Expression of the fragile site fra(X) (q27.3) in peripheral lymphocytes was evaluated in mentally retarded patients and in normal control individuals before and after administration of the antifolic agent trimethoprim for 7 days. This treatment was effective in converting the status of some individuals from fra(X)-negative to fra(X)-positive. However, the induced level of fra(X) expression was very low and not significantly different in patients and in control subjects and did not increase in those individuals where it was already present before treatment. These data support the contention that fra(X)(q27.3) is a common fragile site and that treatment in vivo with an antifolic agent is not effective in enhancing its degree of expression in vitro. Therefore, such treatment seems to be of no diagnostic value in those cases where the fra(X) syndrome is suspected clinically, but where there is no or very low cytogenetic expression of the fra(X).
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/ajmg.1320300137 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Proteostasis modulates gene dosage evolution in antibiotic-resistant bacteria.
Elife
March 2025
Department of Biology, Indian Institute of Science Education and Research, Pune, India.
Evolution of gene expression frequently drives antibiotic resistance in bacteria. We had previously (Patel and Matange, , 2021) shown that, in , mutations at the locus were beneficial under trimethoprim exposure and led to overexpression of dihydrofolate reductase (DHFR), encoded by the gene. Here, we show that DHFR levels are further enhanced by spontaneous duplication of a genomic segment encompassing and spanning hundreds of kilobases.
View Article and Find Full Text PDFHighlights from the breakout session: other forms of vasculitis.
Rheumatology (Oxford)
March 2025
Division of Rheumatology, Mayo Clinic, Rochester, MN, USA.
The session on other forms of vasculitis included a masterful review on IgG4-related disease (IgG4-RD) following which two research studies evaluating therapeutic agents and one study on histopathologic findings of IgG4-RD were presented. Peyronel F., et al.
View Article and Find Full Text PDFThe role of Juniperus Macrocarpa extract as anti-inflammatory and antioxidant on methotrexate-induced acute liver injury in rat model.
F1000Res
March 2025
PhD (Pharmacology), Department of Pharmacology, College of Medicine, University of Baghdad, Baghdad, Baghdad Governorate, Iraq.
Background: Methotrexate (MTX) is an antifolate medication indicated to treat an array of tumors and autoinflammatory maladies. MTX may exhibit harmful impacts on multiple organs, especially liver injury and cirrhosis. Juniperus macrocarpa is a medicinal herb enriched with polyphenols and flavonoids featuring robust anti-inflammatory and antioxidative benefits.
View Article and Find Full Text PDFTempol Mitigates Methotrexate-Induced Osteotoxicity via Oxidative Stress Modulation and MAPK Pathway Inhibition.
Drug Des Devel Ther
March 2025
Deparment of Medicinal Pharmacology, Faculty of Medicine, Cukurova University, Adana, Turkey.
Purpose: Osteotoxicity, a common consequence of Methotrexate (MTX) therapy, significantly compromises bone health by inducing oxidative stress and disrupting bone remodeling. This study examines the protective effects of Tempol, a nitroxide compound with antioxidant properties, against MTX-induced osteotoxicity.
Methods: Osteocyte-like MLO-Y4 cells were cultured and treated with Tempol and MTX to evaluate changes in apoptotic mediators, MAPK signaling pathways, and oxidative stress parameters.
In silico screening and molecular dynamics analysis of natural DHPS enzyme inhibitors targeting Acinetobacter baumannii.
Sci Rep
March 2025
Department of Biotechnology, Sharda School of Engineering and Technology, Sharda University, P.C. 201310, Greater Noida, U.P, India.
Over time, antimicrobial agents are losing their credibility in curbing infections due to the development of resistant pathogen strains. The resistant strains have proven to invade living beings and cause various diseases, leading to deaths at an alarming rate. Acinetobacter baumannii is one such pathogen, and to target it through enzyme inhibition, Dihydropteroate synthase enzyme's active site is virtually screened for antimicrobial agents against in-house libraries of natural molecules from medicinally important plants and Agaricus spp.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!