Cargando…

Phenotype analysis and clinical management in a large family with a novel truncating mutation in RASGRP2, the CalDAG‐GEFI encoding gene

ESSENTIALS: Mutations in the RASGRP2 gene represent a new inherited platelet function disorder. Report a five generation family with a novel frameshift mutation in RASGRP2 (p.F497Sfs*22). Partial platelet activation defect and serious bleeding complications in homozygous patients. Patients respond t...

Descripción completa

Detalles Bibliográficos
Autores principales:	Desai, Amrita, Bergmeier, Wolfgang, Canault, Mathias, Alessi, Marie‐Christine, Paul, David S., Nurden, Paquita, Pillois, Xavier, Jy, Wenche, Ahn, Yeon S., Nurden, Alan T.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2017
Materias:	Online‐only Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5974916/ https://www.ncbi.nlm.nih.gov/pubmed/30046681 http://dx.doi.org/10.1002/rth2.12019

Ejemplares similares

Human CalDAG-GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleeding
por: Canault, Matthias, et al.
Publicado: (2014)

Identification of two novel mutations in RASGRP2 affecting platelet CalDAG-GEFI expression and function in patients with bleeding diathesis
por: Sevivas, Teresa, et al.
Publicado: (2017)

CalDAG-GEFI Deficiency in a Family with Symptomatic Heterozygous and Homozygous Carriers of a Likely Pathogenic Variant in RASGRP2
por: Morais, Sara, et al.
Publicado: (2021)

Identification of a severe bleeding disorder in humans caused by a mutation in CalDAG-GEFI
por: Muller, William A.
Publicado: (2014)

CalDAG-GEFI mediates striatal cholinergic modulation of dendritic excitability, synaptic plasticity and psychomotor behaviors
por: Crittenden, Jill R., et al.
Publicado: (2021)

A LAD-III syndrome is associated with defective expression of the Rap-1 activator CalDAG-GEFI in lymphocytes, neutrophils, and platelets
por: Pasvolsky, Ronit, et al.
Publicado: (2007)

The Guanine-Nucleotide Exchange Factor Caldag Gefi Fine-Tunes Functional Properties of Regulatory T Cells
por: Niemz, Jana, et al.
Publicado: (2017)

Molecular Dynamics Analysis of a Novel β3 Pro189Ser Mutation in a Patient with Glanzmann Thrombasthenia Differentially Affecting αIIbβ3 and αvβ3 Expression
por: Laguerre, Michel, et al.
Publicado: (2013)

Inherited thrombocytopenias: history, advances and perspectives
por: Nurden, Alan T., et al.
Publicado: (2020)

RasGRP2 Structure, Function and Genetic Variants in Platelet Pathophysiology
por: Canault, Matthias, et al.
Publicado: (2020)

Deep Vein Thrombosis, Raynaud's Phenomenon, and Prinzmetal Angina in a Patient with Glanzmann Thrombasthenia
por: Nurden, Alan, et al.
Publicado: (2012)

Inherited platelet diseases with normal platelet count: phenotypes, genotypes and diagnostic strategy
por: Nurden, Paquita, et al.
Publicado: (2020)

The Nbeal2(−/−) mouse as a model for the gray platelet syndrome
por: Deppermann, Carsten, et al.
Publicado: (2013)

In silico analysis of structural modifications in and around the integrin αIIb genu caused by ITGA2B variants in human platelets with emphasis on Glanzmann thrombasthenia
por: Pillois, Xavier, et al.
Publicado: (2018)

Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders
por: Saposnik, Béatrice, et al.
Publicado: (2014)

APOLD1 loss causes endothelial dysfunction involving cell junctions, cytoskeletal architecture, and Weibel-Palade bodies, while disrupting hemostasis
por: Stritt, Simon, et al.
Publicado: (2022)

Autoantibodies to N-terminally Truncated GAD(65)(96-585): HLA Associations and Predictive Value for Type 1 Diabetes
por: Pöllänen, Petra M, et al.
Publicado: (2021)

Glanzmann thrombasthenia
por: Nurden, Alan T
Publicado: (2006)

Profiling the Genetic and Molecular Characteristics of Glanzmann Thrombasthenia: Can It Guide Current and Future Therapies?
por: Nurden, Alan
Publicado: (2021)

The GPIIb-IIIa defect of platelets in Glanzmann thrombasthenia
por: Nurden, Alan T.
Publicado: (2023)

MethylCal: Bayesian calibration of methylation levels
por: Ochoa, Eguzkine, et al.
Publicado: (2019)

The Medical Research Council (UK)/Uganda Virus Research Institute Uganda Research Unit on AIDS – ‘25 years of research through partnerships’
por: Kaleebu, P, et al.
Publicado: (2015)

Cognitive Function of Children and Adolescents With Congenital Adrenal Hyperplasia: Importance of Early Diagnosis
por: Messina, Valeria, et al.
Publicado: (2020)

Changes in orthodontics during the COVID-19 pandemic that have come to stay
por: García-Camba, Pablo, et al.
Publicado: (2020)

COVID-19: What do we know?
por: Marshall, Steve, et al.
Publicado: (2020)

Bridging worldviews: Toward a common model of leadership across the health professions
por: Garman, Andrew N., et al.
Publicado: (2020)

IGSF1 Deficiency Results in Human and Murine Somatotrope Neurosecretory Hyperfunction
por: Joustra, Sjoerd D, et al.
Publicado: (2019)

Urine Steroid Metabolomics as a Novel Tool for Detection of Recurrent Adrenocortical Carcinoma
por: Chortis, Vasileios, et al.
Publicado: (2019)

Evaluation of the 2015 ATA Guidelines in Patients With Distant Metastatic Differentiated Thyroid Cancer
por: van Velsen, Evert F S, et al.
Publicado: (2019)

Bone Mineral Density After Transitioning From Denosumab to Alendronate
por: Kendler, David, et al.
Publicado: (2019)

Divergent Metastatic Patterns Between Subtypes of Thyroid Carcinoma Results From the Nationwide Dutch Pathology Registry
por: Hugen, Niek, et al.
Publicado: (2019)

Surgery as a Viable Alternative First-Line Treatment for Prolactinoma Patients. A Systematic Review and Meta-Analysis
por: Zamanipoor Najafabadi, Amir H, et al.
Publicado: (2019)

Body Composition and Markers of Cardiometabolic Health in Transgender Youth Compared With Cisgender Youth
por: Nokoff, Natalie J, et al.
Publicado: (2019)

Estimated Association Between Cytokines and the Progression to Diabetes: 10-year Follow-Up From a Community-Based Cohort
por: Cho, Nam H, et al.
Publicado: (2019)

Distribution of Tri-Ponderal Mass Index and its Relation to Body Mass Index in Children and Adolescents Aged 10 to 20 Years
por: Park, Hong Kyu, et al.
Publicado: (2020)

Fibroblast Growth Factor-21, Leptin, and Adiponectin Responses to Acute Cold-Induced Brown Adipose Tissue Activation
por: Sun, Lijuan, et al.
Publicado: (2020)

Kinetics and Interrelations of the Renin Aldosterone Response to Acute Psychosocial Stress: A Neglected Stress System
por: Gideon, Angelina, et al.
Publicado: (2019)

Newly diagnosed and previously treated multicentric Castleman disease respond equally to siltuximab
por: van Rhee, Frits, et al.
Publicado: (2020)

Surgical management of a perforated ‘black oesophagus’
por: Kuiper, Gino M., et al.
Publicado: (2021)

Pembrolizumab combined with carfilzomib and low‐dose dexamethasone for relapsed or refractory multiple myeloma: Cohort 2 of the phase I KEYNOTE‐023 study
por: Moreau, Philippe, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_3arnkkem7pll02u0929cjugjr4