Molecular Etiology and Laboratory Phenotypes of Recessive Von
Willebrand Disease 2N Due to Mutations in the D’D3 Factor
VIII-Binding Domain of the Von Willebrand Factor Gene: A
Critical Appraisal of the Literature and Personal Experiences

J 2019

Molecular Etiology and Laboratory Phenotypes of Recessive Von Willebrand Disease 2N Due to Mutations in the D’D3 Factor VIII-Binding Domain of the Von Willebrand Factor Gene: A Critical Appraisal of the Literature and Personal Experiences

MICHIELS, Jan Jacques; D. Flemming HANSEN; Petr SMEJKAL; Tereza FIDALGO; Francisco Javier BATTLE et. al.

Základní údaje

Originální název

Molecular Etiology and Laboratory Phenotypes of Recessive Von Willebrand Disease 2N Due to Mutations in the D’D3 Factor VIII-Binding Domain of the Von Willebrand Factor Gene: A Critical Appraisal of the Literature and Personal Experiences

Autoři

Vydání

Acta Scientific Medical Sciences, Acta Scientific, 2019, 2582-0931

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30101 Human genetics

Stát vydavatele

Indie

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Kód RIV

RIV/00216224:14110/19:00111677

Organizační jednotka

Lékařská fakulta

Klíčová slova anglicky

Von Willebrand Disease; Molecular Etiology; 2N Due

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 5. 5. 2020 09:17, Mgr. Tereza Miškechová

Anotace

V originále

The FVIII binding site on von Willebrand factor (VWF) is located in the D’ (766-864) and D3 (1054-1060) regions of the VWF gene. The cysteine residues in the D’ domain form disulfide bridges within the D’ trypsin-inhibitor-like (TIL’) and E’ regions,and these are of critically importance for the binding between TIL’E’ and FVIII. We analyzed the molecular etiology and laboratory phenotype of von Willebrand disease (VWD) 2N patients reported in the literature and added personal experiences from three European VWF VWD Research Centers.

Citovat

MICHIELS, Jan Jacques; D. Flemming HANSEN; Petr SMEJKAL; Tereza FIDALGO; Francisco Javier BATTLE; Jan BLATNY; Miroslav PENKA; Angelika BATOROVA; Tatiana PRIGANCOVA; Ulrich BUDDE; Inge VANGENECHTEN a Alain GADISSEUR. Molecular Etiology and Laboratory Phenotypes of Recessive Von Willebrand Disease 2N Due to Mutations in the D’D3 Factor VIII-Binding Domain of the Von Willebrand Factor Gene: A Critical Appraisal of the Literature and Personal Experiences. Acta Scientific Medical Sciences. Acta Scientific, 2019, roč. 3, č. 12, s. 140-158. ISSN 2582-0931.

@article{1591398,
   author = {Michiels, Jan Jacques and Hansen, D. Flemming and Smejkal, Petr and Fidalgo, Tereza and Battle, Francisco Javier and Blatny, Jan and Penka, Miroslav and Batorova, Angelika and Prigancova, Tatiana and Budde, Ulrich and Vangenechten, Inge and Gadisseur, Alain},
   article_number = {12},
   keywords = {Von Willebrand Disease; Molecular Etiology; 2N Due},
   language = {eng},
   issn = {2582-0931},
   journal = {Acta Scientific Medical Sciences},
   title = {Molecular Etiology and Laboratory Phenotypes of Recessive Von Willebrand Disease 2N Due to Mutations in the D’D3 Factor VIII-Binding Domain of the Von Willebrand Factor Gene: A Critical Appraisal of the Literature and Personal Experiences},
   url = {https://www.actascientific.com/ASMS/pdf/ASMS-03-0483.pdf},
   volume = {3},
   year = {2019}
}

TY  - JOUR
ID  - 1591398
AU  - Michiels, Jan Jacques - Hansen, D. Flemming - Smejkal, Petr - Fidalgo, Tereza - Battle, Francisco Javier - Blatny, Jan - Penka, Miroslav - Batorova, Angelika - Prigancova, Tatiana - Budde, Ulrich - Vangenechten, Inge - Gadisseur, Alain
PY  - 2019
TI  - Molecular Etiology and Laboratory Phenotypes of Recessive Von Willebrand Disease 2N Due to Mutations in the D’D3 Factor VIII-Binding Domain of the Von Willebrand Factor Gene: A Critical Appraisal of the Literature and Personal Experiences
JF  - Acta Scientific Medical Sciences
VL  - 3
IS  - 12
SP  - 140-158
EP  - 140-158
PB  - Acta Scientific
SN  - 25820931
KW  - Von Willebrand Disease
KW  - Molecular Etiology
KW  - 2N Due
UR  - https://www.actascientific.com/ASMS/pdf/ASMS-03-0483.pdf
L2  - https://www.actascientific.com/ASMS/pdf/ASMS-03-0483.pdf
N2  - The FVIII binding site on von Willebrand factor (VWF) is located in the D’ (766-864) and D3 (1054-1060) regions of the VWF gene. The cysteine residues in the D’ domain form disulfide bridges within the D’ trypsin-inhibitor-like (TIL’) and E’ regions,and these are of critically importance for the binding between TIL’E’ and FVIII. We analyzed the molecular etiology and laboratory phenotype of von Willebrand disease (VWD) 2N patients reported in the literature and added personal experiences from three European VWF VWD Research Centers.
ER  -

MICHIELS, Jan Jacques; D. Flemming HANSEN; Petr SMEJKAL; Tereza FIDALGO; Francisco Javier BATTLE; Jan BLATNY; Miroslav PENKA; Angelika BATOROVA; Tatiana PRIGANCOVA; Ulrich BUDDE; Inge VANGENECHTEN a Alain GADISSEUR. Molecular Etiology and Laboratory Phenotypes of Recessive Von Willebrand Disease 2N Due to Mutations in the D’D3 Factor VIII-Binding Domain of the Von Willebrand Factor Gene: A Critical Appraisal of the Literature and Personal Experiences. \textit{Acta Scientific Medical Sciences}. Acta Scientific, 2019, roč.~3, č.~12, s.~140-158. ISSN~2582-0931.

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