(Q33422572)

26 July 2017

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title

Progress in understanding the diagnosis and molecular genetics of macrothrombocytopenias (English)

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26 July 2017

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Hana Raslova

2

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author name string

Remi Favier

series ordinal

1

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26 July 2017

language of work or name

English

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publication date

5 May 2015

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British Journal of Haematology

26 July 2017

published in

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26 July 2017

volume

170

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26 July 2017

issue

5

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26 July 2017

page(s)

626-639

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Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome

26 July 2017

cites work

1 reference

Bernard-Soulier syndrome: an update

21 January 2018

1 reference

MYH10 protein expression in platelets as a biomarker of RUNX1 and FLI1 alterations.

21 January 2018

1 reference

Genetics of familial forms of thrombocytopenia

21 January 2018

1 reference

Proplatelet formation in heterozygous Bernard-Soulier syndrome type Bolzano.

21 January 2018

1 reference

Dynamin 2-dependent endocytosis is required for normal megakaryocyte development in mice

21 January 2018

1 reference

Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters

21 January 2018

1 reference

Heterogeneity of platelet functional alterations in patients with filamin A mutations.

21 January 2018

1 reference

Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters

21 January 2018

1 reference

Regulation of megakaryocyte maturation and platelet formation.

21 January 2018

1 reference

21 January 2018

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Outside-in signalling generated by a constitutively activated integrin αIIbβ3 impairs proplatelet formation in human megakaryocytes

21 January 2018

1 reference

Beware of hidden trains: simultaneous discovery of a MYH9-related disease and chronic lymphocytic leukaemia

21 January 2018

1 reference

The mouse mutation "thrombocytopenia and cardiomyopathy" (trac) disrupts Abcg5: a spontaneous single gene model for human hereditary phytosterolemia/sitosterolemia

21 January 2018

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The abnormal proplatelet formation in MYH9-related macrothrombocytopenia results from an increased actomyosin contractility and is rescued by myosin IIA inhibition.

21 January 2018

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Mutation in beta1-tubulin correlates with macrothrombocytopenia in Cavalier King Charles Spaniels

21 January 2018

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Gray platelet syndrome and defective thrombo-inflammation in Nbeal2-deficient mice.

21 January 2018

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A novel interaction between FlnA and Syk regulates platelet ITAM-mediated receptor signaling and function

21 January 2018

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A new feature of the MYH9-related syndrome: chronic transaminase elevation

21 January 2018

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Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation

21 January 2018

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Biochemical studies of two patients with the gray platelet syndrome. Selective deficiency of platelet alpha granules

21 January 2018

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A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the alphaIIbbeta3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia

21 January 2018

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New gene functions in megakaryopoiesis and platelet formation

21 January 2018

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Diagnosis of inherited platelet function disorders: guidance from the SSC of the ISTH.

21 January 2018

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Dominant inheritance of a novel integrin beta3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families

21 January 2018

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A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family

21 January 2018

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Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p

21 January 2018

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NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules

21 January 2018

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Fli-1 is required for murine vascular and megakaryocytic development and is hemizygously deleted in patients with thrombocytopenia

21 January 2018

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Selective impairment of platelet activation to collagen in the absence of GATA1

21 January 2018

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GNE myopathy associated with congenital thrombocytopenia: a report of two siblings

21 January 2018

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An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study

21 January 2018

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L718P mutation in the membrane-proximal cytoplasmic tail of beta 3 promotes abnormal alpha IIb beta 3 clustering and lipid microdomain coalescence, and associates with a thrombasthenia-like phenotype

21 January 2018

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A novel type of macrothrombocytopenia associated with a defect in α2,3-sialylation

21 January 2018

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FlnA-null megakaryocytes prematurely release large and fragile platelets that circulate poorly

21 January 2018

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Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome

21 January 2018

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Abnormal megakaryocyte development and platelet function in Nbeal2(-/-) mice

21 January 2018

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GPIbα regulates platelet size by controlling the subcellular localization of filamin

21 January 2018

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Platelet hyperreactivity explains the bleeding abnormality and macrothrombocytopenia in a murine model of sitosterolemia

21 January 2018

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Mutations in the cofilin partner Aip1/Wdr1 cause autoinflammatory disease and macrothrombocytopenia

21 January 2018

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Paris-Trousseau syndrome platelets in a child with Jacobsen's syndrome

21 January 2018

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Plant sterols cause macrothrombocytopenia in a mouse model of sitosterolemia.

21 January 2018

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Mapping of a gene for May-Hegglin anomaly to chromosome 22q.

21 January 2018

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Mutation of the beta1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly

21 January 2018

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Heterozygous ITGA2B R995W mutation inducing constitutive activation of the αIIbβ3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia

21 January 2018

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ACTN1 mutations cause congenital macrothrombocytopenia

21 January 2018

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TUBB1 mutation disrupting microtubule assembly impairs proplatelet formation and results in congenital macrothrombocytopenia

21 January 2018

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RUNX1-induced silencing of non-muscle myosin heavy chain IIB contributes to megakaryocyte polyploidization

21 January 2018

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Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome

21 January 2018

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A new form of macrothrombocytopenia induced by a germ-line mutation in the PRKACG gene

21 January 2018

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Identification of a novel point mutation in platelet glycoprotein Ibalpha, Gly to Ser at residue 233, in a Japanese family with platelet-type von Willebrand disease

21 January 2018

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Megakaryocyte-specific deletion of the protein-tyrosine phosphatases Shp1 and Shp2 causes abnormal megakaryocyte development, platelet production, and function

21 January 2018

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Sp1/Sp3 transcription factors regulate hallmarks of megakaryocyte maturation and platelet formation and function.

21 January 2018

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Mutation in the gene encoding the alpha chain of platelet glycoprotein Ib in platelet-type von Willebrand disease

21 January 2018

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A dominant-negative GFI1B mutation in the gray platelet syndrome

21 January 2018

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Nationwide patient registry for GNE myopathy in Japan

21 January 2018

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Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1

21 January 2018

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Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders

21 January 2018

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An Abnormal Platelet Glycoprotein Pattern in Three Cases of Glanzmann's Thrombasthenia

21 January 2018

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Analysis of the glycoprotein and protein composition of Bernard-Soulier platelets by single and two-dimensional sodium dodecyl sulfate-polyacrylamide gel electrophoresis

21 January 2018

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Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome.

21 January 2018

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Identification and functional characterization of a novel 27-bp deletion in the macroglycopeptide-coding region of the GPIBA gene resulting in platelet-type von Willebrand disease

21 January 2018

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Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations

21 January 2018

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Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21

21 January 2018

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Lessons in platelet production from inherited thrombocytopenias

21 January 2018

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Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease

21 January 2018

1 reference

21 January 2018

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Defective tubulin organization and proplatelet formation in murine megakaryocytes lacking Rac1 and Cdc42.

21 January 2018

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FLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia

21 January 2018

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Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia

21 January 2018

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Hematological abnormalities and 22q11.2 deletion syndrome

21 January 2018

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Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder.

21 January 2018

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Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations

21 January 2018

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Overexpression of the partially activated alpha(IIb)beta3D723H integrin salt bridge mutant downregulates RhoA activity and induces microtubule-dependent proplatelet-like extensions in Chinese hamster ovary cells.

21 January 2018

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A lineage-restricted and divergent beta-tubulin isoform is essential for the biogenesis, structure and function of blood platelets

21 January 2018

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A novel GATA1 mutation (Stop414Arg) in a family with the rare X-linked blood group Lu(a-b-) phenotype and mild macrothrombocytic thrombocytopenia

21 January 2018

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Myosin-II repression favors pre/proplatelets but shear activation generates platelets and fails in macrothrombocytopenia

21 January 2018

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A bifunctional enzyme catalyzes the first two steps in N-acetylneuraminic acid biosynthesis of rat liver. Molecular cloning and functional expression of UDP-N-acetyl-glucosamine 2-epimerase/N-acetylmannosamine kinase

21 January 2018

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GFI1B mutation causes a bleeding disorder with abnormal platelet function.

21 January 2018

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Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects

21 January 2018

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RhoA is essential for maintaining normal megakaryocyte ploidy and platelet generation

21 January 2018

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A A386G biallelic GPIbα gene mutation with anomalous behavior: a new mechanism suggested for Bernard-Soulier syndrome pathogenesis

21 January 2018

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Nonsense mutation in the glycoprotein Ib alpha coding sequence associated with Bernard-Soulier syndrome

21 January 2018

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Decreased adhesion of giant (Bernard-Soulier) platelets to subendothelium. Further implications on the role of the von Willebrand factor in hemostasis

21 January 2018

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Pseudo-von Willebrand's disease. An intrinsic platelet defect with aggregation by unmodified human factor VIII/von Willebrand factor and enhanced adsorption of its high-molecular-weight multimers

21 January 2018

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21 January 2018

Identifiers

DOI

10.1111/BJH.13478

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26 July 2017

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