A Homozygous Deep Intronic Variant Causes Von Willebrand Factor Deficiency and Lack of Endothelial-Specific Secretory Organelles, Weibel–Palade Bodies

Von Willebrand factor propeptide and pathophysiological mechanisms in European and Iranian patients with type 3 von Willebrand disease enrolled in the 3WINTERS‐IPS study

(2022) Maria Teresa Pagliari et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

ASH ISTH NHF WFH 2021 guidelines on the diagnosis of von Willebrand disease

(2021) Paula D. James et al.   Blood Advances

Identification of Deep-Intronic Splice Mutations in a Large Cohort of Patients With Inherited Retinal Diseases

(2021) Xinye Qian et al.   Frontiers in Genetics

von Willebrand factor propeptide missense variants affect anterograde transport to Golgi resulting in ER retention

(2021) Hamideh Yadegari et al.   HUMAN MUTATION

mRNA analysis identifies deep intronic variants causing Alport syndrome and overcomes the problem of negative results of exome sequencing

(2021) Xiaoyuan Wang et al.   Scientific Reports

A Homozygous Deep Intronic Mutation Alters the Splicing of Nebulin Gene in a Patient With Nemaline Myopathy

(2021) Nathalie Laflamme et al.   Frontiers in Neurology

Unraveling the molecular basis underlying nine putative splice site variants of von Willebrand factor

(2021) Qian Liang et al.   HUMAN MUTATION

A Deep Exon Cryptic Splice Site Promotes Aberrant Intron Retention in a Von Willebrand Disease Patient

(2021) John G. Conboy   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Multifaceted pathomolecular mechanism of a VWF large deletion involved in the pathogenesis of severe VWD

(2021) Hamideh Yadegari et al.   Blood Advances

The Current Understanding of Molecular Pathogenesis of Quantitative von Willebrand Disease, Types 1 and 3

(2020) Hamideh Yadegari et al.   Hamostaseologie

Deep Intronic Mutation in SERPING1 Caused Hereditary Angioedema Through Pseudoexon Activation

(2020) Pavla Hujová et al.   JOURNAL OF CLINICAL IMMUNOLOGY

A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease

(2020) Anna Malekkou et al.   Molecular Genetics & Genomic Medicine

How I treat von Willebrand disease

(2020) Giancarlo Castaman   THROMBOSIS RESEARCH

Predicting Splicing from Primary Sequence with Deep Learning

(2019) Kishore Jaganathan et al.   CELL

Characterization of the mutation spectrum in a Pakistani cohort of type 3 von Willebrand disease

(2019) Shariq Ahmed et al.   HAEMOPHILIA

Tuning the endothelial response: differential release of exocytic cargos from Weibel-Palade Bodies

(2018) Thomas D. Nightingale et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Deep intronic mutations and human disease

(2017) Rita Vaz-Drago et al.   HUMAN GENETICS

Weibel−Palade bodies at a glance

(2017) Jessica J. McCormack et al.   JOURNAL OF CELL SCIENCE

Von Willebrand disease mutation spectrum and associated mutation mechanisms

(2017) Annika de Jong et al.   THROMBOSIS RESEARCH

A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula

(2017) Arif O. Khan et al.   Scientific Reports

Characterization of aberrant splicing of von Willebrand factor in von Willebrand disease: an underrecognized mechanism

(2016) L. Hawke et al.   BLOOD

Intron retention resulting from a silent mutation in the VWF gene that structurally influences the 5' splice site

(2016) H. Yadegari et al.   BLOOD

Tie1 controls angiopoietin function in vascular remodeling and inflammation

(2016) Emilia A. Korhonen et al.   JOURNAL OF CLINICAL INVESTIGATION

Von Willebrand’s Disease

(2016) Frank W.G. Leebeek et al.   NEW ENGLAND JOURNAL OF MEDICINE

miARma-Seq: a comprehensive tool for miRNA, mRNA and circRNA analysis

(2016) Eduardo Andrés-León et al.   Scientific Reports

von Willebrand factor is dimerized by protein disulfide isomerase

(2015) Svenja Lippok et al.   BLOOD

von Willebrand factor biosynthesis, secretion, and clearance: connecting the far ends

(2015) P. J. Lenting et al.   BLOOD

Angiogenic characteristics of blood outgrowth endothelial cells from patients with von Willebrand disease

(2015) D. J. Groeneveld et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Generation and Culture of Blood Outgrowth Endothelial Cells from Human Peripheral Blood

(2015) Mark L. Ormiston et al.   Jove-Journal of Visualized Experiments

Highly reinforced structure of a C-terminal dimerization domain in von Willebrand factor

(2014) Y.-F. Zhou et al.   BLOOD

von Willebrand disease: advances in pathogenetic understanding, diagnosis, and therapy

(2013) D. Lillicrap   BLOOD

Insights into pathological mechanisms of missense mutations in C-terminal domains of von Willebrand factor causing qualitative or quantitative von Willebrand disease

(2013) H. Yadegari et al.   HAEMATOLOGICA

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

Deep intronic ‘mutations’ cause hemophilia A: application of next generation sequencing in patients without detectable mutation inF8cDNA

(2013) B. Pezeshkpoor et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Phenotypic and molecular characterisation of type 3 von Willebrand disease in a cohort of Indian patients

(2013) Ulrich Budde et al.   THROMBOSIS AND HAEMOSTASIS

The Complex Role of Angiopoietin-2 in the Angiopoietin-Tie Signaling Pathway

(2013) G. Thurston et al.   Cold Spring Harbor Perspectives in Medicine

TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions

(2013) Daehwan Kim et al.   GENOME BIOLOGY

Sequence and structure relationships within von Willebrand factor

(2012) Y.-F. Zhou et al.   BLOOD

Fast gapped-read alignment with Bowtie 2

(2012) Ben Langmead et al.   NATURE METHODS

Establishment of outgrowth endothelial cells from peripheral blood

(2012) Javier Martin-Ramirez et al.   Nature Protocols

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

Functional architecture of Weibel-Palade bodies

(2011) K. M. Valentijn et al.   BLOOD

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

Endothelial von Willebrand factor regulates angiogenesis

(2010) R. D. Starke et al.   BLOOD

ISTH/SSC bleeding assessment tool: a standardized questionnaire and a proposal for a new bleeding score for inherited bleeding disorders

(2010) F. RODEGHIERO et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

The mutation spectrum associated with type 3 von Willebrand disease in a cohort of patients from the North West of England

(2009) M. S. SUTHERLAND et al.   HAEMOPHILIA

Angiopoietin-2 Exocytosis Is Stimulated by Sphingosine-1-Phosphate in Human Blood and Lymphatic Endothelial Cells

(2008) Cholsoon Jang et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Genetic defects in von Willebrand disease type 3 in Indian and Greek patients

(2008) P.K. Gupta et al.   BLOOD CELLS MOLECULES AND DISEASES