Intron a

Nghiên cứu này được thực hiện nhằm đánh giá đa hình đoạn intron 2 của gen Leptin (LEP) (g.1926C>T) và vùng 5’UTR của gen thyroglobulin (TG) (g.422C>T) ở tổ hợp bò lai Senepol x lai Brahman nuôi tại tỉnh Thừa Thiên Huế.

13p viritesh 02-04-2024 6 1   Download

Genome-wide association studies (GWAS) have identified more than 100 genetic loci associated with type 2 diabetes (T2D). However, the underlying biological mechanisms for many of these associations remain unknown. GWAS signals close to the glucokinase regulatory protein gene (GCKR) have been reported for lipid and glucose metabolism traits and the risk of T2D.

14p vioraclene 31-03-2024 3 2   Download

In ebook "Alternative splicing and disease" splicing of primary RNA transcript, i.e. removal of introns and joining of exons to produce mature mRNAs competent for translation into proteins, is a quasi-systematic step of gene expression in higher organisms. However, this process is not unequivocal but can follow alternate pathways.

265p tachieuhoa 28-01-2024 4 2   Download

To investigate the prevalence and spectrum of BRCA1 and BRCA2 mutations in Chinese Hakka patients with breast and ovarian cancer. Methods: A total of 1,664 breast or ovarian cancer patients were enrolled for genetic testing at our hospital. Germline mutations of the BRCA gene were analysed by next-generation sequencing, including the coding regions and exon intron boundary regions.

14p vimichaelfaraday 28-12-2023 8 3   Download

In addition to traditional methods, advanced biotechnologies, especially CRISPR/Cas9-mediated genome editing, have emerged as effective tools for improving important agronomic traits in rice. However, the critical step for utilizing these systems is to develope an effective system for rice transformation and regeneration.

11p vimulcahy 18-09-2023 4 3   Download

In this case study, we report a compound heterozygous condition with a rare concoction of four different variants (CD 3(T > C), CD41/42 (-CTTT), IVS II-16 (G > C), and IVS II-666 (C > T) in a single β-globin gene.

5p vigamora 23-05-2023 6 2   Download

Neuregulin 3 (NRG3) plays a key role in central nervous system development and is a strong candidate for human mental disorders. Thus, genetic variation in NRG3 may have some impact on a variety of phenotypes in non-mammalian vertebrates. Recently, genome-wide screening for short insertions and deletions in chicken (Gallus gallus) genomes has provided useful information about structural variation in functionally important genes.

10p vinarcissa 21-03-2023 7 1   Download

The novel organic cation transporter 2 (OCTN2) is the physiologically most important carnitine transporter in tissues and is responsible for carnitine absorption in the intestine, carnitine reabsorption in the kidney and distribution of carnitine between tissues. Genetic studies clearly demonstrated that the mouse OCTN2 gene is directly regulated by peroxisome proliferator-activated receptor α (PPARα).

9p vinarcissa 21-03-2023 3 1   Download

The aim of this study was to determine if variable number of tandem repeats (VNTR) in the second intron (STin2) of the serotonin transporter (SLC6A4) gene was associated with tobacco use disorder, successful smoking cessation, or smoking characteristics.

9p vinarcissa 21-03-2023 1 1   Download

Accumulation of galactosphingolipids is a general characteristic of Fabry disease, a lysosomal storage disorder caused by the deficient activity of α-galactosidase A encoded by the GLA gene. Although many polymorphic GLA haplotypes have been described, it is still unclear whether some of these variants are causative of disease symptoms.

13p vinarcissa 21-03-2023 1 1   Download

The genus Sphagnum is one of the richest taxa among the Turkish bryophytes. Up to now, it has been represented by 27 taxa in six sections (Sphagnum, Acutifolia, Squarrosa, Subsecunda, Cuspidata, and Rigida). In this study, an identification key for the section Sphagnum was prepared, and the section was investigated using phylogenetic analyses, with a main focus on Turkish bryophytes. This study provides the first sequence data of the trnL intron region for five species of the section Sphagnum from Turkey (namely S. centrale, S. divinum, S. medium, S. palustre, and S.

10p lyhuyenthu 31-01-2023 4 2   Download

In our previous genome-wide association study (GWAS) on the piglet splay leg (PSL) syndrome, the homer scaffolding protein 1 (HOMER1) was detected as a candidate gene. The aim of this work was to further verify the candidate gene by sequencing the gene and find the significantly associated mutation.

8p vihagrid 30-01-2023 4 3   Download

Whey acidic protein (WAP) is a major protein identified in the milk of several mammalian species with cysteine-rich domains known as four-disulfide cores (4-DSC). The organization of the eutherian WAP genes is highly conserved through evolution.

10p vihagrid 30-01-2023 3 3   Download

The disease gene of fragile X syndrome, FMR1 gene, encodes fragile X mental retardation protein (FMRP). The alternative splicing (AS) of FMR1 can affect the structure and function of FMRP. However, the biological functions of alternatively spliced isoforms remain elusive.

10p vihagrid 30-01-2023 8 3   Download

Bài viết Đa hình gen prolactin trên intron 1 ở vịt lai STAR53 trình bày khảo sát đa hình của gen prolactin trên vùng intron 1 của nhóm vịt lai Star53 (trống Star53×mái Biển) bằng kỹ thuật PCR-RFLP với tổng số 60 cá thể vịt lai (30 trống và 30 mái) được lấy mẫu máu để phân tích.

6p vipagani 24-10-2022 5 2   Download

Carriers of plasminogen activator inhibitor -1 (PAI-1) -675 genotype 5G/5G may be associated with lower preoperative PAI-1 plasma levels and higher blood loss after heart surgery using cardiopulmonary bypass (CPB). We speculate if polymorphisms of PAI-1 -844 A/G and angiotensin converting enzyme (ACE) intron 16 I/D also might promote fibrinolysis and increase postoperative bleeding.

8p viisaacnewton 25-04-2022 13 1   Download

Alternative splicing, particularly through intron retention and exon skipping, is a major layer of pre-translational regulation in eukaryotes. While intron retention is believed to be the most prevalent mode across non-animal eukaryotes, animals have unusually high rates of exon skipping. However, when and how this high prevalence of exon skipping evolved is unknown.

21p vigalileogalilei 27-02-2022 9 1   Download

Single nucleotide variants (SNVs) in intronic regions have yet to be systematically investigated for their diseasecausing potential. Using known pathogenic and neutral intronic SNVs (iSNVs) as training data, we develop the RegSNPs-intron algorithm based on a random forest classifier that integrates RNA splicing, protein structure, and evolutionary conservation features.

16p vielonmusk 30-01-2022 20 0   Download

While intron retention (IR) is now widely accepted as an important mechanism of mammalian gene expression control, it remains the least studied form of alternative splicing. To delineate conserved features of IR, we performed an exhaustive phylogenetic analysis in a highly purified and functionally defined cell type comprising neutrophilic granulocytes from five vertebrate species spanning 430 million years of evolution.

15p vialfrednobel 29-01-2022 2 0   Download

Genotyping of large populations through genome-wide association studies (GWAS) has successfully identified many genomic variants associated with traits or disease risk. Unexpectedly, a large proportion of GWAS single nucleotide polymorphisms (SNPs) and associated haplotype blocks are in intronic and intergenic regions, hindering their functional evaluation.

16p vialfrednobel 29-01-2022 10 0   Download