Human phenotypes associated with GATA-1 mutations (Q33381670)

26 July 2017

title

Human phenotypes associated with GATA-1 mutations (English)

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26 July 2017

3

Melissa A Kacena

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26 July 2017

Wendy A Ciovacco

1

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26 July 2017

Wendy H Raskind

series ordinal

2

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26 July 2017

language of work or name

English

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publication date

30 September 2008

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26 July 2017

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26 July 2017

volume

427

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26 July 2017

issue

1-2

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26 July 2017

page(s)

1-6

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Platelet pathology in carriers of the X-linked GATA-1 macrothrombocytopenia

26 July 2017

cites work

1 reference

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Why the disorder induced by GATA1 Arg216Gln mutation should be called "X-linked thrombocytopenia with thalassemia" rather than "X-linked gray platelet syndrome".

21 June 2018

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Platelet pathology in sex-linked GATA-1 dyserythropoietic macrothrombocytopenia II. Cytochemistry

21 June 2018

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Molecular insights into Down syndrome-associated leukemia

21 June 2018

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X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutation

21 June 2018

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

21 June 2018

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Distinct functions of dispersed GATA factor complexes at an endogenous gene locus

21 June 2018

1 reference

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GATA transcription factors in hematologic disease

21 June 2018

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Dyserythropoietic anemia and thrombocytopenia due to a novel mutation in GATA-1.

21 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2601579

FOG-1 recruits the NuRD repressor complex to mediate transcriptional repression by GATA-1.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2601579

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

21 June 2018

1 reference

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GATA1 in normal and malignant hematopoiesis

21 June 2018

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Origins of leukaemia in children with Down syndrome

21 June 2018

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AML-1 is required for megakaryocytic maturation and lymphocytic differentiation, but not for maintenance of hematopoietic stem cells in adult hematopoiesis

21 June 2018

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Effects of the R216Q mutation of GATA-1 on erythropoiesis and megakaryocytopoiesis

21 June 2018

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Cooperation between the GATA and RUNX factors Serpent and Lozenge during Drosophila hematopoiesis

21 June 2018

1 reference

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RUNX1 and GATA-1 coexpression and cooperation in megakaryocytic differentiation

21 June 2018

1 reference

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GATA-1 as a regulator of mast cell differentiation revealed by the phenotype of the GATA-1low mouse mutant

21 June 2018

1 reference

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Roles of hematopoietic transcription factors GATA-1 and GATA-2 in the development of red blood cell lineage

21 June 2018

1 reference

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

21 June 2018

1 reference

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Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome

21 June 2018

1 reference

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Core-binding factors in haematopoiesis and leukaemia

21 June 2018

1 reference

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GATA-factor dependence of the multitype zinc-finger protein FOG-1 for its essential role in megakaryopoiesis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2601579

Essential and instructive roles of GATA factors in eosinophil development

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2601579

Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2601579

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2601579

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2601579

Mapping of a syndrome of X-linked thrombocytopenia with Thalassemia to band Xp11-12: further evidence of genetic heterogeneity of X-linked thrombocytopenia.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2601579

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2601579

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2601579

Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2601579

A lineage-selective knockout establishes the critical role of transcription factor GATA-1 in megakaryocyte growth and platelet development

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2601579

FOG, a multitype zinc finger protein, acts as a cofactor for transcription factor GATA-1 in erythroid and megakaryocytic differentiation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2601579

Erythroid-cell-specific properties of transcription factor GATA-1 revealed by phenotypic rescue of a gene-targeted cell line

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2601579

Arrested development of embryonic red cell precursors in mouse embryos lacking transcription factor GATA-1

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2601579

Novel insights into erythroid development revealed through in vitro differentiation of GATA-1 embryonic stem cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2601579

Development of hematopoietic cells lacking transcription factor GATA-1

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2601579

The porphyrias: recent advances

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2601579

An erythrocyte-specific DNA-binding factor recognizes a regulatory sequence common to all chicken globin genes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2601579

Cloning of cDNA for the major DNA-binding protein of the erythroid lineage through expression in mammalian cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2601579

The major human erythroid DNA-binding protein (GF-1): primary sequence and localization of the gene to the X chromosome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2601579

Erythroid differentiation in chimaeric mice blocked by a targeted mutation in the gene for transcription factor GATA-1

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2601579

An inherited mutation leading to production of only the short isoform of GATA-1 is associated with impaired erythropoiesis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2601579

Natural history of GATA1 mutations in Down syndrome

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2601579

Electron microscopic and functional studies on platelets in gray platelet syndrome

31 October 2018

1 reference

PubMed

12 December 2020

1 reference

12 December 2020

Expression of an erythroid transcription factor in megakaryocytic and mast cell lineages

1 reference

PubMed

12 December 2020

Biology and outcome of childhood acute megakaryoblastic leukemia: a single institution's experience

1 reference

PubMed

12 December 2020

10.1016/J.GENE.2008.09.018

Identifiers

DOI

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26 July 2017

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26 July 2017

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