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
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: 2880G>A; R960R; rs1800380
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
Coagulation factor VIII: Relationship to cardiovascular disease risk and whole genome sequence and epigenome-wide analysis in African Americans.
Journal Of Thrombosis And Haemostasis : Jth
Raffield, Laura M LM; Lu, Ake T AT; Szeto, Mindy D MD; Little, Amarise A; Grinde, Kelsey E KE; Shaw, Jessica J; Auer, Paul L PL; Cushman, Mary M; Horvath, Steve S; Irvin, Marguerite R MR; Lange, Ethan M EM; Lange, Leslie A LA; Nickerson, Deborah A DA; Thornton, Timothy A TA; Wilson, James G JG; Wheeler, Marsha M MM; , ; Zakai, Neil A NA; Reiner, Alex P AP
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
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: 2880G>A; Arg960Arg; rs1800380
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: 2880G>A; Arg960=; rs1800380
Gene-centric approach identifies new and known loci for FVIII activity and VWF antigen levels in European Americans and African Americans.
American Journal Of Hematology
Tang, Weihong W; Cushman, Mary M; Green, David D; Rich, Stephen S SS; Lange, Leslie A LA; Yang, Qiong Q; Tracy, Russell P RP; Tofler, Geoffrey H GH; Basu, Saonli S; Wilson, James G JG; Keating, Brendan J BJ; Weng, Lu-Chen LC; Taylor, Herman A HA; Jacobs, David R DR; Delaney, Joseph A JA; Palmer, Cameron D CD; Young, Taylor T; Pankow, James S JS; O'Donnell, Christopher J CJ; Smith, Nicholas L NL; Reiner, Alexander P AP; Folsom, Aaron R AR
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
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