Publications:

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Plasma Clearance of Coagulation Factor VIII and Extension of Its Half-Life for the Therapy of Hemophilia A: A Critical Review of the Current State of Research and Practice.

International Journal Of Molecular Sciences

Sarafanov, Andrey G AG

Publication Date: 2023-05-11

Variant appearance in text: VWF: R1306Q

PubMed Link: 37239930

Variant Present in the following documents:

• ijms-24-08584.pdf

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Macrophage Galactose Lectin Contributes to the Regulation of FVIII (Factor VIII) Clearance in Mice.

Arteriosclerosis, Thrombosis, And Vascular Biology

Ward, Soracha E SE; Guest, Thomas T; Byrne, Ciara C; Lopes, Patricia P; O'Sullivan, Jamie M JM; Doherty, Dearbhla D; O'Connell, David D; Gutierrez Llaneza, Sara S; Chion, Alain A; Fazavana, Judicael J; Fallon, Padraic G PG; Preston, Roger J S RJS; Johnsen, Jill M JM; Pipe, Steven W SW; Turecek, Peter L PL; O'Donnell, James S JS; ,

Publication Date: 2023-02-02

Variant appearance in text: VWF: R1306Q

PubMed Link: 36727518

Variant Present in the following documents:

• atv-43-540.pdf

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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: R1306Q

PubMed Link: 35772170

Variant Present in the following documents:

• advancesADV2022007805.pdf

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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: R1306Q

PubMed Link: 35755187

Variant Present in the following documents:

• CB-003-D2CB00010E.pdf

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The Power of Touch: Type 4 Pili, the von Willebrand A Domain, and Surface Sensing by Pseudomonas aeruginosa.

Journal Of Bacteriology

Webster, Shanice S SS; Wong, Gerard C L GCL; O'Toole, George A GA

Publication Date: 2022-06-21

Variant appearance in text: VWF: R1306Q

PubMed Link: 35612303

Variant Present in the following documents:

• Main text
• jb.00084-22.pdf

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The p.P1127S pathogenic variant lowers von Willebrand factor levels through higher affinity for the macrophagic scavenger receptor LRP1: Clinical phenotype and pathogenic mechanisms.

Journal Of Thrombosis And Haemostasis : Jth

Sacco, Monica M; Lancellotti, Stefano S; Branchini, Alessio A; Tardugno, Maira M; Testa, Maria Francesca MF; Lunghi, Barbara B; Bernardi, Francesco F; Pinotti, Mirko M; Giusti, Betti B; Castaman, Giancarlo G; De Cristofaro, Raimondo R

Publication Date: 2022-08

Variant appearance in text: VWF: R1306Q

PubMed Link: 35596664

Variant Present in the following documents:

• Main text
• JTH-20-1818.pdf

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Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2.

Blood Advances

Seidizadeh, Omid O; Baronciani, Luciano L; Pagliari, Maria Teresa MT; Cozzi, Giovanna G; Colpani, Paola P; Cairo, Andrea A; Siboni, Simona Maria SM; Biguzzi, Eugenia E; Peyvandi, Flora F

Publication Date: 2022-07-12

Variant appearance in text: VWF: R1306Q

PubMed Link: 35452508

Variant Present in the following documents:

• advancesADV2022007216.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: R1306Q

PubMed Link: 33763999

Variant Present in the following documents:

• 107668.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: R1306Q

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

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Analytical characterization and reference interval of an enzyme-linked immunosorbent assay for active von Willebrand factor.

Plos One

van der Vorm, Lisa N LN; Li, Li L; Huskens, Dana D; Chayouâ, Walid W; Kelchtermans, Hilde H; de Groot, Philip G PG; Roest, Mark M; Remijn, Jasper A JA; de Laat, Bas B

Publication Date: 2019

Variant appearance in text: VWF: R1306Q

PubMed Link: 30759116

Variant Present in the following documents:

• Main text
• pone.0211961.pdf

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Role of multimeric analysis of von Willebrand factor (VWF) in von Willebrand disease (VWD) diagnosis: Lessons from the PCM-EVW-ES Spanish project.

Plos One

Pérez-Rodríguez, Almudena A; Batlle, Javier J; Corrales, Irene I; Borràs, Nina N; Rodríguez-Trillo, Ángela Á; Lourés, Esther E; Cid, Ana Rosa AR; Bonanad, Santiago S; Cabrera, Noelia N; Moret, Andrés A; Parra, Rafael R; Mingot-Castellano, María Eva ME; Navarro, Nira N; Altisent, Carmen C; Pérez-Montes, Rocío R; Marcellini, Shally S; Moreto, Ana A; Herrero, Sonia S; Soto, Inmaculada I; Fernández Mosteirín, Nuria N; Jiménez-Yuste, Víctor V; Alonso, Nieves N; de Andrés Jacob, Aurora A; Fontanes, Emilia E; Campos, Rosa R; Paloma, María José MJ; Bermejo, Nuria N; Berrueco, Rubén R; Mateo, José J; Arribalzaga, Karmele K; Marco, Pascual P; Palomo, Ángeles Á; Castro Quismondo, Nerea N; Iñigo, Belén B; Nieto, María Del Mar MDM; Vidal, Rosa R; Martínez, María Paz MP; Aguinaco, Reyes R; Tenorio, Maria M; Ferreiro, María M; García-Frade, Javier J; Rodríguez-Huerta, Ana María AM; Cuesta, Jorge J; Rodríguez-González, Ramón R; García-Candel, Faustino F; Dobón, Manuela M; Aguilar, Carlos C; Batlle, Fernando F; Vidal, Francisco F; López-Fernández, María Fernanda MF

Publication Date: 2018

Variant appearance in text: VWF: Arg1306Gln

PubMed Link: 29924855

Variant Present in the following documents:

• Main text
• pone.0197876.pdf

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Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients.

Haematologica

Borràs, Nina N; Batlle, Javier J; Pérez-Rodríguez, Almudena A; López-Fernández, María Fernanda MF; Rodríguez-Trillo, Ángela Á; Lourés, Esther E; Cid, Ana Rosa AR; Bonanad, Santiago S; Cabrera, Noelia N; Moret, Andrés A; Parra, Rafael R; Mingot-Castellano, María Eva ME; Balda, Ignacia I; Altisent, Carme C; Pérez-Montes, Rocío R; Fisac, Rosa María RM; Iruín, Gemma G; Herrero, Sonia S; Soto, Inmaculada I; de Rueda, Beatriz B; Jiménez-Yuste, Víctor V; Alonso, Nieves N; Vilariño, Dolores D; Arija, Olga O; Campos, Rosa R; Paloma, María José MJ; Bermejo, Nuria N; Berrueco, Rubén R; Mateo, José J; Arribalzaga, Karmele K; Marco, Pascual P; Palomo, Ángeles Á; Sarmiento, Lizheidy L; Iñigo, Belén B; Nieto, María Del Mar MDM; Vidal, Rosa R; Martínez, María Paz MP; Aguinaco, Reyes R; César, Jesús María JM; Ferreiro, María M; García-Frade, Javier J; Rodríguez-Huerta, Ana María AM; Cuesta, Jorge J; Rodríguez-González, Ramón R; García-Candel, Faustino F; Cornudella, Rosa R; Aguilar, Carlos C; Vidal, Francisco F; Corrales, Irene I

Publication Date: 2017-12

Variant appearance in text: VWF: 3917G>A; Arg1306Gln

PubMed Link: 28971901

Variant Present in the following documents:

• 2017.168765.BORRAS_SUPPL.pdf

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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: R1306Q

PubMed Link: 28533135

Variant Present in the following documents:

• Main text

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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: R1306Q

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: R1306Q

PubMed Link: 27761512

Variant Present in the following documents:

• main.pdf

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A genetically-engineered von Willebrand disease type 2B mouse model displays defects in hemostasis and inflammation.

Scientific Reports

Adam, Frédéric F; Casari, Caterina C; Prévost, Nicolas N; Kauskot, Alexandre A; Loubière, Cécile C; Legendre, Paulette P; Repérant, Christelle C; Baruch, Dominique D; Rosa, Jean-Philippe JP; Bryckaert, Marijke M; de Groot, Philip G PG; Christophe, Olivier D OD; Lenting, Peter J PJ; Denis, Cécile V CV

Publication Date: 2016-05-23

Variant appearance in text: VWF: R1306Q

PubMed Link: 27212476

Variant Present in the following documents:

• srep26306-s1.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: R1306Q

PubMed Link: 26677223

Variant Present in the following documents:

• Main text

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Force-induced on-rate switching and modulation by mutations in gain-of-function von Willebrand diseases.

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

Kim, Jongseong J; Hudson, Nathan E NE; Springer, Timothy A TA

Publication Date: 2015-04-14

Variant appearance in text: VWF: R1306Q

PubMed Link: 25810255

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: R1306Q

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: R1306Q

PubMed Link: 24391089

Variant Present in the following documents:

• Main text

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Von Willebrand Factor Abnormalities Studied in the Mouse Model: What We Learned about VWF Functions.

Mediterranean Journal Of Hematology And Infectious Diseases

Casari, Caterina C; Lenting, Peter J PJ; Christophe, Olivier D OD; Denis, Cécile V CV

Publication Date: 2013

Variant appearance in text: VWF: R1306Q

PubMed Link: 23936618

Variant Present in the following documents:

• Main text
• mjhid-5-1-e2013047.pdf

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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: R1306Q

PubMed Link: 20713003

Variant Present in the following documents:

• Main text

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Factor VIII and platelets synergistically accelerate cleavage of von Willebrand factor by ADAMTS13 under fluid shear stress.

The Journal Of Biological Chemistry

Skipwith, Christopher G CG; Cao, Wenjing W; Zheng, X Long XL

Publication Date: 2010-09-10

Variant appearance in text: VWF: R1306Q

PubMed Link: 20605782

Variant Present in the following documents:

• Main text

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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: R1306Q

PubMed Link: 20602356

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: R1306Q

PubMed Link: 19619477

Variant Present in the following documents:

• Main text

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