A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER
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
Phenotypic and Genotypic Signatures of VWF Exon 18 in Eastern Saudi Patients Previously Diagnosed with Type 1 von Willebrand Disease.
International Journal Of General Medicine
Alzahrani, Faisal M FM; Al Faris, Asma A AA; Bashawri, Layla A LA; Hassan, Fathelrahman Mahdi FM; El-Masry, Omar S OS; Aldossary, Maryam A MA; Al Sultan, Osama O; Borgio, J Francis JF; Alsahli, Mohammed A MA; Goodeve, Anne A
Publication Date: 2022
Variant appearance in text: VWF: 2385T>C; Tyr795=; rs1063857
Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis.
Plos One
Pagliari, Maria Teresa MT; Cairo, Andrea A; Boscarino, Marco M; Mancini, Ilaria I; Pappalardo, Emanuela E; Bucciarelli, Paolo P; Martinelli, Ida I; Rosendaal, Frits R FR; Peyvandi, Flora F
Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.
Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08
Variant appearance in text: VWF: 2385T>C; Y795Y; rs1063857
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
Publication Date: 2020-10
Variant appearance in text: VWF: 2385T>C; rs1063857
Gene Variants Associated With Venous Thrombosis: A Replication Study in a Brazilian Multicentre Study.
Clinical And Applied Thrombosis/Hemostasis : Official Journal Of The International Academy Of Clinical And Applied Thrombosis/Hemostasis
Romano, Anna Virgínia Calazans AVC; Barnabé, Aline A; Gadelha, Telma Barbosa TB; Guerra, João Carlos de Campos JCC; Secolin, Rodrigo R; Orsi, Fernanda Loureiro de Andrade FLA; Campanate, Gizele de Castro Sousa GCS; Wolosker, Nelson N; Annichino-Bizzacchi, Joyce Maria JM
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
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
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
The scavenger receptor SCARA5 is an endocytic receptor for von Willebrand factor expressed by littoral cells in the human spleen.
Journal Of Thrombosis And Haemostasis : Jth
Swystun, Laura L LL; Ogiwara, Kenichi K; Lai, Jesse D JD; Ojala, Juha R M JRM; Rawley, Orla O; Lassalle, Fanny F; Notley, Colleen C; Rengby, Olle O; Michels, Alison A; Nesbitt, Kate K; Tryggvason, Karl K; Lillicrap, David D
Role of factor VIII-binding capacity of endogenous von Willebrand factor in the development of factor VIII inhibitors in patients with severe hemophilia A.
Haematologica
Repessé, Yohann Y; Costa, Catherine C; Palla, Roberta R; Moshai, Elika Farrokhi EF; Borel-Derlon, Annie A; D'Oiron, Roseline R; Rothschild, Chantal C; El-Beshlawy, Amal A; Elalfy, Mohsen M; Ramanan, Vijay V; Eshghi, Peyman P; Oldenburg, Johannes J; Pavlova, Anna A; Rosendaal, Frits R FR; Peyvandi, Flora F; Kaveri, Srinivas V SV; Lacroix-Desmazes, Sébastien S
Publication Date: 2019-08
Variant appearance in text: VWF: 2385T>C; Tyr795Tyr; rs1063857
Common VWF sequence variants associated with higher VWF and FVIII are less frequent in subjects diagnosed with type 1 VWD.
Research And Practice In Thrombosis And Haemostasis
Flood, Veronica H VH; Johnsen, Jill M JM; Kochelek, Caroline C; Slobodianuk, Tricia L TL; Christopherson, Pamela A PA; Haberichter, Sandra L SL; Udani, Rupa R; Bellissimo, Daniel B DB; Friedman, Kenneth D KD; Montgomery, Robert R RR
Publication Date: 2018-04
Variant appearance in text: VWF: 2385T>C; Tyr795Tyr; rs1063857
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: 2385T>C; Y795=; rs1063857
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.
Which Risk Factors Causally Influence Dementia? A Systematic Review of Mendelian Randomization Studies.
Journal Of Alzheimer'S Disease : Jad
Kuźma, Elżbieta E; Hannon, Eilis E; Zhou, Ang A; Lourida, Ilianna I; Bethel, Alison A; Levine, Deborah A DA; Lunnon, Katie K; Thompson-Coon, Jo J; Hyppönen, Elina E; Llewellyn, David J DJ
Association between cognition and gene polymorphisms involved in thrombosis and haemostasis.
Age (Dordrecht, Netherlands)
Quinn, Terence J TJ; Alghamdi, Jahad J; Padmanabhan, Sandosh S; Porteous, David J DJ; Smith, Blair H BH; Hocking, Lynne L; Deary, Ian J IJ; Gallacher, John J; Messow, Martina M; Stott, David J DJ
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
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
Common and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project.
Blood
Johnsen, Jill M JM; Auer, Paul L PL; Morrison, Alanna C AC; Jiao, Shuo S; Wei, Peng P; Haessler, Jeffrey J; Fox, Keolu K; McGee, Sean R SR; Smith, Joshua D JD; Carlson, Christopher S CS; Smith, Nicholas N; Boerwinkle, Eric E; Kooperberg, Charles C; Nickerson, Deborah A DA; Rich, Stephen S SS; Green, David D; Peters, Ulrike U; Cushman, Mary M; Reiner, Alex P AP; ,
Publication Date: 2013-07-25
Variant appearance in text: VWF: Tyr795Tyr; rs1063857
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
Genetic determinants of plasma von Willebrand factor antigen levels: a target gene SNP and haplotype analysis of ARIC cohort.
Blood
Campos, Marco M; Sun, Wei W; Yu, Fuli F; Barbalic, Maja M; Tang, Weihong W; Chambless, Lloyd E LE; Wu, Kenneth K KK; Ballantyne, Christie C; Folsom, Aaron R AR; Boerwinkle, Eric E; Dong, Jing-Fei JF
Genetic variation associated with plasma von Willebrand factor levels and the risk of incident venous thrombosis.
Blood
Smith, Nicholas L NL; Rice, Kenneth M KM; Bovill, Edwin G EG; Cushman, Mary M; Bis, Joshua C JC; McKnight, Barbara B; Lumley, Thomas T; Glazer, Nicole L NL; van Hylckama Vlieg, Astrid A; Tang, Weihong W; Dehghan, Abbas A; Strachan, David P DP; O'Donnell, Christopher J CJ; Rotter, Jerome I JI; Heckbert, Susan R SR; Psaty, Bruce M BM; Rosendaal, Frits R FR