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Gene mutation
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Germline mutations in BRCA1 and BRCA2 genes are among the main causes of hereditary ovarian cancer. Identifying these mutations may reduce cancer risk, facilitate early detection, and enable personalized treatment.
6p
vishanshan
27-06-2024
1
1
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Predicting short-term efficacy and intracranial progression-free survival (iPFS) in epidermal growth factor receptor gene mutated (EGFR-mutated) lung adenocarcinoma patients with brain metastases who receive third-generation epidermal growth factor receptor tyrosine kinase inhibitor (EGFR-TKI) therapy was of great significance for individualized treatment.
15p
vishanshan
27-06-2024
1
1
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KRAS is the undisputed champion of oncogenes, and despite its prominent role in oncogenesis as mutated gene, KRAS mutation appears infrequent in gliomas. Nevertheless, gliomas are considered KRAS-driven cancers due to its essential role in mouse malignant gliomagenesis. Glioblastoma is the most lethal primary brain tumor, often associated with disturbed RAS signaling.
11p
vishanshan
27-06-2024
1
1
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Ras gene mutation and/or overexpression are drivers in the progression of cancers, including colorectal cancer. Blocking the Ras signaling has become a significant strategy for cancer therapy. Previously, we constructed a recombinant scFv, RGD-p21Ras-scFv by linking RGD membrane-penetrating peptide gene with the anti-p21Ras scFv gene.
16p
vishanshan
27-06-2024
1
1
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This study aimed to evaluate the implementation of the population- and family history (FH) -based screening for BReast CAncer (BRCA) in Iran, a country where less than 10% of breast cancer cases are attributable to a gene mutation.
9p
vikoch
27-06-2024
1
1
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Breast cancer is a common cause for central nervous system (CNS) metastasis, resulting in a significant reduction in overall survival. Germline pathogenic variants (PVs) in BRCA1/2 are the most common genetic risk factor for breast cancer, associated with poor prognostic factors. This study sought to explore the patterns and outcome of CNS metastases in breast cancer patients with germline PVs in BRCA1/2 genes.
12p
vikoch
27-06-2024
1
1
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Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the digestive tract. Acquired functional mutations in the tyrosine-protein kinase growth factor receptor proto-oncogene (KIT) and platelet-derived growth factor-alpha gene lead to increased tyrosine kinase activity, which is considered a key factor in the pathogenesis of GIST.
14p
vikoch
27-06-2024
1
1
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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
3
1
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Part 1 book "Molecular diagnostics - Fundamentals, methods, and clinical applications" includes content: Nucleic acids and proteins; gene expression and epigenetics; nucleic acid extraction methods; resolution and detection of nucleic acids; analysis and characterization of nucleic acids and proteins; nucleic acid amplifi cation; chromosomal structure and chromosomal mutations, gene mutations; DNA sequencing.
280p
muasambanhan10
06-04-2024
2
0
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Glycosylphosphatidylinositol biosynthesis defects (GPIBDs) cause a group of phenotypically overlapping recessive syndromes with intellectual disability, for which pathogenic mutations have been described in 16 genes of the corresponding molecular pathway.
13p
vibransone
28-03-2024
4
2
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The Ras pathway genes KRAS, BRAF, or ERBBs have somatic mutations in ~ 60% of human colorectal carcinomas. At present, it is unknown whether the remaining cases lack mutations activating the Ras pathway or whether they have acquired mutations in genes hitherto unknown to belong to the pathway.
13p
vibransone
28-03-2024
6
2
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Mutation of the IL2RG gene results in a form of severe combined immune deficiency (SCID-X1), which has been treated successfully with hematopoietic stem cell gene therapy. SCID-X1 gene therapy results in reconstitution of the previously lacking T cell compartment, allowing analysis of the roles of T cell immunity in humans by comparing before and after gene correction.
14p
vibransone
28-03-2024
7
2
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The emergence of drug resistance depends on the ability of the genome of cancer cells to constantly mutate and evolve under selective pressures. The generation of new mutations is accelerated when genes involved in DNA repair pathways are altered.
3p
vibransone
28-03-2024
5
2
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Recent sequencing studies on healthy skin and esophagus have found that, as we age, these tissues become colonized by mutant clones of cells carrying driver mutations in traditional cancer genes. This comment summarizes these findings and discusses their possible implications for our understanding of cancer, ageing, and other diseases.
3p
vibransone
28-03-2024
4
2
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Chemogenetic profiling enables the identification of gene mutations that enhance or suppress the activity of chemical compounds. This knowledge provides insights into drug mechanism of action, genetic vulnerabilities, and resistance mechanisms, all of which may help stratify patient populations and improve drug efficacy.
12p
vibransone
28-03-2024
5
2
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The discovery of synthetic lethal interactions between poly (ADP-ribose) polymerase (PARP) inhibitors and BRCA genes, which are involved in homologous recombination, led to the approval of PARP inhibition as a monotherapy for patients with BRCA1/2-mutated breast or ovarian cancer.
12p
vibransone
28-03-2024
3
2
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Maternal effect mutations in the components of the subcortical maternal complex (SCMC) of the human oocyte can cause early embryonic failure, gestational abnormalities and recurrent pregnancy loss. Enigmatically, they are also associated with DNA methylation abnormalities at imprinted genes in conceptuses.
14p
vibransone
28-03-2024
4
2
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Cystic fibrosis is the most common autosomal recessive genetic disease in Caucasians. It is caused by mutations in the CFTR gene, leading to poor hydration of mucus and impairment of the respiratory, digestive, and reproductive organ functions. Advancements in medical care have led to markedly increased longevity of patients with cystic fibrosis, but new complications have emerged, such as early onset of colorectal cancer.
15p
vibransone
28-03-2024
2
2
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A comprehensive understanding of the pre-existing genetic variation in genes associated with antibiotic resistance in the Mycobacterium tuberculosis complex (MTBC) is needed to accurately interpret wholegenome sequencing data for genotypic drug susceptibility testing (DST).
8p
vibransone
28-03-2024
3
2
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The concentrations of the highly atherogenic lipoprotein(a) [Lp(a)] are mainly genetically determined by the LPA gene locus. However, up to 70% of the coding sequence is located in the complex so-called kringle IV type 2 (KIV-2) copy number variation, a region hardly accessible by common genotyping and sequencing technologies.
13p
vibransone
28-03-2024
3
2
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