Publications:

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Phenotypic and Genotypic Characterization of von Willebrand Factor Gene (Exon 18 and 20) in Saudi Healthy Individuals.

Medical Archives (Sarajevo, Bosnia And Herzegovina)

Alzahrani, Faisal M FM; Aldossary, Nemat N; Hassan, Fathelrahman Mahdi FM

Publication Date: 2020-10

Variant appearance in text: VWF: 2344C>T; Arg782Trp; rs61748471

PubMed Link: 33424085

Variant Present in the following documents:

• Main text
• medarch-74-337.pdf

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: VWF: R782W

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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Factor VIII binding affects the mechanical unraveling of the A2 domain of von Willebrand factor.

Journal Of Thrombosis And Haemostasis : Jth

Cao, Wenpeng W; Cao, Wenjing W; Zhang, Wei W; Zheng, X Long XL; Zhang, X Frank XF

Publication Date: 2020-09

Variant appearance in text: VWF: R782W

PubMed Link: 32544272

Variant Present in the following documents:

• Main text

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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: 2344C>T; Arg782Trp; rs61748471

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: VWF: 2344C>T; rs61748471

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

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Mutations in the D'D3 region of VWF traditionally associated with type 1 VWD lead to quantitative and qualitative deficiencies of VWF.

Thrombosis Research

White-Adams, Tara C TC; Ng, Christopher J CJ; Jacobi, Paula M PM; Haberichter, Sandra L SL; Di Paola, Jorge A JA

Publication Date: 2016-09

Variant appearance in text: VWF: R782W

PubMed Link: 27533707

Variant Present in the following documents:

• Main text

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Solution structure of the major factor VIII binding region on von Willebrand factor.

Blood

Shiltagh, Nuha N; Kirkpatrick, John J; Cabrita, Lisa D LD; McKinnon, Tom A J TA; Thalassinos, Konstantinos K; Tuddenham, Edward G D EG; Hansen, D Flemming DF

Publication Date: 2014-06-26

Variant appearance in text: VWF: R782W

PubMed Link: 24700780

Variant Present in the following documents:

• Main text

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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: Arg782Trp

PubMed Link: 23690449

Variant Present in the following documents:

• Main text

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Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes.

Journal Of Thrombosis And Haemostasis : Jth

Wang, Q Y QY; Song, J J; Gibbs, R A RA; Boerwinkle, E E; Dong, J F JF; Yu, F L FL

Publication Date: 2013-02

Variant appearance in text: VWF: R782W

PubMed Link: 23216583

Variant Present in the following documents:

• Main text

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VWF mutations and new sequence variations identified in healthy controls are more frequent in the African-American population.

Blood

Bellissimo, Daniel B DB; Christopherson, Pamela A PA; Flood, Veronica H VH; Gill, Joan Cox JC; Friedman, Kenneth D KD; Haberichter, Sandra L SL; Shapiro, Amy D AD; Abshire, Thomas C TC; Leissinger, Cindy C; Hoots, W Keith WK; Lusher, Jeanne M JM; Ragni, Margaret V MV; Montgomery, Robert R RR

Publication Date: 2012-03-01

Variant appearance in text: VWF: R782W

PubMed Link: 22197721

Variant Present in the following documents:

• Main text

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