MECP2-related disorders while gene-based therapies are on the horizon
The emergence of new genetic tools has led to the discovery of the genetic bases of many intellectual and developmental disabilities. This creates exciting opportunities for research and treatment development, and a few genetic disorders (e.g., spinal muscular atrophy) have recently been treated with gene-based therapies. MECP2 is found on the X chromosome and regulates the transcription of thousands of genes. Loss of MECP2 gene product leads to Rett Syndrome, a disease found primarily in females, and is characterized by developmental regression, motor dysfunction, midline hand stereotypies, autonomic nervous system dysfun...
Source: Frontiers in Genetics - February 12, 2024 Category: Genetics & Stem Cells Source Type: research
Spectrum of genetic variants in bilateral sensorineural hearing loss
Conclusion: Understanding the genetic basis of HL provides insight for the clinical diagnosis of hearing impairment cases through the utilization of next-generation sequencing (NGS). Our findings contribute to the knowledge of the heterogeneous genetic profile of HL, especially in a population with a high rate of consanguineous marriage in the Arab population. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - February 12, 2024 Category: Genetics & Stem Cells Source Type: research
Retraction: Relationship between serum TGF- β 1, MMP-9 and IL-1β and pathological features and prognosis in breast cancer
(Source: Frontiers in Genetics)
Source: Frontiers in Genetics - February 9, 2024 Category: Genetics & Stem Cells Source Type: research
Retraction: Bioinformatics analysis based on crucial genes of endothelial cells in rheumatoid
(Source: Frontiers in Genetics)
Source: Frontiers in Genetics - February 9, 2024 Category: Genetics & Stem Cells Source Type: research
External proficiency testing exercises: challenges and opportunities
(Source: Frontiers in Genetics)
Source: Frontiers in Genetics - February 9, 2024 Category: Genetics & Stem Cells Source Type: research
Case report: Preimplantation genetic testing for infantile GM1 gangliosidosis
In this study, we report a case of a Russian family with a history of GM1 gangliosidosis. The family had a child who, from the age of 6 months, experienced a gradual loss of developmental skills, marked by muscle flaccidity, psychomotor retardation, hepatosplenomegaly, and the onset of tonic seizures by the age of 8 months. Funduscopic examination revealed a «cherry red spot» in the macula, which is crucial for the diagnosis of lipid storage disorders. To find the pathogenic variants responsible for these clinical symptoms, the next-generation sequencing approach was used. The analysis revealed two variants in the hete...
Source: Frontiers in Genetics - February 9, 2024 Category: Genetics & Stem Cells Source Type: research
Comprehensive transcriptomic analysis unveils the interplay of mRNA and LncRNA expression in shaping collagen organization and skin development in Dezhou donkeys
The primary focus of donkey hide gelatin processing lies in the dermal layer of donkey hide due to its abundant collagen content. However, the molecular mechanism involved in collagen organization and skin development in donkey skin tissue across various developmental stages remains incomplete. The current study aims to investigate the transcriptomic screening of lncRNAs and mRNA associated with skin development and collagen organization across different ages in Dezhou donkeys’ skin. In the pursuit of this objective, we used nine skin tissue samples obtained from Dezhou donkeys at various ages including 8-month fetal sta...
Source: Frontiers in Genetics - February 9, 2024 Category: Genetics & Stem Cells Source Type: research
Mesoplasma florum: a near-minimal model organism for systems and synthetic biology
Mesoplasma florum is an emerging model organism for systems and synthetic biology due to its small genome (∼800 kb) and fast growth rate. While M. florum was isolated and first described almost 40 years ago, many important aspects of its biology have long remained uncharacterized due to technological limitations, the absence of dedicated molecular tools, and since this bacterial species has not been associated with any disease. However, the publication of the first M. florum genome in 2004 paved the way for a new era of research fueled by the rise of systems and synthetic biology. Some of the most important studies incl...
Source: Frontiers in Genetics - February 9, 2024 Category: Genetics & Stem Cells Source Type: research
A MYH7 variant in a five-generation-family with hypertrophic cardiomyopathy
Conclusion: Herein, we report a MYH7 variant responsible for HCM. Familial HCM is inherited primarily in autosomal dominant mode, which is in accordance with our study. However, the presented family showed a broad clinical spectrum of HCM. Out of 10 family members with positive genetic testing 8 had severe presentation of the disease and 2 had a mild phenotype. This suggests that the severity of the disease may depend on other factors, most likely genetic. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - February 8, 2024 Category: Genetics & Stem Cells Source Type: research
In silico identification of human microRNAs pointing centrin genes in Leishmania donovani: Considering the RNAi-mediated gene control
In this study, we used the MirTarget bioinformatics tool, which is a machine learning-based approach implemented in miRDB, to predict the target of human miRNAs in Leishmania donovani centrin genes. For cross-validation, we utilized additional prediction algorithms, namely, RNA22 and RNAhybrid, targeting all five centrin isotypes. The centrin-3 (LDBPK_342160) and putative centrin-5 (NC_018236.1) genes in L. donovani were targeted by eight and twelve human miRNAs, respectively, among 2,635 known miRNAs (miRBase). hsa-miR-5193 consistently targeted both genes. Using TargetScan, TarBase, miRecords, and miRTarBase, we identifi...
Source: Frontiers in Genetics - February 8, 2024 Category: Genetics & Stem Cells Source Type: research
Functional impact of multi-omic interactions in lung cancer
This study introduces a theoretical and computational framework for generating network models depicting regulatory constraints on biological functions in a semi-automated way. The approach successfully identifies enriched functions in analyzed omics data, focusing on Adenocarcinoma (LUAD) and Squamous cell carcinoma (LUSC, a type of NSCLC) in the lung. Valuable information about novel regulatory characteristics, supported by robust biological reasoning, is illustrated, for instance by considering the role of genes, miRNAs and CpG sites associated with NSCLC, both novel and previously reported. Utilizing multi-omic regulato...
Source: Frontiers in Genetics - February 8, 2024 Category: Genetics & Stem Cells Source Type: research
Mitochondrial-related hub genes in dermatomyositis: muscle and skin datasets-based identification and in vivo validation
Conclusion: The mito-hub genes (IFI27, CMPK2, and LAP3) are identified in both muscles and skin tissues from DM patients. These genes may be associated with immune infiltration in DM, providing a new entry point for the pathogenesis of DM. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - February 8, 2024 Category: Genetics & Stem Cells Source Type: research
The maternal U1 haplogroup in the Koraga tribe as a correlate of their North Dravidian linguistic affinity
Discussion: Our study suggests that the U1 lineage found in the Indian subcontinent represents a remnant of a post-glacial dispersal. The presence of West Asian U1 when viewed along with historical linguistics leads us to hypothesise that Koraga represents a mother tongue retained by a vanquished population group that fled southward at the demise of the Indus civilisation as opposed to a father tongue, associated with a particular paternal lineage. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - February 7, 2024 Category: Genetics & Stem Cells Source Type: research
A novel serum m7G-harboring microRNA signature for cancer detection
Conclusion: Our results greatly extended the value of serum circulating miRNAs and m7G in cancer detection, and provided a new direction and strategy for the development of novel biomarkers with high accuracy, low cost and less invasiveness for mass cancer screening, such as ncRNA modification. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - February 7, 2024 Category: Genetics & Stem Cells Source Type: research
Leveraging the transcriptome to further our understanding of GWAS findings: eQTLs associated with genes related to LDL and LDL subclasses, in a cohort of African Americans
Conclusion: Through comprehensive differential expression analysis, we identified numerous mRNA transcripts responsive to LDL, small LDL, and large LDL. Subsequent eQTL analysis revealed a rich landscape of eQTL-mRNA associations, including a subset of eQTL reported in GWAS studies of LDL and related traits. The study serves as a testament to the important role of integrative genomics in unraveling the enigmatic GWAS relationships between genetic variants and the complex fabric of human traits and diseases. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - February 7, 2024 Category: Genetics & Stem Cells Source Type: research
