G CG; Pollack, Ian F IF; Olson, James M JM; Weiss, William A WA; Kumabe, Toshihiro T; López-Aguilar, Enrique E; Lach, Boleslaw B; Massimino, Maura M; Van Meir, Erwin G EG; Rubin, Joshua B JB; Vibhakar, Rajeev R; Chambless, Lola B LB; Kijima, Noriyuki N; Klekner, Almos A; Bognár, László L; Chan, Jennifer A JA; Faria, Claudia C CC; Ragoussis, Jiannis J; Pfister, Stefan M SM; Goldenberg, Anna A; Wechsler-Reya, Robert J RJ; Bailey, Swneke D SD; Garzia, Livia L; Morrissy, A Sorana AS; Marra, Marco A MA; Huang, Xi X; Malkin, David D; Ayrault, Olivier O; Ramaswamy, Vijay V; Puente, Xose S XS; Calarco, John A JA; Stein, Lincoln L; Taylor, Michael D MD
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: GIPR: E354Q; rs1800437
Genotype-by-environment interactions inferred from genetic effects on phenotypic variability in the UK Biobank.
Science Advances
Wang, Huanwei H; Zhang, Futao F; Zeng, Jian J; Wu, Yang Y; Kemper, Kathryn E KE; Xue, Angli A; Zhang, Min M; Powell, Joseph E JE; Goddard, Michael E ME; Wray, Naomi R NR; Visscher, Peter M PM; McRae, Allan F AF; Yang, Jian J
Enhanced agonist residence time, internalization rate and signalling of the GIP receptor variant [E354Q] facilitate receptor desensitization and long-term impairment of the GIP system.
Basic & Clinical Pharmacology & Toxicology
Gabe, Maria Buur Nordskov MBN; van der Velden, Wijnand J C WJC; Gadgaard, Sarina S; Smit, Florent Xavier FX; Hartmann, Bolette B; Bräuner-Osborne, Hans H; Rosenkilde, Mette Marie MM
MCF-7 as a Model for Functional Analysis of Breast Cancer Risk Variants.
Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Booms, Alix A; Coetzee, Gerhard A GA; Pierce, Steven E SE
A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.
Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20
Variant appearance in text: GIPR: E354Q; rs1800437
Gene x Gene Interactions Highlight the Role of Incretin Resistance for Insulin Secretion.
Frontiers In Endocrinology
Jaghutriz, Benjamin Assad BA; Heni, Martin M; Lutz, Stefan Zoltán SZ; Fritsche, Louise L; Machicao, Fausto F; Staiger, Harald H; Peter, Andreas A; Häring, Hans-Ulrich HU; Fritsche, Andreas A; Wagner, Róbert R
Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.
Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27
Variant appearance in text: GIPR: 1060G>C; Glu354Gln; rs1800437
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Scientific Reports
Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN
Publication Date: 2018-11-02
Variant appearance in text: GIPR: E354Q; rs1800437
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.
Genetic Variability of the Glucose-Dependent Insulinotropic Peptide Gene Is Involved in the Premature Coronary Artery Disease in a Chinese Population with Type 2 Diabetes.
Journal Of Diabetes Research
Ma, Xiaowei X; Huang, Jia J; Lu, Difei D; Gu, Nan N; Lu, Ran R; Zhang, Jianwei J; Zhang, Hong H; Li, Jianping J; Zhang, Junqing J; Guo, Xiaohui X
Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.
Nature Genetics
Mahajan, Anubha A; Wessel, Jennifer J; Willems, Sara M SM; Zhao, Wei W; Robertson, Neil R NR; Chu, Audrey Y AY; Gan, Wei W; Kitajima, Hidetoshi H; Taliun, Daniel D; Rayner, N William NW; Guo, Xiuqing X; Lu, Yingchang Y; Li, Man M; Jensen, Richard A RA; Hu, Yao Y; Huo, Shaofeng S; Lohman, Kurt K KK; Zhang, Weihua W; Cook, James P JP; Prins, Bram Peter BP; Flannick, Jason J; Grarup, Niels N; Trubetskoy, Vassily Vladimirovich VV; Kravic, Jasmina J; Kim, Young Jin YJ; Rybin, Denis V DV; Yaghootkar, Hanieh H; Müller-Nurasyid, Martina M; Meidtner, Karina K; Li-Gao, Ruifang R; Varga, Tibor V TV; Marten, Jonathan J; Li, Jin J; Smith, Albert Vernon AV; An, Ping P; Ligthart, Symen S; Gustafsson, Stefan S; Malerba, Giovanni G; Demirkan, Ayse A; Tajes, Juan Fernandez JF; Steinthorsdottir, Valgerdur V; Wuttke, Matthias M; Lecoeur, Cécile C; Preuss, Michael M; Bielak, Lawrence F LF; Graff, Marielisa M; Highland, Heather M HM; Justice, Anne E AE; Liu, Dajiang J DJ; Marouli, Eirini E; Peloso, Gina Marie GM; Warren, Helen R HR; , ; , ; , ; Afaq, Saima S; Afzal, Shoaib S; Ahlqvist, Emma E; Almgren, Peter P; Amin, Najaf N; Bang, Lia B LB; Bertoni, Alain G AG; Bombieri, Cristina C; Bork-Jensen, Jette J; Brandslund, Ivan I; Brody, Jennifer A JA; Burtt, Noël P NP; Canouil, Mickaël M; Chen, Yii-Der Ida YI; Cho, Yoon Shin YS; Christensen, Cramer C; Eastwood, Sophie V SV; Eckardt, Kai-Uwe KU; Fischer, Krista K; Gambaro, Giovanni G; Giedraitis, Vilmantas V; Grove, Megan L ML; de Haan, Hugoline G HG; Hackinger, Sophie S; Hai, Yang Y; Han, Sohee S; Tybjærg-Hansen, Anne A; Hivert, Marie-France MF; Isomaa, Bo B; Jäger, Susanne S; Jørgensen, Marit E ME; Jørgensen, Torben T; Käräjämäki, Annemari A; Kim, Bong-Jo BJ; Kim, Sung Soo SS; Koistinen, Heikki A HA; Kovacs, Peter P; Kriebel, Jennifer J; Kronenberg, Florian F; Läll, Kristi K; Lange, Leslie A LA; Lee, Jung-Jin JJ; Lehne, Benjamin B; Li, Huaixing H; Lin, Keng-Hung KH; Linneberg, Allan A; Liu, Ching-Ti CT; Liu, Jun J; Loh, Marie M; Mägi, Reedik R; Mamakou, Vasiliki V; McKean-Cowdin, Roberta R; Nadkarni, Girish G; Neville, Matt M; Nielsen, Sune F SF; Ntalla, Ioanna I; Peyser, Patricia A PA; Rathmann, Wolfgang W; Rice, Kenneth K; Rich, Stephen S SS; Rode, Line L; Rolandsson, Olov O; Schönherr, Sebastian S; Selvin, Elizabeth E; Small, Kerrin S KS; Stančáková, Alena A; Surendran, Praveen P; Taylor, Kent D KD; Teslovich, Tanya M TM; Thorand, Barbara B; Thorleifsson, Gudmar G; Tin, Adrienne A; Tönjes, Anke A; Varbo, Anette A; Witte, Daniel R DR; Wood, Andrew R AR; Yajnik, Pranav P; Yao, Jie J; Yengo, Loïc L; Young, Robin R; Amouyel, Philippe P; Boeing, Heiner H; Boerwinkle, Eric E; Bottinger, Erwin P EP; Chowdhury, Rajiv R; Collins, Francis S FS; Dedoussis, George G; Dehghan, Abbas A; Deloukas, Panos P; Ferrario, Marco M MM; Ferrières, Jean J; Florez, Jose C JC; Frossard, Philippe P; Gudnason, Vilmundur V; Harris, Tamara B TB; Heckbert, Susan R SR; Howson, Joanna M M JMM; Ingelsson, Martin M; Kathiresan, Sekar S; Kee, Frank F; Kuusisto, Johanna J; Langenberg, Claudia C; Launer, Lenore J LJ; Lindgren, Cecilia M CM; Männistö, Satu S; Meitinger, Thomas T; Melander, Olle O; Mohlke, Karen L KL; Moitry, Marie M; Morris, Andrew D AD; Murray, Alison D AD; de Mutsert, Renée R; Orho-Melander, Marju M; Owen, Katharine R KR; Perola, Markus M; Peters, Annette A; Province, Michael A MA; Rasheed, Asif A; Ridker, Paul M PM; Rivadineira, Fernando F; Rosendaal, Frits R FR; Rosengren, Anders H AH; Salomaa, Veikko V; Sheu, Wayne H-H WH; Sladek, Rob R; Smith, Blair H BH; Strauch, Konstantin K; Uitterlinden, André G AG; Varma, Rohit R; Willer, Cristen J CJ; Blüher, Matthias M; Butterworth, Adam S AS; Chambers, John Campbell JC; Chasman, Daniel I DI; Danesh, John J; van Duijn, Cornelia C; Dupuis, Josée J; Franco, Oscar H OH; Franks, Paul W PW; Froguel, Philippe P; Grallert, Harald H; Groop, Leif L; Han, Bok-Ghee BG; Hansen, Torben T; Hattersley, Andrew T AT; Hayward, Caroline C; Ingelsson, Erik E; Kardia, Sharon L R SLR; Karpe, Fredrik F; Kooner, Jaspal Singh JS; Köttgen, Anna A; Kuulasmaa, Kari K; Laakso, Markku M; Lin, Xu X; Lind, Lars L; Liu, Yongmei Y; Loos, Ruth J F RJF; Marchini, Jonathan J; Metspalu, Andres A; Mook-Kanamori, Dennis D; Nordestgaard, Børge G BG; Palmer, Colin N A CNA; Pankow, James S JS; Pedersen, Oluf O; Psaty, Bruce M BM; Rauramaa, Rainer R; Sattar, Naveed N; Schulze, Matthias B MB; Soranzo, Nicole N; Spector, Timothy D TD; Stefansson, Kari K; Stumvoll, Michael M; Thorsteinsdottir, Unnur U; Tuomi, Tiinamaija T; Tuomilehto, Jaakko J; Wareham, Nicholas J NJ; Wilson, James G JG; Zeggini, Eleftheria E; Scott, Robert A RA; Barroso, Inês I; Frayling, Timothy M TM; Goodarzi, Mark O MO; Meigs, James B JB; Boehnke, Michael M; Saleheen, Danish D; Morris, Andrew P AP; Rotter, Jerome I JI; McCarthy, Mark I MI