Identification of a de novo MYH9 mutation in a Chinese family with MYH9-related disease
HematologyObjectives MYH9-related disease (MYH9-RD) is a congenital bleeding disorder characterized by thrombocytopenia, platelet macrocytosis, inclusion bodies in neutrophils.The aim of this study was to investigate a Chinese family with MYH9-RD and to identity ...
Ruimin Cai +6 more
doaj +1 more source
Familial Macrothrombocytopenia with Granulocyte Inclusion: A Clinical and Laboratory Problem
, 2009 The differential diagnosis of familial macrothrombocytopenia and idiopathic thrombocytopenic purpura (ITP) may be difficult owing to the similarities in their clinical and laboratory presentations, but it is important because of dissimilarities in their ...
LIN, JEN-SHIOU;WANG, CHIU-HWA;LIN, CHIN-TARNG;SHEN, MING-CHING +1 more
core
Mutations in the cofilin partner Aip1/Wdr1 cause autoinflammatory disease and macrothrombocytopenia
, 2007 A pivotal mediator of actin dynamics is the protein cofilin, which promotes filament severing and depolymerization, facilitating the breakdown of existing filaments, and the enhancement of filament growth from newly created barbed ends.
Mielke, Lisa A +13 more
core +1 more source
Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation [PDF]
, 2001 A new mutation is described in the X-linked gene GATA1, resulting in macrothrombocytopenia and mild dyserythropoietic features but no marked anemia in a 4-generation family.
Devriendt, Koenraad +9 more
core +1 more source
, 2017 Congenital macrothrombocytopenia is a family of rare diseases, of which a significant fraction remains to be genetically characterized. To analyze cases of unexplained thrombocytopenia, 27 individuals from a patient cohort of the Bleeding and Thrombosis ...
Favier, Marie +48 more
core +1 more source
Inherited Macrothrombocytopenias: Diagnosis and Management
Transfusion Medicine and Hemotherapy, 2004 Summary Inherited macrothrombocytopenias (IMT) are a heterogeneous group of platelet disorders characterized by a reduced platelet count and accompanied by an increased platelet volume.
M. Lozano, S. Pérez-Pujol
openaire +1 more source
A Glanzmann thrombasthenia family associated with a TUBB1-related macrothrombocytopenia
, 2019 International audienceBackground - Macrothrombocytopenia (MTP) is a rare but enigmatic complication of Glanzmann thrombasthenia (GT), an inherited bleeding disorder caused by the absence of platelet aggregation due to deficiencies of the αIIbβ3 integrin.
Guillet, Benoit +7 more
core +1 more source
Autosomal dominant hereditary macrothrombocytopenia in an Iranian family
, 2007 Objective: Thrombocytopenia is the most common hemostatic disease of the newborn. Inherited giant platelet syndromes are a heterogeneous group of rare bleeding disorders.
Isadiar, M +3 more
core
A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome
Platelets, 2018 Mutations in the GP1BA gene have been associated with platelet-type von Willebrand disease and Bernard-Soulier syndrome. Here, we report a novel GP1BA mutation in a family with autosomal dominant macrothrombocytopenia and mild bleeding.
Jakub Trizuljak +12 more
doaj +1 more source
Investigation of calmodulin‐like and rod domain mutations suggests common molecular mechanism for α‐actinin‐1‐linked congenital macrothrombocytopenia [PDF]
, 2019 Actinin‐1 mutations cause dominantly inherited congenital macrothrombocytopenia (CMTP), with mutations in the actin‐binding domain increasing actinin's affinity for F‐actin.
Grennan, Eamonn Paul +6 more
core +1 more source