نتایج جستجو برای: allele substitution effect
تعداد نتایج: 1808406 فیلتر نتایج به سال:
We previously reported the association between prothrombin (F2), encoding a stone inhibitor protein - urinary prothrombin fragment 1 (UPTF1), and the risk of kidney stone disease in Northeastern Thai patients. To identify specific F2 variation responsible for the kidney stone risk, we conducted sequencing analysis of this gene in a group of the patients with kidney stone disease. Five intronic ...
Germline variation in genes that encode the human T cell receptors (TCRs) may have an important influence in shaping the immune T cell repertoire. In this report we describe a frequent null allele of the human V beta 18 gene, resulting from a nucleotide substitution that creates a stop codon (CGA<-->TGA). Approximately 11% of the population tested was homozygous for this null allele, indicating...
Leptin is the hormone product of the obese gene synthesized and secreted predominantly by white adipocytes. It functions as a lipostatic signal regulating BW, food intake, energy expenditure, reproduction, and certain immune system functions. Although previous studies have identified polymorphisms in the coding regions of the leptin gene in cattle that show considerable associations with feed i...
Alpha(1,2)-fucosyltransferase catalyzes the transfer of fucose to the C-2 position of galactose on type II precursor substrate Gal beta1-4GlcNAc beta1-R. It plays an important biological role in the formation of H antigen, a precursor oligosaccharide for both A and B antigens on red blood cells. Aberration of alpha(1,2)-fucosyltransferase activity by gene mutations results in decreased synthesi...
In order to defend against microbial infection, plants employ a complex immune system that relies partly on resistance (R) proteins that initiate intricate signaling cascades upon pathogen detection. The resistance signaling network utilized by plants is only partially characterized. A genetic screen conducted to identify novel defense regulators involved in this network resulted in the isolati...
We investigated the natural variations in the flag leaf morphology of rice. We conducted a principal component analysis based on nine flag leaf morphology traits using 103 accessions from the National Institute of Agrobiological Sciences Core Collection. The first component explained 39% of total variance, and the variable with highest loading was the width of the flag leaf (WFL). A genome-wide...
Germline variation in genes that encode the human T cell receptors (TCRs) may have an important influence in shaping the immune T cell repertoire. In this report we describe a frequent null allele of the human VB18 gene, resulting from a nucleotide substitution that creates a stop codon (CGA~ Approximately 11% of the population tested was homozygous for this null allele, indicating that this is...
The XPD gene product has a dual function in basal transcription and in nucleotide excision repair. We have previously reported that two polymorphisms in the gene, one silent mutation in codon 156 of exon 6 and one giving rise to a Lys-->Gln substitution in codon 751 of exon 23, showed signs of being associated with basal cell carcinoma in a Scandinavian study group of psoriasis patients and non...
The Cu substitution effect on the superconductivity of LiFeAs has been studied in comparison with Co/Ni substitution. It is found that the shrinking rate of the lattice parameter c for Cu substitution is much smaller than that of Co/Ni substitution. This is in conjugation with the observation of ARPES that shows almost the same electron and hole Fermi surfaces (FSs) size for undoped and Cu subs...
Many agronomic traits that are important in rice breeding controlled by multiple genes. The extensive time and effort devoted so far to identifying selecting such genes still not enough target practical Japan because of a lack suitable plant materials which efficiently detect validate beneficial alleles from diverse genetic resources. To facilitate the comprehensive analysis variation among Asi...
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