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The vitamin D receptor (VDR also known as the calcitriol receptor) is a member of the nuclear receptor family of transcription factors. [5] Calcitriol (the active form of vitamin D , 1,25-(OH) 2 vitamin D 3 ) binds to VDR, which then forms a heterodimer with the retinoid-X receptor .
The VDR is widely distributed in tissues, and is not restricted to those tissues considered the classic targets of vitamin D. The VDR upon binding to 1,25(OH) 2 D heterodimerizes with other nuclear hormone receptors, in particular the family of retinoid X receptors. This VDR/RXR heterodimer complex binds to the specific VDRE in the promoters of ...
The synthesis rate of Taq polymerase is around 60 base pairs per second. Among the unmodified thermostable DNA polymerases, only the synthesis rate of KOD polymerase is above 100 base pairs per second (approx. 120 bp/s). [11] Among the modified thermostable DNA polymerases, various mutations have been described that increase the synthesis rate.
Lower concentrations Mg ++ will increase replication fidelity, while higher concentrations will introduce more mutations. [15] Denaturants(such as DMSO) can increase amplification specificity by destabilizing non-specific primer binding. Other chemicals, such as glycerol, are stabilizers for the activity of the polymerase during amplification.
V(D)J recombination (variable–diversity–joining rearrangement) is the mechanism of somatic recombination that occurs only in developing lymphocytes during the early stages of T and B cell maturation.
Mutation bias refers to a predictable or systematic difference in rates for different types of mutation.The types are most often defined by the molecular nature of the mutational change, but sometimes they are based on downstream effects, e.g., Ostrow, et al. [1] refer to "mutational bias for body size".
Mapping of several bone diseases onto levels of vitamin D (calcidiol) in the blood [6] Normal bone vs. osteoporosis. Vitamin D deficiency is typically diagnosed by measuring the concentration of the 25-hydroxyvitamin D in the blood, which is the most accurate measure of stores of vitamin D in the body.
The discovery that trinucleotide repeats could expand during intergenerational transmission and could cause disease was the first evidence that not all disease-causing mutations are stably transmitted from parent to offspring. [1] Trinucleotide repeat disorders and the related microsatellite repeat disorders affect about 1 in 3,000 people ...