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Factor V Leiden (rs6025 or F5 p.R506Q[1]) is a variant (mutated form) of human factor V (one of several substances that helps blood clot), which causes an increase in blood clotting (hypercoagulability). Due to this mutation, protein C, an anticoagulant protein that normally inhibits the pro-clotting activity of factor V, is not able to bind ...
Diabetes mellitus, often known simply as diabetes, is a group of common endocrine diseases characterized by sustained high blood sugar levels. [10][11] Diabetes is due to either the pancreas not producing enough insulin, or the cells of the body becoming unresponsive to the hormone's effects. [12] Classic symptoms include thirst, polyuria ...
Factor V. Coagulation factor V (Factor V), also less commonly known as proaccelerin or labile factor, is a protein involved in coagulation, encoded, in humans, by F5 gene. [5] In contrast to most other coagulation factors, it is not enzymatically active but functions as a cofactor. [5] Factor V deficiency leads to predisposition for hemorrhage ...
Three major single-chromosome mutations: deletion (1), duplication (2) and inversion (3). In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. [ 1 ] Viral genomes contain either DNA or RNA.
Hypoglycemia (American English), also spelled hypoglycaemia or hypoglycæmia (British English), sometimes called low blood sugar, is a fall in blood sugar to levels below normal, typically below 70 mg/dL (3.9 mmol/L). [ 1 ][ 3 ] Whipple's triad is used to properly identify hypoglycemic episodes. [ 2 ]
Polygenic. Genetic cause and mechanism of type 2 diabetes is largely unknown. However, single nucleotide polymorphism (SNP) is one of many mechanisms that leads to increased risk for type 2 diabetes. To locate genes and loci that are responsible for the risk of type 2 diabetes, genome wide association studies (GWAS) was utilized to compare the ...
Diabetes and deafness (DAD) or maternally inherited diabetes and deafness (MIDD) or mitochondrial diabetes is a subtype of diabetes which is caused from a mutation in mitochondrial DNA, which consists of a circular genome. It is associated with the genes MT-TL1, MT-TE, and MT-TK. [1] The point mutation at position 3243A>G, in gene MT-TL1 ...
Type 2 diabetes (T2D), formerly known as adult-onset diabetes, is a form of diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin. [6] Common symptoms include increased thirst, frequent urination, fatigue and unexplained weight loss. [3]