Publications:

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A comparative study in patients with type 2 von Willebrand disease using 4 different platelet-dependent von Willebrand factor assays.

Research And Practice In Thrombosis And Haemostasis

Colpani, Paola P; Baronciani, Luciano L; Stufano, Francesca F; Cozzi, Giovanna G; Boscarino, Marco M; Pagliari, Maria Teresa MT; Biguzzi, Eugenia E; Peyvandi, Flora F

Publication Date: 2023-03

Variant appearance in text: VWF: Val1316Met

PubMed Link: 37215093

Variant Present in the following documents:

• Main text
• main.pdf

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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: 3946G>A; Val1316Met

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: V1316M

PubMed Link: 36727518

Variant Present in the following documents:

• atv-43-540.pdf

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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: 3946G>A; Val1316Met

PubMed Link: 36299619

Variant Present in the following documents:

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

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Origin and timing of de novo variants implicated in type 2 von Willebrand disease.

Journal Of Cellular And Molecular Medicine

Chen, Ming M; Shen, Ming-Ching MC; Chang, Shun-Ping SP; Ma, Gwo-Chin GC; Huang, Ying-Chih YC; Lin, Ching-Yeh CY

Publication Date: 2022-11

Variant appearance in text: VWF: Val1316Met

PubMed Link: 36226571

Variant Present in the following documents:

• JCMM-26-5403.pdf

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Structures of VWF tubules before and after concatemerization reveal a mechanism of disulfide bond exchange.

Blood

Anderson, Jacob R JR; Li, Jing J; Springer, Timothy A TA; Brown, Alan A

Publication Date: 2022-09-22

Variant appearance in text: VWF: V1316M

PubMed Link: 35776905

Variant Present in the following documents:

• bloodBLD2022016467-suppl1.pdf
• 10.1182-2022016467_bloodbld2022016467-suppl1.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: V1316M

PubMed Link: 35772170

Variant Present in the following documents:

• Main text
• advancesADV2022007805.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: V1316M

PubMed Link: 35596664

Variant Present in the following documents:

• 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: Val1316Met

PubMed Link: 35452508

Variant Present in the following documents:

• Main text
• advancesADV2022007216.pdf

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Reevaluation of von Willebrand disease diagnosis in a Croatian paediatric cohort combining bleeding scores, phenotypic laboratory assays and next generation sequencing: a pilot study.

Biochemia Medica

Lapić, Ivana I; Radić Antolic, Margareta M; Dejanović Bekić, Sara S; Coen-Herak, Désirée D; Bilić, Ernest E; Rogić, Dunja D; Zadro, Renata R

Publication Date: 2022-02-15

Variant appearance in text: VWF: 3946G>A; Val1316Met

PubMed Link: 35210927

Variant Present in the following documents:

• Main text
• bm-32-1-010707.pdf

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A thrombopoietin receptor agonist to rescue an unusual platelet transfusion-induced reaction in a p.V1316M-associated von Willebrand disease type 2B patient.

Therapeutic Advances In Hematology

Casari, Caterina C; Favier, Remi R; Legendre, Paulette P; Kauskot, Alexandre A; Adam, Frederic F; Picard, Veronique V; Lenting, Peter T PT; Denis, Cecile V CV; Proulle, Valerie V

Publication Date: 2022

Variant appearance in text: VWF: V1316M

PubMed Link: 35186246

Variant Present in the following documents:

• Main text
• 10.1177_20406207221076812.pdf

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2B von Willebrand disease diagnosis: Considerations reflecting on 2021 multisociety guidelines.

Research And Practice In Thrombosis And Haemostasis

Othman, Maha M; Favaloro, Emmanuel J EJ

Publication Date: 2021-12

Variant appearance in text: VWF: V1316M

PubMed Link: 34977447

Variant Present in the following documents:

• RTH2-5-e12635.pdf

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Platelet dysfunction in platelet-type von Willebrand disease due to the constitutive triggering of the Lyn-PECAM1 inhibitory pathway.

Haematologica

Bury, Loredana L; Falcinelli, Emanuela E; Mezzasoma, Anna Maria AM; Guglielmini, Giuseppe G; Momi, Stefania S; Gresele, Paolo P

Publication Date: 2022-07-01

Variant appearance in text: VWF: V1316M

PubMed Link: 34407603

Variant Present in the following documents:

• Main text
• 1071643.pdf

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GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.

Journal Of Thrombosis And Haemostasis : Jth

Megy, Karyn K; Downes, Kate K; Morel-Kopp, Marie-Christine MC; Bastida, José M JM; Brooks, Shannon S; Bury, Loredana L; Leinoe, Eva E; Gomez, Keith K; Morgan, Neil V NV; Othman, Maha M; Ouwehand, Willem H WH; Perez Botero, Juliana J; Rivera, José J; Schulze, Harald H; Trégouët, David-Alexandre DA; Freson, Kathleen K

Publication Date: 2021-10

Variant appearance in text: VWF: 3946G>A; Val1316Met

PubMed Link: 34355501

Variant Present in the following documents:

• JTH-19-2612-s004.xlsx, sheet 1

View BVdb publication page

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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: V1316M

PubMed Link: 34136746

Variant Present in the following documents:

• Main text
• RTH2-5-e12534.pdf

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Resolving Differential Diagnostic Problems in von Willebrand Disease, in Fibrinogen Disorders, in Prekallikrein Deficiency and in Hereditary Hemorrhagic Telangiectasia by Next-Generation Sequencing.

Life (Basel, Switzerland)

Gindele, Réka R; Kerényi, Adrienne A; Kállai, Judit J; Pfliegler, György G; Schlammadinger, Ágota Á; Szegedi, István I; Major, Tamás T; Szabó, Zsuzsanna Z; Bagoly, Zsuzsa Z; Kiss, Csongor C; Kappelmayer, János J; Bereczky, Zsuzsanna Z

Publication Date: 2021-03-05

Variant appearance in text: VWF: 3946G>A; Val1316Met

PubMed Link: 33807613

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: V1316M

PubMed Link: 33763999

Variant Present in the following documents:

• Main text
• 107668.pdf
• 2020_274720_WARD_SUPPL.pdf

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Platelet desialylation and TFH cells-the novel pathway of immune thrombocytopenia.

Experimental Hematology & Oncology

Chen, Yuwen Y; Hu, Jianda J; Chen, Yingyu Y

Publication Date: 2021-03-15

Variant appearance in text: VWF: V1316M

PubMed Link: 33722280

Variant Present in the following documents:

• Main text
• 40164_2021_Article_214.pdf

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Measuring beta-galactose exposure on platelets: Standardization and healthy reference values.

Research And Practice In Thrombosis And Haemostasis

Lasne, Dominique D; Pascreau, Tiffany T; Darame, Sadyo S; Bourrienne, Marie-Charlotte MC; Tournoux, Peggy P; Philippe, Aurélien A; Ziachahabi, Sara S; Suarez, Felipe F; Marcais, Ambroise A; Dupont, Annabelle A; Denis, Cécile V CV; Kauskot, Alexandre A; Borgel, Delphine D

Publication Date: 2020-07

Variant appearance in text: VWF: V1316M

PubMed Link: 33134771

Variant Present in the following documents:

• Main text
• RTH2-4-813.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: V1316M

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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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: Val1316Met

PubMed Link: 32864553

Variant Present in the following documents:

• RTH2-4-1024-s004.xlsx, sheet 1

View BVdb publication page

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Case Report: An Infant with Severe Thrombocytopenia Diagnosed with Type 2B von Willebrand Disease Due To a De Novo p.Val1316Met Mutation

Turkish Journal Of Haematology : Official Journal Of Turkish Society Of Haematology

Fan, Junjie J; Ling, Jing J; Zhou, Huifeng H; He, Jie J; Hu, Shaoyan S

Publication Date: 2020-11-19

Variant appearance in text: VWF: 3946G>A; Val1316Met; rs61749397

PubMed Link: 32618441

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comparison of von Willebrand factor platelet-binding activity assays: ELISA overreads type 2B with loss of HMW multimers.

Journal Of Thrombosis And Haemostasis : Jth

Szederjesi, Attila A; Baronciani, Luciano L; Budde, Ulrich U; Castaman, Giancarlo G; Colpani, Paola P; Lawrie, Andrew S AS; Liu, Yuan Y; Montgomery, Robert R; Peyvandi, Flora F; Schneppenheim, Reinhard R; Patzke, Jürgen J; Bodó, Imre I

Publication Date: 2020-10

Variant appearance in text: VWF: V1316M

PubMed Link: 32573891

Variant Present in the following documents:

• Main text

View BVdb publication page

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Inherited thrombocytopenias: history, advances and perspectives.

Haematologica

Nurden, Alan T AT; Nurden, Paquita P

Publication Date: 2020-08

Variant appearance in text: VWF: V1316M

PubMed Link: 32527953

Variant Present in the following documents:

• Main text
• 1052004.pdf

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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: V1316M

PubMed Link: 31935285

Variant Present in the following documents:

• Main text

View BVdb publication page

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Evidence for the Misfolding of the A1 Domain within Multimeric von Willebrand Factor in Type 2 von Willebrand Disease.

Journal Of Molecular Biology

Tischer, Alexander A; Brehm, Maria A MA; Machha, Venkata R VR; Moon-Tasson, Laurie L; Benson, Linda M LM; Nelton, Katelynn J KJ; Leger, Rachel R RR; Obser, Tobias T; Martinez-Vargas, Marina M; Whitten, Steven T ST; Chen, Dong D; Pruthi, Rajiv K RK; Bergen, H Robert HR; Cruz, Miguel A MA; Schneppenheim, Reinhard R; Auton, Matthew M

Publication Date: 2020-01-17

Variant appearance in text: VWF: V1316M

PubMed Link: 31628947

Variant Present in the following documents:

• Main text

View BVdb publication page

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Estimating dispensable content in the human interactome.

Nature Communications

Ghadie, Mohamed M; Xia, Yu Y

Publication Date: 2019-07-19

Variant appearance in text: VWF: 3946G>A; Val1316Met

PubMed Link: 31324802

Variant Present in the following documents:

• 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4
• 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4

View BVdb publication page

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Hyperactive GPIb-von Willebrand factor interaction as cause of thrombocytopenia: altered platelet formation versus clearance.

Haematologica

Freson, Kathleen K

Publication Date: 2019-07

Variant appearance in text: VWF: V1316M

PubMed Link: 31257206

Variant Present in the following documents:

• Main text

View BVdb publication page

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Shear stress and platelet-induced tensile forces regulate ADAMTS13-localization within the platelet thrombus.

Research And Practice In Thrombosis And Haemostasis

Shida, Yasuaki Y; Swystun, Laura L LL; Brown, Christine C; Mewburn, Jeffrey J; Nesbitt, Kate K; Danisment, Ozge O; Riches, Jonathan Jacob JJ; Hough, Christine C; Lillicrap, David D

Publication Date: 2019-04

Variant appearance in text: VWF: V1316M

PubMed Link: 31011709

Variant Present in the following documents:

• Main text
• RTH2-3-254.pdf

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Protein kinase C signaling dysfunction in von Willebrand disease (p.V1316M) type 2B platelets.

Blood Advances

Casari, Caterina C; Paul, David S DS; Susen, Sophie S; Lavenu-Bombled, Cécile C; Harroche, Annie A; Piatt, Raymond R; Poe, Kathryn O KO; Lee, Robert H RH; Bryckaert, Marijke M; Christophe, Olivier D OD; Lenting, Peter J PJ; Denis, Cécile V CV; Bergmeier, Wolfgang W

Publication Date: 2018-06-26

Variant appearance in text: VWF: V1316M

PubMed Link: 29925524

Variant Present in the following documents:

• Main text

View BVdb publication page

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Macrophage scavenger receptor SR-AI contributes to the clearance of von Willebrand factor.

Haematologica

Wohner, Nikolett N; Muczynski, Vincent V; Mohamadi, Amel A; Legendre, Paulette P; Proulle, Valérie V; Aymé, Gabriel G; Christophe, Olivier D OD; Lenting, Peter J PJ; Denis, Cécile V CV; Casari, Caterina C

Publication Date: 2018-04

Variant appearance in text: VWF: V1316M

PubMed Link: 29326120

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 3946G>A; Val1316Met

PubMed Link: 28971901

Variant Present in the following documents:

• 2017.168765.BORRAS_SUPPL.pdf

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Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: VWF: V1316M

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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A discontinuous autoinhibitory module masks the A1 domain of von Willebrand factor.

Journal Of Thrombosis And Haemostasis : Jth

Deng, W W; Wang, Y Y; Druzak, S A SA; Healey, J F JF; Syed, A K AK; Lollar, P P; Li, R R

Publication Date: 2017-09

Variant appearance in text: VWF: V1316M

PubMed Link: 28692141

Variant Present in the following documents:

• Main text

View BVdb publication page

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Type 2B von Willebrand disease with or without large multimers: A distinction of the two sides of the disorder is long overdue.

Plos One

Casonato, Alessandra A; Daidone, Viviana V; Galletta, Eva E; Bertomoro, Antonella A

Publication Date: 2017

Variant appearance in text: VWF: V1316M

PubMed Link: 28640903

Variant Present in the following documents:

• Main text
• pone.0179566.pdf

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Abnormal angiogenesis in blood outgrowth endothelial cells derived from von Willebrand disease patients.

Blood Coagulation & Fibrinolysis : An International Journal In Haemostasis And Thrombosis

Selvam, Soundarya N SN; Casey, Lara J LJ; Bowman, Mackenzie L ML; Hawke, Lindsey G LG; Longmore, Avery J AJ; Mewburn, Jeffrey J; Ormiston, Mark L ML; Archer, Stephen L SL; Maurice, Donald H DH; James, Paula P

Publication Date: 2017-10

Variant appearance in text: VWF: 3946G>A; Val1316Met

PubMed Link: 28362648

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: V1316M

PubMed Link: 27889474

Variant Present in the following documents:

• Main text

View BVdb publication page

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De novo mutation and somatic mosaicism of gene mutation in type 2A, 2B and 2M VWD.

Thrombosis Journal

Shen, Ming-Ching MC; Chen, Ming M; Ma, Gwo-Chin GC; Chang, Shun-Ping SP; Lin, Ching-Yeh CY; Lin, Bo-Do BD; Hsieh, Han-Ni HN

Publication Date: 2016

Variant appearance in text: VWF: Val1316Met

PubMed Link: 27766062

Variant Present in the following documents:

• Main text

View BVdb publication page

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Platelet clearance via shear-induced unfolding of a membrane mechanoreceptor.

Nature Communications

Deng, Wei W; Xu, Yan Y; Chen, Wenchun W; Paul, David S DS; Syed, Anum K AK; Dragovich, Matthew A MA; Liang, Xin X; Zakas, Philip P; Berndt, Michael C MC; Di Paola, Jorge J; Ware, Jerry J; Lanza, Francois F; Doering, Christopher B CB; Bergmeier, Wolfgang W; Zhang, X Frank XF; Li, Renhao R

Publication Date: 2016-09-27

Variant appearance in text: VWF: V1316M

PubMed Link: 27670775

Variant Present in the following documents:

• Main text

View BVdb publication page

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Diagnostic Value of Measuring Platelet Von Willebrand Factor in Von Willebrand Disease.

Plos One

Casonato, Alessandra A; Cattini, Maria Grazia MG; Daidone, Viviana V; Pontara, Elena E; Bertomoro, Antonella A; Prandoni, Paolo P

Publication Date: 2016

Variant appearance in text: VWF: V1316M

PubMed Link: 27532107

Variant Present in the following documents:

• Main text
• pone.0161310.pdf

View BVdb publication page

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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: V1316M

PubMed Link: 27212476

Variant Present in the following documents:

• Main text
• srep26306-s1.pdf
• srep26306.pdf

View BVdb publication page

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Apoptotic Platelet Events Are Not Observed in Severe von Willebrand Disease-Type 2B Mutation p.V1316M.

Plos One

Berrou, Eliane E; Kauskot, Alexandre A; Adam, Frédéric F; Harel, Amélie A; Legendre, Paulette P; Lavenu Bombled, Cécile C; Rothschild, Chantal C; Prevost, Nicolas N; Christophe, Olivier D OD; Lenting, Peter J PJ; Denis, Cécile V CV; Rosa, Jean-Philippe JP; Bryckaert, Marijke M

Publication Date: 2015

Variant appearance in text: VWF: Val1316Met

PubMed Link: 26645283

Variant Present in the following documents:

• Main text
• pone.0143896.pdf

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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: V1316M

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

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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: V1316M

PubMed Link: 26200876

Variant Present in the following documents:

• Main text

View BVdb publication page

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Of von Willebrand factor and platelets.

Cellular And Molecular Life Sciences : Cmls

Bryckaert, Marijke M; Rosa, Jean-Philippe JP; Denis, Cécile V CV; Lenting, Peter J PJ

Publication Date: 2015-01

Variant appearance in text: VWF: V1316M

PubMed Link: 25297919

Variant Present in the following documents:

• Main text
• 18_2014_Article_1743.pdf

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The molecular genetics of von Willebrand disease.

Turkish Journal Of Haematology : Official Journal Of Turkish Society Of Haematology

Berber, Ergül E

Publication Date: 2012-12

Variant appearance in text: VWF: V1316M

PubMed Link: 24385719

Variant Present in the following documents:

• TJH-29-313.pdf

View BVdb publication page

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