Varaico: Literature-Extracted Genetic Variants

Gene:GATA1
Variant:p.V205M
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GATA1

NM_002049.4:p.V205M

Associated Papers

Enhancement of PRMT6 binding to a novel germline GATA1 mutation associated with congenital anemia.

Lu Y et al.

Haematologica, 2024

The role of GATA family transcriptional factors in haematological malignancies: A review.

Abunimye DA et al.

Medicine, 2024

A novel GATA1 variant p.G229D causing the defect of procoagulant platelet formation.

Ding B et al.

Thrombosis Research, 2024

GATA1 in Normal and Pathologic Megakaryopoiesis and Platelet Development.

Takasaki K et al.

Advances in Experimental Medicine and Biology, 2024

Gata1s mutant mice display persistent defects in the erythroid lineage.

Ling T et al.

Blood Advances, 2023

Gene silencing dynamics are modulated by transiently active regulatory elements.

Vermunt MW et al.

Molecular Cell, 2023

A Novel GATA1 Variant in the C-Terminal Zinc Finger Compared with the Platelet Phenotype of Patients with A Likely Pathogenic Variant in the N-Terminal Zinc Finger.

Bastida JM et al.

Cells, 2022

Novel GATA1 Variant Causing a Bleeding Phenotype Associated with Combined Platelet α-/δ-Storage Pool Deficiency and Mild Dyserythropoiesis Modified by a SLC4A1 Variant.

Jurk K et al.

Cells, 2022

Germline GATA1 exon 2 mutation associated with chronic cytopenia and a non-down syndrome transient abnormal myelopoiesis with clonal trisomy 21.

Camargo R et al.

Leukemia, 2022

An R307H substitution in GATA1 that prevents Ser310 phosphorylation causes severe fetal anemia.

Hetzer B et al.

Blood Advances, 2022

Genetics of inherited thrombocytopenias.

Warren JT et al.

Blood, 2022

The polymorphic landscape analysis of GATA1 exons uncovered the genetic variants associated with higher thrombocytopenia in dengue patients.

Al Rimon R et al.

Plos Neglected Tropical Diseases, 2022

Congenital anemia reveals distinct targeting mechanisms for master transcription factor GATA1.

Ludwig LS et al.

Blood, 2022

HDAC1 is required for GATA-1 transcription activity, global chromatin occupancy and hematopoiesis.

Yan B et al.

Nucleic Acids Research, 2021

GATA1 pathogenic variants disrupt MYH10 silencing during megakaryopoiesis.

Saultier P et al.

Journal of Thrombosis and Haemostasis : Jth, 2021

Inherited thrombocytopenias: history, advances and perspectives.

Nurden AT et al.

Haematologica, 2020

Phenotypic and genetic heterogeneity arising from a novel substitution at amino acid position Val205 in GATA1 related X-linked thrombocytopenia with dyserythropoietic anemia.

Jamwal M et al.

Blood Cells, Molecules & Diseases, 2020

GATA1 mutations in red cell disorders.

Ling T et al.

Iubmb Life, 2020

Prognostic significance of mutated genes in megakaryocytic disorders.

Asnafi AA et al.

Oncology Reviews, 2019

The Pleiotropic Effects of GATA1 and KLF1 in Physiological Erythropoiesis and in Dyserythropoietic Disorders.

Barbarani G et al.

Frontiers in Physiology, 2019

Fetal cerebral hemorrhage due to X-linked GATA1 gene mutation.

Bouchghoul H et al.

Prenatal Diagnosis, 2018

GATA1 gene variants associated with thrombocytopenia and anemia.

Freson K et al.

Platelets, 2017

GATA Transcription Factors: Basic Principles and Related Human Disorders.

Fujiwara T

The Tohoku Journal of Experimental Medicine, 2017

Hematopoietic transcription factor mutations: important players in inherited platelet defects.

Songdej N et al.

Blood, 2017

GATA factor mutations in hematologic disease.

Crispino JD et al.

Blood, 2017

Inherited platelet dysfunction and hematopoietic transcription factor mutations.

Songdej N et al.

Platelets, 2017

Molecular basis of inherited thrombocytopenias.

Savoia A

Clinical Genetics, 2016

Progress in understanding the diagnosis and molecular genetics of macrothrombocytopenias.

Favier R et al.

British Journal of Haematology, 2015

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1

Hematopoietic transcription factor mutations and inherited platelet dysfunction.

Songdej N et al.

F1000prime Reports, 2015

GATA family transcriptional factors: emerging suspects in hematologic disorders.

Gao J et al.

Experimental Hematology & Oncology, 2015

Erythro-megakaryocytic transcription factors associated with hereditary anemia.

Crispino JD et al.

Blood, 2014

Epigenetic and genetic mechanisms in red cell biology.

Hewitt KJ et al.

Current Opinion in Hematology, 2014

Lessons in platelet production from inherited thrombocytopenias.

Pecci A et al.

British Journal of Haematology, 2014

Novel GATA1 mutation in residue D218 leads to macrothrombocytopenia and clinical bleeding problems.

Hermans C et al.

Platelets, 2014

Transcriptional mechanisms underlying hemoglobin synthesis.

Katsumura KR et al.

Cold Spring Harbor Perspectives in Medicine, 2013

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

Campbell AE et al.

Blood, 2013

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

Singleton BK et al.

British Journal of Haematology, 2013

Genetics of familial forms of thrombocytopenia.

Balduini CL et al.

Human Genetics, 2012

Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach.

Iolascon A et al.

Haematologica, 2012

Blood group phenotypes resulting from mutations in erythroid transcription factors.

Singleton BK et al.

Current Opinion in Hematology, 2012

Cofactor-mediated restriction of GATA-1 chromatin occupancy coordinates lineage-specific gene expression.

Chlon TM et al.

Molecular Cell, 2012

Pleiotropic platelet defects in mice with disrupted FOG1-NuRD interaction.

Wang Y et al.

Blood, 2011

Mouse models of diseases of megakaryocyte and platelet homeostasis.

Carmichael CL et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2011

Role of the GATA-1/FOG-1/NuRD pathway in the expression of human beta-like globin genes.

Miccio A et al.

Molecular and Cellular Biology, 2010

PhenoHM: human-mouse comparative phenome-genome server.

Sardana D et al.

Nucleic Acids Research, 2010

20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants

GATA-1, G208S macrothrombocytes are deficient in talin: immunofluorescence studies.

White JG et al.

Platelets, 2009

Platelet structural pathology in a patient with the X-linked GATA-1, R216Q mutation.

White JG et al.

Platelets, 2009

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."