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GATA2 or GATA-binding factor 2 is a transcription factor, i.e. a nuclear protein which regulates the expression of genes. [5] It regulates many genes that are critical for the embryonic development , self-renewal , maintenance, and functionality of blood-forming , lymphatic system-forming , and other tissue-forming stem cells .
The difference is that GATA1/2/3 is required in development and differentiation of ectoderm derived tissues (such as hematopoietic and the central nervous system), while GATA 4/5/6 is for differentiation of endoderm derived tissues (such as embryonic stem cells of the heart and skin. [2] Mutations in the GATA gene leads to problems in the ...
Being the gene haploinsufficient, mutations that cause a reduction in the cellular levels of the gene's product, GATA2, are autosomal dominant. The GATA2 protein is a transcription factor critical for the embryonic development, maintenance, and functionality of blood-forming, lymphatic-forming, and other tissue-forming stem cells.
Other blood clotting pathway mutations that increase the risk of clots include factor V Leiden. Prothrombin G20210A was identified in the 1990s. [2] About 2% of Caucasians carry the variant, while it is less common in other populations. [1] It is estimated to have originated in Caucasians about 24,000 years ago. [3]
These autosomal dominant mutations cause a reduction, i.e. a haploinsufficiency, in the cellular levels of the gene's product, GATA2. The GATA2 protein is a transcription factor critical for the embryonic development, maintenance, and functionality of blood-forming, lympathic-forming, and other tissue-forming stem cells. In consequence of these ...
Hypoprothrombinemia can be the result of a genetic defect, may be acquired as the result of another disease process, or may be an adverse effect of medication.For example, 5-10% of patients with systemic lupus erythematosus exhibit acquired hypoprothrombinemia due to the presence of autoantibodies which bind to prothrombin and remove it from the bloodstream (lupus anticoagulant ...
Belzutifan is the first hypoxia-inducible factor-2 alpha inhibitor therapy approved in the US. [17] The US Food and Drug Administration (FDA) considers it to be a first-in-class medication . [ 18 ] Belzutifan is the first medication to be awarded an "innovation passport" from the UK Medicines and Healthcare products Regulatory Agency .
The central role of DNA damage and epigenetic defects in DNA repair genes in carcinogenesis. DNA damage is considered to be the primary cause of cancer. [17] More than 60,000 new naturally-occurring instances of DNA damage arise, on average, per human cell, per day, due to endogenous cellular processes (see article DNA damage (naturally occurring)).