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Patients with the prothrombin G20210A mutation who have not had a thromboembolic event are generally not treated with routine anticoagulation. However, counseling the patient is recommended in situations with increased thrombotic risk is recommended (pregnancy, surgery, and acute illness).
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 ...
The mutation of Pitx2 is not defined as the cause of these congenital heart defects, but currently perceived as a risk factor for their development. [28] Studies have also shown that Pitx2 displays an oncogenic role that is correlated with patients that have lung adenocarcinoma (LUAD).
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 .
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.
9451 13666 Ensembl ENSG00000172071 ENSMUSG00000031668 UniProt Q9NZJ5 Q9Z2B5 RefSeq (mRNA) NM_001313915 NM_004836 NM_010121 NM_001313918 RefSeq (protein) NP_001300844 NP_004827 NP_001300847 NP_034251 Location (UCSC) Chr 2: 88.56 – 88.69 Mb Chr 6: 70.82 – 70.88 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Eukaryotic translation initiation factor 2-alpha kinase 3, also known as ...
Eukaryotic Initiation Factor 2 (eIF2) is an eukaryotic initiation factor.It is required for most forms of eukaryotic translation initiation. eIF2 mediates the binding of tRNA i Met to the ribosome in a GTP-dependent manner. eIF2 is a heterotrimer consisting of an alpha (also called subunit 1, EIF2S1), a beta (subunit 2, EIF2S2), and a gamma (subunit 3, EIF2S3) subunit.
Human Chr 3. In terms of the cause of protein S deficiency it can be in inherited via autosomal dominance.A mutation in the PROS1 gene triggers the condition. The cytogenetic location of the gene in question is chromosome 3, specifically 3q11.1 [6] [7] Protein S deficiency can also be acquired due to vitamin K deficiency, treatment with warfarin, liver disease, kidney disease, chemotherapy ...
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