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Estrogenic-like compounds severely disturb germ cell formation in Japanese quail.
Biochem Biophys Res Commun
December 2024
Department of Biological Sciences, Faculty of Science, Hokkaido University, Kita 10 Nishi 8, Kita-ku, Sapporo, Hokkaido, 060-0810, Japan.
During avian germ cell formation, primordial germ cells (PGCs) differentiate into prospermatogonia in testicular seminiferous tubules or into oogonia in the ovarian cortex in late-stage embryos. Although estrogenic endocrine-disrupting chemicals (EDCs) have been suggested to affect the differential fate of avian germ cells, there is currently no established method to examine the effects of EDCs on the differentiation potential of germline cells due to large amount of unidentified proteins present in avian germ cells. Regarding reliable molecular probes for the detection of germ cells that differentiated from the PGCs of Japanese quail, the prospermatogonium and oogonium, respectively, integrin beta1 (ITGB1), insulin-like growth factor 2-binding protein 1 (IGF2BP1), and stimulated by retinoic acid 8 (STRA8) were identified as marker proteins by RNA-seq and liquid chromatography tandem mass spectrometry analyses.
View Article and Find Full Text PDFIn Saccharomyces cerevisiae cells, the bulk of mitochondrial DNA (mtDNA) replication is mediated by the replicative high-fidelity DNA polymerase γ. However, upon UV irradiation low-fidelity translesion polymerases: Polη, Polζ and Rev1, participate in an error-free replicative bypass of UV-induced lesions in mtDNA. We analysed how translesion polymerases could function in mitochondria.
View Article and Find Full Text PDFPharmacogenomic landscape of the Thai population from genome sequencing of 949 individuals.
Sci Rep
December 2024
National Biobank of Thailand, National Center for Genetic Engineering and Biotechnology, National Science and Technology Development Agency, Pathum Thani, Thailand.
Inter-individual variability in drug responses is significantly influenced by genetic factors, underscoring the importance of population-specific pharmacogenomic studies to optimize clinical outcomes. In this study, we analyzed whole genome sequencing data from 949 unrelated Thai individuals and conducted an in-depth analysis of 3239 genes involved in drug pharmacokinetics, pharmacodynamics, or immune-mediated adverse drug reactions. We identified 43 single nucleotide polymorphisms (SNPs), 134 diplotypes, and 15 human leukocyte antigen (HLA) alleles, all with moderate to high clinical significance.
View Article and Find Full Text PDFUncertain significance and molecular insights of CPLANE1 variants in prenatal diagnosis of Joubert syndrome: a case report.
BMC Pregnancy Childbirth
December 2024
Department of Obstetrics, School of Medicine, Chengdu Women's and Children's Central Hospital, University of Electronic Science and Technology of China, Chengdu, China.
Background: Prenatal whole exome sequencing (WES) is becoming an increasingly used diagnostic tool for fetuses with structural anomalies. However, the identification of variants of uncertain significance (VUS) in clinically relevant genes can significantly complicate prenatal diagnosis and genetic counseling.
Case Presentation: A fetus conceived through in vitro fertilization at the third attempt presented with polydactyly and molar tooth sign at 24 + 6 weeks of gestation.
Lifetime depression, sleep disruption and brain structure in the UK Biobank cohort.
J Affect Disord
December 2024
School of Health and Wellbeing, University of Glasgow, Glasgow, UK; Division of Psychiatry, Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, UK.
Whether depression and poor sleep interact or have statistically independent associations with brain structure and its change over time is not known. Within a subset of UK Biobank participants with neuroimaging and subjective and/or objective sleep data (n = 28,351), we examined associations between lifetime depression and sleep disruption and their interaction with structural neuroimaging measures, both cross-sectionally and longitudinally. Sleep variables were: self-reported insomnia and difficulty getting up; actigraphy-derived short sleep (<7 h); sustained inactivity bouts during daytime (SIBD); and sleep efficiency.
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