نتایج جستجو برای: genetic variants
تعداد نتایج: 690127 فیلتر نتایج به سال:
Background: IFN-g is one of the most essential and fundamental player in initiation and development of T1DM. This mediator belongs to T Helper-1(Th1) class of cytokines and exerts stimulation and differentiation of naïve T cells towards Th1 cells and meanwhile inhibits differentiation and proliferation of Th2 cells. These effects are highly important in induction and progression of cell-mediate...
Background: The clinical phenotyping of patients with achromatopsia harboring variants in phosphordiesterase 6C (PDE6C) has poorly been described in the literature. PDE6C encodes the catalytic subunit of the cone phosphodiesterase, which hydrolyzes the cyclic guanosine monophosphate that proceeds with the hyperpolarization of photoreceptor cell membranes, as the final step of the phototransduct...
csn1s1is one of the major genes encoding milk proteins of mammals. in this study we determined allele frequencies of csn1s1-5` flanking region as well as exon 17 variants and their effects on milk traits in three indigenous cattle breeds mazandarani, golpaygani (bos indicus) and sarabi (bos taurus) and holstein cattle in iran. csn1s1*b variant was nearly fixed in holstein but ranged from 0.40 t...
Genetic variations found in the coding and non-coding regions of a gene are known to influence the structure as well as the function of proteins. Serine palmitoyltransferase long chain subunit 1 a member of α-oxoamine synthase family is encoded by SPTLC1 gene which is a subunit of enzyme serine palmitoyltransferase (SPT). Mutations in SPTLC1 have been associated with hereditary sensory and auto...
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