Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria. - Wikidata - wikimedia - TriplyDB

Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria.

Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria.

http://www.wikidata.org/entity/Q33373506

about

Effective gene therapy of mice with congenital erythropoietic porphyria is facilitated by a survival advantage of corrected erythroid cells Molecular basis of inherited microcytic anemia due to defects in iron acquisition or heme synthesis GATA family transcriptional factors: emerging suspects in hematologic disorders The biology of pediatric acute megakaryoblastic leukemia Erythro-megakaryocytic transcription factors associated with hereditary anemia Insights into GATA-1-mediated gene activation versus repression via genome-wide chromatin occupancy analysis Analysis of disease-causing GATA1 mutations in murine gene complementation systems Cross-talk of GATA-1 and P-TEFb in megakaryocyte differentiation.Transcriptional control of megakaryocyte development.Human phenotypes associated with GATA-1 mutations.Severe gastrointestinal bleeding and thrombocytopenia in a child with an anti-GATA1 autoantibody.Current Strategies in Diagnosis of Inherited Storage Pool Defects A management algorithm for congenital erythropoietic porphyria derived from a study of 29 cases.Genetics of familial forms of thrombocytopenia.Concomitant a novel ALAS2 mutation and GATA1 mutation in a newborn: a case report and review of the literature.Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis.GATA factor mutations in hematologic disease.Hans Gunther and his disease.Pleiotropic platelet defects in mice with disrupted FOG1-NuRD interaction N- and C-terminal transactivation domains of GATA1 protein coordinate hematopoietic program Reusable, extensible, and modifiable R scripts and Kepler workflows for comprehensive single set ChIP-seq analysis.Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.Normal and malignant megakaryopoiesis.Erythroid and megakaryocytic transformation.Congenital Erythropoietic Porphyria with Undescended Testis.GATA1 Binding Kinetics on Conformation-Specific Binding Sites Elicit Differential Transcriptional Regulation.Novel exon 2 α spectrin mutation and intragenic crossover: three morphological phenotypes associated with four distinct α spectrin defects.Advances in the understanding of haemoglobin switching.Role of genetic testing in the management of patients with inherited porphyria and their families.Advances in understanding the pathogenesis of congenital erythropoietic porphyria.Study on Hydroxyurea Response in Hemoglobinopathies Patients Using Genetic Markers and Liquid Erythroid Cultures.The potential role of cell penetrating peptides in the intracellular delivery of proteins for therapy of erythroid related disorders.Novel GATA1 mutation in residue D218 leads to macrothrombocytopenia and clinical bleeding problems.Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases.Systematic target function annotation of human transcription factors.GATA1 gene variants associated with thrombocytopenia and anemia.A puzzling mutation in congenital erythropoietic porphyria and an association with β-thalassaemia trait

P2860

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P2860

Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria.

http://www.wikidata.org/entity/Q33373506

description

2006 nî lūn-bûn

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2006 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

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2006 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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2006年の論文

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2006年論文

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2006年論文

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2006年論文

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2006年論文

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2006年論文

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2006年论文

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Congenital erythropoietic porp ...... usative for a human porphyria.

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Congenital erythropoietic porp ...... usative for a human porphyria.

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Congenital erythropoietic porp ...... usative for a human porphyria.

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Gerald J Spangrude

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James P Kushner

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John D Phillips

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Michael A Pulsipher

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P2860

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

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

X-linked thrombocytopenia caused by a novel mutation of GATA-1

X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction

GATA1 in normal and malignant hematopoiesis

Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria

GATA transcription factors in hematologic disease.

X-linked syndrome of platelet dysfunction, thrombocytopenia, and imbalanced globin chain synthesis with hemolysis.

Acquired somatic ATRX mutations in myelodysplastic syndrome associated with alpha thalassemia (ATMDS) convey a more severe hematologic phenotype than germline ATRX mutations.

Pseudohypoparathyroidism type Ib with disturbed imprinting in the GNAS1 cluster and Gsalpha deficiency in platelets.

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David P. Steensma

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