Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: VWF: 3925A>G; Ile1309Val
The VWF binding aptamer rondoraptivon pegol increases platelet counts and VWF/FVIII in type 2B von Willebrand disease.
Blood Advances
Ay, Cihan C; Pabinger, Ingrid I; Kovacevic, Katarina D KD; Gelbenegger, Georg G; Schörgenhofer, Christian C; Quehenberger, Peter P; Jilma-Stohlawetz, Petra P; Sunder-Plassman, Raute R; Gilbert, James C JC; Zhu, Shuhao S; Jilma, Bernd B; Derhaschnig, Ulla U
The von Willebrand factor Tyr2561 allele is a gain-of-function variant and a risk factor for early myocardial infarction.
Blood
Schneppenheim, Reinhard R; Hellermann, Natalie N; Brehm, Maria A MA; Klemm, Ulrike U; Obser, Tobias T; Huck, Volker V; Schneider, Stefan W SW; Denis, Cécile V CV; Tischer, Alexander A; Auton, Matthew M; März, Winfried W; Xu, Emma-Ruoqi ER; Wilmanns, Matthias M; Zotz, Rainer B RB
Enhanced Local Disorder in a Clinically Elusive von Willebrand Factor Provokes High-Affinity Platelet Clumping.
Journal Of Molecular Biology
Tischer, Alexander A; Machha, Venkata R VR; Frontroth, Juan P JP; Brehm, Maria A MA; Obser, Tobias T; Schneppenheim, Reinhard R; Mayne, Leland L; Walter Englander, S S; Auton, Matthew M
Data on the purification and crystallization of the loss-of-function von Willebrand disease variant (p.Gly1324Ser) of the von Willebrand factor A1 domain.
Data In Brief
Campbell, James C JC; Tischer, Alexander A; Machha, Venkata V; Moon-Tasson, Laurie L; Sankaran, Banumathi B; Kim, Choel C; Auton, Matthew M
Mutational Constraints on Local Unfolding Inhibit the Rheological Adaptation of von Willebrand Factor.
The Journal Of Biological Chemistry
Tischer, Alexander A; Campbell, James C JC; Machha, Venkata R VR; Moon-Tasson, Laurie L; Benson, Linda M LM; Sankaran, Banumathi B; Kim, Choel C; Auton, Matthew M