Gene frequency
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To determine the genotype frequency of the STAT6 rs324015 polymorphism and its association with cancer risk in hepatitis B virus (HBV) - related hepatocellular carcinoma (HCC) patients.
10p vijaychest 16-05-2024 5 1 Download
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For the majority of rare clinical missense variants, pathogenicity status cannot currently be classified. Classical homocystinuria, characterized by elevated homocysteine in plasma and urine, is caused by variants in the cystathionine beta-synthase (CBS) gene, most of which are rare. With early detection, existing therapies are highly effective.
18p vibransone 28-03-2024 5 2 Download
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APOBEC-driven mutagenesis and functional positive selection of mutated genes may synergistically drive the higher frequency of some hotspot driver mutations compared to other mutations within the same gene, as we reported for FGFR3 S249C. Only a few APOBEC-associated driver hotspot mutations have been identified in bladder cancer (BCa).
20p vibransone 28-03-2024 6 2 Download
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In high-grade serous ovarian cancer (HGSOC), intrinsic and/or acquired resistance against platinumcontaining chemotherapy is a major obstacle for successful treatment. A low frequency of somatic mutations but frequent epigenetic alterations, including DNA methylation in HGSOC tumors, presents the cancer epigenome as a relevant target for innovative therapy.
15p vioraclene 31-03-2024 4 2 Download
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Enabled by high-throughput sequencing approaches, epithelial cancers across a range of tissue types are seen to harbor gene fusions as integral to their landscape of somatic aberrations. Although many gene fusions are found at high frequency in several rare solid cancers, apart from fusions involving the ETS family of transcription factors which have been seen in approximately 50 % of prostate cancers, several other common solid cancers have been shown to harbor recurrent gene fusions at low frequencies.
18p vioraclene 31-03-2024 3 0 Download
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Many carcinomas have recurrent chromosomal aneuploidies specific to the tissue of tumor origin. The reason for this specificity is not completely understood. Methods: In this study, we looked at the frequency of chromosomal arm gains and losses in different cancer types from the The Cancer Genome Atlas (TCGA) and compared them to the mean gene expression of each chromosome arm in corresponding normal tissues of origin from the Genotype-Tissue Expression (GTEx) database, in addition to the distribution of tissue-specific oncogenes and tumor suppressors on different chromosome arms.
16p vibransone 28-03-2024 2 2 Download
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Low-frequency variants play an important role in breast cancer (BC) susceptibility. Gene-based methods can increase power by combining multiple variants in the same gene and help identify target genes.
18p vicwell 29-02-2024 2 1 Download
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Dravet syndrome is a severe epilepsy disorder characterized by drug-resistant seizures and cognitive dysfunction, often caused by SCN1A gene mutations. It leads to neurodevelopmental delays and motor, behavioral, and cognitive impairments, with a high mortality rate.
6p vitiki 30-01-2024 4 2 Download
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To determine the frequency of H1047R mutation on exon 20 PIK3CA gene in the plasma of hormone recepter positive (HR+) breast cancer (BC) women and its relationship with clinical characteristics of these patients. Subjects: Plasma was separated from venous blood of 141 female HR+ BC patients, have been treating at 108 Military Central Hospital from June 2021 to June 2023.
9p vigeorge 06-12-2023 2 2 Download
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Productivity of many crops is highly vulnerable to extreme external conditions. Environmental stress factors such as drought and salinity have become more and more serious due to climate change and appear in many areas worldwide with higher frequency.
8p vimulcahy 18-09-2023 2 2 Download
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The allele frequencies and phenotypic distributions of the five important CYP genes in the Vietnamese population are similar to those in East Asia while significantly different from other populations. In silico analysis also provided consistent results with previous experimental studies.
16p vimulcahy 18-09-2023 5 3 Download
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This study aimed to estimate the allelic and genotypic frequencies of single nucleotide polymorphisms (SNPs) of MC4R (melanocortin-4- receptor gene) and PIT1 (pituitary specific transcription factor-1) genes, and their additive dominance genetic effects on production and carcass traits in Duroc pigs.
7p viengels 25-08-2023 9 2 Download
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HLA (Human Leukocyte Antigen) gene is located on chromosome 6’s short arm, including several loci. HLA genotyping is necessary for transplantation, especially in hematopoietic stem cell transplantation. A crosssectional study to determine the frequency of HLA-A, HLA-B, and HLA-DRB1 alleles of 122 patients admitted to the National Children’s Hospital for Hematopoietic stem cell transplantation from the year between 2010 and 2020.
8p vihawkeye 26-05-2023 7 4 Download
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Bangladesh lies in the global thalassemia belt, which has a defined mutational hot-spot in the betaglobin gene. The high carrier frequencies of beta-thalassemia trait and hemoglobin E-trait in Bangladesh necessitate a reliable DNA-based carrier screening approach that could supplement the use of hematological and electrophoretic indices to overcome the barriers of carrier screening.
12p vinarcissa 21-03-2023 2 1 Download
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Congenital hearing loss (CHL) is diagnosed in 1 – 2 newborns in 1000, genetic factors contribute to two thirds of CHL cases in industrialised countries. Mutations of the GJB2 gene located in the DFNB1 locus (13q11-12) are a major cause of CHL worldwide.
12p vinarcissa 21-03-2023 4 1 Download
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Previously, it was shown that the HFE gene (associated with human hereditary hemochromatosis) has several haplotypes of intronic polymorphisms. Some haplotype frequencies are race specific and hence can be used in phylogenetic analysis.
13p vinarcissa 21-03-2023 2 1 Download
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Outcome of Mycobacterium tuberculosis (Mtb) infection is affected by virulence of the infecting strain of Mtb, host environment, co-morbidities, and the genetic composition of the host, specifically the presence or absence of genes involved in immune responses/regulation.
7p vinarcissa 21-03-2023 2 1 Download
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The structure of haplogroup H reveals significant differences between the western and eastern edges of the Mediterranean, as well as between the northern and southern regions. Human populations along the westernmost Mediterranean coasts, which were settled by individuals from two continents separated by a relatively narrow body of water, show the highest frequencies of mitochondrial haplogroup H.
14p vinarcissa 21-03-2023 4 1 Download
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This study was designed to investigate epidermal growth factor receptor (EGFR) mutation types affecting lung cancer treatment in patients in Xinjiang, China. We detected and analyzed differences in the EGFR mutation points of Uighur and Han patients with lung adenocarcinoma.
5p vinarcissa 21-03-2023 4 1 Download
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Distribution of allelic and genotypic frequencies of NAT2 and CYP2E1 variants in Moroccan population
Several pathogenesis and genetic factors influence predisposition to antituberculosis drug-induced hepatotoxicity (ATDH) especially for isoniazid (INH). However, the major susceptibility genes for ATDH are N-acetyltransferase 2 (NAT2) and cytochrome P450 2E1 (CYP2E1).
6p vinarcissa 21-03-2023 6 1 Download