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It is due to a specific gene mutation in which a guanine is changed to an adenine at position 20210 of the DNA of the prothrombin gene. Other blood clotting pathway mutations that increase the risk of clots include factor V Leiden. Prothrombin G20210A was identified in the 1990s. [2]
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.
Runt-related transcription factor 2 (RUNX2) also known as core-binding factor subunit alpha-1 (CBF-alpha-1) is a protein that in humans is encoded by the RUNX2 gene. RUNX2 is a key transcription factor associated with osteoblast differentiation .
Prothrombin G20210A is not usually accompanied by other factor mutations (i.e., the most common is factor V Leiden). The gene may be inherited heterozygous (1 pair), or much more rarely, homozygous (2 pairs), and is not related to gender or blood type. Homozygous mutations increase the risk of thrombosis more than heterozygous mutations, but ...
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.
Interferon regulatory factor 2 binding protein like is a protein that in humans is encoded by the IRF2BPL gene. [ 5 ] [ 6 ] [ 7 ] Mutations are associated with neurological problems . [ 8 ] More specifically, mutations of the gene cause the NEDAMSS syndrome, whose abbreviation stands for NEurodevelopmental Disorder with regression, Abnormal ...
Myocyte-specific enhancer factor 2C also known as MADS box transcription enhancer factor 2, polypeptide C is a protein that in humans is encoded by the MEF2C gene. [ 4 ] [ 5 ] MEF2C is a transcription factor in the Mef2 family.
EZH2, as a part of PRC2, catalyzes trimethylation of H3K27 (), which is a histone modification that has been characterized as part of the histone code.[16] [20] [21] [22] The histone code is the theory that chemical modifications, such as methylation, acetylation, and ubiquitination, of histone proteins play distinctive roles in epigenetic regulation of gene transcription.
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