Molecular basis of inherited thrombocytopenias (Q33422658)

26 July 2017

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title

Molecular basis of inherited thrombocytopenias (English)

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26 July 2017

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A Savoia

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7 May 2015

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26 July 2017

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26 July 2017

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26 July 2017

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26 July 2017

page(s)

154-162

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Genetics of familial forms of thrombocytopenia

26 July 2017

cites work

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Megakaryocytes promote murine osteoblastic HSC niche expansion and stem cell engraftment after radioablative conditioning.

21 January 2018

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Interpreting the developmental dance of the megakaryocyte: a review of the cellular and molecular processes mediating platelet formation

21 January 2018

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The role of apoptosis in megakaryocytes and platelets

21 January 2018

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Platelets: production, morphology and ultrastructure

21 January 2018

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Congenital amegakaryocytic thrombocytopenia: clinical presentation, diagnosis, and treatment

21 January 2018

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Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia

21 January 2018

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Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations.

21 January 2018

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An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia

21 January 2018

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Exome sequencing reveals a thrombopoietin ligand mutation in a Micronesian family with autosomal recessive aplastic anemia.

21 January 2018

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3q26.33-3q27.2 microdeletion: a new microdeletion syndrome?

21 January 2018

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Confirmation and further delineation of the 3q26.33-3q27.2 microdeletion syndrome

21 January 2018

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Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation

21 January 2018

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Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

21 January 2018

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Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

21 January 2018

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Familial myelodysplastic syndromes: a review of the literature

21 January 2018

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Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia

21 January 2018

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Disease mutations in RUNX1 and RUNX2 create nonfunctional, dominant-negative, or hypomorphic alleles.

21 January 2018

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Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.

21 January 2018

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Ubiquitin/proteasome-rich particulate cytoplasmic structures (PaCSs) in the platelets and megakaryocytes of ANKRD26-related thrombo-cytopenia

21 January 2018

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Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.

21 January 2018

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Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation

21 January 2018

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Recurring mutations found by sequencing an acute myeloid leukemia genome

21 January 2018

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A missense mutation in ANKRD26 segregates with thrombocytopenia

21 January 2018

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ETV6 fusion genes in hematological malignancies: a review

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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Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy

21 January 2018

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Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia.

21 January 2018

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The TEL/ETV6 gene is required specifically for hematopoiesis in the bone marrow

21 January 2018

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Tel/Etv6 is an essential and selective regulator of adult hematopoietic stem cell survival

21 January 2018

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Differentiation-dependent interactions between RUNX-1 and FLI-1 during megakaryocyte development.

21 January 2018

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The 11q terminal deletion disorder: a prospective study of 110 cases

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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Genome-wide analysis of simultaneous GATA1/2, RUNX1, FLI1, and SCL binding in megakaryocytes identifies hematopoietic regulators.

21 January 2018

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Inherited thrombocytopenia due to GATA-1 mutations

21 January 2018

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Analysis of disease-causing GATA1 mutations in murine gene complementation systems

21 January 2018

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A dominant-negative GFI1B mutation in the gray platelet syndrome

21 January 2018

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GFI1B mutation causes a bleeding disorder with abnormal platelet function.

21 January 2018

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Gfi1b:green fluorescent protein knock-in mice reveal a dynamic expression pattern of Gfi1b during hematopoiesis that is largely complementary to Gfi1.

21 January 2018

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

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

21 January 2018

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Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency

21 January 2018

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

21 January 2018

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Gray platelet syndrome: proinflammatory megakaryocytes and α-granule loss cause myelofibrosis and confer metastasis resistance in mice

21 January 2018

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Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias

21 January 2018

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Alteration of liver enzymes is a feature of the MYH9-related disease syndrome.

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

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21 January 2018

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Defects in cell adhesion and the visceral endoderm following ablation of nonmuscle myosin heavy chain II-A in mice

21 January 2018

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Targeted disruption of mouse ortholog of the human MYH9 responsible for macrothrombocytopenia with different organ involvement: hematological, nephrological, and otological studies of heterozygous KO mice

21 January 2018

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Megakaryocyte-restricted MYH9 inactivation dramatically affects hemostasis while preserving platelet aggregation and secretion.

21 January 2018

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Mouse models of MYH9-related disease: mutations in nonmuscle myosin II-A.

21 January 2018

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The May-Hegglin anomaly gene MYH9 is a negative regulator of platelet biogenesis modulated by the Rho-ROCK pathway

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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Wiskott-Aldrich syndrome: a comprehensive review

21 January 2018

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Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia

21 January 2018

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Characteristics and outcome of early-onset, severe forms of Wiskott-Aldrich syndrome

21 January 2018

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X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options

21 January 2018

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Deficiency in the Wiskott-Aldrich protein induces premature proplatelet formation and platelet production in the bone marrow compartment

21 January 2018

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ACTN1 mutations cause congenital macrothrombocytopenia

21 January 2018

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21 January 2018

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Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations

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

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

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

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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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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The filamins: organizers of cell structure and function

21 January 2018

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Glycoprotein Ibalpha forms disulfide bonds with 2 glycoprotein Ibbeta subunits in the resting platelet

21 January 2018

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Spectrum of the mutations in Bernard-Soulier syndrome

21 January 2018

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Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation)

21 January 2018

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Proplatelet formation in heterozygous Bernard-Soulier syndrome type Bolzano.

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 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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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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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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Demonstration of novel gain-of-function mutations of αIIbβ3: association with macrothrombocytopenia and glanzmann thrombasthenia-like phenotype

21 January 2018

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Regulation of proplatelet formation and platelet release by integrin alpha IIb beta3.

21 January 2018

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A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia.

21 January 2018

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Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics

21 January 2018

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21 January 2018

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Dynamic Visualization of Thrombopoiesis Within Bone Marrow

21 January 2018

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21 January 2018

Identifiers

DOI

10.1111/CGE.12607

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26 July 2017

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