Category Ranking

98%

Total Visits

921

Avg Visit Duration

2 minutes

Citations

20

Article Abstract

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9366293PMC
http://dx.doi.org/10.1016/j.ekir.2022.05.003DOI Listing

Publication Analysis

Top Keywords

gstm1 copy
4
copy number
4
number kidney
4
kidney disease
4
disease people
4
people hiv
4
gstm1
1
number
1
kidney
1
disease
1

Similar Publications

Exposure to low-dose ionizing radiation in occupational settings raises concerns about chromosomal aberrations (CAs) and their potential impact on genomic stability. Copy number variations (CNVs), structural genomic changes, influence susceptibility to environmental stressors and radiation-induced damage. This study analyzed CAs in 180 nuclear power plant workers exposed to occupational radiation and 45 controls, stratified by GSTM1 and GSTT1 CNVs.

View Article and Find Full Text PDF

Response to azathioprine treatment in autoimmune hepatitis is dependent on glutathione transferase genotypes.

Dig Liver Dis

April 2025

Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden; Department of Laboratory Medicine, Region Jönköping County, Jönköping, Sweden. Electronic address:

Background: Azathioprine (AZA) is part of the standard treatment for autoimmune hepatitis (AIH). The first step in the complex bioconversion of AZA to active metabolites is mediated by glutathione transferases (GSTs).

Aims: Elucidate the association between GSTM1 and GSTT1 copy number variation (CNV), genetic variation in GSTA2, GSTP1, and inosine-triphosphate-pyrophosphatase, and the response to AZA in AIH.

View Article and Find Full Text PDF

Introduction: Meningiomas are the most common primary central nervous system (CNS) tumor in adults, comprising one-third of all primary adult CNS tumors. Although several recent publications have identified molecular alterations in meningioma including characteristic mutations, copy number alterations, and gene expression signatures, our understanding of the drivers of meningioma recurrence is limited.

Objective: To identify gene expression signatures of 1p22qNF2 meningioma recurrence, with concurrent biallelic inactivation of and loss of chr1p that are heterogenous but enriched for recurrent meningiomas.

View Article and Find Full Text PDF
Article Synopsis
  • The study investigates how genetic variations in oxidative stress, inflammation, and neurodevelopment affect spinal muscular atrophy (SMA) susceptibility and clinical progression, despite the strong influence of the SMN2 gene copy number.
  • Researchers analyzed genetic data from 54 SMA patients and 163 healthy controls, identifying specific polymorphisms linked to disease risk, type, symptom onset, and motor and respiratory functions.
  • Notable findings include protective effects from TNF rs1800629 and BDNF rs6265 against SMA, and associations with motor scores and lung function, highlighting the complexity of SMA's genetic landscape and potential for personalized treatments.
View Article and Find Full Text PDF

Oxidative stress (OS) is believed to be a significant factor in the decline of semen quality, with mitochondrial DNA copy number (mtDNAcn) serving as a sensitive biomarker for both semen quality and mitochondrial dysfunction resulting from oxidative stress. While glutathione S-transferases (GSTs) are commonly known as 'antioxidant' enzymes, there is ongoing debate regarding the relationship between GST genotypes and semen quality. In a study involving 568 male volunteers from the outpatient department of Puyang Reproductive Medicine Center, sperm mtDNAcn, semen quality, and GSTM1/GSTT1 genotypes were analyzed to investigate the potential link between GSTM1/GSTT1 gene variations and semen quality, as well as the impact of GSTs gene variations on the connection between sperm mtDNAcn and semen quality.

View Article and Find Full Text PDF