Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.
Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
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
Blood pressure lowering and risk of new-onset type 2 diabetes: an individual participant data meta-analysis.
Lancet (London, England)
Nazarzadeh, Milad M; Bidel, Zeinab Z; Canoy, Dexter D; Copland, Emma E; Wamil, Malgorzata M; Majert, Jeannette J; Smith Byrne, Karl K; Sundström, Johan J; Teo, Koon K; Davis, Barry R BR; Chalmers, John J; Pepine, Carl J CJ; Dehghan, Abbas A; Bennett, Derrick A DA; Smith, George Davey GD; Rahimi, Kazem K; ,
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: SIPA1: 545C>T; S182F; rs3741378
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: SIPA1: S182F; rs3741378
A genome-wide association and replication study of blood pressure in Ugandan early adolescents.
Molecular Genetics & Genomic Medicine
Lule, Swaib A SA; Mentzer, Alexander J AJ; Namara, Benigna B; Muwenzi, Allan G AG; Nassanga, Beatrice B; Kizito, Dennison D; Akurut, Helen H; Lubyayi, Lawrence L; Tumusiime, Josephine J; Zziwa, Christopher C; Akello, Florence F; Gurdasani, Deept D; Sandhu, Manjinder M; Smeeth, Liam L; Elliott, Alison M AM; Webb, Emily L EL
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: SIPA1: S182F; rs3741378
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: SIPA1: 545C>T; Ser182Phe; rs3741378
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
The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.
Nature Communications
Inman, Gareth J GJ; Wang, Jun J; Nagano, Ai A; Alexandrov, Ludmil B LB; Purdie, Karin J KJ; Taylor, Richard G RG; Sherwood, Victoria V; Thomson, Jason J; Hogan, Sarah S; Spender, Lindsay C LC; South, Andrew P AP; Stratton, Michael M; Chelala, Claude C; Harwood, Catherine A CA; Proby, Charlotte M CM; Leigh, Irene M IM
Identification of 613 new loci associated with heel bone mineral density and a polygenic risk score for bone mineral density, osteoporosis and fracture.
Plos One
Kim, Stuart K SK
Publication Date: 2018
Variant appearance in text: SIPA1: S182F; rs3741378
Towards Precision Medicine for Hypertension: A Review of Genomic, Epigenomic, and Microbiomic Effects on Blood Pressure in Experimental Rat Models and Humans.
Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.
Hypertension (Dallas, Tex. : 1979)
Wain, Louise V LV; Vaez, Ahmad A; Jansen, Rick R; Joehanes, Roby R; van der Most, Peter J PJ; Erzurumluoglu, A Mesut AM; O'Reilly, Paul F PF; Cabrera, Claudia P CP; Warren, Helen R HR; Rose, Lynda M LM; Verwoert, Germaine C GC; Hottenga, Jouke-Jan JJ; Strawbridge, Rona J RJ; Esko, Tonu T; Arking, Dan E DE; Hwang, Shih-Jen SJ; Guo, Xiuqing X; Kutalik, Zoltan Z; Trompet, Stella S; Shrine, Nick N; Teumer, Alexander A; Ried, Janina S JS; Bis, Joshua C JC; Smith, Albert V AV; Amin, Najaf N; Nolte, Ilja M IM; Lyytikäinen, Leo-Pekka LP; Mahajan, Anubha A; Wareham, Nicholas J NJ; Hofer, Edith E; Joshi, Peter K PK; Kristiansson, Kati K; Traglia, Michela M; Havulinna, Aki S AS; Goel, Anuj A; Nalls, Mike A MA; Sõber, Siim S; Vuckovic, Dragana D; Luan, Jian'an J; Del Greco M, Fabiola F; Ayers, Kristin L KL; Marrugat, Jaume J; Ruggiero, Daniela D; Lopez, Lorna M LM; Niiranen, Teemu T; Enroth, Stefan S; Jackson, Anne U AU; Nelson, Christopher P CP; Huffman, Jennifer E JE; Zhang, Weihua W; Marten, Jonathan J; Gandin, Ilaria I; Harris, Sarah E SE; Zemunik, Tatijana T; Lu, Yingchang Y; Evangelou, Evangelos E; Shah, Nabi N; de Borst, Martin H MH; Mangino, Massimo M; Prins, Bram P BP; Campbell, Archie A; Li-Gao, Ruifang R; Chauhan, Ganesh G; Oldmeadow, Christopher C; Abecasis, Gonçalo G; Abedi, Maryam M; Barbieri, Caterina M CM; Barnes, Michael R MR; Batini, Chiara C; Beilby, John J; Blake, Tineka T; Boehnke, Michael M; Bottinger, Erwin P EP; Braund, Peter S PS; Brown, Morris M; Brumat, Marco M; Campbell, Harry H; Chambers, John C JC; Cocca, Massimiliano M; Collins, Francis F; Connell, John J; Cordell, Heather J HJ; Damman, Jeffrey J JJ; Davies, Gail G; de Geus, Eco J EJ; de Mutsert, Renée R; Deelen, Joris J; Demirkale, Yusuf Y; Doney, Alex S F ASF; Dörr, Marcus M; Farrall, Martin M; Ferreira, Teresa T; Frånberg, Mattias M; Gao, He H; Giedraitis, Vilmantas V; Gieger, Christian C; Giulianini, Franco F; Gow, Alan J AJ; Hamsten, Anders A; Harris, Tamara B TB; Hofman, Albert A; Holliday, Elizabeth G EG; Hui, Jennie J; Jarvelin, Marjo-Riitta MR; Johansson, Åsa Å; Johnson, Andrew D AD; Jousilahti, Pekka P; Jula, Antti A; Kähönen, Mika M; Kathiresan, Sekar S; Khaw, Kay-Tee KT; Kolcic, Ivana I; Koskinen, Seppo S; Langenberg, Claudia C; Larson, Marty M; Launer, Lenore J LJ; Lehne, Benjamin B; Liewald, David C M DCM; Lin, Li L; Lind, Lars L; Mach, François F; Mamasoula, Chrysovalanto C; Menni, Cristina C; Mifsud, Borbala B; Milaneschi, Yuri Y; Morgan, Anna A; Morris, Andrew D AD; Morrison, Alanna C AC; Munson, Peter J PJ; Nandakumar, Priyanka P; Nguyen, Quang Tri QT; Nutile, Teresa T; Oldehinkel, Albertine J AJ; Oostra, Ben A BA; Org, Elin E; Padmanabhan, Sandosh S; Palotie, Aarno A; Paré, Guillaume G; Pattie, Alison A; Penninx, Brenda W J H BWJH; Poulter, Neil N; Pramstaller, Peter P PP; Raitakari, Olli T OT; Ren, Meixia M; Rice, Kenneth K; Ridker, Paul M PM; Riese, Harriëtte H; Ripatti, Samuli S; Robino, Antonietta A; Rotter, Jerome I JI; Rudan, Igor I; Saba, Yasaman Y; Saint Pierre, Aude A; Sala, Cinzia F CF; Sarin, Antti-Pekka AP; Schmidt, Reinhold R; Scott, Rodney R; Seelen, Marc A MA; Shields, Denis C DC; Siscovick, David D; Sorice, Rossella R; Stanton, Alice A; Stott, David J DJ; Sundström, Johan J; Swertz, Morris M; Taylor, Kent D KD; Thom, Simon S; Tzoulaki, Ioanna I; Tzourio, Christophe C; Uitterlinden, André G AG; Völker, Uwe U; Vollenweider, Peter P; Wild, Sarah S; Willemsen, Gonneke G; Wright, Alan F AF; Yao, Jie J; Thériault, Sébastien S; Conen, David D; Attia, John J; Sever, Peter P; Debette, Stéphanie S; Mook-Kanamori, Dennis O DO; Zeggini, Eleftheria E; Spector, Tim D TD; van der Harst, Pim P; Palmer, Colin N A CNA; Vergnaud, Anne-Claire AC; Loos, Ruth J F RJF; Polasek, Ozren O; Starr, John M JM; Girotto, Giorgia G; Hayward, Caroline C; Kooner, Jaspal S JS; Lindgren, Cecila M CM; Vitart, Veronique V; Samani, Nilesh J NJ; Tuomilehto, Jaakko J; Gyllensten, Ulf U; Knekt, Paul P; Deary, Ian J IJ; Ciullo, Marina M; Elosua, Roberto R; Keavney, Bernard D BD; Hicks, Andrew A AA; Scott, Robert A RA; Gasparini, Paolo P; Laan, Maris M; Liu, YongMei Y; Watkins, Hugh H; Hartman, Catharina A CA; Salomaa, Veikko V; Toniolo, Daniela D; Perola, Markus M; Wilson, James F JF; Schmidt, Helena H; Zhao, Jing Hua JH; Lehtimäki, Terho T; van Duijn, Cornelia M CM; Gudnason, Vilmundur V; Psaty, Bruce M BM; Peters, Annette A; Rettig, Rainer R; James, Alan A; Jukema, J Wouter JW; Strachan, David P DP; Palmas, Walter W; Metspalu, Andres A; Ingelsson, Erik E; Boomsma, Dorret I DI; Franco, Oscar H OH; Bochud, Murielle M; Newton-Cheh, Christopher C; Munroe, Patricia B PB; Elliott, Paul P; Chasman, Daniel I DI; Chakravarti, Aravinda A; Knight, Joanne J; Morris, Andrew P AP; Levy, Daniel D; Tobin, Martin D MD; Snieder, Harold H; Caulfield, Mark J MJ; Ehret, Georg B GB
The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.
Nature Genetics
Ehret, Georg B GB; Ferreira, Teresa T; Chasman, Daniel I DI; Jackson, Anne U AU; Schmidt, Ellen M EM; Johnson, Toby T; Thorleifsson, Gudmar G; Luan, Jian'an J; Donnelly, Lousie A LA; Kanoni, Stavroula S; Petersen, Ann-Kristin AK; Pihur, Vasyl V; Strawbridge, Rona J RJ; Shungin, Dmitry D; Hughes, Maria F MF; Meirelles, Osorio O; Kaakinen, Marika M; Bouatia-Naji, Nabila N; Kristiansson, Kati K; Shah, Sonia S; Kleber, Marcus E ME; Guo, Xiuqing X; Lyytikäinen, Leo-Pekka LP; Fava, Cristiano C; Eriksson, Niclas N; Nolte, Ilja M IM; Magnusson, Patrik K PK; Salfati, Elias L EL; Rallidis, Loukianos S LS; Theusch, Elizabeth E; Smith, Andrew J P AJP; Folkersen, Lasse L; Witkowska, Kate K; Pers, Tune H TH; Joehanes, Roby R; Kim, Stuart K SK; Lataniotis, Lazaros L; Jansen, Rick R; Johnson, Andrew D AD; Warren, Helen H; Kim, Young Jin YJ; Zhao, Wei W; Wu, Ying Y; Tayo, Bamidele O BO; Bochud, Murielle M; , ; , ; , ; Absher, Devin D; Adair, Linda S LS; Amin, Najaf N; Arking, Dan E DE; Axelsson, Tomas T; Baldassarre, Damiano D; Balkau, Beverley B; Bandinelli, Stefania S; Barnes, Michael R MR; Barroso, Inês I; Bevan, Stephen S; Bis, Joshua C JC; Bjornsdottir, Gyda G; Boehnke, Michael M; Boerwinkle, Eric E; Bonnycastle, Lori L LL; Boomsma, Dorret I DI; Bornstein, Stefan R SR; Brown, Morris J MJ; Burnier, Michel M; Cabrera, Claudia P CP; Chambers, John C JC; Chang, I-Shou IS; Cheng, Ching-Yu CY; Chines, Peter S PS; Chung, Ren-Hua RH; Collins, Francis S FS; Connell, John M JM; Döring, Angela A; Dallongeville, Jean J; Danesh, John J; de Faire, Ulf U; Delgado, Graciela G; Dominiczak, Anna F AF; Doney, Alex S F ASF; Drenos, Fotios F; Edkins, Sarah S; Eicher, John D JD; Elosua, Roberto R; Enroth, Stefan S; Erdmann, Jeanette J; Eriksson, Per P; Esko, Tonu T; Evangelou, Evangelos E; Evans, Alun A; Fall, Tove T; Farrall, Martin M; Felix, Janine F JF; Ferrières, Jean J; Ferrucci, Luigi L; Fornage, Myriam M; Forrester, Terrence T; Franceschini, Nora N; Duran, Oscar H Franco OHF; Franco-Cereceda, Anders A; Fraser, Ross M RM; Ganesh, Santhi K SK; Gao, He H; Gertow, Karl K; Gianfagna, Francesco F; Gigante, Bruna B; Giulianini, Franco F; Goel, Anuj A; Goodall, Alison H AH; Goodarzi, Mark O MO; Gorski, Mathias M; Gräßler, Jürgen J; Groves, Christopher C; Gudnason, Vilmundur V; Gyllensten, Ulf U; Hallmans, Göran G; Hartikainen, Anna-Liisa AL; Hassinen, Maija M; Havulinna, Aki S AS; Hayward, Caroline C; Hercberg, Serge S; Herzig, Karl-Heinz KH; Hicks, Andrew A AA; Hingorani, Aroon D AD; Hirschhorn, Joel N JN; Hofman, Albert A; Holmen, Jostein J; Holmen, Oddgeir Lingaas OL; Hottenga, Jouke-Jan JJ; Howard, Phil P; Hsiung, Chao A CA; Hunt, Steven C SC; Ikram, M Arfan MA; Illig, Thomas T; Iribarren, Carlos C; Jensen, Richard A RA; Kähönen, Mika M; Kang, Hyun H; Kathiresan, Sekar S; Keating, Brendan J BJ; Khaw, Kay-Tee KT; Kim, Yun Kyoung YK; Kim, Eric E; Kivimaki, Mika M; Klopp, Norman N; Kolovou, Genovefa G; Komulainen, Pirjo P; Kooner, Jaspal S JS; Kosova, Gulum G; Krauss, Ronald M RM; Kuh, Diana D; Kutalik, Zoltan Z; Kuusisto, Johanna J; Kvaløy, Kirsti K; Lakka, Timo A TA; Lee, Nanette R NR; Lee, I-Te IT; Lee, Wen-Jane WJ; Levy, Daniel D; Li, Xiaohui X; Liang, Kae-Woei KW; Lin, Honghuang H; Lin, Li L; Lindström, Jaana J; Lobbens, Stéphane S; Männistö, Satu S; Müller, Gabriele G; Müller-Nurasyid, Martina M; Mach, François F; Markus, Hugh S HS; Marouli, Eirini E; McCarthy, Mark I MI; McKenzie, Colin A CA; Meneton, Pierre P; Menni, Cristina C; Metspalu, Andres A; Mijatovic, Vladan V; Moilanen, Leena L; Montasser, May E ME; Morris, Andrew D AD; Morrison, Alanna C AC; Mulas, Antonella A; Nagaraja, Ramaiah R; Narisu, Narisu N; Nikus, Kjell K; O'Donnell, Christopher J CJ; O'Reilly, Paul F PF; Ong, Ken K KK; Paccaud, Fred F; Palmer, Cameron D CD; Parsa, Afshin A; Pedersen, Nancy L NL; Penninx, Brenda W BW; Perola, Markus M; Peters, Annette A; Poulter, Neil N; Pramstaller, Peter P PP; Psaty, Bruce M BM; Quertermous, Thomas T; Rao, Dabeeru C DC; Rasheed, Asif A; Rayner, N William N W R NWNWR; Renström, Frida F; Rettig, Rainer R; Rice, Kenneth M KM; Roberts, Robert R; Rose, Lynda M LM; Rossouw, Jacques J; Samani, Nilesh J NJ; Sanna, Serena S; Saramies, Jouko J; Schunkert, Heribert H; Sebert, Sylvain S; Sheu, Wayne H-H WH; Shin, Young-Ah YA; Sim, Xueling X; Smit, Johannes H JH; Smith, Albert V AV; Sosa, Maria X MX; Spector, Tim D TD; Stančáková, Alena A; Stanton, Alice A; Stirrups, Kathleen E KE; Stringham, Heather M HM; Sundstrom, Johan J; Swift, Amy J AJ; Syvänen, Ann-Christine AC; Tai, E-Shyong ES; Tanaka, Toshiko T; Tarasov, Kirill V KV; Teumer, Alexander A; Thorsteinsdottir, Unnur U; Tobin, Martin D MD; Tremoli, Elena E; Uitterlinden, Andre G AG; Uusitupa, Matti M; Vaez, Ahmad A; Vaidya, Dhananjay D; van Duijn, Cornelia M CM; van Iperen, Erik P A EPA; Vasan, Ramachandran S RS; Verwoert, Germaine C GC; Virtamo, Jarmo J; Vitart, Veronique V; Voight, Benjamin F BF; Vollenweider, Peter P; Wagner, Aline A; Wain, Louise V LV; Wareham, Nicholas J NJ; Watkins, Hugh H; Weder, Alan B AB; Westra, Harm-Jan HJ; Wilks, Rainford R; Wilsgaard, Tom T; Wilson, James F JF; Wong, Tien Y TY; Yang, Tsun-Po TP; Yao, Jie J; Yengo, Loic L; Zhang, Weihua W; Zhao, Jing Hua JH; Zhu, Xiaofeng X; Bovet, Pascal P; Cooper, Richard S RS; Mohlke, Karen L KL; Saleheen, Danish D; Lee, Jong-Young JY; Elliott, Paul P; Gierman, Hinco J HJ; Willer, Cristen J CJ; Franke, Lude L; Hovingh, G Kees GK; Taylor, Kent D KD; Dedoussis, George G; Sever, Peter P; Wong, Andrew A; Lind, Lars L; Assimes, Themistocles L TL; Njølstad, Inger I; Schwarz, Peter Eh PE; Langenberg, Claudia C; Snieder, Harold H; Caulfield, Mark J MJ; Melander, Olle O; Laakso, Markku M; Saltevo, Juha J; Rauramaa, Rainer R; Tuomilehto, Jaakko J; Ingelsson, Erik E; Lehtimäki, Terho T; Hveem, Kristian K; Palmas, Walter W; März, Winfried W; Kumari, Meena M; Salomaa, Veikko V; Chen, Yii-Der I YI; Rotter, Jerome I JI; Froguel, Philippe P; Jarvelin, Marjo-Riitta MR; Lakatta, Edward G EG; Kuulasmaa, Kari K; Franks, Paul W PW; Hamsten, Anders A; Wichmann, H-Erich HE; Palmer, Colin N A CNA; Stefansson, Kari K; Ridker, Paul M PM; Loos, Ruth J F RJF; Chakravarti, Aravinda A; Deloukas, Panos P; Morris, Andrew P AP; Newton-Cheh, Christopher C; Munroe, Patricia B PB
Single nucleotide variants in metastasis-related genes are associated with breast cancer risk, by lymph node involvement and estrogen receptor status, in women with European and African ancestry.
Molecular Carcinogenesis
Roberts, Michelle R MR; Sucheston-Campbell, Lara E LE; Zirpoli, Gary R GR; Higgins, Michael M; Freudenheim, Jo L JL; Bandera, Elisa V EV; Ambrosone, Christine B CB; Yao, Song S
Publication Date: 2017-03
Variant appearance in text: SIPA1: Ser182Phe; rs3741378
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: SIPA1: S182F; rs3741378
Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.
Human Genomics
Karageorgos, Ioannis I; Mizzi, Clint C; Giannopoulou, Efstathia E; Pavlidis, Cristiana C; Peters, Brock A BA; Zagoriti, Zoi Z; Stenson, Peter D PD; Mitropoulos, Konstantinos K; Borg, Joseph J; Kalofonos, Haralabos P HP; Drmanac, Radoje R; Stubbs, Andrew A; van der Spek, Peter P; Cooper, David N DN; Katsila, Theodora T; Patrinos, George P GP
Publication Date: 2015-06-20
Variant appearance in text: SIPA1: 545C>T; S182F; rs3741378
Common germline polymorphisms associated with breast cancer-specific survival.
Breast Cancer Research : Bcr
Pirie, Ailith A; Guo, Qi Q; Kraft, Peter P; Canisius, Sander S; Eccles, Diana M DM; Rahman, Nazneen N; Nevanlinna, Heli H; Chen, Constance C; Khan, Sofia S; Tyrer, Jonathan J; Bolla, Manjeet K MK; Wang, Qin Q; Dennis, Joe J; Michailidou, Kyriaki K; Lush, Michael M; Dunning, Alison M AM; Shah, Mitul M; Czene, Kamila K; Darabi, Hatef H; Eriksson, Mikael M; Lambrechts, Dieter D; Weltens, Caroline C; Leunen, Karin K; van Ongeval, Chantal C; Nordestgaard, Børge G BG; Nielsen, Sune F SF; Flyger, Henrik H; Rudolph, Anja A; Seibold, Petra P; Flesch-Janys, Dieter D; Blomqvist, Carl C; Aittomäki, Kristiina K; Fagerholm, Rainer R; Muranen, Taru A TA; Olsen, Janet E JE; Hallberg, Emily E; Vachon, Celine C; Knight, Julia A JA; Glendon, Gord G; Mulligan, Anna Marie AM; Broeks, Annegien A; Cornelissen, Sten S; Haiman, Christopher A CA; Henderson, Brian E BE; Schumacher, Frederick F; Le Marchand, Loic L; Hopper, John L JL; Tsimiklis, Helen H; Apicella, Carmel C; Southey, Melissa C MC; Cross, Simon S SS; Reed, Malcolm Wr MW; Giles, Graham G GG; Milne, Roger L RL; McLean, Catriona C; Winqvist, Robert R; Pylkäs, Katri K; Jukkola-Vuorinen, Arja A; Grip, Mervi M; Hooning, Maartje J MJ; Hollestelle, Antoinette A; Martens, John Wm JW; van den Ouweland, Ans Mw AM; Marme, Federick F; Schneeweiss, Andreas A; Yang, Rongxi R; Burwinkel, Barbara B; Figueroa, Jonine J; Chanock, Stephen J SJ; Lissowska, Jolanta J; Sawyer, Elinor J EJ; Tomlinson, Ian I; Kerin, Michael J MJ; Miller, Nicola N; Brenner, Hermann H; Butterbach, Katja K; Holleczek, Bernd B; Kataja, Vesa V; Kosma, Veli-Matti VM; Hartikainen, Jaana M JM; Li, Jingmei J; Brand, Judith S JS; Humphreys, Keith K; Devilee, Peter P; Tollenaar, Robert Aem RA; Seynaeve, Caroline C; Radice, Paolo P; Peterlongo, Paolo P; Manoukian, Siranoush S; Ficarazzi, Filomena F; Beckmann, Matthias W MW; Hein, Alexander A; Ekici, Arif B AB; Balleine, Rosemary R; Phillips, Kelly-Anne KA; , ; Benitez, Javier J; Zamora, M Pilar MP; Perez, Jose Ignacio Arias JI; Menéndez, Primitiva P; Jakubowska, Anna A; Lubinski, Jan J; Gronwald, Jacek J; Durda, Katarzyna K; Hamann, Ute U; Kabisch, Maria M; Ulmer, Hans Ulrich HU; Rüdiger, Thomas T; Margolin, Sara S; Kristensen, Vessela V; Nord, Siljie S; , ; Evans, D Gareth DG; Abraham, Jean J; Earl, Helena H; Poole, Christopher J CJ; Hiller, Louise L; Dunn, Janet A JA; Bowden, Sarah S; Yang, Rose R; Campa, Daniele D; Diver, W Ryan WR; Gapstur, Susan M SM; Gaudet, Mia M MM; Hankinson, Susan S; Hoover, Robert N RN; Hüsing, Anika A; Kaaks, Rudolf R; Machiela, Mitchell J MJ; Willett, Walter W; Barrdahl, Myrto M; Canzian, Federico F; Chin, Suet-Feung SF; Caldas, Carlos C; Hunter, David J DJ; Lindstrom, Sara S; Garcia-Closas, Montserrat M; Couch, Fergus J FJ; Chenevix-Trench, Georgia G; Mannermaa, Arto A; Andrulis, Irene L IL; Hall, Per P; Chang-Claude, Jenny J; Easton, Douglas F DF; Bojesen, Stig E SE; Cox, Angela A; Fasching, Peter A PA; Pharoah, Paul Dp PD; Schmidt, Marjanka K MK
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: SIPA1: S182F; rs3741378
Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations.
Nature Genetics
Buczkowicz, Pawel P; Hoeman, Christine C; Rakopoulos, Patricia P; Pajovic, Sanja S; Letourneau, Louis L; Dzamba, Misko M; Morrison, Andrew A; Lewis, Peter P; Bouffet, Eric E; Bartels, Ute U; Zuccaro, Jennifer J; Agnihotri, Sameer S; Ryall, Scott S; Barszczyk, Mark M; Chornenkyy, Yevgen Y; Bourgey, Mathieu M; Bourque, Guillaume G; Montpetit, Alexandre A; Cordero, Francisco F; Castelo-Branco, Pedro P; Mangerel, Joshua J; Tabori, Uri U; Ho, King Ching KC; Huang, Annie A; Taylor, Kathryn R KR; Mackay, Alan A; Bendel, Anne E AE; Nazarian, Javad J; Fangusaro, Jason R JR; Karajannis, Matthias A MA; Zagzag, David D; Foreman, Nicholas K NK; Donson, Andrew A; Hegert, Julia V JV; Smith, Amy A; Chan, Jennifer J; Lafay-Cousin, Lucy L; Dunn, Sandra S; Hukin, Juliette J; Dunham, Chris C; Scheinemann, Katrin K; Michaud, Jean J; Zelcer, Shayna S; Ramsay, David D; Cain, Jason J; Brennan, Cameron C; Souweidane, Mark M MM; Jones, Chris C; Allis, C David CD; Brudno, Michael M; Becher, Oren O; Hawkins, Cynthia C
Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci.
American Journal Of Human Genetics
Tragante, Vinicius V; Barnes, Michael R MR; Ganesh, Santhi K SK; Lanktree, Matthew B MB; Guo, Wei W; Franceschini, Nora N; Smith, Erin N EN; Johnson, Toby T; Holmes, Michael V MV; Padmanabhan, Sandosh S; Karczewski, Konrad J KJ; Almoguera, Berta B; Barnard, John J; Baumert, Jens J; Chang, Yen-Pei Christy YP; Elbers, Clara C CC; Farrall, Martin M; Fischer, Mary E ME; Gaunt, Tom R TR; Gho, Johannes M I H JM; Gieger, Christian C; Goel, Anuj A; Gong, Yan Y; Isaacs, Aaron A; Kleber, Marcus E ME; Mateo Leach, Irene I; McDonough, Caitrin W CW; Meijs, Matthijs F L MF; Melander, Olle O; Nelson, Christopher P CP; Nolte, Ilja M IM; Pankratz, Nathan N; Price, Tom S TS; Shaffer, Jonathan J; Shah, Sonia S; Tomaszewski, Maciej M; van der Most, Peter J PJ; Van Iperen, Erik P A EP; Vonk, Judith M JM; Witkowska, Kate K; Wong, Caroline O L CO; Zhang, Li L; Beitelshees, Amber L AL; Berenson, Gerald S GS; Bhatt, Deepak L DL; Brown, Morris M; Burt, Amber A; Cooper-DeHoff, Rhonda M RM; Connell, John M JM; Cruickshanks, Karen J KJ; Curtis, Sean P SP; Davey-Smith, George G; Delles, Christian C; Gansevoort, Ron T RT; Guo, Xiuqing X; Haiqing, Shen S; Hastie, Claire E CE; Hofker, Marten H MH; Hovingh, G Kees GK; Kim, Daniel S DS; Kirkland, Susan A SA; Klein, Barbara E BE; Klein, Ronald R; Li, Yun R YR; Maiwald, Steffi S; Newton-Cheh, Christopher C; O'Brien, Eoin T ET; Onland-Moret, N Charlotte NC; Palmas, Walter W; Parsa, Afshin A; Penninx, Brenda W BW; Pettinger, Mary M; Vasan, Ramachandran S RS; Ranchalis, Jane E JE; M Ridker, Paul P; Rose, Lynda M LM; Sever, Peter P; Shimbo, Daichi D; Steele, Laura L; Stolk, Ronald P RP; Thorand, Barbara B; Trip, Mieke D MD; van Duijn, Cornelia M CM; Verschuren, W Monique WM; Wijmenga, Cisca C; Wyatt, Sharon S; Young, J Hunter JH; Zwinderman, Aeilko H AH; Bezzina, Connie R CR; Boerwinkle, Eric E; Casas, Juan P JP; Caulfield, Mark J MJ; Chakravarti, Aravinda A; Chasman, Daniel I DI; Davidson, Karina W KW; Doevendans, Pieter A PA; Dominiczak, Anna F AF; FitzGerald, Garret A GA; Gums, John G JG; Fornage, Myriam M; Hakonarson, Hakon H; Halder, Indrani I; Hillege, Hans L HL; Illig, Thomas T; Jarvik, Gail P GP; Johnson, Julie A JA; Kastelein, John J P JJ; Koenig, Wolfgang W; Kumari, Meena M; März, Winfried W; Murray, Sarah S SS; O'Connell, Jeffery R JR; Oldehinkel, Albertine J AJ; Pankow, James S JS; Rader, Daniel J DJ; Redline, Susan S; Reilly, Muredach P MP; Schadt, Eric E EE; Kottke-Marchant, Kandice K; Snieder, Harold H; Snyder, Michael M; Stanton, Alice V AV; Tobin, Martin D MD; Uitterlinden, André G AG; van der Harst, Pim P; van der Schouw, Yvonne T YT; Samani, Nilesh J NJ; Watkins, Hugh H; Johnson, Andrew D AD; Reiner, Alex P AP; Zhu, Xiaofeng X; de Bakker, Paul I W PI; Levy, Daniel D; Asselbergs, Folkert W FW; Munroe, Patricia B PB; Keating, Brendan J BJ
Publication Date: 2014-03-06
Variant appearance in text: SIPA1: Ser182Phe; rs3741378
Case-only analyses of the associations between polymorphisms in the metastasis-modifying genes BRMS1 and SIPA1 and breast tumor characteristics, lymph node metastasis, and survival.
Breast Cancer Research And Treatment
Roberts, Michelle R MR; Hong, Chi-Chen CC; Edge, Stephen B SB; Yao, Song S; Bshara, Wiam W; Higgins, Michael J MJ; Freudenheim, Jo L JL; Ambrosone, Christine B CB
Publication Date: 2013-06
Variant appearance in text: SIPA1: Ser182Phe; rs3741378
Genetic variation in SIPA1 in relation to breast cancer risk and survival after breast cancer diagnosis.
International Journal Of Cancer
Gaudet, Mia M MM; Hunter, Kent K; Pharoah, Paul P; Dunning, Alison M AM; Driver, Kristy K; Lissowska, Jolanta J; Sherman, Mark M; Peplonska, Beata B; Brinton, Louise A LA; Chanock, Stephen S; Garcia-Closas, Montserrat M