Publications:

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Multifaceted pathomolecular mechanism of a VWF large deletion involved in the pathogenesis of severe VWD.

Blood Advances

Yadegari, Hamideh H; Jamil, Muhammad Ahmer MA; Müller, Jens J; Marquardt, Natascha N; Rawley, Orla O; Budde, Ulrich U; El-Maarri, Osman O; Lillicrap, David D; Oldenburg, Johannes J

Publication Date: 2022-02-08

Variant appearance in text: VWF: P1127_C1948delinsR

PubMed Link: 34861678

Variant Present in the following documents:

• Main text
• advancesADV2021005895.pdf

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Ex vivo Improvement of a von Willebrand Disease Type 2A Phenotype Using an Allele-Specific Small-Interfering RNA.

Thrombosis And Haemostasis

de Jong, Annika A; Dirven, Richard J RJ; Boender, Johan J; Atiq, Ferdows F; Anvar, Seyed Yahya SY; Leebeek, Frank W G FWG; van Vlijmen, Bart J M BJM; Eikenboom, Jeroen J

Publication Date: 2020-11

Variant appearance in text: VWF: P1127_C1948delinsR

PubMed Link: 32803740

Variant Present in the following documents:

• 10-1055-s-0040-1715442.pdf

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Characterization of large in-frame von Willebrand factor deletions highlights differing pathogenic mechanisms.

Blood Advances

Cartwright, Ashley A; Webster, Simon J SJ; de Jong, Annika A; Dirven, Richard J RJ; Bloomer, Lisa D S LDS; Al-Buhairan, Ahlam M AM; Budde, Ulrich U; Halldén, Christer C; Habart, David D; Goudemand, Jenny J; Peake, Ian R IR; Eikenboom, Jeroen C J JCJ; Goodeve, Anne C AC; Hampshire, Daniel J DJ

Publication Date: 2020-07-14

Variant appearance in text: VWF: 5621_5842del; Arg1819_Cys1948delinsSer

PubMed Link: 32609846

Variant Present in the following documents:

• Main text

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Molecular Mechanisms and Determinants of Innovative Correction Approaches in Coagulation Factor Deficiencies.

International Journal Of Molecular Sciences

Balestra, Dario D; Branchini, Alessio A

Publication Date: 2019-06-21

Variant appearance in text: VWF: P1127_C1948delinsR

PubMed Link: 31234407

Variant Present in the following documents:

• Main text

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Complement Component C3 Binds to the A3 Domain of von Willebrand Factor.

Th Open : Companion Journal To Thrombosis And Haemostasis

Nolasco, Jennifer G JG; Nolasco, Leticia H LH; Da, Qi Q; Cirlos, Sonya S; Ruggeri, Zaverio M ZM; Moake, Joel L JL; Cruz, Miguel A MA

Publication Date: 2018

Variant appearance in text: VWF: R1819_C1948delinsS

PubMed Link: 31080944

Variant Present in the following documents:

• 10-1055-s-0038-1672189.pdf

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Identification and functional analysis of a novel von Willebrand factor mutation in a family with type 2A von Willebrand disease.

Plos One

Dong, Jing J; Zhao, Xiaojuan X; Shi, Sensen S; Ma, Zhenni Z; Liu, Meng M; Wu, Qingyu Q; Ruan, Changgeng C; Dong, Ningzheng N

Publication Date: 2012

Variant appearance in text: VWF: P1127_C1948delinsR

PubMed Link: 22479377

Variant Present in the following documents:

• pone.0033263.pdf

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