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A rare haplotype of the GJD3 gene segregating in familial Meniere's disease interferes with connexin assembly.
Genome Med
January 2025
Otology & Neurotology Group CTS495, Instituto de Investigación Biosanitario, Ibs.GRANADA, Universidad de Granada, 18071, Granada, Spain.
Background: Familial Meniere's disease (FMD) is a rare polygenic disorder of the inner ear. Mutations in the connexin gene family, which encodes gap junction proteins, can also cause hearing loss, but their role in FMD is largely unknown.
Methods: We retrieved exome sequencing data from 94 individuals in 70 Meniere's disease (MD) families.
House Mice in the Atlantic Region: Genetic Signals of Their Human Transport.
Genes (Basel)
December 2024
Department of Ecology and Evolutionary Biology, Cornell University, Ithaca, NY 14853, USA.
Background/objectives: The colonization history of house mice reflects the maritime history of humans that passively transported them worldwide. We investigated western house mouse colonization in the Atlantic region through studies of mitochondrial D-loop DNA sequences from modern specimens.
Methods: We assembled a dataset of 758 haplotypes derived from 2765 mice from 47 countries/oceanic archipelagos (a combination of new and published data).
Preclinical and clinical study on type 3 metabotropic glutamate receptors in Parkinson's disease.
NPJ Parkinsons Dis
January 2025
Department of Molecular Pathology, IRCCS Neuromed, Pozzilli, Italy.
Metabotropic glutamate (mGlu) receptors are candidate drug targets for therapeutic intervention in Parkinson's disease (PD). Here we focused on mGlu3, a receptor subtype involved in synaptic regulation and neuroinflammation. mGlu3 mice showed an enhanced nigro-striatal damage and microglial activation in response to 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP).
View Article and Find Full Text PDFIntegrated analysis reveals that miR-548ab promotes the development of obesity and T2DM.
J Genet Genomics
November 2024
Medical College of Shihezi University, Shihezi, Xinjiang 832000, China; Laboratory of Xinjiang Endemic and Ethic Diseases of Shihezi University, Shihezi, Xinjiang 832000, China. Electronic address:
Article Synopsis
- Dysregulation of microRNA (miRNA) expression is linked to the development of type 2 diabetes (T2DM) in obesity, highlighting the importance of studying miRNAs like miR-548ab in glucose metabolism.
- A genome-wide association study with Kazakh and Uyghur individuals identified miR-548ab as significantly associated with fasting plasma glucose levels and T2DM.
- The research shows that the miR-548ab-GULP1/SLC25A21-GLUT4 network regulates glucose metabolism and could serve as a potential target for diagnosing and treating obesity-related T2DM, with miR-548ab inhibitors proving beneficial in animal models.
Dietary arachidonic acid contributes to alleviation of peanut-induced allergy biomarkers in BALB/c, C57BL/6 and CD-1 mice.
Int Immunopharmacol
January 2025
Department of Chemistry, School of Sciences and Engineering, The American University in Cairo, New Cairo, Cairo, Egypt. Electronic address:
Objective: Despite its innumerable, invaluable and unique benefits to human development and welfare, consumption of the omega 6 polyunsaturated fatty acid, arachidonic acid (ARA) generates apprehension due to the association of its metabolites with allergy symptoms. Accordingly, it was deemed important to examine the impact of ARA supplementation on initiation and progress of peanut (PN)-induced allergy in mice of different MHC haplotypes.
Methods: Cohorts of BALB/c, C57BL/6, and outbred CD-1 mice were maintained two weeks before experimentation and until the end of the experiment on mouse food supplemented with equal amounts of milk powder containing 3 or 0 mg ARA/day/mouse, and then exposed to inhalation of 0 or 100 μg/mouse PN flour molecules twice for 4 weeks.
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