Corrigendum: A novel loss-of-function variant in transmembrane protein 263 (TMEM263) of autosomal dwarfism in chicken
(Source: Frontiers in Genetics)
Source: Frontiers in Genetics - January 8, 2024 Category: Genetics & Stem Cells Source Type: research
Unraveling the regulatory network of miRNA expression in Potato Y virus-infected of Nicotiana benthamiana using integrated small RNA and transcriptome sequencing
This study successfully constructed a miRNA-mRNA network through the joint analysis of Small RNA sequencing and transcriptome sequencing, which unveiled potential miRNA targets and identified potential binding sites of miRNAs on the PVY genome. This miRNA-mRNA regulatory network suggests the involvement of miRNAs in the virus infection process. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - January 8, 2024 Category: Genetics & Stem Cells Source Type: research
Piezo1 mutant zebrafish as a model of idiopathic scoliosis
This study aimed to create a model for human idiopathic scoliosis by manipulating the function of mechanosensitive channels called Piezo channels in zebrafish. Zebrafish were chosen because they experience similar biomechanical forces to humans, particularly in relation to the role of mechanical force in scoliosis progression. Here we describe piezo1 and piezo2a are involved in bone formation, with a double knockout resulting in congenital systemic malformations. However, an in-frame mutation of piezo1 led to fully penetrant juvenile-onset scoliosis, bone asymmetry, reduced tissue mineral density, and abnormal intervertebr...
Source: Frontiers in Genetics - January 8, 2024 Category: Genetics & Stem Cells Source Type: research
Navigating the genetic landscape of breast cancer in South Africa amidst a developing healthcare system
Breast cancer is a significant global health issue as it represents the leading cause of death in women worldwide. In 2021, the World Health Organization established the Global Breast Cancer Initiative framework with the aim to reduce the breast cancer mortality rate by the year 2040. In countries with developing healthcare systems, such as South Africa, the implementation of first-world technologies has been slow. We provide an overview of the strides taken to improve the cost-effectiveness of genetic service delivery for breast cancer patients in South Africa - from advances in the technology utilized for BRCA founder ge...
Source: Frontiers in Genetics - January 8, 2024 Category: Genetics & Stem Cells Source Type: research
Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease
Discussion: Importantly, whereas clinical significance is often only attributed to a conclusive diagnosis, we also observed impact on clinical decision-making for individuals in whom no genetic diagnosis was established. Hence, our experience shows that rES has an important role for patients of all ages and across the broad spectrum of rare diseases to impact clinical outcomes. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - January 8, 2024 Category: Genetics & Stem Cells Source Type: research
Characterization of cardiac involvement in patients with LMNA splice-site mutation –related dilated cardiomyopathy and sudden cardiac death
Discussion: Above all, Cardiaccardiac involvement in patients with LMNA splice-site mutation presented with a high rate of SCD. Implanting a pacemaker significantly reduced the SCD rate in non-DCM patients with AVB. The pathogenic characterization was not only haveinvolved suppressed the expression of the healthy LMNA allele, but was also associated with abnormal expression and distribution of desmin and Cx43. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - January 8, 2024 Category: Genetics & Stem Cells Source Type: research
Genetic causality and site-specific relationship between sarcopenia and osteoarthritis: a bidirectional Mendelian randomization study
Conclusion: This present study suggests an obvious causality of SP on OA, with condition exhibiting site-specific effects, while evidence was also provided for the causal effect of OA on SP. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - January 8, 2024 Category: Genetics & Stem Cells Source Type: research
Differential expression of miRNAs revealed by small RNA sequencing in traumatic tracheal stenosis
Conclusion: Among all the miRNAs detected, 24 miRNAs demonstrated differential expression between the TTS and normal control groups. A total of 2,496 target genes were predicted by bioinformation technology and enriched in inflammatory and fibrotic signaling pathways. These results provide new ideas for further studies and the selection of targets for TTS in the future. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - January 8, 2024 Category: Genetics & Stem Cells Source Type: research
ACCESS: an empirically-based framework developed by the International Nursing CASCADE Consortium to address genomic disparities through the nursing workforce
Discussion: ACCESS provides a standardized, systematic, situational, and unifying guide to practice and is applicable for nursing and for other healthcare professions. When appropriately enacted it will contribute towards equitable access to genomic resources and services. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - January 8, 2024 Category: Genetics & Stem Cells Source Type: research
nPCA: a linear dimensionality reduction method using a multilayer perceptron
Conclusion: We concluded that the nPCA method is a competitive alternative method for dimensionality reduction tasks. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - January 8, 2024 Category: Genetics & Stem Cells Source Type: research
Case report: A novel mutation in the EYA1 gene in a child with branchiootic syndrome with secretory otitis media and bilateral vestibular hypofunction
Branchiootic syndrome (BOS) is a rare, autosomal dominant syndrome characterized by malformations of the ear associated with hearing loss, second branchial arch anomalies, and the absence of renal anomalies. Herein, we report the case of an 8-year-old male patient with BOS. The proband also experiences mixed conductive and sensorineural hearing loss in the right ear, and severe-to-profound sensorineural hearing loss in the left ear. Preauricular pits, branchial fistulae, and cochlear hypoplasia were present bilaterally. Type III cup-shaped ear, and external auditory canal stenosis were detected in the right ear. Lateral se...
Source: Frontiers in Genetics - January 8, 2024 Category: Genetics & Stem Cells Source Type: research
Small supernumerary marker chromosomes in prenatal diagnosis —molecular characterization and clinical outcomes
We report prenatal 12 sSMC cases detected in a single center during 10 years period, their molecular characterization by fluorescence in situ hybridization (FISH) or chromosomal microarray (CMA). Those cases were found among 9620 prenatal diagnostic analyzes by GTG-banding technique. In selected cases, additional UPD testing was also done.Results: Incidence of sSMCs in our study was 0.12%. sSMC characterization was done by FISH in 9 cases, in the remainder of three CMA was employed. The most common sSMC shape was centric minute, followed by inverted duplication and one case with ring conformation. sSMCs originating from a...
Source: Frontiers in Genetics - January 8, 2024 Category: Genetics & Stem Cells Source Type: research
Genetic interactions of schizophrenia using gene-based statistical epistasis exclusively identify nervous system-related pathways and key hub genes
Conclusion: Unlike model organisms, this approach is specifically viable in humans due to the availability of abundant disease-specific genome-wide genotype datasets. The study exclusively identified brain/nervous system-related processes, affirming the findings. This computational approach fills a critical gap by generating practically non-existent heritable disease-specific human GIs from human genetic data. These novel datasets can train innovative deep-learning models, potentially surpassing the limitations of conventional GWAS. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - January 8, 2024 Category: Genetics & Stem Cells Source Type: research
Population structure, dispersion patterns and genetic diversity of two major invasive and commensal zoonotic disease hosts (Rattus norvegicus and Rattus tanezumi) from the southeastern coast of China
Conclusion: The data in this paper confirm the two invasive rodent species from the southeastern coastal region of China may have relied on maritime transport to spread from the southern region of China to the Yangtze River basin. R. tanezumi may then hanve migrated unidirectionally, along the southeastern provinces of China towards the north, while R. norvegicus spread in a complex and multidirectional manner in Hainan, Fujian, Zhejiang and Jiangsu Provinces of the country. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - January 8, 2024 Category: Genetics & Stem Cells Source Type: research
Polyketide synthases mutation in tuberculosis transmission revealed by whole genomic sequence, China, 2011 –2019
Conclusion: Overall, this study provides new insights into the function of PKS and its localization in M. tuberculosis. The study found that ppsA, pks12, and pks13 may contribute to disease progression and higher transmission of certain strains. We also discussed the prospective use of mutant ppsA, pks12, and pks13 genes as drug targets. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - January 8, 2024 Category: Genetics & Stem Cells Source Type: research
