Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.T355del1
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GATA2

NM_032638.5:p.T355del1

Associated Papers

GATA2 deficiency syndrome: A decade of discovery.

Homan CC et al.

Human Mutation, 2021

A novel germline GATA2 frameshift mutation with a premature stop codon in a family with congenital sensory hearing loss and myelodysplastic syndrome.

Nakazawa H et al.

International Journal of Hematology, 2021

Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance.

Oleaga-Quintas C et al.

Journal of Clinical Immunology, 2021

Human GATA2 mutations and hematologic disease: how many paths to pathogenesis?

Bresnick EH et al.

Blood Advances, 2020

Germline predisposition in myeloid neoplasms: Unique genetic and clinical features of GATA2 deficiency and SAMD9/SAMD9L syndromes.

Sahoo SS et al.

Best Practice & Research. Clinical Haematology, 2020

GATA2 mutations in myeloid malignancies: Two zinc fingers in many pies.

Leubolt G et al.

Iubmb Life, 2020

Differential effects on gene transcription and hematopoietic differentiation correlate with GATA2 mutant disease phenotypes.

Chong CE et al.

Leukemia, 2018

28642594 (PubMed )
Supplement: leu2017196x1.docx

GATA2 gene analysis in several forms of hematological malignancies including familial aggregations.

Hamadou WS et al.

Annals of Hematology, 2017

Heterogeneity of GATA2-related myeloid neoplasms.

Hirabayashi S et al.

International Journal of Hematology, 2017

GATA2 deficiency and related myeloid neoplasms.

Wlodarski MW et al.

Seminars in Hematology, 2017

Familial Myelodysplastic/Acute Leukemia Syndromes-Myeloid Neoplasms with Germline Predisposition.

Baptista RLR et al.

Frontiers in Oncology, 2017

Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents.

Wlodarski MW et al.

Blood, 2016

Characterisation of a compound in-cis GATA2 germline mutation in a pedigree presenting with myelodysplastic syndrome/acute myeloid leukemia with concurrent thrombocytopenia.

Hahn CN et al.

Leukemia, 2015

Spectrum of myeloid neoplasms and immune deficiency associated with germline GATA2 mutations.

Mir MA et al.

Cancer Medicine, 2015

GATA2 germline mutations impair GATA2 transcription, causing haploinsufficiency: functional analysis of the p.Arg396Gln mutation.

Cortés-Lavaud X et al.

Journal of Immunology (baltimore, Md. : 1950), 2015

GATA family transcriptional factors: emerging suspects in hematologic disorders.

Gao J et al.

Experimental Hematology & Oncology, 2015

Heritable GATA2 mutations associated with familial AML-MDS: a case report and review of literature.

Gao J et al.

Journal of Hematology & Oncology, 2014

The evolution of cellular deficiency in GATA2 mutation.

Dickinson RE et al.

Blood, 2014

GATA2 mutations are frequent in intermediate-risk karyotype AML with biallelic CEBPA mutations and are associated with favorable prognosis.

Fasan A et al.

Leukemia, 2013

Master regulatory GATA transcription factors: mechanistic principles and emerging links to hematologic malignancies.

Bresnick EH et al.

Nucleic Acids Research, 2012

Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia.

Holme H et al.

British Journal of Haematology, 2012

Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature.

Kazenwadel J et al.

Blood, 2012

Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia.

Hahn CN et al.

Nature Genetics, 2011

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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."