Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A
Publication Date: 2022-08-15
Variant appearance in text: TPCN2: V219I; rs72928978
A large Canadian cohort provides insights into the genetic architecture of human hair colour.
Communications Biology
Lona-Durazo, Frida F; Mendes, Marla M; Thakur, Rohit R; Funderburk, Karen K; Zhang, Tongwu T; Kovacs, Michael A MA; Choi, Jiyeon J; Brown, Kevin M KM; Parra, Esteban J EJ
Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.
Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Publication Date: 2021-05-29
Variant appearance in text: TPCN2: 655G>A; Val219Ile; rs72928978
Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color.
Science Advances
Simcoe, Mark M; Valdes, Ana A; Liu, Fan F; Furlotte, Nicholas A NA; Evans, David M DM; Hemani, Gibran G; Ring, Susan M SM; Smith, George Davey GD; Duffy, David L DL; Zhu, Gu G; Gordon, Scott D SD; Medland, Sarah E SE; Vuckovic, Dragana D; Girotto, Giorgia G; Sala, Cinzia C; Catamo, Eulalia E; Concas, Maria Pina MP; Brumat, Marco M; Gasparini, Paolo P; Toniolo, Daniela D; Cocca, Massimiliano M; Robino, Antonietta A; Yazar, Seyhan S; Hewitt, Alex A; Wu, Wenting W; Kraft, Peter P; Hammond, Christopher J CJ; Shi, Yuan Y; Chen, Yan Y; Zeng, Changqing C; Klaver, Caroline C W CCW; Uitterlinden, Andre G AG; Ikram, M Arfan MA; Hamer, Merel A MA; van Duijn, Cornelia M CM; Nijsten, Tamar T; Han, Jiali J; Mackey, David A DA; Martin, Nicholas G NG; Cheng, Ching-Yu CY; , ; , ; Hinds, David A DA; Spector, Timothy D TD; Kayser, Manfred M; Hysi, Pirro G PG
Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color.
Science Advances
Simcoe, Mark M; Valdes, Ana A; Liu, Fan F; Furlotte, Nicholas A NA; Evans, David M DM; Hemani, Gibran G; Ring, Susan M SM; Smith, George Davey GD; Duffy, David L DL; Zhu, Gu G; Gordon, Scott D SD; Medland, Sarah E SE; Vuckovic, Dragana D; Girotto, Giorgia G; Sala, Cinzia C; Catamo, Eulalia E; Concas, Maria Pina MP; Brumat, Marco M; Gasparini, Paolo P; Toniolo, Daniela D; Cocca, Massimiliano M; Robino, Antonietta A; Yazar, Seyhan S; Hewitt, Alex A; Wu, Wenting W; Kraft, Peter P; Hammond, Christopher J CJ; Shi, Yuan Y; Chen, Yan Y; Zeng, Changqing C; Klaver, Caroline C W CCW; Uitterlinden, Andre G AG; Ikram, M Arfan MA; Hamer, Merel A MA; van Duijn, Cornelia M CM; Nijsten, Tamar T; Han, Jiali J; Mackey, David A DA; Martin, Nicholas G NG; Cheng, Ching-Yu CY; , ; , ; Hinds, David A DA; Spector, Timothy D TD; Kayser, Manfred M; Hysi, Pirro G PG
Human genome diversity data reveal that L564P is the predominant TPC2 variant and a prerequisite for the blond hair associated M484L gain-of-function effect.
Plos Genetics
Böck, Julia J; Krogsaeter, Einar E; Passon, Marcel M; Chao, Yu-Kai YK; Sharma, Sapna S; Grallert, Harald H; Peters, Annette A; Grimm, Christian C
Publication Date: 2021-01
Variant appearance in text: TPC2: V219I; rs72928978
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: TPCN2: V219I; rs72928978
Laser capture microdissection of human pancreatic islets reveals novel eQTLs associated with type 2 diabetes.
Molecular Metabolism
Khamis, Amna A; Canouil, Mickaël M; Siddiq, Afshan A; Crouch, Hutokshi H; Falchi, Mario M; Bulow, Manon von MV; Ehehalt, Florian F; Marselli, Lorella L; Distler, Marius M; Richter, Daniela D; Weitz, Jürgen J; Bokvist, Krister K; Xenarios, Ioannis I; Thorens, Bernard B; Schulte, Anke M AM; Ibberson, Mark M; Bonnefond, Amelie A; Marchetti, Piero P; Solimena, Michele M; Froguel, Philippe P
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: TPCN2: V219I; rs72928978
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
Publication Date: 2018-04
Variant appearance in text: TPCN2: Val219Ile; rs72928978
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: TPCN2: V219I; rs72928978
NCI-60 whole exome sequencing and pharmacological CellMiner analyses.
Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014
Variant appearance in text: TPCN2: V219I; rs72928978