Publications:

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Analysis of von Willebrand Disease in the "Heart of Europe".

Th Open : Companion Journal To Thrombosis And Haemostasis

Vangenechten, Inge I; Smejkal, Petr P; Zavrelova, Jiri J; Zapletal, Ondrej O; Wild, Alexander A; Michiels, Jan Jacques JJ; Berneman, Zwi Z; Blatny, Jan J; Batorova, Angelika A; Prigancova, Tatiana T; Penka, Miroslav M; Gadisseur, Alain A

Publication Date: 2022-10

Variant appearance in text: VWF: 4912G>A; Glu1638Lys

PubMed Link: 36299619

Variant Present in the following documents:

• 10-1055-s-0042-1757635-s22060029.pdf

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Improving diagnosis of von Willebrand disease: Reference ranges for von Willebrand factor multimer distribution.

Research And Practice In Thrombosis And Haemostasis

Vangenechten, Inge I; Gadisseur, Alain A

Publication Date: 2020-08

Variant appearance in text: VWF: Glu1638Lys

PubMed Link: 32864553

Variant Present in the following documents:

• RTH2-4-1024-s004.xlsx, sheet 1

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Long-ranged Protein-glycan Interactions Stabilize von Willebrand Factor A2 Domain from Mechanical Unfolding.

Scientific Reports

Dong, Chuqiao C; Lee, Jumin J; Kim, Seonghoon S; Lai, Whitney W; Webb, Edmund B EB; Oztekin, Alparslan A; Zhang, X Frank XF; Im, Wonpil W

Publication Date: 2018-10-30

Variant appearance in text: VWF: E1638K

PubMed Link: 30375453

Variant Present in the following documents:

• 41598_2018_Article_34374.pdf

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A common mechanism by which type 2A von Willebrand disease mutations enhance ADAMTS13 proteolysis revealed with a von Willebrand factor A2 domain FRET construct.

Plos One

Lynch, Christopher J CJ; Cawte, Adam D AD; Millar, Carolyn M CM; Rueda, David D; Lane, David A DA

Publication Date: 2017

Variant appearance in text: VWF: E1638K

PubMed Link: 29186156

Variant Present in the following documents:

• Main text
• pone.0188405.pdf

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Mutation G1629E Increases von Willebrand Factor Cleavage via a Cooperative Destabilization Mechanism.

Biophysical Journal

Aponte-Santamaría, Camilo C; Lippok, Svenja S; Mittag, Judith J JJ; Obser, Tobias T; Schneppenheim, Reinhard R; Baldauf, Carsten C; Gräter, Frauke F; Budde, Ulrich U; Rädler, Joachim O JO

Publication Date: 2017-01-10

Variant appearance in text: VWF: E1638K

PubMed Link: 28076816

Variant Present in the following documents:

• Main text

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: VWF: E1638K

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3
• 12859_2015_673_MOESM2_ESM.xls, sheet 1

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Mechanisms by which von Willebrand disease mutations destabilize the A2 domain.

The Journal Of Biological Chemistry

Xu, Amy J AJ; Springer, Timothy A TA

Publication Date: 2013-03-01

Variant appearance in text: VWF: E1638K

PubMed Link: 23322777

Variant Present in the following documents:

• Main text

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Structural basis of type 2A von Willebrand disease investigated by molecular dynamics simulations and experiments.

Plos One

Interlandi, Gianluca G; Ling, Minhua M; Tu, An Yue AY; Chung, Dominic W DW; Thomas, Wendy E WE

Publication Date: 2012

Variant appearance in text: VWF: E1638K

PubMed Link: 23110044

Variant Present in the following documents:

• Main text
• pone.0045207.pdf

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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: E1638K

PubMed Link: 19665675

Variant Present in the following documents:

• Main text

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Structural specializations of A2, a force-sensing domain in the ultralarge vascular protein von Willebrand factor.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Zhang, Qing Q; Zhou, Yan-Feng YF; Zhang, Cheng-Zhong CZ; Zhang, Xiaohui X; Lu, Chafen C; Springer, Timothy A TA

Publication Date: 2009-06-09

Variant appearance in text: VWF: E1638K

PubMed Link: 19470641

Variant Present in the following documents:

• Main text

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