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• W1998170206 abstract "GATA-1 is one of the six members of the GATA gene family, a group of related transcription factors discovered in the 1980s. In the past few decades, the crucial role of GATA-1 in normal human hematopoiesis has been delineated. As would be expected, mutations in GATA-1 have subsequently been found to have important clinical significance, and are directly linked to deregulated formation of certain blood cell lineages. This paper reviews the functional consequences of GATA-1 mutations by linking specific errors in the gene, or its downstream protein products, to documented human diseases. These five human diseases are: X-linked thrombocytopenia (XLT), X-linked thrombocytopenia with thalassemia (XLTT), congenital erythropoietic porphyria (CEP), transient myeloproliferative disorder (TMD) and acute megarakaryoblastic leukemia (AMKL) associated with Trisomy 21, and, lastly, a particular subtype of anemia associated with the production of GATA-1s, a shortened, mutant isoform of the wild-type GATA-1. The different phenotypic expressions associated with GATA-1 mutations illustrate the integral function of the transcription factor in overall body homeostasis. Furthermore, these direct genotype-phenotype correlations reinforce the importance of unraveling the human genome, as such connections may lead to important therapeutic or preventive therapies." @default.
• W1998170206 created "2016-06-24" @default.
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• W1998170206 date "2008-12-01" @default.
• W1998170206 modified "2023-10-16" @default.
• W1998170206 title "Human phenotypes associated with GATA-1 mutations" @default.
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• W1998170206 doi "https://doi.org/10.1016/j.gene.2008.09.018" @default.
• W1998170206 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2601579" @default.
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