Unraveling phenotypic variance in metabolic syndrome through multi-omics
This study underscores omics ’ roles, interaction effects, and random-effects covariance in unveiling phenotypic variation in multi-omics domains. (Source: Human Genetics)
Source: Human Genetics - December 14, 2023 Category: Genetics & Stem Cells Source Type: research
An emerging link between lncRNAs and cancer sex dimorphism
AbstractThe prevalence and progression of cancer differ in males and females, and thus, sexual dimorphism in tumor development directly impacts clinical research and medicine. Long non-coding RNAs (lncRNAs) are increasingly recognized as important players in gene expression and various cellular processes, including cancer development and progression. In recent years, lncRNAs have been implicated in the differences observed in cancer incidence, progression, and treatment responses between men and women. Here, we present a brief overview of the current knowledge regarding the role of lncRNAs in cancer sex dimorphism, focusin...
Source: Human Genetics - December 14, 2023 Category: Genetics & Stem Cells Source Type: research
Unraveling phenotypic variance in metabolic syndrome through multi-omics
This study underscores omics ’ roles, interaction effects, and random-effects covariance in unveiling phenotypic variation in multi-omics domains. (Source: Human Genetics)
Source: Human Genetics - December 14, 2023 Category: Genetics & Stem Cells Source Type: research
An emerging link between lncRNAs and cancer sex dimorphism
AbstractThe prevalence and progression of cancer differ in males and females, and thus, sexual dimorphism in tumor development directly impacts clinical research and medicine. Long non-coding RNAs (lncRNAs) are increasingly recognized as important players in gene expression and various cellular processes, including cancer development and progression. In recent years, lncRNAs have been implicated in the differences observed in cancer incidence, progression, and treatment responses between men and women. Here, we present a brief overview of the current knowledge regarding the role of lncRNAs in cancer sex dimorphism, focusin...
Source: Human Genetics - December 14, 2023 Category: Genetics & Stem Cells Source Type: research
Plasma-derived exosomal miRNA profiles reveal potential epigenetic pathogenesis of premature ovarian failure
This study aimed to investigate the epigenetic pathogenesis of POF through exosomal miRNA sequencing. Exosomes were isolated and characterized from six POF patients and four healthy individuals using nanoparticle tracking analysis, transmission electron microscopy and western blot analysis. Exosomal miRNA sequencing was performed to identify differentially expressed miRNAs with |fold change| greater than 1.5 andp value less than 0.05. Bioinformatics analysis in GSE39501 dataset and our sequencing data was conducted to investigate underlying mechanisms of POF. The functional role of hsa-miR-19b-3p was assessed using CCK8, w...
Source: Human Genetics - December 6, 2023 Category: Genetics & Stem Cells Source Type: research
Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage
AbstractMachado-Joseph disease (MJD/SCA3) is the most frequent dominant ataxia worldwide. It is caused by a (CAG)n expansion. MJD has two major ancestral backgrounds: the Machado lineage, found mainly in Portuguese families; and the Joseph lineage, present in all five continents, probably originating in Asia. MJD has been described in a few African and African-American families, but here we report the first diagnosed in Sudan to our knowledge. The proband presented with gait ataxia at age 24; followed by muscle cramps and spasticity, and dysarthria, by age 26; he was wheel-chair bound at 29 years of age. His brother had ...
Source: Human Genetics - December 1, 2023 Category: Genetics & Stem Cells Source Type: research
Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants
AbstractTo investigate the genotype-to-protein-to-phenotype correlations of succinic semialdehyde dehydrogenase deficiency (SSADHD), an inherited metabolic disorder of γ-aminobutyric acid catabolism. Bioinformatics and in silico mutagenesis analyses ofALDH5A1 variants were performed to evaluate their impact on protein stability, active site and co-factor binding domains, splicing, and homotetramer formation. Protein abnormalities were then correlated with a validated disease-specific clinical severity score and neurological, neuropsychological, biochemical, neuroimaging, and neurophysiological metrics. A total of 58 indiv...
Source: Human Genetics - December 1, 2023 Category: Genetics & Stem Cells Source Type: research
Genetics and epigenetics of diabetes and its complications in India
AbstractDiabetes mellitus (DM) has become a significant health concern with an increasing rate of morbidity and mortality worldwide. India ranks second in the number of diabetes cases in the world. The increasing burden of DM can be explained by genetic predisposition of Indians to type 2 diabetes mellitus (T2DM) coupled with rapid urbanization and socio-economic development in the last 3 decades leading to drastic changes in lifestyle. Environment and lifestyle changes contribute to T2DM development by altering epigenetic processes such as DNA methylation, histone post-translational modifications, and long non-coding RNAs...
Source: Human Genetics - November 24, 2023 Category: Genetics & Stem Cells Source Type: research
rs10924104 in the expression enhancer motif of CD58 confers susceptibility to human autoimmune diseases
In conclusion, the present study demonstrated for the first time the existence of a shared autoimmune disease-related primary functional variant (i.e., rs10924104) that regulates the expression ofCD58. Clarifying the molecular mechanism of disease susceptibility derived from such a shared genetic background is important for understanding human autoimmune diseases and human immunology. (Source: Human Genetics)
Source: Human Genetics - November 23, 2023 Category: Genetics & Stem Cells Source Type: research
Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage
AbstractMachado-Joseph disease (MJD/SCA3) is the most frequent dominant ataxia worldwide. It is caused by a (CAG)n expansion. MJD has two major ancestral backgrounds: the Machado lineage, found mainly in Portuguese families; and the Joseph lineage, present in all five continents, probably originating in Asia. MJD has been described in a few African and African-American families, but here we report the first diagnosed in Sudan to our knowledge. The proband presented with gait ataxia at age 24; followed by muscle cramps and spasticity, and dysarthria, by age 26; he was wheel-chair bound at 29 years of age. His brother had ...
Source: Human Genetics - November 14, 2023 Category: Genetics & Stem Cells Source Type: research
Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants
AbstractTo investigate the genotype-to-protein-to-phenotype correlations of succinic semialdehyde dehydrogenase deficiency (SSADHD), an inherited metabolic disorder of γ-aminobutyric acid catabolism. Bioinformatics and in silico mutagenesis analyses ofALDH5A1 variants were performed to evaluate their impact on protein stability, active site and co-factor binding domains, splicing, and homotetramer formation. Protein abnormalities were then correlated with a validated disease-specific clinical severity score and neurological, neuropsychological, biochemical, neuroimaging, and neurophysiological metrics. A total of 58 indiv...
Source: Human Genetics - November 14, 2023 Category: Genetics & Stem Cells Source Type: research
Genetic spectrums and clinical profiles of critically ill neonates with congenital auricular deformity in the China Neonatal Genomes Project
This study identified a high incidence of genetic causes in critically ill neonates with CADs, with a combination of single-nucleotide variations and CNVs among the genetic causes of CAD. These findings highlight potential of NGS in the genetic testing of critically ill neonates with CADs. (Source: Human Genetics)
Source: Human Genetics - November 8, 2023 Category: Genetics & Stem Cells Source Type: research
