Publications:

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Mechano-covalent protection of coagulation factor VIII by von Willebrand factor.

Blood Advances

Butera, Diego D; Wang, Haoqing Jerry HJ; Woon, Heng-Giap HG; Zhao, Yunduo Charles YC; Ju, Lining Arnold Arnold LAA; Hogg, Philip P

Publication Date: 2022-10-14

Variant appearance in text: VWF: C1225G

PubMed Link: 36240294

Variant Present in the following documents:

• Main text
• main.pdf
• BLOODA_ADV-2022-008650-mmc1.pdf

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Laboratory assays of VWF activity and use of desmopressin trials in the diagnosis of VWD: a systematic review and meta-analysis.

Blood Advances

Kalot, Mohamad A MA; Husainat, Nedaa N; Abughanimeh, Omar O; Diab, Osama O; El Alayli, Abdallah A; Tayiem, Sammy S; Madoukh, Bader B; Dimassi, Ahmad A; Qureini, Aref A; Ameer, Barbara B; Eikenboom, Jeroen J; Giraud, Nicolas N; Haberichter, Sandra S; Jacobs-Pratt, Vicky V; Konkle, Barbara A BA; McRae, Simon S; Montgomery, Robert R; O'Donnell, James S JS; Brignardello-Petersen, Romina R; Flood, Veronica V; Connell, Nathan T NT; James, Paula P; Mustafa, Reem A RA

Publication Date: 2022-06-28

Variant appearance in text: VWF: C1225G

PubMed Link: 35192687

Variant Present in the following documents:

• advancesADV2021005431C-suppl1.pdf

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Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort.

Thrombosis And Haemostasis

Hampshire, Daniel J DJ; Abuzenadah, Adel M AM; Cartwright, Ashley A; Al-Shammari, Nawal S NS; Coyle, Rachael E RE; Eckert, Michaela M; Al-Buhairan, Ahlam M AM; Messenger, Sarah L SL; Budde, Ulrich U; Gürsel, Türkiz T; Ingerslev, Jørgen J; Peake, Ian R IR; Goodeve, Anne C AC

Publication Date: 2013-08

Variant appearance in text: VWF: 3673T>G; C1225G

PubMed Link: 23702511

Variant Present in the following documents:

• Main text

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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: Cys1225Gly

PubMed Link: 22207689

Variant Present in the following documents:

• Main text

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Functional architecture of Weibel-Palade bodies.

Blood

Valentijn, Karine M KM; Sadler, J Evan JE; Valentijn, Jack A JA; Voorberg, Jan J; Eikenboom, Jeroen J

Publication Date: 2011-05-12

Variant appearance in text: VWF: C1225G

PubMed Link: 21266719

Variant Present in the following documents:

• Main text

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Genetic alteration of the D2 domain abolishes von Willebrand factor multimerization and trafficking into storage.

Journal Of Thrombosis And Haemostasis : Jth

Haberichter, S L SL; Allmann, A M AM; Jozwiak, M A MA; Montgomery, R R RR; Gill, J C JC

Publication Date: 2009-04

Variant appearance in text: VWF: C1225G

PubMed Link: 19192112

Variant Present in the following documents:

• Main text

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