Publications:

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Importance of Genotyping in von Willebrand Disease to Elucidate Pathogenic Mechanisms and Variability in Phenotype.

Hemasphere

Atiq, Ferdows F; Boender, Johan J; van Heerde, Waander L WL; Tellez Garcia, Juan M JM; Schoormans, Selene C SC; Krouwel, Sandy S; Cnossen, Marjon H MH; Laros-van Gorkom, Britta A P BAP; de Meris, Joke J; Fijnvandraat, Karin K; van der Bom, Johanna G JG; Meijer, Karina K; van Galen, Karin P M KPM; Eikenboom, Jeroen J; Leebeek, Frank W G FWG

Publication Date: 2022-06

Variant appearance in text: VWF: S2179F

PubMed Link: 35747851

Variant Present in the following documents:

• Main text
• hs9-6-e718.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: S2179F

PubMed Link: 33763999

Variant Present in the following documents:

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

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Genetic Variation in the von Willebrand Factor Gene in Swedish von Willebrand Disease Patients.

Th Open : Companion Journal To Thrombosis And Haemostasis

Manderstedt, Eric E; Lind-Halldén, Christina C; Lethagen, Stefan S; Halldén, Christer C

Publication Date: 2018-01

Variant appearance in text: VWF: S2179F

PubMed Link: 31249928

Variant Present in the following documents:

• Main text
• 10-1055-s-0037-1618571.pdf

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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: S2179F

PubMed Link: 29326120

Variant Present in the following documents:

• Main text

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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: 6536C>T; Ser2179Phe

PubMed Link: 28971901

Variant Present in the following documents:

• 2017.168765.BORRAS_SUPPL.pdf

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von Willebrand factor propeptide: biology and clinical utility.

Blood

Haberichter, Sandra L SL

Publication Date: 2015-10-08

Variant appearance in text: VWF: S2179F

PubMed Link: 26215113

Variant Present in the following documents:

• Main text

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von Willebrand's disease diagnosis and laboratory issues.

Haemophilia : The Official Journal Of The World Federation Of Hemophilia

Castaman, G G; Montgomery, R R RR; Meschengieser, S S SS; Haberichter, S L SL; Woods, A I AI; Lazzari, M A MA

Publication Date: 2010-07

Variant appearance in text: VWF: S2179F

PubMed Link: 20590859

Variant Present in the following documents:

• Main text

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Accelerated clearance alone explains ultra-large multimers in von Willebrand disease Vicenza.

Journal Of Thrombosis And Haemostasis : Jth

Gézsi, A A; Budde, U U; Deák, I I; Nagy, E E; Mohl, A A; Schlammadinger, A A; Boda, Z Z; Masszi, T T; Sadler, J E JE; Bodó, I I

Publication Date: 2010-06

Variant appearance in text: VWF: S2179F

PubMed Link: 20088930

Variant Present in the following documents:

• Main text

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Identification of type 1 von Willebrand disease patients with reduced von Willebrand factor survival by assay of the VWF propeptide in the European study: molecular and clinical markers for the diagnosis and management of type 1 VWD (MCMDM-1VWD).

Blood

Haberichter, Sandra L SL; Castaman, Giancarlo G; Budde, Ulrich U; Peake, Ian I; Goodeve, Anne A; Rodeghiero, Francesco F; Federici, Augusto B AB; Batlle, Javier J; Meyer, Dominique D; Mazurier, Claudine C; Goudemand, Jenny J; Eikenboom, Jeroen J; Schneppenheim, Reinhard R; Ingerslev, Jorgen J; Vorlova, Zdena Z; Habart, David D; Holmberg, Lars L; Lethagen, Stefan S; Pasi, John J; Hill, Frank G H FG; Montgomery, Robert R RR

Publication Date: 2008-05-15

Variant appearance in text: VWF: S2179F

PubMed Link: 18344424

Variant Present in the following documents:

• Main text

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Assay of the von Willebrand factor (VWF) propeptide to identify patients with type 1 von Willebrand disease with decreased VWF survival.

Blood

Haberichter, Sandra L SL; Balistreri, Michael M; Christopherson, Pamela P; Morateck, Patricia P; Gavazova, Stefana S; Bellissimo, Daniel B DB; Manco-Johnson, Marilyn J MJ; Gill, Joan Cox JC; Montgomery, Robert R RR

Publication Date: 2006-11-15

Variant appearance in text: VWF: S2179F

PubMed Link: 16835381

Variant Present in the following documents:

• Main text

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