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The Association of Mitochondrial tRNA G5783A Mutation with Major Depressive Disorder in Two Han Chinese Families.
Neuropsychiatr Dis Treat
January 2025
Department of Psychiatry, Suzhou Guangji Hospital, Suzhou, People's Republic of China.
Objective: In this study, we examined the genetic, medical, and molecular traits of two Han Chinese families with the tRNA G5783A mutation to investigate the relationship between mitochondrial DNA (mtDNA) mutations and major depressive disorder (MDD).
Methods: Clinical data and comprehensive mitochondrial genomes were collected from the two families. Variants were assessed for evolutionary conservation, allelic frequencies, and their structural and functional impacts.
Association of NOS2A Gene Polymorphisms with Susceptibility to Tuberculosis in Manipuri Population of Northeast India.
Biochem Genet
January 2025
Department of Biotechnology, Manipur University, Canchipur, Imphal, 795003, Manipur, India.
Single nucleotide polymorphisms (SNPs) have been reported to influence the activity of specific genes involved with the innate immune response to Mycobacterium; hence, they are crucial in tuberculosis (TB) susceptibility studies. The study aimed to investigate the polymorphism in the NOS2A (Nitric oxide synthase 2A) gene and its association with susceptibility to TB in the Manipuri population of northeast India. This case-control study includes 495 subjects- 220 TB patients and 275 control individuals.
View Article and Find Full Text PDFSingle-Nucleotide Polymorphisms in MMP3, TIMP1, and MTR Genes are Associated With Delayed Deciduous Tooth Eruption.
Biochem Genet
January 2025
Posgraduate Program in Dentistry, Institute of Health Sciences, Fluminense Federal University, Nova Friburgo, RJ, Brazil.
To analyze whether the single-nucleotide polymorphisms (SNPs) in Matrix metalloproteinases 2, 3, and 9 (MMP2, MMP3, and MMP9), Tissue Inhibitor of Metalloproteinases 1 and 2 (TIMP1 and TIMP2), methionine synthase (MTR) and methionine synthase reductase (MTRR) influence delayed deciduous tooth eruption (DDTE). This cross-sectional study included 1060 biologic unrelated children (aged between 6 and 36 months) of both sexes, selected from 25 public schools in Nova Friburgo, Rio de Janeiro, Brazil. Oral examination was conducted and DDTE was defined by the absence of gingival eruption according to a chronology based on the Brazilian population.
View Article and Find Full Text PDFAnti-Inflammatory Effects of Clarstatin, a Shared-Epitope-Antagonistic Cyclic Peptide, on Experimental Autoimmune Uveitis in Mice.
Invest Ophthalmol Vis Sci
January 2025
Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
Purpose: Polymorphism and mutations of human leukocyte antigens (HLAs) and calreticulin are risk factors for uveitis. Here, we sought to determine the therapeutic effects of Clarstatin, a cyclic peptide antagonist of the HLA shared-epitope-calreticulin interaction, in experimental autoimmune uveitis (EAU) models.
Methods: Mice were injected with Clarstatin intraperitoneally and its effect was compared to that of corticosteroid.
The association between NADPH oxidase (NOX) polymorphisms with immunohistochemistry and survival in diffuse large B cell lymphoma patients.
Ann Hematol
January 2025
Department of Pharmacy, Harbin Medical University Cancer Hospital, 150086, Harbin, China.
The purpose of this study was to comprehensively analyze the prediction role of NADPH oxidase (NOX)-related polymorphisms (NCF4: rs1883112, CYBA: rs4673, RAC2: rs13058338) and immunohistochemical indices on survival in diffuse large B-cell lymphoma (DLBCL).The impact of NOX polymorphisms were evaluated in 335 DLBCL patients treated with R (rituximab)-CHOP (cyclophosphamide, doxorubicin, vincristine, and prednisone) from Harbin Medical University Cancer Hospital. We also collected information on their immunohistochemical expression and clinical outcomes.
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