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Genetics Research
Dikeluarkan Scopus 2023
ISSN 1469-5073 · Wiley · 215 artikel di indeks
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Artikel Jurnal
Exploring Deleterious Nonsynonymous SNPs in the ACADM Gene: Insights Into Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) via In Silico Analysis
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD), a potentially lethal metabolic disorder, is often associated with single-nucleotide polymorphisms (SNPs) in the acyl-CoA dehydrogenase, medium-chain (ACADM) gene. The current research investigates the structural and functional implications of…
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Artikel Jurnal
The Diverse Roles of the Histone-Like Nucleoid Structuring (H-NS) Protein in Vibrio parahaemolyticus
The histone-like nucleoid structuring (H-NS) protein is a global transcriptional regulator critical for bacterial genome organization and gene expression. In Vibrio parahaemolyticus, H-NS represses virulence factors such as thermostable direct hemolysin (TDH), type III secretion systems…
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Artikel Jurnal
PANoptosis-Related Diagnostic Biomarkers in Non-Neovascular Age-Related Macular Degeneration: An Integrative Transcriptomic and Experimental Study
Age-related macular degeneration (AMD), particularly its non-neovascular (dry) form, is a progressive retinal disorder that causes central vision loss and substantial impairment in daily life. Inflammation and immune dysregulation are recognized as core drivers of AMD, yet the contribution of…
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Artikel Jurnal
A Novel Mutation of the FBN1 Gene in a Chinese Family With Marfan Syndrome and Unanticipated Discoveries of Family Members
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by pathogenic variants in the FBN1 gene. Using whole-exome sequencing (WES) in a Chinese MFS family, we identified a novel heterozygous nonsense variant FBN1:c.1415dup;p.(Tyr472Ter), which cosegregates with the disease…
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Artikel Jurnal
Two Novel FBN2 Variants Causing Congenital Contractural Arachnodactyly
Congenital contractural arachnodactyly (CCA) is a rare, autosomal dominant connective tissue disease characterized by arachnodactyly, camptodactyly, multiple joint contractures, tall and slender habitus, crumpled ears, and scoliosis. It shares overlapping features with Marfan syndrome (MFS). This…
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Artikel Jurnal
Compound Heterozygous ATM Variants Cause Adolescent-Onset Cerebellar and Extrapyramidal Disease Without Telangiectasia in a Consanguineous Pakistani Family
Ataxia–telangiectasia (A–T) is a heterogeneous genetic disorder with a recessive mode of inheritance resulting from biallelic variants in the A–T mutated gene (ATM). Besides ataxia, the disorder involves compromised immunity and an increased risk of malignancies. We recruited a consanguineous…
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Artikel Jurnal
Lipids and Lipid-Lowering Drugs With Risk of Intervertebral Disc Degeneration: A Mendelian Randomization Study
This study examined whether circulating lipid traits and lipid-lowering drug targets are causally associated with intervertebral disc degeneration (IVDD) using a Mendelian randomization (MR) framework. We analyzed summary-level data from genome-wide association studies (GWASs) covering…