Publications:

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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

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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

Publication Date: 2022-09-27

Variant appearance in text: VWF: I1309V

PubMed Link: 35772170

Variant Present in the following documents:

• Main text
• advancesADV2022007805.pdf

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Gain-of-Function Variant p.Pro2555Arg of von Willebrand Factor Increases Aggregate Size through Altering Stem Dynamics.

Thrombosis And Haemostasis

Huck, Volker V; Chen, Po-Chia PC; Xu, Emma-Ruoqi ER; Tischer, Alexander A; Klemm, Ulrike U; Aponte-Santamaría, Camilo C; Mess, Christian C; Obser, Tobias T; Kutzki, Fabian F; König, Gesa G; Denis, Cécile V CV; Gräter, Frauke F; Wilmanns, Matthias M; Auton, Matthew M; Schneider, Stefan W SW; Schneppenheim, Reinhard R; Hennig, Janosch J; Brehm, Maria A MA

Publication Date: 2020-12-31

Variant appearance in text: VWF: Ile1309Val

PubMed Link: 33385180

Variant Present in the following documents:

• 10-1055-a-1344-4405-s200635.pdf

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Gain-of-Function Variant p.Pro2555Arg of von Willebrand Factor Increases Aggregate Size through Altering Stem Dynamics.

Thrombosis And Haemostasis

Huck, Volker V; Chen, Po-Chia PC; Xu, Emma-Ruoqi ER; Tischer, Alexander A; Klemm, Ulrike U; Aponte-Santamaría, Camilo C; Mess, Christian C; Obser, Tobias T; Kutzki, Fabian F; König, Gesa G; Denis, Cécile V CV; Gräter, Frauke F; Wilmanns, Matthias M; Auton, Matthew M; Schneider, Stefan W SW; Schneppenheim, Reinhard R; Hennig, Janosch J; Brehm, Maria A MA

Publication Date: 2022-02

Variant appearance in text: VWF: Ile1309Val

PubMed Link: 33385180

Variant Present in the following documents:

• 10-1055-a-1344-4405-s200635.pdf

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: VWF: I1309V

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: VWF: 3925A>G; Ile1309Val; rs61749389

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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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

Publication Date: 2019-01-24

Variant appearance in text: VWF: Ile1309Val

PubMed Link: 30366922

Variant Present in the following documents:

• Main text

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Specific electrostatic interactions between charged amino acid residues regulate binding of von Willebrand factor to blood platelets.

The Journal Of Biological Chemistry

Interlandi, Gianluca G; Yakovenko, Olga O; Tu, An-Yue AY; Harris, Jeff J; Le, Jennie J; Chen, Junmei J; López, José A JA; Thomas, Wendy E WE

Publication Date: 2017-11-10

Variant appearance in text: VWF: I1309V

PubMed Link: 28924049

Variant Present in the following documents:

• Main text

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A discontinuous autoinhibitory module masks the A1 domain of von Willebrand factor.

Journal Of Thrombosis And Haemostasis : Jth

Deng, W W; Wang, Y Y; Druzak, S A SA; Healey, J F JF; Syed, A K AK; Lollar, P P; Li, R R

Publication Date: 2017-09

Variant appearance in text: VWF: I1309V

PubMed Link: 28692141

Variant Present in the following documents:

• Main text

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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

Publication Date: 2017-07-07

Variant appearance in text: VWF: I1309V

PubMed Link: 28533135

Variant Present in the following documents:

• Main text

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Impact of genetic variation on three dimensional structure and function of proteins.

Plos One

Bhattacharya, Roshni R; Rose, Peter W PW; Burley, Stephen K SK; Prlić, Andreas A

Publication Date: 2017

Variant appearance in text: rs61749389

PubMed Link: 28296894

Variant Present in the following documents:

• Main text
• pone.0171355.pdf

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The Von Willebrand Factor A1-Collagen III Interaction Is Independent of Conformation and Type 2 Von Willebrand Disease Phenotype.

Journal Of Molecular Biology

Machha, Venkata R VR; Tischer, Alexander A; Moon-Tasson, Laurie L; Auton, Matthew M

Publication Date: 2017-01-06

Variant appearance in text: VWF: I1309V

PubMed Link: 27889474

Variant Present in the following documents:

• Main text

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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

Publication Date: 2016-06

Variant appearance in text: VWF: I1309V

PubMed Link: 27761512

Variant Present in the following documents:

• Main text
• main.pdf

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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

Publication Date: 2016-02-19

Variant appearance in text: VWF: I1309V

PubMed Link: 26677223

Variant Present in the following documents:

• Main text

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Exploiting the kinetic interplay between GPIbα-VWF binding interfaces to regulate hemostasis and thrombosis.

Blood

Chen, Jianchung J; Zhou, Hairu H; Diacovo, Alexander A; Zheng, X Long XL; Emsley, Jonas J; Diacovo, Thomas G TG

Publication Date: 2014-12-11

Variant appearance in text: VWF: I1309V

PubMed Link: 25293780

Variant Present in the following documents:

• Main text

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Structural basis of regulation of von Willebrand factor binding to glycoprotein Ib.

The Journal Of Biological Chemistry

Blenner, Mark A MA; Dong, Xianchi X; Springer, Timothy A TA

Publication Date: 2014-02-28

Variant appearance in text: VWF: I1309V

PubMed Link: 24391089

Variant Present in the following documents:

• Main text

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The mechanism of VWF-mediated platelet GPIbalpha binding.

Biophysical Journal

Auton, Matthew M; Zhu, Cheng C; Cruz, Miguel A MA

Publication Date: 2010-08-09

Variant appearance in text: VWF: I1309V

PubMed Link: 20713003

Variant Present in the following documents:

• Main text

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Laboratory testing for von Willebrand disease: toward a mechanism-based classification.

Clinics In Laboratory Medicine

Torres, Richard R; Fedoriw, Yuri Y

Publication Date: 2009-06

Variant appearance in text: VWF: I1309V

PubMed Link: 19665675

Variant Present in the following documents:

• Main text

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Changes in thermodynamic stability of von Willebrand factor differentially affect the force-dependent binding to platelet GPIbalpha.

Biophysical Journal

Auton, Matthew M; Sedlák, Erik E; Marek, Jozef J; Wu, Tao T; Zhu, Cheng C; Cruz, Miguel A MA

Publication Date: 2009-07-22

Variant appearance in text: VWF: I1309V

PubMed Link: 19619477

Variant Present in the following documents:

• Main text

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