Insulin-producing beta-cells were selectively absent from the islets of Langerhans in postmortem specimens from two patients with Wolfram's syndrome. In families with multiple cases of this syndrome, we found a very high concordance rate (r = .910, P less than .001) among siblings for age at onset of diabetes mellitus. Taken together with the lack of markers for an autoimmune process, these findings suggest that diabetes mellitus in this syndrome results from genetically programmed selective beta-cell death.
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http://dx.doi.org/10.2337/diacare.12.2.135 | DOI Listing |
Nicotine Tob Res
January 2025
Department of Population Health Sciences, University of Leicester, Leicester, UK.
Introduction: Varenicline is an α4β2 nicotinic acetylcholine receptor partial agonist with the highest therapeutic efficacy of any pharmacological smoking cessation aid and a 12-month cessation rate of 26%. Genetic variation may be associated with varenicline response, but to date no genome-wide association studies of varenicline response have been published.
Methods: In this study, we investigated the genetic contribution to varenicline effectiveness using two electronic health record-derived phenotypes.
J Community Genet
January 2025
Laboratório de Hormônios e Genética Molecular-LIM42, Disc de Endocrinologia do Hospital das Clínicas, da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Neonatal screening is a critical public health initiative introduced worldwide to detect severe congenital disorders early in life. This study provides an updated overview of public neonatal screening in Brazil, highlighting the transition from initial pilot projects to a robust national program. Through the analysis of recent data up to 2023, we discuss the coverage and regional efficiencies of the program.
View Article and Find Full Text PDFBraz J Microbiol
January 2025
Graduate Program in Evolution and Diversity, Federal University of ABC, Av. dos Estados, Bairro Bangu, Santo André, São Paulo, 5001, CEP 09210-580, Brazil.
Culture-dependent and -independent studies have provided access to symbiont genes and the functions they play for host sponges. Thus, this work investigates the diversity, presence of genes of pharmacological interest, biological activities and metabolome of the bacteria isolated from the sponges Aplysina caissara and Aplysina fulva collected on the southwestern Atlantic Coast. The genes for Polyketide Synthases types I and II and Nonribosomal Peptide Synthetases were screened in more than 200 bacterial strains obtained, from which around 40% were putatively novel.
View Article and Find Full Text PDFFASEB J
January 2025
Department of Nutrition, Second Military Medical University, Shanghai, China.
Tamoxifen is an inhibitor of estrogen receptors and was originally developed for breast cancer therapy. Besides, tamoxifen is widely used for Cre-estrogen receptor-mediated conditional knockout in transgenic mice. However, we found that the 3-month feeding of 0.
View Article and Find Full Text PDFFASEB J
January 2025
College of Bioinformatics Science and Technology, Harbin Medical University, Harbin, Heilongjiang, China.
Inflammatory bowel disease (IBD) with the two predominant endophenotypes-Crohn's disease (CD) and ulcerative colitis (UC)-represents a group of chronic gastrointestinal inflammatory conditions. Since most genetic associations with IBD are often limited to independent subtypes, we reported a genome-wide association study (GWAS) cross-trait analysis combined with CD and UC to enhance statistical power. Initially, we detected 256 association signals at 54 genomic susceptibility loci and further characterized the functionality of variants within these regions.
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