Cargando…

Assessment of the Olfactory Function in Italian Patients with Type 3 von Willebrand Disease Caused by a Homozygous 253 Kb Deletion Involving VWF and TMEM16B/ANO2

Type 3 Von Willebrand disease is an autosomal recessive disease caused by the virtual absence of the von Willebrand factor (VWF). A rare 253 kb gene deletion on chromosome 12, identified only in Italian and German families, involves both the VWF gene and the N-terminus of the neighbouring TMEM16B/AN...

Descripción completa

Detalles Bibliográficos
Autores principales:	Cenedese, Valentina, Mezzavilla, Massimo, Morgan, Anna, Marino, Renato, Ettorre, Cosimo Pietro, Margaglione, Maurizio, Gasparini, Paolo, Menini, Anna
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2015
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4312080/ https://www.ncbi.nlm.nih.gov/pubmed/25635880 http://dx.doi.org/10.1371/journal.pone.0116483

Ejemplares similares

Comorbidities associated with higher von Willebrand factor (VWF) levels may explain the age‐related increase of VWF in von Willebrand disease
por: Atiq, Ferdows, et al.
Publicado: (2018)

A 12.3-kb Duplication Within the VWF Gene in Pigs Affected by Von Willebrand Disease Type 3
por: Lehner, Stefanie, et al.
Publicado: (2017)

In Vitro Assessment of von Willebrand Factor in Cryoprecipitate, Antihemophilic Factor/VWF Complex (Human), and Recombinant von Willebrand Factor
por: Colling, Meaghan E., et al.
Publicado: (2019)

The VWF binding aptamer rondoraptivon pegol increases platelet counts and VWF/FVIII in type 2B von Willebrand disease
por: Ay, Cihan, et al.
Publicado: (2022)

Von Willebrand disease type 2B with a novel mutation in the VWF gene
por: Jeraiby, Mohammed Abdullah, et al.
Publicado: (2021)

Role of multimeric analysis of von Willebrand factor (VWF) in von Willebrand disease (VWD) diagnosis: Lessons from the PCM-EVW-ES Spanish project
por: Pérez-Rodríguez, Almudena, et al.
Publicado: (2018)

The development and characterization of a long acting anti‐thrombotic von Willebrand factor (VWF) aptamer
por: Zhu, Shuhao, et al.
Publicado: (2020)

BMI is an important determinant of VWF and FVIII levels and bleeding phenotype in patients with von Willebrand disease
por: Atiq, Ferdows, et al.
Publicado: (2019)

von Willebrand factor antigen levels are associated with burden of rare nonsynonymous variants in the VWF gene
por: Sadler, Brooke, et al.
Publicado: (2021)

The aptamer BT200 effectively inhibits von Willebrand factor (VWF) dependent platelet function after stimulated VWF release by desmopressin or endotoxin
por: Kovacevic, Katarina D., et al.
Publicado: (2020)

Von Willebrand Factor Abnormalities Studied in the Mouse Model: What We Learned about VWF Functions
por: Casari, Caterina, et al.
Publicado: (2013)

von Willebrand factor promotes platelet-induced metastasis of osteosarcoma through activation of the VWF-GPIb axis
por: Wang, Q., et al.
Publicado: (2020)

Effectiveness of long‐term prophylaxis using pdFVIII/VWF concentrate in patients with inherited von Willebrand disease
por: Rugeri, Lucia, et al.
Publicado: (2022)

Interactions between permeation and gating in the TMEM16B/anoctamin2 calcium-activated chloride channel
por: Betto, Giulia, et al.
Publicado: (2014)

Interactions between permeation and gating in the TMEM16B/anoctamin2 calcium-activated chloride channel
por: Betto, Giulia, et al.
Publicado: (2014)

An Open-Label Extension Study to Assess the Long-Term Efficacy and Safety of a Plasma-Derived von Willebrand Factor (VWF)/Factor VIII (FVIII) Concentrate in Patients with von Willebrand Disease (SWIFT-VWDext Study)
por: Lissitchkov, Toshko, et al.
Publicado: (2020)

The Flow Dependent Adhesion of von Willebrand Factor (VWF)-A1 Functionalized Nanoparticles in an in Vitro Coronary Stenosis Model
por: Asaad, Yathreb, et al.
Publicado: (2019)

Phenotypic and Genotypic Signatures of VWF Exon 18 in Eastern Saudi Patients Previously Diagnosed with Type 1 von Willebrand Disease
por: Alzahrani, Faisal M, et al.
Publicado: (2022)

The voltage dependence of the TMEM16B/anoctamin2 calcium-activated chloride channel is modified by mutations in the first putative intracellular loop
por: Cenedese, Valentina, et al.
Publicado: (2012)

Immunohistochemial study on the expression of von Willebrand factor (vWF) after onlay autogenous iliac grafts for lateral alveolar ridge augmentation
por: Koerdt, Steffen, et al.
Publicado: (2013)

Von Willebrand factor (vWF) in patients with heart failure with preserved ejection fraction (HFpEF): A retrospective observational study
por: Abudoukelimu, Mayila, et al.
Publicado: (2022)

Pharmacokinetics, efficacy, and safety of a plasma-derived VWF/FVIII concentrate (VONCENTO) for on-demand and prophylactic treatment in patients with von Willebrand disease (SWIFT-VWD study)
por: Lissitchkov, Toshko J., et al.
Publicado: (2017)

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

Clinical Efficacy and Safety of Fanhdi(®), a Plasma-Derived VWF/Factor VIII Concentrate, in von Willebrand Disease in Spain: A Retrospective Study
por: Jiménez-Yuste, Víctor, et al.
Publicado: (2022)

Continuous Infusion of Factor VIII and von Willebrand Factor in Surgery: Trials with pdFVIII LFB or pdVWF LFB in Patients with Bleeding Disorders
por: Windyga, Jerzy, et al.
Publicado: (2022)

Development of the Olfactory Epithelium and Nasal Glands in TMEM16A(-/-) and TMEM16A(+/+) Mice
por: Maurya, Devendra Kumar, et al.
Publicado: (2015)

Von Willebrand Factor, Angiodysplasia and Angiogenesis
por: Randi, Anna M., et al.
Publicado: (2013)

Diagnostic Value of Measuring Platelet Von Willebrand Factor in Von Willebrand Disease
por: Casonato, Alessandra, et al.
Publicado: (2016)

Pharmacokinetics, Efficacy and Safety of a Plasma-Derived VWF/FVIII Concentrate (Formulation V) in Pediatric Patients with von Willebrand Disease (SWIFTLY-VWD Study)
por: Auerswald, Guenter, et al.
Publicado: (2020)

Dental invasive procedures in von Willebrand disease outpatients treated with high purity FVIII/VWF complex concentrate (Fanhdi®): experience of a single center
por: De Padua, Valeria, et al.
Publicado: (2020)

Von Willebrand factor collagen-binding capacity predicts in-hospital mortality in COVID-19 patients: insight from VWF/ADAMTS13 ratio imbalance
por: Philippe, Aurélien, et al.
Publicado: (2021)

Endotheliopathy marked by high von Willebrand factor (vWF) antigen in COVID-19 is associated with poor outcome: a systematic review and meta-analysis
por: Wibowo, Arief, et al.
Publicado: (2022)

Changes of von Willebrand Factor during Pregnancy in Women with and without von Willebrand Disease
por: Castaman, Giancarlo
Publicado: (2013)

Genetic Variation in the von Willebrand Factor Gene in Swedish von Willebrand Disease Patients
por: Manderstedt, Eric, et al.
Publicado: (2018)

Association of Genetic and Allelic Variants of Von Willebrand Factor (VWF), Glutathione S-Transferase and Tumor Necrosis Factor Alpha with Ischemic Stroke Susceptibility and Progression in the Saudi Population
por: Jalal, Mohammed M., et al.
Publicado: (2023)

Von Willebrand Disease: An Overview
por: Bharati, K. Pavani, et al.
Publicado: (2011)

On the Versatility of von Willebrand Factor
por: Rauch, Antoine, et al.
Publicado: (2013)

Of von Willebrand factor and platelets
por: Bryckaert, Marijke, et al.
Publicado: (2014)

Porcine and Canine von Willebrand Factor and von Willebrand Disease: Hemostasis, Thrombosis, and Atherosclerosis Studies
por: Nichols, Timothy C., et al.
Publicado: (2010)

Classification of von Willebrand disease in the context of modern contemporary von Willebrand factor testing methodologies
por: Favaloro, Emmanuel J.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_0oc766cgopq6ojetbui27pp9rf