Genes, Vol. 15, Pages 588: The Segregation of p.Arg68Ter-CLDN14 Mutation in a Syrian Deaf Family, Phenotypic Variations, and Comparative Analysis with the GJB2 Gene
In this study, our objective was to identify the specific variant causing hearing loss in a family from Syria using clinical exome sequencing. The proband in the family exhibited profound deafness as shown by pure-tone audiometry results. The analysis of the different variants obtained by NGS revealed the presence of a nonsense mutation within the CLDN14 gene. Through Sanger sequencing, we verified that this variant segregates with the disease and was not present in the control population. Moreover, we conducted a comprehensive review of all reported deafness-related CLDN14 mutations and their associated phenotypes. Furthe...
Source: Genes - May 6, 2024 Category: Genetics & Stem Cells Authors: Abdelaziz Tlili Abdullah Al Mutery Jihen Chouchen Tags: Case Report Source Type: research
Genes, Vol. 15, Pages 589: Genome-Wide Identification and Characterization of the PHT1 Gene Family and Its Response to Mycorrhizal Symbiosis in Salvia miltiorrhiza under Phosphate Stress
In this study, to gain insight into the functional divergence of PHT1 genes, nine SmPHT1 genes were identified in the S. miltiorrhiza genome database via bioinformatics tools. Phylogenetic analysis revealed that the PHT1 proteins of S. miltiorrhiza, Arabidopsis thaliana, and Oryza sativa could be divided into three groups. PHT1 in the same clade has a similar gene structure and motif, suggesting that the features of each clade are relatively conserved. Further tissue expression analysis revealed that SmPHT1 was expressed mainly in the roots and stems. In addition, phenotypic changes, P content, and PHT1 gene expression wer...
Source: Genes - May 6, 2024 Category: Genetics & Stem Cells Authors: Xue Chen Yanhong Bai Yanan Lin Hongyan Liu Fengxia Han Hui Chang Menglin Li Qian Liu Tags: Article Source Type: research
Genes, Vol. 15, Pages 586: Immunogenetics of Systemic Sclerosis
tyla
Systemic sclerosis (SSc) is a rare autoimmune connective tissue disorder characterized by massive fibrosis, vascular damage, and immune imbalance. Advances in rheumatology and immunology over the past two decades have led to a redefinition of systemic sclerosis, shifting from its initial perception as primarily a “hyperfibrotic” state towards a recognition of systemic sclerosis as an immune-mediated disease. Consequently, the search for genetic markers has transitioned from focusing on fibrotic mechanisms to exploring immune regulatory pathways. Immunogenetics, an emerging field at the ...
Source: Genes - May 5, 2024 Category: Genetics & Stem Cells Authors: Olga Gumkowska-Sroka Kacper Kotyla Przemys ław Kotyla Tags: Review Source Type: research
Genes, Vol. 15, Pages 587: Genome-Wide Analysis of Transcription Factor R2R3-MYB Gene Family and Gene Expression Profiles during Anthocyanin Synthesis in Common Walnut (Juglans regia L.)
This study proceeded as follows: the JrR2R3-MYB gene family was analyzed genome-wide, and the family members were identified and characterized using the high-quality walnut reference genome “Chandler 2.0”. All 204 JrR2R3-MYBs were established and categorized into 30 subgroups via phylogenetic analysis. JrR2R3-MYBs were unevenly distributed over 16 chromosomes. Most JrR2R3-MYBs had similar structures and conservative motifs. The cis-acting elements exhibit multiple functions of JrR2R3-MYBs such as light response, metabolite response, and stress response. We found that the expansion of JrR2R3-MYBs...
Source: Genes - May 5, 2024 Category: Genetics & Stem Cells Authors: Dongjun Zuo Yujie Yan Jiayu Ma Peng Zhao Tags: Article Source Type: research
Genes, Vol. 15, Pages 585: Characterization of the Common Genetic Variation in the Spanish Population of Navarre
In conclusion, this study highlights the importance of population-specific characterization of genetic variation to improve allele frequency filtering in sequencing data analysis to identify disease-causing variants. (Source: Genes)
Source: Genes - May 4, 2024 Category: Genetics & Stem Cells Authors: Alberto Maillo Estefania Huergo Mar ía Apellániz-Ruiz Edurne Urrutia-Lafuente Mar ía Miranda Josefa Salgado Sara Pasalodos-Sanchez Luna Delgado-Mora Óscar Teijido Ibai Goicoechea Rosario Carmona Javier Perez-Florido Virginia Aquino Daniel Lopez-Lopez Tags: Brief Report Source Type: research
Genes, Vol. 15, Pages 584: Evaluation of miR-148a-3p and miR-106a-5p as Biomarkers for Prostate Cancer: Pilot Study
The objective of this investigation is to assess the relative expression levels of certain miRNAs to distinguish between prostate cancer (PCa) from benign prostatic hyperplasia (BPH). Blood plasma was collected from 66 patients diagnosed with BPH and 58 patients with PCa. Real-time PCR technology was used to evaluate the relative expression among the two groups for miR-106a-5p and miR-148a-3p. The significant downregulation of both miRNAs in plasma from PCa versus BPH patients suggests their potential utility as diagnostic biomarkers for distinguishing between these conditions. The concurrent utilization of these two miRNA...
Source: Genes - May 4, 2024 Category: Genetics & Stem Cells Authors: Roxana Andra Coman Vlad Horia Schitcu Liviuta Budisan Lajos Raduly Cornelia Braicu Bogdan Petrut Ioan Coman Ioana Berindan-Neagoe Nadim Al Hajjar Tags: Article Source Type: research
Genes, Vol. 15, Pages 582: MD3F: Multivariate Distance Drift Diffusion Framework for High-Dimensional Datasets
yenko
High-dimensional biomedical datasets have become easier to collect in the last two decades with the advent of multi-omic and single-cell experiments. These can generate over 1000 measurements per sample or per cell. More recently, focus has been drawn toward the need for longitudinal datasets, with the appreciation that important dynamic changes occur along transitions between health and disease. Analysis of longitudinal omics data comes with many challenges, including type I error inflation and corresponding loss in power when thousands of hypothesis tests are needed. Multivariate analysis can yield approaches w...
Source: Genes - May 3, 2024 Category: Genetics & Stem Cells Authors: Jessica Zielinski Patricia Corby Alexander V. Alekseyenko Tags: Article Source Type: research
Genes, Vol. 15, Pages 583: Mapping of Leaf Rust Resistance Loci in Two Kenyan Wheats and Development of Linked Markers
ert F. Park
Leaf rust caused by the pathogen Puccinia triticina (Pt) is a destructive fungal disease of wheat that occurs in almost all wheat-growing areas across the globe. Genetic resistance has proven to be the best solution to mitigate the disease. Wheat breeders are continuously seeking new diversified and durable sources of resistance to use in developing new varieties. We developed recombinant inbred line (RIL) populations from two leaf rust-resistant genotypes (Kenya Kudu and AUS12568) introduced from Kenya to identify and characterize resistance to Pt and to develop markers linked closely to the resistance tha...
Source: Genes - May 3, 2024 Category: Genetics & Stem Cells Authors: Davinder Singh Peace Kankwatsa Karanjeet S. Sandhu Urmil K. Bansal Kerrie L. Forrest Robert F. Park Tags: Article Source Type: research
Genes, Vol. 15, Pages 581: Genetic Screening & mdash;Emerging Issues
Genes, Vol. 15, Pages 581: Genetic Screening—Emerging Issues
Genes doi: 10.3390/genes15050581
Authors:
Martina C. Cornel
Karuna R. M. van der Meij
Carla G. van El
Tessel Rigter
Lidewij Henneman
In many countries, some form of genetic screening is offered to all or part of the population, either in the form of well-organized screening programs or in a less formalized way. Screening can be offered at different phases of life, such as preconception, prenatal, neonatal and later in life. Screening should only be offered if the advantages outweigh the disadvantages. Technical innovations in testing and...
Source: Genes - May 3, 2024 Category: Genetics & Stem Cells Authors: Martina C. Cornel Karuna R. M. van der Meij Carla G. van El Tessel Rigter Lidewij Henneman Tags: Review Source Type: research
Genes, Vol. 15, Pages 580: A Missense Variant in HACE1 Is Associated with Intellectual Disability, Epilepsy, Spasticity, and Psychomotor Impairment in a Pakistani Kindred
din
Saima Riazuddin
Intellectual disability (ID), which affects around 2% to 3% of the population, accounts for 0.63% of the overall prevalence of neurodevelopmental disorders (NDD). ID is characterized by limitations in a person’s intellectual and adaptive functioning, and is caused by pathogenic variants in more than 1000 genes. Here, we report a rare missense variant (c.350T>C; p.(Leu117Ser)) in HACE1 segregating with NDD syndrome with clinical features including ID, epilepsy, spasticity, global developmental delay, and psychomotor impairment in two siblings of a consanguineous Pakistani k...
Source: Genes - May 2, 2024 Category: Genetics & Stem Cells Authors: Muhammad A. Usmani Amama Ghaffar Mohsin Shahzad Javed Akram Aisha I. Majeed Kausar Malik Khushbakht Fatima Asma A. Khan Zubair M. Ahmed Sheikh Riazuddin Saima Riazuddin Tags: Brief Report Source Type: research
Genes, Vol. 15, Pages 578: Systematic Analysis of Zinc Finger-Homeodomain Transcription Factors (ZF-HDs) in Barley (Hordeum vulgare L.)
In this study, we found 8 ZF-HD genes in barley genome. Theses eight HvZF-HD genes were located on five chromosomes, and classified into ZHD and MIF subfamily. The collinearity, gene structure, conserved motif, and cis-elements of HvZF-HD genes were also analyzed. Real-time PCR results suggested that the expression of HvZF-HD4, HvZF-HD6, HvZF-HD7 and HvZF-HD8 were up-regulated after hormones (ABA, GA3 and MeJA) or PEG treatments, especially HvZF-HD6 was significantly induced. These results provide useful information of ZF-HD genes to future study aimed at barley breeding. (Source: Genes)
Source: Genes - May 1, 2024 Category: Genetics & Stem Cells Authors: Meng-Di Liu Hao Liu Wen-Yan Liu Shou-Fei Ni Zi-Yi Wang Zi-Han Geng Kong-Yao Zhu Yan-Fang Wang Yan-Hong Zhao Tags: Article Source Type: research
Genes, Vol. 15, Pages 579: Mechanism of Apoptosis in Porcine Ovarian Granulosa Cells Triggered by T-2 Toxin
Zongjun Yin
T-2 toxin (T-2), an A-type mono mycotoxin produced by various Fusarium species, disrupts DNA/RNA and protein synthesis upon entering the body, resulting in pathological conditions in various tissues/organs and posing a significant threat to human and animal health. However, the mechanisms underlying its toxicity remain unclear. With the goal of learning how T-2 affects reproduction in animals, we utilized primary porcine ovarian granulosa cells (pGCs) as a carrier in vitro and constructed concentration models for analyzing cell morphology and RNA-sequencing (RNA-seq). Our findings showed that T-2 could in...
Source: Genes - May 1, 2024 Category: Genetics & Stem Cells Authors: Yige Chen Xianrui Zheng Ren Zhou Huibin Zhang Yangguang Liu Xiaojing Hu Zongjun Yin Tags: Article Source Type: research
Genes, Vol. 15, Pages 577: Comprehensive Bioinformatic Investigation of TP53 Dysregulation in Diverse Cancer Landscapes
ynski
P53 overexpression plays a critical role in cancer pathogenesis by disrupting the intricate regulation of cellular proliferation. Despite its firmly established function as a tumor suppressor, elevated p53 levels can paradoxically contribute to tumorigenesis, influenced by factors such as exposure to carcinogens, genetic mutations, and viral infections. This phenomenon is observed across a spectrum of cancer types, including bladder (BLCA), ovarian (OV), cervical (CESC), cholangiocarcinoma (CHOL), colon adenocarcinoma (COAD), diffuse large B-cell lymphoma (DLBC), esophageal carcinoma (ESCA), head and neck squamou...
Source: Genes - April 30, 2024 Category: Genetics & Stem Cells Authors: Ruby Khan Bakht Pari Krzysztof Puszynski Tags: Article Source Type: research
Genes, Vol. 15, Pages 576: Defining a Haplotype Encompassing the LCORL-NCAPG Locus Associated with Increased Lean Growth in Beef Cattle
E. Beever
Numerous studies have shown genetic variation at the LCORL-NCAPG locus is strongly associated with growth traits in beef cattle. However, a causative molecular variant has yet to be identified. To define all possible candidate variants, 34 Charolais-sired calves were whole-genome sequenced, including 17 homozygous for a long-range haplotype associated with increased growth (QQ) and 17 homozygous for potential ancestral haplotypes for this region (qq). The Q haplotype was refined to an 814 kb region between chr6:37,199,897–38,014,080 and contained 218 variants not found in qq individuals. These v...
Source: Genes - April 30, 2024 Category: Genetics & Stem Cells Authors: Leif E. Majeres Anna C. Dilger Daniel W. Shike Joshua C. McCann Jonathan E. Beever Tags: Article Source Type: research
Genes, Vol. 15, Pages 575: A Simple Nonviral Method to Generate Human Induced Pluripotent Stem Cells Using SMAR DNA Vectors
In this study, we explored the use of nonviral SMAR DNA vectors to reprogram human fibroblasts into iPSCs. We show for the first time that iPSCs can be generated using nonviral plasmids without the use of EBNA-1 and that these DNA vectors can provide sufficient expression to induce pluripotency. We describe an optimised reprogramming protocol using these vectors that can produce high-quality iPSCs with comparable pluripotency and cellular function to those generated with viruses or EBNA-1 vectors. (Source: Genes)
Source: Genes - April 30, 2024 Category: Genetics & Stem Cells Authors: Anna Hartley Luisa Burger Cornelia L. Wincek Lieke Dons Tracy Li Annabel Grewenig Toros Ta şgın Manuela Urban Alicia Roig-Merino Mehrnaz Ghazvini Richard P. Harbottle Tags: Article Source Type: research
