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http://dx.doi.org/10.1111/j.1749-6632.1998.tb08946.x | DOI Listing |
Front Child Adolesc Psychiatry
February 2023
Operative Unit of Medical Genetics Bianchi - Melacrino- Morelli Hospital, Reggio Calabria, Italy.
Malan syndrome (MALNS) is an ultra-rare genetic disorder caused by heterozygous chromosomal microdeletions involving the 19p13.2 region or loss-of-function variants in the gene. It is characterized by specific phenotypical features, intellectual disability (ID), and limitations in adaptive functioning and behavioral problems.
View Article and Find Full Text PDFFront Antibiot
December 2023
Department of Biochemistry & Microbiology, North South University, Dhaka, Bangladesh.
spp. are Gram-negative, non-spore forming, rod-shaped, facultative anaerobic bacteria from the family often found in soil, sewage, sludge, water, food, and the intestinal tracts of animals and humans. Several members of spp.
View Article and Find Full Text PDFCell
January 2025
European Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton CB10 1SA, UK. Electronic address:
Osteosarcoma is the most common primary cancer of the bone, with a peak incidence in children and young adults. Using multi-region whole-genome sequencing, we find that chromothripsis is an ongoing mutational process, occurring subclonally in 74% of osteosarcomas. Chromothripsis generates highly unstable derivative chromosomes, the ongoing evolution of which drives the acquisition of oncogenic mutations, clonal diversification, and intra-tumor heterogeneity across diverse sarcomas and carcinomas.
View Article and Find Full Text PDFJ Bras Pneumol
January 2025
. Departamento de Biologia Geral, Universidade Federal Fluminense, Niterói (RJ) Brasil.
Objective: Silicosis is a pneumoconiosis characterized by fibrosis of the lung parenchyma caused by the inhalation of silica particles. Silica dust inhalation is associated with inflammation and induction of oxidative stress in the lungs. This oxidative stress affects telomeres, which are short tandem DNA repeats that cap the end of linear chromosomes.
View Article and Find Full Text PDFSemin Liver Dis
January 2025
Hepatobiliary Surgery, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, China.
The liver is a sexually dimorphic organ. Sex differences in prevalence, progression, prognosis and treatment do prevail in most liver diseases, and the mechanism of how liver diseases act differently among male versus female patients have not been fully elucidated. Biological sex differences in normal physiology and disease arise principally from sex hormones and/or sex chromosomes.
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