VWF c.4348_4349delinsGA ;(p.R1450E)

Variant ID: 12-6128235-CT-TC

NM_000552.3(VWF):c.4348_4349delinsGA;(p.R1450E)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


The N-terminal autoinhibitory module of the A1 domain in von Willebrand factor stabilizes the mechanosensor catch bond.

Rsc Chemical Biology
Zhao, Yunduo Charles YC; Wang, Haoqing H; Wang, Yao Y; Lou, Jizhong J; Ju, Lining Arnold LA
Publication Date: 2022-06-08

Variant appearance in text: VWF: R1450E
PubMed Link: 35755187
Variant Present in the following documents:
  • CB-003-D2CB00010E.pdf
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Shear Stress Accumulation Enhances von Willebrand Factor-Induced Platelet P-Selectin Translocation in a PI3K/Akt Pathway-Dependent Manner.

Frontiers In Cell And Developmental Biology
Fang, Jinhua J; Sun, Xiaoxi X; Liu, Silu S; Yang, Pu P; Lin, Jiangguo J; Feng, Jingjing J; Cruz, Miguel A MA; Dong, Jing-Fei JF; Fang, Ying Y; Wu, Jianhua J
Publication Date: 2021

Variant appearance in text: VWF: R1450E
PubMed Link: 34141704
Variant Present in the following documents:
  • Main text
  • fcell-09-642108.pdf
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Sialylation on O-linked glycans protects von Willebrand factor from macrophage galactose lectin-mediated clearance.

Haematologica
Ward, Soracha E SE; O'Sullivan, Jamie M JM; Moran, Alan B AB; Spencer, Daniel I R DIR; Gardner, Richard A RA; Sharma, Jyotika J; Fazavana, Judicael J; Monopoli, Marco M; McKinnon, Thomas A J TAJ; Chion, Alain A; Haberichter, Sandra S; O'Donnell, James S JS
Publication Date: 2022-03-01

Variant appearance in text: VWF: R1450E
PubMed Link: 33763999
Variant Present in the following documents:
  • Main text
  • 107668.pdf
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Cooperative unfolding of distinctive mechanoreceptor domains transduces force into signals.

Elife
Ju, Lining L; Chen, Yunfeng Y; Xue, Lingzhou L; Du, Xiaoping X; Zhu, Cheng C
Publication Date: 2016-07-19

Variant appearance in text: VWF: R1450E
PubMed Link: 27434669
Variant Present in the following documents:
  • Main text
  • elife-15447.pdf
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Free hemoglobin increases von Willebrand factor-mediated platelet adhesion in vitro: implications for circulatory devices.

Blood
Da, Qi Q; Teruya, Miho M; Guchhait, Prasenjit P; Teruya, Jun J; Olson, John S JS; Cruz, Miguel A MA
Publication Date: 2015-11-12

Variant appearance in text: VWF: R1450E
PubMed Link: 26307534
Variant Present in the following documents:
  • Main text
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Structural origins of misfolding propensity in the platelet adhesive von Willebrand factor A1 domain.

Biophysical Journal
Zimmermann, Michael T MT; Tischer, Alexander A; Whitten, Steven T ST; Auton, Matthew M
Publication Date: 2015-07-21

Variant appearance in text: VWF: R1450E
PubMed Link: 26200876
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: R1450E
PubMed Link: 25293780
Variant Present in the following documents:
  • Main text
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Platelet adhesion involves a novel interaction between vimentin and von Willebrand factor under high shear stress.

Blood
Da, Qi Q; Behymer, Molly M; Correa, Juliana I JI; Vijayan, K Vinod KV; Cruz, Miguel A MA
Publication Date: 2014-04-24

Variant appearance in text: VWF: R1450E
PubMed Link: 24642750
Variant Present in the following documents:
  • Main text
View BVdb publication page



The N-terminal flanking region of the A1 domain regulates the force-dependent binding of von Willebrand factor to platelet glycoprotein Ibα.

The Journal Of Biological Chemistry
Ju, Lining L; Dong, Jing-Fei JF; Cruz, Miguel A MA; Zhu, Cheng C
Publication Date: 2013-11-08

Variant appearance in text: VWF: R1450E
PubMed Link: 24062306
Variant Present in the following documents:
  • Main text
View BVdb publication page



An HMM-based algorithm for evaluating rates of receptor-ligand binding kinetics from thermal fluctuation data.

Bioinformatics (Oxford, England)
Ju, Lining L; Wang, Yijie Dylan YD; Hung, Ying Y; Wu, Chien-Fu Jeff CF; Zhu, Cheng C
Publication Date: 2013-06-15

Variant appearance in text: VWF: R1450E
PubMed Link: 23599504
Variant Present in the following documents:
  • Main text
View BVdb publication page



The catch bond mechanism between von Willebrand factor and platelet surface receptors investigated by molecular dynamics simulations.

Proteins
Interlandi, Gianluca G; Thomas, Wendy W
Publication Date: 2010-08-15

Variant appearance in text: VWF: R1450E
PubMed Link: 20602356
Variant Present in the following documents:
  • Main text
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Destabilization of the A1 domain in von Willebrand factor dissociates the A1A2A3 tri-domain and provokes spontaneous binding to glycoprotein Ibalpha and platelet activation under shear stress.

The Journal Of Biological Chemistry
Auton, Matthew M; Sowa, Katie E KE; Smith, Scott M SM; Sedlák, Erik E; Vijayan, K Vinod KV; Cruz, Miguel A MA
Publication Date: 2010-07-23

Variant appearance in text: VWF: R1450E
PubMed Link: 20498367
Variant Present in the following documents:
  • Main text
View BVdb publication page