ABO O blood group as a risk factor for platelet reactivity in heparin-induced thrombocytopenia.
Blood
Karnes, Jason H JH; Rollin, Jerome J; Giles, Jason B JB; Martinez, Kiana L KL; Steiner, Heidi E HE; Shaffer, Christian M CM; Momozawa, Yukihide Y; Inai, Chihiro C; Bombin, Andrei A; Shi, Mingjian M; Mosley, Jonathan D JD; Stanaway, Ian I; Selleng, Kathleen K; Thiele, Thomas T; Mushiroda, Taisei T; Pouplard, Claire C; Heddle, Nancy M NM; Kubo, Michiaki M; Phillips, Elizabeth J EJ; Warkentin, Theodore E TE; Gruel, Yves Y; Greinacher, Andreas A; Roden, Dan M DM
Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.
Bmc Medical Genomics
Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y
Common and Rare Variants in Genes Associated with von Willebrand Factor Level Variation: No Accumulation of Rare Variants in Swedish von Willebrand Disease Patients.
Th Open : Companion Journal To Thrombosis And Haemostasis
Manderstedt, Eric E; Lind-Halldén, Christina C; Lethagen, Stefan S; Halldén, Christer C
Ex vivo Improvement of a von Willebrand Disease Type 2A Phenotype Using an Allele-Specific Small-Interfering RNA.
Thrombosis And Haemostasis
de Jong, Annika A; Dirven, Richard J RJ; Boender, Johan J; Atiq, Ferdows F; Anvar, Seyed Yahya SY; Leebeek, Frank W G FWG; van Vlijmen, Bart J M BJM; Eikenboom, Jeroen J
Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism.
Blood
Lindström, Sara S; Wang, Lu L; Smith, Erin N EN; Gordon, William W; van Hylckama Vlieg, Astrid A; de Andrade, Mariza M; Brody, Jennifer A JA; Pattee, Jack W JW; Haessler, Jeffrey J; Brumpton, Ben M BM; Chasman, Daniel I DI; Suchon, Pierre P; Chen, Ming-Huei MH; Turman, Constance C; Germain, Marine M; Wiggins, Kerri L KL; MacDonald, James J; Braekkan, Sigrid K SK; Armasu, Sebastian M SM; Pankratz, Nathan N; Jackson, Rebecca D RD; Nielsen, Jonas B JB; Giulianini, Franco F; Puurunen, Marja K MK; Ibrahim, Manal M; Heckbert, Susan R SR; Damrauer, Scott M SM; Natarajan, Pradeep P; Klarin, Derek D; , ; de Vries, Paul S PS; Sabater-Lleal, Maria M; Huffman, Jennifer E JE; , ; Bammler, Theo K TK; Frazer, Kelly A KA; McCauley, Bryan M BM; Taylor, Kent K; Pankow, James S JS; Reiner, Alexander P AP; Gabrielsen, Maiken E ME; Deleuze, Jean-François JF; O'Donnell, Chris J CJ; Kim, Jihye J; McKnight, Barbara B; Kraft, Peter P; Hansen, John-Bjarne JB; Rosendaal, Frits R FR; Heit, John A JA; Psaty, Bruce M BM; Tang, Weihong W; Kooperberg, Charles C; Hveem, Kristian K; Ridker, Paul M PM; Morange, Pierre-Emmanuel PE; Johnson, Andrew D AD; Kabrhel, Christopher C; Trégouët, David-Alexandre DA; Smith, Nicholas L NL
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
Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels.
Circulation
Sabater-Lleal, Maria M; Huffman, Jennifer E JE; de Vries, Paul S PS; Marten, Jonathan J; Mastrangelo, Michael A MA; Song, Ci C; Pankratz, Nathan N; Ward-Caviness, Cavin K CK; Yanek, Lisa R LR; Trompet, Stella S; Delgado, Graciela E GE; Guo, Xiuqing X; Bartz, Traci M TM; Martinez-Perez, Angel A; Germain, Marine M; de Haan, Hugoline G HG; Ozel, Ayse B AB; Polasek, Ozren O; Smith, Albert V AV; Eicher, John D JD; Reiner, Alex P AP; Tang, Weihong W; Davies, Neil M NM; Stott, David J DJ; Rotter, Jerome I JI; Tofler, Geoffrey H GH; Boerwinkle, Eric E; de Maat, Moniek P M MPM; Kleber, Marcus E ME; Welsh, Paul P; Brody, Jennifer A JA; Chen, Ming-Huei MH; Vaidya, Dhananjay D; Soria, José Manuel JM; Suchon, Pierre P; van Hylckama Vlieg, Astrid A; Desch, Karl C KC; Kolcic, Ivana I; Joshi, Peter K PK; Launer, Lenore J LJ; Harris, Tamara B TB; Campbell, Harry H; Rudan, Igor I; Becker, Diane M DM; Li, Jun Z JZ; Rivadeneira, Fernando F; Uitterlinden, André G AG; Hofman, Albert A; Franco, Oscar H OH; Cushman, Mary M; Psaty, Bruce M BM; Morange, Pierre-Emmanuel PE; McKnight, Barbara B; Chong, Michael R MR; Fernandez-Cadenas, Israel I; Rosand, Jonathan J; Lindgren, Arne A; , ; Gudnason, Vilmundur V; Wilson, James F JF; Hayward, Caroline C; Ginsburg, David D; Fornage, Myriam M; Rosendaal, Frits R FR; Souto, Juan Carlos JC; Becker, Lewis C LC; Jenny, Nancy S NS; März, Winfried W; Jukema, J Wouter JW; Dehghan, Abbas A; Trégouët, David-Alexandre DA; Morrison, Alanna C AC; Johnson, Andrew D AD; O'Donnell, Christopher J CJ; Strachan, David P DP; Lowenstein, Charles J CJ; Smith, Nicholas L NL
The common VWF single nucleotide variants c.2365A>G and c.2385T>C modify VWF biosynthesis and clearance.
Blood Advances
Mufti, Ahmad H AH; Ogiwara, Kenichi K; Swystun, Laura L LL; Eikenboom, Jeroen C J JCJ; Budde, Ulrich U; Hopman, Wilma M WM; Halldén, Christer C; Goudemand, Jenny J; Peake, Ian R IR; Goodeve, Anne C AC; Lillicrap, David D; Hampshire, Daniel J DJ; ,
Publication Date: 2018-07-10
Variant appearance in text: VWF: 2365A>C; T789P; rs1063856
Genetic Drivers of von Willebrand Factor Levels in an Ischemic Stroke Population and Association With Risk for Recurrent Stroke.
Stroke
Williams, Stephen R SR; Hsu, Fang-Chi FC; Keene, Keith L KL; Chen, Wei-Min WM; Dzhivhuho, Godfrey G; Rowles, Joe L JL; Southerland, Andrew M AM; Furie, Karen L KL; Rich, Stephen S SS; Worrall, Bradford B BB; Sale, Michèle M MM; ,
Identification of unique venous thromboembolism-susceptibility variants in African-Americans.
Thrombosis And Haemostasis
Heit, John A JA; Armasu, Sebastian M SM; McCauley, Bryan M BM; Kullo, Iftikhar J IJ; Sicotte, Hugues H; Pathak, Jyotishman J; Chute, Christopher G CG; Gottesman, Omri O; Bottinger, Erwin P EP; Denny, Joshua C JC; Roden, Dan M DM; Li, Rongling R; Ritchie, Marylyn D MD; de Andrade, Mariza M
Genome-wide studies of von Willebrand factor propeptide identify loci contributing to variation in propeptide levels and von Willebrand factor clearance.
Journal Of Thrombosis And Haemostasis : Jth
Ozel, A B AB; McGee, B B; Siemieniak, D D; Jacobi, P M PM; Haberichter, S L SL; Brody, L C LC; Mills, J L JL; Molloy, A M AM; Ginsburg, D D; Li, J Z JZ; Desch, K C KC
Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF.
Blood
Huffman, Jennifer E JE; de Vries, Paul S PS; Morrison, Alanna C AC; Sabater-Lleal, Maria M; Kacprowski, Tim T; Auer, Paul L PL; Brody, Jennifer A JA; Chasman, Daniel I DI; Chen, Ming-Huei MH; Guo, Xiuqing X; Lin, Li-An LA; Marioni, Riccardo E RE; Müller-Nurasyid, Martina M; Yanek, Lisa R LR; Pankratz, Nathan N; Grove, Megan L ML; de Maat, Moniek P M MP; Cushman, Mary M; Wiggins, Kerri L KL; Qi, Lihong L; Sennblad, Bengt B; Harris, Sarah E SE; Polasek, Ozren O; Riess, Helene H; Rivadeneira, Fernando F; Rose, Lynda M LM; Goel, Anuj A; Taylor, Kent D KD; Teumer, Alexander A; Uitterlinden, André G AG; Vaidya, Dhananjay D; Yao, Jie J; Tang, Weihong W; Levy, Daniel D; Waldenberger, Melanie M; Becker, Diane M DM; Folsom, Aaron R AR; Giulianini, Franco F; Greinacher, Andreas A; Hofman, Albert A; Huang, Chiang-Ching CC; Kooperberg, Charles C; Silveira, Angela A; Starr, John M JM; Strauch, Konstantin K; Strawbridge, Rona J RJ; Wright, Alan F AF; McKnight, Barbara B; Franco, Oscar H OH; Zakai, Neil N; Mathias, Rasika A RA; Psaty, Bruce M BM; Ridker, Paul M PM; Tofler, Geoffrey H GH; Völker, Uwe U; Watkins, Hugh H; Fornage, Myriam M; Hamsten, Anders A; Deary, Ian J IJ; Boerwinkle, Eric E; Koenig, Wolfgang W; Rotter, Jerome I JI; Hayward, Caroline C; Dehghan, Abbas A; Reiner, Alex P AP; O'Donnell, Christopher J CJ; Smith, Nicholas L NL
A comparative encyclopedia of DNA elements in the mouse genome.
Nature
Yue, Feng F; Cheng, Yong Y; Breschi, Alessandra A; Vierstra, Jeff J; Wu, Weisheng W; Ryba, Tyrone T; Sandstrom, Richard R; Ma, Zhihai Z; Davis, Carrie C; Pope, Benjamin D BD; Shen, Yin Y; Pervouchine, Dmitri D DD; Djebali, Sarah S; Thurman, Robert E RE; Kaul, Rajinder R; Rynes, Eric E; Kirilusha, Anthony A; Marinov, Georgi K GK; Williams, Brian A BA; Trout, Diane D; Amrhein, Henry H; Fisher-Aylor, Katherine K; Antoshechkin, Igor I; DeSalvo, Gilberto G; See, Lei-Hoon LH; Fastuca, Meagan M; Drenkow, Jorg J; Zaleski, Chris C; Dobin, Alex A; Prieto, Pablo P; Lagarde, Julien J; Bussotti, Giovanni G; Tanzer, Andrea A; Denas, Olgert O; Li, Kanwei K; Bender, M A MA; Zhang, Miaohua M; Byron, Rachel R; Groudine, Mark T MT; McCleary, David D; Pham, Long L; Ye, Zhen Z; Kuan, Samantha S; Edsall, Lee L; Wu, Yi-Chieh YC; Rasmussen, Matthew D MD; Bansal, Mukul S MS; Kellis, Manolis M; Keller, Cheryl A CA; Morrissey, Christapher S CS; Mishra, Tejaswini T; Jain, Deepti D; Dogan, Nergiz N; Harris, Robert S RS; Cayting, Philip P; Kawli, Trupti T; Boyle, Alan P AP; Euskirchen, Ghia G; Kundaje, Anshul A; Lin, Shin S; Lin, Yiing Y; Jansen, Camden C; Malladi, Venkat S VS; Cline, Melissa S MS; Erickson, Drew T DT; Kirkup, Vanessa M VM; Learned, Katrina K; Sloan, Cricket A CA; Rosenbloom, Kate R KR; Lacerda de Sousa, Beatriz B; Beal, Kathryn K; Pignatelli, Miguel M; Flicek, Paul P; Lian, Jin J; Kahveci, Tamer T; Lee, Dongwon D; Kent, W James WJ; Ramalho Santos, Miguel M; Herrero, Javier J; Notredame, Cedric C; Johnson, Audra A; Vong, Shinny S; Lee, Kristen K; Bates, Daniel D; Neri, Fidencio F; Diegel, Morgan M; Canfield, Theresa T; Sabo, Peter J PJ; Wilken, Matthew S MS; Reh, Thomas A TA; Giste, Erika E; Shafer, Anthony A; Kutyavin, Tanya T; Haugen, Eric E; Dunn, Douglas D; Reynolds, Alex P AP; Neph, Shane S; Humbert, Richard R; Hansen, R Scott RS; De Bruijn, Marella M; Selleri, Licia L; Rudensky, Alexander A; Josefowicz, Steven S; Samstein, Robert R; Eichler, Evan E EE; Orkin, Stuart H SH; Levasseur, Dana D; Papayannopoulou, Thalia T; Chang, Kai-Hsin KH; Skoultchi, Arthur A; Gosh, Srikanta S; Disteche, Christine C; Treuting, Piper P; Wang, Yanli Y; Weiss, Mitchell J MJ; Blobel, Gerd A GA; Cao, Xiaoyi X; Zhong, Sheng S; Wang, Ting T; Good, Peter J PJ; Lowdon, Rebecca F RF; Adams, Leslie B LB; Zhou, Xiao-Qiao XQ; Pazin, Michael J MJ; Feingold, Elise A EA; Wold, Barbara B; Taylor, James J; Mortazavi, Ali A; Weissman, Sherman M SM; Stamatoyannopoulos, John A JA; Snyder, Michael P MP; Guigo, Roderic R; Gingeras, Thomas R TR; Gilbert, David M DM; Hardison, Ross C RC; Beer, Michael A MA; Ren, Bing B; ,
Solution structure of the major factor VIII binding region on von Willebrand factor.
Blood
Shiltagh, Nuha N; Kirkpatrick, John J; Cabrita, Lisa D LD; McKinnon, Tom A J TA; Thalassinos, Konstantinos K; Tuddenham, Edward G D EG; Hansen, D Flemming DF
Tissue-specific RNA-Seq in human evoked inflammation identifies blood and adipose LincRNA signatures of cardiometabolic diseases.
Arteriosclerosis, Thrombosis, And Vascular Biology
Liu, Yichuan Y; Ferguson, Jane F JF; Xue, Chenyi C; Ballantyne, Rachel L RL; Silverman, Ian M IM; Gosai, Sager J SJ; Serfecz, Jacquelyn J; Morley, Michael P MP; Gregory, Brian D BD; Li, Mingyao M; Reilly, Muredach P MP
Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Desch, Karl C KC; Ozel, Ayse B AB; Siemieniak, David D; Kalish, Yossi Y; Shavit, Jordan A JA; Thornburg, Courtney D CD; Sharathkumar, Anjali A AA; McHugh, Caitlin P CP; Laurie, Cathy C CC; Crenshaw, Andrew A; Mirel, Daniel B DB; Kim, Yoonhee Y; Cropp, Cheryl D CD; Molloy, Anne M AM; Kirke, Peadar N PN; Bailey-Wilson, Joan E JE; Wilson, Alexander F AF; Mills, James L JL; Scott, John M JM; Brody, Lawrence C LC; Li, Jun Z JZ; Ginsburg, David D
A common ancestor more than 10,000 years old for patients with R854Q-related type 2N von Willebrand's disease in Italy.
Haematologica
Casonato, Alessandra A; Daidone, Viviana V; Barbon, Giovanni G; Pontara, Elena E; Di Pasquale, Irene I; Gallinaro, Lisa L; Marullo, Letizia L; Bertorelle, Giorgio G
Polymorphisms of PAI-1 and platelet GP Ia may associate with impairment of renal function and thrombocytopenia in Puumala hantavirus infection.
Thrombosis Research
Laine, Outi O; Joutsi-Korhonen, Lotta L; Mäkelä, Satu S; Mikkelsson, Jussi J; Pessi, Tanja T; Tuomisto, Sari S; Huhtala, Heini H; Libraty, Daniel D; Vaheri, Antti A; Karhunen, Pekka P; Mustonen, Jukka J
Genetics of venous thrombosis: insights from a new genome wide association study.
Plos One
Germain, Marine M; Saut, Noémie N; Greliche, Nicolas N; Dina, Christian C; Lambert, Jean-Charles JC; Perret, Claire C; Cohen, William W; Oudot-Mellakh, Tiphaine T; Antoni, Guillemette G; Alessi, Marie-Christine MC; Zelenika, Diana D; Cambien, François F; Tiret, Laurence L; Bertrand, Marion M; Dupuy, Anne-Marie AM; Letenneur, Luc L; Lathrop, Mark M; Emmerich, Joseph J; Amouyel, Philippe P; Trégouët, David-Alexandre DA; Morange, Pierre-Emmanuel PE
Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels.
Bmc Medical Genetics
Antoni, Guillemette G; Oudot-Mellakh, Tiphaine T; Dimitromanolakis, Apostolos A; Germain, Marine M; Cohen, William W; Wells, Philip P; Lathrop, Mark M; Gagnon, France F; Morange, Pierre-Emmanuel PE; Tregouet, David-Alexandre DA