Gene mutations

Staphylococcus aureus is a major problem in both the clinical setting and within the community. S. aureus can quickly develop resistance to a wide range of antibiotics through a number of different mechanisms, of which, using transporters located in the cell membrane to pump antibiotics out of the cell is the most serious concern.

8p vibecca 01-10-2024 3 1   Download

The hereditary spastic paraplegias (HSPs) are a group of disorders characterised by progressive lower limb weakness and spasticity. This case highlights the challenge of distinguishing HSP from other chronic spinal cord diseases and emphasizes the role of genetic analysis in rare cases of spastic paraplegia.

4p viling 27-09-2024 2 2   Download

Hypertrophic cardiomyopathy (HCM) is a common genetic cardiovascular disease and a major cause of sudden death. It is also involved in increasing morbidity and mortality of various cardiovascular diseases. Genetic factors have been found to be important in determining the phenotypic manifestation of cardiac hypertrophy. However, only 50–60% of HCM patients have been identified as having pathogenic variants in known genes, suggesting that more studies are needed to find more disease genes.

15p xuanphongdacy06 18-09-2024 4 1   Download

Hemoglobinopathy is the most common monogenic disease worldwide. The aims of the current study were: To investigate some hematological characteristics of patients with hemoglobinopathies To detect the mutation of α-globin and β-globin genes, as well as the association between genotype and degree of anemia.

8p vifaye 20-09-2024 4 1   Download

Research characteristics of immunologic markersin pediatric all with genetic mutation in national institute of hematology and blood transfusion from 2016 to 2018. Cross-sectional descriptive on 189 pediatric patients aged 1-15 years old with newly diagnosis ALL.

7p vinatisu 29-08-2024 1 0   Download

To analyze the EGFR mutation index on the cancer blocs of the patients with non - small cell lung cancer (NSCLC) at the Department of Pathology - Hue Central Hospital. A prospective, cross-sectional descriptive study of 227 patients with advanced, metastatic non - small cell lung cancer who were mutated in the EGFR gene. The study were carried out on the cancer parrafin blocs stored in Pathology Department, Hue Central Hospital.

5p vinatisu 29-08-2024 0 0   Download

Severe congenital neutropenia (SCN) is an exceptionally rare genetic disorder associated with life-threatening bacterial infections. Among the several genetic variations related to SCN, heterozygous mutations in the ELANE gene encoding neutrophil elastase account for approximately 40 - 55% of the genetic causes.

6p vinatisu 29-08-2024 4 1   Download

This study presents the development of a software support system aimed at improving targeted treatment outcomes in non-small cell lung cancer (NSCLC) by utilizing genetic mutation analysis data. PubMed BERT model were generated to identify tumor gene mutated features associated with gene-drug responses.

14p vinatisu 23-08-2024 4 1   Download

In conclusion, sequence analysis may be useful for the rapid detection of STR resistance in MDR M. tuberculosis strains, which in turn could contribute to better control strategies of TB in Vietnam. Other molecular mechanisms associated with STR resistance in STR-resistant strains without mutations in the rpsL and rrs genes need to be further investigated.

11p dianmotminh02 03-05-2024 4 1   Download

The incidence of hypervirulent epidemic Clostridium difficile has increased around the world and now in Australia. Assays that are capable of rapidly identifying these strains would enable earlier diagnosis and timely infection control response. The aims of the first part of the study were to validate and develop a molecular technique for the rapid diagnosis of toxigenic C.

134p runthenight07 01-03-2023 9 3   Download

The research project deals with two different types of data for two separate analysis. The first analysis deals with normalised RNA-seq breast cancer data where machine learning techniques are used to classify and identify the biomarker of cancer. Second analysis deals with raw DNA methylated leukemia samples to determine the mutations.

102p runthenight04 02-02-2023 5 3   Download

There is no unified treatment standard for patients with extranodal NK/T-cell lymphoma (ENKTL). Cancer neoantigens are the result of somatic mutations and cancer-specific. Increased number of somatic mutations are associated with anti-cancer effects.

12p vielonmusk 21-01-2022 11 0   Download

The ESR1 gene encodes Estrogen Receptor alpha (ERα), which plays a role in the tumourigenesis of breast cancer. A single nucleotide polymorphism (SNP) in intron 1 of this gene called ESR1 PvuII (rs2234693) has been reported to increase the risk of breast cancer. This study aimed to investigate the ESR1 PvuII polymorphism as a prognostic and predictive factor guiding the choice of therapy for advanced breast cancer.

7p vielonmusk 21-01-2022 39 1   Download

The aim of this study was to analyze the level of CD33 expression in patients with newly diagnosed AML and determine its correlation with clinical characteristics. Methods: Samples were collected for analysis from AML patients at diagnosis. We evaluated the level of CD33 expression by flow cytometry analysis of bone marrow.

7p vielonmusk 21-01-2022 16 2   Download

BRCA gene mutations (BRCAm) have an impact on patients’ characteristics and clinical outcomes of ovarian cancer (OC). The frequency and patterns of BRCAm vary among countries and ethnicities. There are limited data from Saudi Arabia (SA); thus, this study aims to determine the frequency, pattern, and impact on patient characteristics and outcomes of BRCAm OC compared to wild-type BRCA (BRCAw) in Saudi women.

9p vielonmusk 21-01-2022 12 0   Download

Immune checkpoint inhibitors (ICIs) are currently one of the most promising therapy options in the field of oncology. Although the first pivotal ICI trial results were published in 2011, few biomarkers exist to predict their therapy outcome. PD-L1 expression and tumor mutational burden (TMB) were proven to be sometimes-unre‑ liable biomarkers.

13p vielonmusk 21-01-2022 13 1   Download

Bladder cancer is one of the most mortal cancers. Bladder cancer has distinct gene expression signature, highlighting altered gene expression plays important roles in bladder cancer etiology. However, the mechanism for how the regulatory disorder causes the altered expression in bladder cancer remains elusive.

10p vielonmusk 21-01-2022 9 0   Download

Research objective: Establish the genetic variants database of 04 genes CYP2C9, CYP2C19, CYP2D6 and CYP3A5 in Kinh Vietnamese. Identification of genotype and allele frequencies of 04 genes CYP2C9, CYP2C19, CYP2D6 and CYP3A5 in Kinh Vietnamese. Perform in silico functional analysis of novel variants.

27p extraenglish 24-05-2021 26 4   Download

Establish the genetic variants database of 04 genes CYP2C9, CYP2C19, CYP2D6 and CYP3A5 in Kinh Vietnamese. Identification of genotype and allele frequencies of 04 genes CYP2C9, CYP2C19, CYP2D6 and CYP3A5 in Kinh Vietnamese. Perform in silico functional analysis of novel variants.

27p capheviahe27 23-02-2021 5 3   Download

Analysis of mutation and protein expression of EGFR in patients with lung adenocarcinoma; investigation the hypermethylation frequency of EGFR, BRCA1, MGMT, MLH1, RASSF1A and correlation of the methylation between these genes with mutations and protein expression of EGFR.

27p capheviahe26 25-01-2021 19 4   Download