Genome-wide identification of U-box gene family and expression analysis in response to saline-alkali stress in foxtail millet (Setaria italica L. Beauv)
E3 ubiquitin ligases are central modifiers of plant signaling pathways that regulate protein function, localization, degradation, and other biological processes by linking ubiquitin to target proteins. E3 ubiquitin ligases include proteins with the U-box domain. However, there has been no report about the foxtail millet (Setaria italica L. Beauv) U-box gene family (SiPUB) to date. To explore the function of SiPUBs, this study performed genome-wide identification of SiPUBs and expression analysis of them in response to saline-alkali stress. A total of 70 SiPUBs were identified, which were unevenly distributed on eight chrom...
Source: Frontiers in Genetics - February 16, 2024 Category: Genetics & Stem Cells Source Type: research
Corrigendum: Case report: De novo mutation of a-galactosidase A in a female patient with end-stage renal disease: report of a case of late diagnosis of Anderson –Fabry disease
(Source: Frontiers in Genetics)
Source: Frontiers in Genetics - February 15, 2024 Category: Genetics & Stem Cells Source Type: research
Identification of new variants in patients with mucopolysaccharidosis in consanguineous Iranian families
Discussion: It appears that the high rate of consanguineous marriages in the families being studied has had a significant impact on the occurrence of this disease. Overall, these findings could expand the spectrum of pathogenic variants in mucopolysaccharidoses. Genetic methods, especially WES, are very accurate and can be used alone or in conjunction with other diagnostic methods for a more precise and rapid diagnosis of mucopolysaccharidoses. Additionally, they could be beneficial for family screening and disease prevention. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - February 15, 2024 Category: Genetics & Stem Cells Source Type: research
Diagnostic utility of DNA methylation episignature analysis for early diagnosis of KMT2B-related disorders: case report
The lysine methyltransferase 2B (KMT2B) gene product is important for epigenetic modifications associated with active gene transcription in normal development and in maintaining proper neural function. Pathogenic variants in KMT2B have been associated with childhood-onset Dystonia-28 and Intellectual developmental disorder, autosomal dominant 68 (MRD 68) for cases of neurodevelopmental impairment without dystonia (DYT28; OMIM 617284 and MRD68; OMIM 619934, respectively). Since its first description in 2016, approximately one hundred KMT2B genetic variants have been reported with heterogeneous phenotypes, including atypical...
Source: Frontiers in Genetics - February 15, 2024 Category: Genetics & Stem Cells Source Type: research
Brain function in classic galactosemia, a galactosemia network (GalNet) members review
Classic galactosemia (CG, OMIM #230400, ORPHA: 79,239) is a hereditary disorder of galactose metabolism that, despite treatment with galactose restriction, affects brain function in 85% of the patients. Problems with cognitive function, neuropsychological/social emotional difficulties, neurological symptoms, and abnormalities in neuroimaging and electrophysiological assessments are frequently reported in this group of patients, with an enormous individual variability. In this review, we describe the role of impaired galactose metabolism on brain dysfunction based on state of the art knowledge. Several proposed disease mech...
Source: Frontiers in Genetics - February 15, 2024 Category: Genetics & Stem Cells Source Type: research
Uncovering rearrangements in the Tibetan antelope via population-derived genome refinement and comparative analysis with homologous species
Discussion: This effort enhances our comprehension of the genomic landscape of this species. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - February 15, 2024 Category: Genetics & Stem Cells Source Type: research
No bidirectional relationship between inflammatory bowel disease and diverticular disease: a genetic correlation and Mendelian randomization study
Conclusion: This study’s findings do not provide evidence for a causal relationship between IBD and DD, which contradicts the majority of observational studies. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - February 14, 2024 Category: Genetics & Stem Cells Source Type: research
Loss of NSD2 causes dysregulation of synaptic genes and altered H3K36 dimethylation in mice
Background: Epigenetic disruptions have been implicated in neurodevelopmental disorders. NSD2 is associated with developmental delay/intellectual disability; however, its role in brain development and function remains unclear.Methods: We performed transcriptomic and epigenetic analyses using Nsd2 knockout mice to better understand the role of NSD2 in the brain.Results and discussion: Transcriptomic analysis revealed that the loss of NSD2 caused dysregulation of genes related to synaptic transmission and formation. By analyzing changes in H3 lysine 36 dimethylation (H3K36me2), NSD2-mediated H3K36me2 mainly marked quiescent ...
Source: Frontiers in Genetics - February 14, 2024 Category: Genetics & Stem Cells Source Type: research
Circulating miRNAs as biomarkers for the diagnosis in patients with melanoma: systematic review and meta-analysis
Conclusion: Circulating miRNAs have shown a high diagnostic power in detecting melanoma. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - February 14, 2024 Category: Genetics & Stem Cells Source Type: research
QTL-seq analysis identified the genomic regions of plant height and days to heading in high-latitude rice
In this study, an F3 segregating population was obtained by crossing two main cultivars that are grown under different temperatures and day-light conditions in Heilongjiang. Two pools of extreme phenotypes were built for the DH and PH of the population. For SNP and InDel variants obtained from whole-genome resequencing in the pools, an association analysis was performed using the Euclidean distance (ED) algorithm and the SNP/InDel index algorithm.Results: The intersection of SNP and InDel regions associated with the phenotypes was considered to obtain the final associated sites. After excluding interferences from the clone...
Source: Frontiers in Genetics - February 14, 2024 Category: Genetics & Stem Cells Source Type: research
Metabolic clues to aging: exploring the role of circulating metabolites in frailty, sarcopenia and vascular aging related traits and diseases
Conclusion: Our research suggested new evidence of the relationship between identified metabolites and 6 age-related diseases, which may hold promise as valuable biomarkers. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - February 13, 2024 Category: Genetics & Stem Cells Source Type: research
Construction of a co-expression network affecting intramuscular fat content and meat color redness based on transcriptome analysis
Discussion and conclusion: After functional annotation of these four hub genes, we hypothesized that the SOX9/CEBPB/PPARGC1A axis could co-regulate lipid metabolism and the myoglobin redox response. Further research on these hub genes, especially the SOX9/CEBPB/PPARGC1A axis, will help to understand the molecular mechanism of the co-regulation of the IFC and CIE a* value, which will provide a theoretical basis for improving pork quality. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - February 13, 2024 Category: Genetics & Stem Cells Source Type: research
KNeXT: a NetworkX-based topologically relevant KEGG parser
Automating the recreation of gene and mixed gene-compound networks from Kyoto Encyclopedia of Genes and Genomes (KEGG) Markup Language (KGML) files is challenging because the data structure does not preserve the independent or loosely connected neighborhoods in which they were originally derived, referred to here as its topological environment. Identical accession numbers may overlap, causing neighborhoods to artificially collapse based on duplicated identifiers. This causes current parsers to create misleading or erroneous graphical representations when mixed gene networks are converted to gene-only networks. To overcome ...
Source: Frontiers in Genetics - February 13, 2024 Category: Genetics & Stem Cells Source Type: research
Leveraging genetics to optimize rehabilitation outcomes after spinal cord injury: contemporary challenges and future opportunities
(Source: Frontiers in Genetics)
Source: Frontiers in Genetics - February 13, 2024 Category: Genetics & Stem Cells Source Type: research
Novel FOXL2 variants in two Chinese families with blepharophimosis, ptosis, and epicanthus inversus syndrome
Conclusion: Our results add to the current understanding of known FOXL2 variants in, and our in vitro experiments provide reference data and insights into the etiology of BPES. Further studies are needed to identify the possible mechanisms underlying the action of this mutation on the development of BPES. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - February 12, 2024 Category: Genetics & Stem Cells Source Type: research
