Genes, Vol. 15, Pages 488: Combined Analysis of Untargeted Metabolomics and Transcriptomics Revealed Seed Germination and Seedling Establishment in Zelkova schneideriana
This study conducted metabolomic and transcriptomic analyses of seed germination and seedling establishment in Z. schneideriana. Regular expression of genes and metabolite levels has been observed in plant hormone signal transduction, starch and sucrose metabolism, linoleic acid metabolism, and phenylpropanoid biosynthesis. The reduction in abscisic acid during seed germination may lead to seed release from dormancy. After the seed is released from dormancy, the metabolic levels of auxin, cytokinins, brassinolide, and various sugars are elevated, and they are consumed in large quantities during the seedling establishment s...
Source: Genes - April 12, 2024 Category: Genetics & Stem Cells Authors: Fengxia Yan Tangmei Wei Chao Yang Yanbing Yang Zaiqi Luo Yunli Jiang Tags: Article Source Type: research

Genes, Vol. 15, Pages 489: Detailed Clinical Features of PTPRQ-Associated Hearing Loss Identified in a Large Japanese Hearing Loss Cohort
In this study, 15,684 patients with SNHL were enrolled and genetic analysis was performed using massively parallel DNA sequencing (MPS) for 63 target deafness genes. We identified 17 possibly disease-causing PTPRQ variants in 13 Japanese patients, with 15 of the 17 variants regarded as novel. The majority of variants identified in this study were loss of function. Patients with PTPRQ-associated HL mostly showed congenital or childhood onset. Their hearing levels at high frequency deteriorated earlier than that at low frequency. The severity of HL progressed from moderate to severe or profound HL. Five patients with profoun...
Source: Genes - April 12, 2024 Category: Genetics & Stem Cells Authors: Naoko Sakuma Shin-ya Nishio Shin-ichi Goto Yohei Honkura Kiyoshi Oda Hidehiko Takeda Marina Kobayashi Kozo Kumakawa Satoshi Iwasaki Masahiro Takahashi Taku Ito Yasuhiro Arai Yasuhiro Isono Natsuko Obara Takeshi Matsunobu Kimihiro Okubo Shin-ichi Usami Tags: Article Source Type: research

Genes, Vol. 15, Pages 486: Screening and Preliminary Identification of Asparagus officinalis Varieties under Low-Temperature Stress
juan Qian To meet the large demand for Asparagus officinalis in the spring market and improve the economic benefits of cultivating asparagus, we explored the molecular mechanism underlying the response of A. officinalis to low temperature. First, “Fengdao No. 1” was screened out under low-temperature treatment. Then, the transcriptome sequencing and hormone detection of “Fengdao No. 1” and “Grande” (control) were performed. Transcriptome sequencing resulted in screening out key candidate genes, while hormone analysis indicated that ABA ...
Source: Genes - April 12, 2024 Category: Genetics & Stem Cells Authors: Youju Ye Shuangshuang Wen Jiali Ying Yunfei Cai Renjuan Qian Tags: Article Source Type: research

Genes, Vol. 15, Pages 487: The Effect of Short-Term Artificial Feed Domestication on the Expression of Oxidative-Stress-Related Genes and Antioxidant Capacity in the Liver and Gill Tissues of Mandarin Fish (Siniperca chuatsi)
ui Xie Guoqing Zeng To investigate whether Mandarin fish developed oxidative stress after being domesticated with artificial feed, we conducted a series of experiments. Oxidative stress is an important factor leading to diseases and aging in the body. The liver integrates functions such as digestion, metabolism, detoxification, coagulation, and immune regulation, while the gills are important respiratory organs that are sensitive to changes in the water environment. Therefore, we used the liver and gills of Mandarin fish as research materials. The aim of this study was to investigate the effects of short-term artific...
Source: Genes - April 12, 2024 Category: Genetics & Stem Cells Authors: Zhou Zhang Xiping Yuan Hao Wu Jinwei Gao Jiayu Wu Zhenzhen Xiong Zhifeng Feng Min Xie Shaoming Li Zhonggui Xie Guoqing Zeng Tags: Article Source Type: research

Genes, Vol. 15, Pages 485: Recessive GNE Mutations in Korean Nonaka Distal Myopathy Patients with or without Peripheral Neuropathy
This study was performed to find GNE mutations in six independent distal myopathy patients with or without peripheral neuropathy using whole-exome sequencing (WES). In silico pathogenic prediction and simulation of 3D structural changes were performed for the mutant GNE proteins. As a result, we identified five pathogenic or likely pathogenic missense variants: c.86T>C (p.Met29Thr), c.527A>T (p.Asp176Val), c.782T>C (p.Met261Thr), c.1714G>C (p.Val572Leu), and c.1771G>A (p.Ala591Thr). Five affected individuals showed compound heterozygous mutations, while only one patien...
Source: Genes - April 11, 2024 Category: Genetics & Stem Cells Authors: Nasrin Tamanna Byung Kwon Pi Ah Jin Lee Sumaira Kanwal Byung-Ok Choi Ki Wha Chung Tags: Article Source Type: research

Genes, Vol. 15, Pages 484: Exploring Adiponectin in Autosomal Dominant Kidney Disease: Insight and Implications
In conclusion, adiponectin levels and the presence of ADIPOQ rs1501299 genotype are significantly associated with a worse ADPKD phenotype, indicating that both could potentially provide important insights into the disease. Further studies are warranted to understand the pathophysiological role of adiponectin in ADPKD patients. (Source: Genes)
Source: Genes - April 11, 2024 Category: Genetics & Stem Cells Authors: Ersilia Nigro Marta Mallardo Maria Amicone Daniela D ’Arco Eleonora Riccio Maurizio Marra Fabrizio Pasanisi Antonio Pisani Aurora Daniele Tags: Article Source Type: research

Genes, Vol. 15, Pages 483: LncRNA NDUFA6-DT: A Comprehensive Analysis of a Potential LncRNA Biomarker and Its Regulatory Mechanisms in Gliomas
We examined their associations with the clinical characteristics, gene mutations, diagnosis, and prognosis of gliomas. Functional enrichment analysis was employed to elucidate the potential biological mechanisms associated with these significant lncRNA signatures. We explored competing endogenous RNA (ceRNA) regulatory networks. We found that NDUFA6-DT emerged as a significant lncRNA signature in gliomas, with reduced NDUFA6-DT expression associated with a worse prognosis in gliomas. Nomogram analysis incorporating NDUFA6-DT expression levels exhibited excellent prognostic and predictive capabilities. Functional annotation...
Source: Genes - April 11, 2024 Category: Genetics & Stem Cells Authors: Ruiting Huang Ying Kong Zhiqing Luo Quhuan Li Tags: Article Source Type: research

Genes, Vol. 15, Pages 481: Association between the GLP1R A316T Mutation and Adolescent Idiopathic Scoliosis in French Canadian and Italian Cohorts
alérie Marcil Studies have revealed anthropometric discrepancies in girls with adolescent idiopathic scoliosis (AIS) compared to non-scoliotic subjects, such as a higher stature, lower weight, and lower body mass index. While the causes are still unknown, it was proposed that metabolic hormones could play a role in AIS pathophysiology. Our objectives were to evaluate the association of GLP1R A316T polymorphism in AIS susceptibility and to study its relationship with disease severity and progression. We performed a retrospective case–control association study with controls and AIS patients from an Italian...
Source: Genes - April 11, 2024 Category: Genetics & Stem Cells Authors: Émilie Normand Anita Franco Stefan Parent Giovanni Lombardi Marco Brayda-Bruno Alessandra Colombini Alain Moreau Val érie Marcil Tags: Article Source Type: research

Genes, Vol. 15, Pages 482: A Simplified Screening Model to Predict the Risk of Gestational Diabetes Mellitus in Caucasian and Latin American Pregnant Women
In conclusion, adding genetic variants enhanced the prediction model of GDM risk in CAU and LAT pregnant women. (Source: Genes)
Source: Genes - April 11, 2024 Category: Genetics & Stem Cells Authors: Mar ía Arnoriaga-Rodríguez Irene Serrano Mateo Paz Ana Barabash Johanna Valerio Laura del Valle Rocio O ’Connors Ver ónica Melero Paz de Miguel Ángel Diaz Cristina Familiar Inmaculada Moraga Mario Pazos-Guerra Mercedes Mart ínez-Novillo Miguel A. R Tags: Article Source Type: research

Genes, Vol. 15, Pages 480: Effects of Fat and Carnitine on the Expression of Carnitine Acetyltransferase and Enoyl-CoA Hydratase Short-Chain 1 in the Liver of Juvenile GIFT (Oreochromis niloticus)
ang Yuda Li Carnitine acetyltransferase (CAT) and Enoyl-CoA hydratase short-chain 1 (ECHS1) are considered key enzymes that regulate the β-oxidation of fatty acids. However, very few studies have investigated their full length and expression in genetically improved farmed tilapia (GIFT, Oreochromis niloticus), an important aquaculture species in China. Here, we cloned CAT and ECHS1 full-length cDNA via the rapid amplification of cDNA ends, and the expressions of CAT and ECHS1 in the liver of juvenile GIFT were detected in different fat and carnitine diets, as were the changes in the lipometabolic enzymes...
Source: Genes - April 10, 2024 Category: Genetics & Stem Cells Authors: Ruijie Guo Kai Huang Kai Yu Jinghua Li Jiao Huang Dandan Wang Yuda Li Tags: Article Source Type: research

Genes, Vol. 15, Pages 478: Integrated Pleiotropic Gene Set Unveils Comorbidity Insights across Digestive Cancers and Other Diseases
ngjie Jia Comorbidities are prevalent in digestive cancers, intensifying patient discomfort and complicating prognosis. Identifying potential comorbidities and investigating their genetic connections in a systemic manner prove to be instrumental in averting additional health challenges during digestive cancer management. Here, we investigated 150 diseases across 18 categories by collecting and integrating various factors related to disease comorbidity, such as disease-associated SNPs or genes from sources like MalaCards, GWAS Catalog and UK Biobank. Through this extensive analysis, we have established an integrated ple...
Source: Genes - April 10, 2024 Category: Genetics & Stem Cells Authors: Xinnan Wu Guangwen Luo Zhaonian Dong Wen Zheng Gengjie Jia Tags: Article Source Type: research

Genes, Vol. 15, Pages 479: MALAT1: A Long Non-Coding RNA with Multiple Functions and Its Role in Processes Associated with Fat Deposition
ewska Metastasis-associated lung adenocarcinoma transcript 1 (MALAT1) belongs to the lncRNA molecules, which are involved in transcriptional and epigenetic regulation and the control of gene expression, including the mechanism of chromatin remodeling. MALAT1 was first discovered during carcinogenesis in lung adenocarcinoma, hence its name. In humans, 66 of its isoforms have been identified, and in pigs, only 2 are predicted, for which information is available in Ensembl databases (Ensembl Release 111). MALAT1 is expressed in numerous tissues, including adipose, adrenal gland, heart, kidney, liver, ovary, pancreas, sigm...
Source: Genes - April 10, 2024 Category: Genetics & Stem Cells Authors: Katarzyna Pi órkowska Karolina Zygmunt Walter Hunter Ksenia Wr óblewska Tags: Review Source Type: research

Genes, Vol. 15, Pages 476: Identification and Expression Analysis of the WOX Transcription Factor Family in Foxtail Millet (Setaria italica L.)
Qin Xuemei Ren WUSCHEL-related homeobox (WOX) transcription factors are unique to plants and play pivotal roles in plant development and stress responses. In this investigation, we acquired protein sequences of foxtail millet WOX gene family members through homologous sequence alignment and a hidden Markov model (HMM) search. Utilizing conserved domain prediction, we identified 13 foxtail millet WOX genes, which were classified into ancient, intermediate, and modern clades. Multiple sequence alignment results revealed that all WOX proteins possess a homeodomain (HD). The SiWOX genes, clustered together in the phylog...
Source: Genes - April 10, 2024 Category: Genetics & Stem Cells Authors: Lizhang Nan Yajun Li Cui Ma Xiaowei Meng Yuanhuai Han Hongying Li Mingjing Huang Yingying Qin Xuemei Ren Tags: Article Source Type: research

Genes, Vol. 15, Pages 477: Detection and Analysis of Genes Affecting the Number of Thoracic Vertebrae in Licha Black Pigs
Guanghui Yu The number of thoracic vertebrae (NTV) in pigs is an important economic trait that significantly influences pork production. While the Licha black pig is a well-known Chinese pig breed with multiple thoracic vertebrae, the genetic mechanism is still unknown. Here, we performed a selective signal analysis on the genome of Licha black pigs, comparing individuals with 15 NTV versus those with 16 NTV to better understand functional genes associated with NTV. A total of 2265 selection signal regions were detected across the genome, including 527 genes and 1073 QTL that overlapped with the selection signal region...
Source: Genes - April 10, 2024 Category: Genetics & Stem Cells Authors: Yuan Wang Min Wang Xiaojin He Ruilan Dong Hongjiang Liu Guanghui Yu Tags: Article Source Type: research

Genes, Vol. 15, Pages 474: G-Protein Signaling Modulator 2 as a Potential Biomarker in Colorectal Cancer: Integrative Analysis Using Genetic Profiling and Pan-Cancer Studies
This study investigates the G-protein signaling modulator (GPSM) family across several cancers and presents a comprehensive pan-cancer analysis of the GPSM2 gene across several gastrointestinal (GI) cancers. Leveraging bioinformatics methodologies, we investigated GPSM2 expression patterns, protein interactions, functional enrichments, prognostic implications, genetic alterations, and immune infiltration associations. Furthermore, the expression of the GPSM2 gene was analyzed using real-time analysis. Our findings reveal a consistent upregulation of GPSM2 expression in all GI cancer datasets analyzed, suggesting its potent...
Source: Genes - April 9, 2024 Category: Genetics & Stem Cells Authors: Doaa Jawad Kadhim Hanieh Azari Saeideh Khorshid Sokhangouy Seyed Mahdi Hassanian Hawraa Ibrahim Alshekarchi Ladan Goshayeshi Lena Goshayeshi Mohammad Reza Abbaszadegan Fatemeh Khojasteh-Leylakoohi Majid Khazaei Ibrahim Saeed Gataa Godefridus J. Peters Gor Tags: Article Source Type: research