Publications:

---

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: 8317T>C; Cys2773Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Fibronectin binding to von Willebrand factor occurs via the A1 domain.

Research And Practice In Thrombosis And Haemostasis

Keesler, Daniel A DA; Slobodianuk, Tricia L TL; Kochelek, Caroline E CE; Skaer, Chad W CW; Haberichter, Sandra L SL; Flood, Veronica H VH

Publication Date: 2021-06

Variant appearance in text: VWF: C2773R

PubMed Link: 34136746

Variant Present in the following documents:

• Main text
• RTH2-5-e12534.pdf

View BVdb publication page

---

Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: VWF: 8317T>C; Cys2773Arg

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 4
• aba1773_Data_file_S1.xlsx, sheet 2
• aba1773_Data_file_S1.xlsx, sheet 3

View BVdb publication page

---

von Willebrand factor binding to myosin assists in coagulation.

Blood Advances

Flood, Veronica H VH; Slobodianuk, Tricia L TL; Keesler, Daniel D; Lohmeier, Hannah K HK; Fahs, Scot S; Zhang, Liyun L; Simpson, Pippa P; Montgomery, Robert R RR

Publication Date: 2020-01-14

Variant appearance in text: VWF: C2773R

PubMed Link: 31935285

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Advancing multimer analysis of von Willebrand factor by single-molecule AFM imaging.

Plos One

Löf, Achim A; König, Gesa G; Schneppenheim, Sonja S; Schneppenheim, Reinhard R; Benoit, Martin M; Budde, Ulrich U; Müller, Jochen P JP; Brehm, Maria A MA

Publication Date: 2019

Variant appearance in text: VWF: Cys2773Arg

PubMed Link: 30645640

Variant Present in the following documents:

• Main text
• pone.0210963.pdf

View BVdb publication page

---

Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease.

Molecular & Cellular Proteomics : Mcp

Torres, Matthew P MP; Dewhurst, Henry H; Sundararaman, Niveda N

Publication Date: 2016-11

Variant appearance in text: VWF: 8317T>C; Cys2773Arg

PubMed Link: 27697855

Variant Present in the following documents:

• 10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 5

View BVdb publication page

---

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: C2773R

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

View BVdb publication page

---

Highly reinforced structure of a C-terminal dimerization domain in von Willebrand factor.

Blood

Zhou, Yan-Feng YF; Springer, Timothy A TA

Publication Date: 2014-03-20

Variant appearance in text: VWF: C2773R

PubMed Link: 24394662

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Biogenesis of Weibel-Palade bodies in von Willebrand's disease variants with impaired von Willebrand factor intrachain or interchain disulfide bond formation.

Haematologica

Wang, Jiong-Wei JW; Groeneveld, Dafna J DJ; Cosemans, Guy G; Dirven, Richard J RJ; Valentijn, Karine M KM; Voorberg, Jan J; Reitsma, Pieter H PH; Eikenboom, Jeroen J

Publication Date: 2012-06

Variant appearance in text: VWF: Cys2773Arg

PubMed Link: 22207689

Variant Present in the following documents:

• Main text

View BVdb publication page

---