Characterization of large in-frame von Willebrand factor deletions highlights differing pathogenic mechanisms
Published 2020 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Characterization of large in-frame von Willebrand factor deletions highlights differing pathogenic mechanisms
Authors
Keywords
-
Journal
Blood Advances
Volume 4, Issue 13, Pages 2979-2990
Publisher
American Society of Hematology
Online
2020-07-01
DOI
10.1182/bloodadvances.2018027813
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Analysis of von Willebrand Disease in the South Moravian Population (Czech Republic): Results from the BRNO-VWD Study
- (2019) Petr Smejkal et al. THROMBOSIS AND HAEMOSTASIS
- Type II PI4-kinases control Weibel-Palade body biogenesis and von Willebrand factor structure in human endothelial cells
- (2016) Mafalda Lopes da Silva et al. JOURNAL OF CELL SCIENCE
- Identification and characterization of the elusive mutation causing the historical von Willebrand Disease type IIC Miami
- (2016) T. Obser et al. JOURNAL OF THROMBOSIS AND HAEMOSTASIS
- A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease
- (2016) Agnès Veyradier et al. MEDICINE
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- Mechanisms underlying structural variant formation in genomic disorders
- (2016) Claudia M. B. Carvalho et al. NATURE REVIEWS GENETICS
- The p.R1819_C1948delinsS mutation makes von Willebrand factor ADAMTS13-resistant and reduces its collagen-binding capacity
- (2015) Viviana Daidone et al. BRITISH JOURNAL OF HAEMATOLOGY
- Storage and secretion of naturally occurring von Willebrand factor A domain variants
- (2014) Dafna J. Groeneveld et al. BRITISH JOURNAL OF HAEMATOLOGY
- Genetic Heterogeneity in a Large Cohort of Indian Type 3 von Willebrand Disease Patients
- (2014) Priyanka Kasatkar et al. PLoS One
- VWF propeptide and ratios between VWF, VWF propeptide, and FVIII in the characterization of type 1 von Willebrand disease
- (2013) J. Eikenboom et al. BLOOD
- Mutations in the A3 domain of Von Willebrand factor inducing combined qualitative and quantitative defects in the protein
- (2013) P. Legendre et al. BLOOD
- Cellular and molecular basis of von Willebrand disease: studies on blood outgrowth endothelial cells
- (2013) R. D. Starke et al. BLOOD
- Weibel-Palade bodies: a window to von Willebrand disease
- (2013) K. M. Valentijn et al. JOURNAL OF THROMBOSIS AND HAEMOSTASIS
- The genetics of Canadian type 3 von Willebrand disease: further evidence for co-dominant inheritance of mutant alleles
- (2013) M. Bowman et al. JOURNAL OF THROMBOSIS AND HAEMOSTASIS
- Autophagy regulates endothelial cell processing, maturation and secretion of von Willebrand factor
- (2013) Takehiro Torisu et al. NATURE MEDICINE
- Phenotypic and molecular characterisation of type 3 von Willebrand disease in a cohort of Indian patients
- (2013) Ulrich Budde et al. THROMBOSIS AND HAEMOSTASIS
- Fiji: an open-source platform for biological-image analysis
- (2012) Johannes Schindelin et al. NATURE METHODS
- Mutation distribution in the von Willebrand factor gene related to the different von Willebrand disease (VWD) types in a cohort of VWD patients
- (2012) Hamideh Yadegari et al. THROMBOSIS AND HAEMOSTASIS
- Pathologic mechanisms of type 1 VWD mutations R1205H and Y1584C through in vitro and in vivo mouse models
- (2011) C. M. Pruss et al. BLOOD
- The molecular basis of von Willebrand disease: the under investigated, the unexpected and the overlooked
- (2011) D. J. Hampshire et al. HAEMATOLOGICA
- Biogenesis of Weibel-Palade bodies in von Willebrand's disease variants with impaired von Willebrand factor intrachain or interchain disulfide bond formation
- (2011) J.-W. Wang et al. HAEMATOLOGICA
- Large deletions identified in patients with von Willebrand disease using multiple ligation-dependent probe amplification
- (2011) H. YADEGARI et al. JOURNAL OF THROMBOSIS AND HAEMOSTASIS
- The dominant-negative von Willebrand factor gene deletion p.P1127_C1948delinsR: molecular mechanism and modulation
- (2010) C. Casari et al. BLOOD
- Specific N-linked glycosylation sites modulate synthesis and secretion of von Willebrand factor
- (2010) T. A. J. McKinnon et al. BLOOD
- The genetic basis of von Willebrand disease
- (2010) Anne C. Goodeve BLOOD REVIEWS
- First application of MLPA method in severe von Willebrand disease. Confirmation of a new large VWF gene deletion and identification of heterozygous carriers
- (2010) Noelia Cabrera et al. BRITISH JOURNAL OF HAEMATOLOGY
- A novel deletion mutation is recurrent in von Willebrand disease types 1 and 3
- (2009) M. S. Sutherland et al. BLOOD
- Multiplex ligation-dependent probe amplification to detect a large deletion within the von Willebrand gene
- (2009) M. ACQUILA et al. HAEMOPHILIA
- Three-Dimensional Resolution Doubling in Wide-Field Fluorescence Microscopy by Structured Illumination
- (2008) Mats G.L. Gustafsson et al. BIOPHYSICAL JOURNAL
- Response to desmopressin is influenced by the genotype and phenotype in type 1 von Willebrand disease (VWD): results from the European Study MCMDM-1VWD
- (2008) G. Castaman et al. BLOOD
- Detailed von Willebrand factor multimer analysis in patients with von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 von Willebrand disease (MCMDM-1VWD)
- (2008) U. BUDDE et al. JOURNAL OF THROMBOSIS AND HAEMOSTASIS
- Assembly of Weibel Palade body-like tubules from N-terminal domains of von Willebrand factor
- (2008) R.-H. Huang et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started