Hereditary deafness carrier screening in 9,993 Chinese individuals
Conclusion: These findings confirmed the clinical utility of preconception or prenatal carrier screening for hereditary deafness. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - January 11, 2024 Category: Genetics & Stem Cells Source Type: research
Empirical validation of ProteinMPNN ’s efficiency in enhancing protein fitness
Discussion: Our research indicates that using large-scale pre trained models to design protein mutants provides a new approach for protein engineering, providing strong support for guiding biological experiments and applications in biotechnology. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - January 11, 2024 Category: Genetics & Stem Cells Source Type: research
Clinical and genetic risk factors associated with neonatal severe hyperbilirubinemia: a case –control study based on the China Neonatal Genomes Project
Conclusion: ABO/Rh incompatibility hemolysis, extravascular hemorrhage, weight loss, exclusive breastmilk feeding, and the homozygous mutant of UGT1A1 211G>A were found to be risk factors for severe unconjugated hyperbilirubinemia. Clinical factors remain the most crucial and preventable determinants in managing severe unconjugated hyperbilirubinemia, with a minimal genetic contribution. The establishment of preconception care practices and the reinforcement of screening for the aforementioned risk factors are essential steps for preventing severe unconjugated hyperbilirubinemia. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - January 11, 2024 Category: Genetics & Stem Cells Source Type: research
Assembly and analysis of the complete mitochondrial genome of the Chinese wild dwarf almond (Prunus tenella)
Conclusion: Assembly and annotation of the P. tenella mitochondrial genome provided comprehensive information about the mitochondrial genome of wild dwarf almonds, This study provides information on the mitochondrial genome of Prunus species and serves as a reference for further evolutionary studies on wild dwarf almonds. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - January 11, 2024 Category: Genetics & Stem Cells Source Type: research
Case Report: From epilepsy and uterus didelphys to Turner syndrome-associated dysgerminoma
We present a unique case of a 33-year-old nulliparous Chinese woman with intermittent epilepsy and Mullerian anomalies carrying a double uterus, cervix, and vagina. The patient is also characterized as having Turner syndrome accompanied by 46,X, del(Xp22.33-11.23) and del(2)(q11.1-11.2). MRI exhibited a 17.0 cm × 20.0 cm × 10.5 cm solid ovarian lesion. Radical surgery and pathology revealed dysgerminoma at stage IIIc with lymphatic metastases and a KIT gene mutation identified in exon 13. Furthermore, the tumor microenvironment (TME) displayed robust expression of CD4+ T lymphocytes and PD-1, whereas the distribution ...
Source: Frontiers in Genetics - January 11, 2024 Category: Genetics & Stem Cells Source Type: research
Identification of gene mutations associated with type 1 diabetes by next-generation sequencing in affected Palestinian families
Conclusion:IGF1R p.V579F and NEUROD1 p.P197H variants were associated with T1DM development in the two inflicted families. Further analysis and functional assays will be performed, including the generation of mutant model cell systems, to unravel their specific molecular mechanism in the disease development. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - January 11, 2024 Category: Genetics & Stem Cells Source Type: research
Genetics and clinical phenotypes in common variable immunodeficiency
Common variable immunodeficiency (CVID) is one of the most common symptomatic groups of inborn errors of immunity. In addition to infections resulting from insufficient levels of immune globulins and antibodies, many patients develop inflammatory or autoimmune conditions, which are associated with increased mortality. This aspect of CVID has been the focus of many studies, and dissecting the clinical phenotypes of CVID, has had the goal of providing biomarkers to identify these subjects, potentially at the time of diagnosis. With the application of whole exome (WES) and whole genome analyses, an increasing number of monoge...
Source: Frontiers in Genetics - January 11, 2024 Category: Genetics & Stem Cells Source Type: research
The burden of cystic fibrosis in North Africa
Conclusion: The prevalence of CF in North African countries is likely underestimated due to the complexity of the disease and the lack of a timely, proper clinical and genetic investigation that allows the early identification of CF patients and thus facilitates therapeutic recommendations. Therefore, specific genetic and epidemiological studies on African individuals showing CF symptoms should be conducted to enhance the diagnostic yield of CF in Africa. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - January 10, 2024 Category: Genetics & Stem Cells Source Type: research
QTL mapping: insights into genomic regions governing component traits of yield under combined heat and drought stress in wheat
Drought and heat frequently co-occur during crop growth leading to devastating yield loss. The knowledge of the genetic loci governing component traits of yield under combined drought and heat stress is essential for enhancing the climate resilience. The present study employed a mapping population of 180 recombinant inbred lines (RILs) derived from a cross between GW322 and KAUZ to identify quantitative trait loci (QTLs) governing the component traits of yield under heat and combined stress conditions. Phenotypic evaluation was conducted across two consecutive crop seasons (2021–2022 and 2022–2023) under late sown irri...
Source: Frontiers in Genetics - January 10, 2024 Category: Genetics & Stem Cells Source Type: research
Molecular epidemiological investigation of G6PD deficiency in Yangjiang region, western Guangdong province
Conclusion: This investigation into G6PD deficiency in this area is expected to significantly improve our understanding of the prevalence and molecular characterization of this condition. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - January 9, 2024 Category: Genetics & Stem Cells Source Type: research
Applying negative sample denoising and multi-view feature for lncRNA-disease association prediction
Increasing evidence indicates that mutations and dysregulation of long non-coding RNA (lncRNA) play a crucial role in the pathogenesis and prognosis of complex human diseases. Computational methods for predicting the association between lncRNAs and diseases have gained increasing attention. However, these methods face two key challenges: obtaining reliable negative samples and incorporating lncRNA-disease association (LDA) information from multiple perspectives. This paper proposes a method called NDMLDA, which combines multi-view feature extraction, unsupervised negative sample denoising, and stacking ensemble classifier....
Source: Frontiers in Genetics - January 9, 2024 Category: Genetics & Stem Cells Source Type: research
Integration of RRBS and RNA-seq unravels the regulatory role of DNMT3A in porcine Sertoli cell proliferation
DNMT3A participates in de novo methylation, yet its impact on the proliferation of testicular Sertoli cells remains unclear. Development-specific methylation has been proven to be associated with cellular development. Therefore, in this study, we simulated DNMT3A expression pattern during testicular development by DNMT3A interference. Then, RRBS and RNA-seq were used to decipher DNMT3A regulatory mechanisms on Sertoli cell proliferation. Immunofluorescence staining revealed the expression of DNMT3A in the Sertoli cells of the prepubertal testis. DNMT3A was demonstrated to inhibit the cell cycle and proliferation of Sertoli...
Source: Frontiers in Genetics - January 9, 2024 Category: Genetics & Stem Cells Source Type: research
Multi-tissue transcriptome analysis to identify candidate genes associated with weight regulation in Hanwoo cattle
In this study, we performed expression quantitative trait loci (eQTL) analysis and differential gene expression analysis to detect candidate genes influencing the weight characteristics of 32 castrated Hanwoo cattle across 22 tissues and, we identified variants that affect gene expression levels. In total, we identified a total of 3,298 differentially expressed genes, among which we discovered key genes such as UBD, RGS2, FASN, and SCD that have functions related to adipogenesis, body weight, obesity, and lipid metabolism. Gene-set enrichment analysis revealed that candidate genes in adipose tissue are involved in metaboli...
Source: Frontiers in Genetics - January 9, 2024 Category: Genetics & Stem Cells Source Type: research
Exploring the influence of DNA methylation and single nucleotide polymorphisms of the Myostatin gene on growth traits in the hybrid grouper (Epinephelus fuscoguttatus (female) × Epinephelus polyphekadion (male))
This study scrutinized the DNA methylation levels of the mstn gene across hybrid groupers (E. fuscoguttatus (♀) × E. polyphekadion (♂)) and their parental species, to evaluate its impact on growth attributes in grouper fish. The nucleotide sequence of the mstn gene was directly sequenced in the hybrid grouper, exhibiting different growth performance to identify the single nucleotide polymorphisms (SNPs) of the mstn gene and explore their correlation with growth characteristics. The findings revealed no significant differences in global DNA methylation levels within muscle tissue among the hybrid grouper and parents. H...
Source: Frontiers in Genetics - January 8, 2024 Category: Genetics & Stem Cells Source Type: research
Editorial: Genetics of inflammatory and immune diseases
(Source: Frontiers in Genetics)
Source: Frontiers in Genetics - January 8, 2024 Category: Genetics & Stem Cells Source Type: research
