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: Asn528Ser

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: 1583A>G; Asn528Ser

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: N528S

PubMed Link: 35776905

Variant Present in the following documents:

• bloodBLD2022016467-suppl1.pdf
• 10.1182-2022016467_bloodbld2022016467-suppl1.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: 1583A>G; Asn528Ser

PubMed Link: 35452508

Variant Present in the following documents:

• Main text
• advancesADV2022007216.pdf
• advancesADV2022007216-suppl1.pdf

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Novel cysteine substitution p.(Cys1084Tyr) causes variable expressivity of qualitative and quantitative VWF defects.

Blood Advances

Rawley, Orla O; Swystun, Laura L LL; Brown, Christine C; Nesbitt, Kate K; Rand, Margaret M; Hossain, Taneya T; Klaassen, Robert R; James, Paula D PD; Carcao, Manuel D MD; Lillicrap, David D

Publication Date: 2022-05-10

Variant appearance in text: VWF: N528S

PubMed Link: 35020809

Variant Present in the following documents:

• advancesADV2021005928.pdf

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The Manifold Cellular Functions of von Willebrand Factor.

Cells

Mojzisch, Angelika A; Brehm, Maria A MA

Publication Date: 2021-09-08

Variant appearance in text: VWF: Asn528Ser

PubMed Link: 34572000

Variant Present in the following documents:

• Main text
• cells-10-02351.pdf

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: VWF: 1583A>G; Asn528Ser

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 4
• aba1773_Data_file_S1.xlsx, sheet 2
• aba1773_Data_file_S1.xlsx, sheet 3

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: VWF: 1583A>G; rs61754010

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

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[The function and clinical value of Von Willebrand factor propeptide].

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi

Yin, Jie J; Ruan, Changgeng C

Publication Date: 2015-10

Variant appearance in text: VWF: N528S

PubMed Link: 26477774

Variant Present in the following documents:

• Main text
• cjh-36-10-883.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: N528S

PubMed Link: 26215113

Variant Present in the following documents:

• Main text

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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: N528S

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

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Update on von Willebrand factor multimers: focus on high-molecular-weight multimers and their role in hemostasis.

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

Stockschlaeder, Marcus M; Schneppenheim, Reinhard R; Budde, Ulrich U

Publication Date: 2014-04

Variant appearance in text: VWF: N528S

PubMed Link: 24448155

Variant Present in the following documents:

• blcof-25-206.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: N528S

PubMed Link: 24385719

Variant Present in the following documents:

• Main text

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Intersection of mechanisms of type 2A VWD through defects in VWF multimerization, secretion, ADAMTS-13 susceptibility, and regulated storage.

Blood

Jacobi, Paula M PM; Gill, Joan Cox JC; Flood, Veronica H VH; Jakab, David A DA; Friedman, Kenneth D KD; Haberichter, Sandra L SL

Publication Date: 2012-05-10

Variant appearance in text: VWF: N528S

PubMed Link: 22431572

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: Asn528Ser

PubMed Link: 21266719

Variant Present in the following documents:

• Main text

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The mutation N528S in the von Willebrand factor (VWF) propeptide causes defective multimerization and storage of VWF.

Blood

Haberichter, Sandra L SL; Budde, Ulrich U; Obser, Tobias T; Schneppenheim, Sonja S; Wermes, Cornelia C; Schneppenheim, Reinhard R

Publication Date: 2010-06-03

Variant appearance in text: VWF: N528S

PubMed Link: 20335223

Variant Present in the following documents:

• Main text

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