Cargando…

Genetic Variants Identified by Whole Exome Sequencing in a Large Italian Family with High Plasma Levels of Factor VIII and Von Willebrand Factor

High plasma levels of factor VIII (FVIII) and von Willebrand factor (VWF) have been indicated as independent risk factors for venous thromboembolism. However, the genetic factors responsible for their increase remain poorly known. In a large Italian family with high FVIII/VWF levels and thrombotic e...

Descripción completa

Detalles Bibliográficos
Autores principales:	Spena, Silvia, Cairo, Andrea, Gianniello, Francesca, Pappalardo, Emanuela, Mortarino, Mimosa, Garagiola, Isabella, Martinelli, Ida, Peyvandi, Flora
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10532311/ https://www.ncbi.nlm.nih.gov/pubmed/37762470 http://dx.doi.org/10.3390/ijms241814167

Ejemplares similares

Hemophilia and von Willebrand disease: Factor VIII and von Willebrand factor
por: Sharma, Prashant
Publicado: (2019)

A recurrent F8 mutation (c.6046C>T) causing hemophilia A in 8% of northern Italian patients: evidence for a founder effect
por: Garagiola, Isabella, et al.
Publicado: (2015)

Platelet to Lymphocyte Ratio and Neutrophil to Lymphocyte Ratio as Risk Factors for Venous Thrombosis
por: Artoni, Andrea, et al.
Publicado: (2017)

Subcellular platelet factor VIII antigen and von Willebrand factor
Publicado: (1975)

Genetic variants at the chromosomal region 2q21.3 underlying inhibitor development in patients with severe haemophilia A
por: Spena, Silvia, et al.
Publicado: (2022)

Human von Willebrand factor/factor VIII concentrates in the management of pediatric patients with von Willebrand disease/hemophilia A
por: Castaman, Giancarlo, et al.
Publicado: (2016)

How to keep the factor VIII/von Willebrand factor complex in the circulation
por: Denis, Cécile V., et al.
Publicado: (2021)

Subunit Flexibility of Multimeric von Willebrand Factor/Factor VIII Complexes
por: Parker, Ernest T., et al.
Publicado: (2022)

Mechano-covalent protection of coagulation factor VIII by von Willebrand factor
por: Butera, Diego, et al.
Publicado: (2022)

Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis and activity
por: Donadon, Irving, et al.
Publicado: (2018)

Conformation of the von Willebrand factor/factor VIII complex in quasi-static flow
por: Parker, Ernest T., et al.
Publicado: (2021)

Recombinant von Willebrand factor prophylaxis in patients with severe von Willebrand disease: phase 3 study results
por: Leebeek, Frank W. G., et al.
Publicado: (2022)

Cerebral Sinus and Venous Thrombosis Associated with von Willebrand Factor, Independently of Factor VIII
por: Terashima, Mari, et al.
Publicado: (2008)

Development of a Specific Monoclonal Antibody to Detect Male Cells Expressing the RPS4Y1 Protein
por: Spena, Silvia, et al.
Publicado: (2021)

A comparative study in patients with type 2 von Willebrand disease using 4 different platelet-dependent von Willebrand factor assays
por: Colpani, Paola, et al.
Publicado: (2023)

Reply to “Comment on: A comparative study in type 2 von Willebrand disease patients using four different platelet-dependent von Willebrand factor assays”
por: Colpani, Paola, et al.
Publicado: (2023)

Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databases
por: Seidizadeh, Omid, et al.
Publicado: (2023)

Cleavage of von Willebrand Factor by Granzyme M Destroys Its Factor VIII Binding Capacity
por: Hollestelle, Martine J., et al.
Publicado: (2011)

Paroxysmal atrial fibrillation: changes in factor VIII and von Willebrand factor impose early hypercoagulability
por: Negreva, Mariya Negrinova, et al.
Publicado: (2020)

Polyphosphate Activates von Willebrand Factor Interaction with Glycoprotein Ib in the Absence of Factor VIII In Vitro
por: Montilla, Marcela, et al.
Publicado: (2022)

Coexpression of factor VIII and factor von Willebrand variants in a woman with heavy menstrual bleeding
por: Casini, Alessandro, et al.
Publicado: (2023)

The dominant p.Thr274Pro mutation in the von Willebrand factor propeptide causes the von Willebrand disease type 1 phenotype in two unrelated patients
por: Pagliari, Maria Teresa, et al.
Publicado: (2022)

Management of von Willebrand disease with a factor VIII‐poor von Willebrand factor concentrate: Results from a prospective observational post‐marketing study
por: Goudemand, Jenny, et al.
Publicado: (2020)

Successful desensitization in a patient with Von Willebrand´s disease and anaphylaxis to factor VIII/VW
por: Olival, Maristela, et al.
Publicado: (2014)

Presence of factor VIII-related antigen in blood platelets of patients with Von Willebrand's disease
por: BOUMA, B. N., et al.
Publicado: (1975)

The von Willebrand factor A-1 domain binding aptamer BT200 elevates plasma levels of von Willebrand factor and factor VIII: a first-in-human trial
por: Kovacevic, Katarina D., et al.
Publicado: (2021)

Product type and other environmental risk factors for inhibitor development in severe hemophilia A
por: Peyvandi, Flora, et al.
Publicado: (2018)

Next-generation sequencing of von Willebrand factor and coagulation factor VIII genes: a cross-sectional study in Croatian adult patients diagnosed with von Willebrand disease
por: Lapić, Ivana, et al.
Publicado: (2022)

Interaction Between the a3 Region of Factor VIII and the TIL’E’ Domains of the von Willebrand Factor
por: Dagil, Lisbeth, et al.
Publicado: (2019)

ADAMTS13 activity, von Willebrand factor, factor VIII and D-dimers in COVID-19 inpatients
por: Escher, R., et al.
Publicado: (2020)

Von Willebrand and Factor VIII Portosystemic Circulation Gradient in Cirrhosis: Implications for Portal Vein Thrombosis
por: Praktiknjo, Michael, et al.
Publicado: (2020)

Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2
por: Seidizadeh, Omid, et al.
Publicado: (2022)

Storage of Factor VIII Variants with Impaired von Willebrand Factor Binding in Weibel-Palade Bodies in Endothelial Cells
por: van den Biggelaar, Maartje, et al.
Publicado: (2011)

Von Willebrand factor and coagulation factor VIII in Moyamoya disease associated with Graves' disease: A case report
por: Ren, Shou-Chen, et al.
Publicado: (2016)

Mice deficient in the anti-haemophilic coagulation factor VIII show increased von Willebrand factor plasma levels
por: Kiouptsi, Klytaimnistra, et al.
Publicado: (2017)

D’ domain region Arg782-Cys799 of von Willebrand factor contributes to factor VIII binding
por: Przeradzka, Małgorzata A., et al.
Publicado: (2020)

Endothelial Dysfunction, Atherosclerosis, and Increase of Von Willebrand Factor and Factor VIII: A Randomized Controlled Trial in Swine
por: Lämmle, Bernhard
Publicado: (2021)

The Vascular Endothelium and Coagulation: Homeostasis, Disease, and Treatment, with a Focus on the Von Willebrand Factor and Factors VIII and V
por: Pablo-Moreno, Juan A. De, et al.
Publicado: (2022)

Phase 3 study of recombinant von Willebrand factor in patients with severe von Willebrand disease who are undergoing elective surgery
por: Peyvandi, F., et al.
Publicado: (2018)

Severe Traumatic Brain Injury in a Patient with von Willebrand Disease Type 2A Successfully Treated with Factor VIII/von Willebrand Factor Concentrates: A Case Report
por: Koroki, Takatoshi, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_o4bh1b8s5h9qalhqqdu22mlv9h