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Extraction of Innate Immune Genes in Dairy Cattle and the Regulation of Their Expression in Early Embryos Genes (IF 3.5) Pub Date : 2024-03-18 Xue Wang, Lili Guo, Wenguang Zhang
As more and more of the available genomic data have been published, several databases have been developed for deciphering early mammalian embryogenesis; however, less research has been conducted on the regulation of the expression of natural immunity genes during early embryonic development in dairy cows. To this end, we explored the regulatory mechanism of innate immunity genes at the whole-genome
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PDE4 Gene Family Variants Are Associated with Response to Apremilast Treatment in Psoriasis Genes (IF 3.5) Pub Date : 2024-03-17 Kalliopi Liadaki, Efterpi Zafiriou, Themistoklis Giannoulis, Sofia Alexouda, Kleoniki Chaidaki, Polyxeni Gidarokosta, Angeliki-Viktoria Roussaki-Schulze, Sotirios G. Tsiogkas, Athina Daponte, Zissis Mamuris, Dimitrios P. Bogdanos, Nicholas K. Moschonas, Theologia Sarafidou
Moderate-to-severe psoriasis (Ps) treatment includes systemic drugs and biological agents. Apremilast, a small molecule primarily metabolized by cytochrome CYP3A4, modulates the immune system by specifically inhibiting phosphodiesterase type 4 (PDE4) isoforms and is currently used for the treatment of Ps and psoriatic arthritis (PsA). Clinical trials and real-world data showed variable efficacy in
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Advancements in Viral Gene Therapy for Gaucher Disease Genes (IF 3.5) Pub Date : 2024-03-15 Akhil Kulkarni, Tiffany Chen, Ellen Sidransky, Tae-Un Han
Gaucher disease, an autosomal recessively inherited lysosomal storage disorder, results from biallelic mutations in the GBA1 gene resulting in deficient activity of the enzyme glucocerebrosidase. In Gaucher disease, the reduced levels and activity of glucocerebrosidase lead to a disparity in the rates of formation and breakdown of glucocerebroside and glucosylsphingosine, resulting in the accumulation
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Dynamics of Mitochondrial DNA Copy Number and Membrane Potential in Mouse Pre-Implantation Embryos: Responses to Diverse Types of Oxidative Stress Genes (IF 3.5) Pub Date : 2024-03-16 Yasmyn E. Winstanley, Jun Liu, Deepak Adhikari, Macarena B. Gonzalez, Darryl L. Russell, John Carroll, Rebecca L. Robker
Mitochondria undergo a myriad of changes during pre-implantation embryo development, including shifts in activity levels and mitochondrial DNA (mtDNA) replication. However, how these distinct aspects of mitochondrial function are linked and their responsiveness to diverse stressors is not well understood. Here, we show that mtDNA content increased between 8-cell embryos and the blastocyst stage, with
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Selection Signatures Reveal Candidate Genes for the Cornish Rex Breed-Specific Phenotype Genes (IF 3.5) Pub Date : 2024-03-16 Minja Zorc, Tajda Horvat, Anja Tanšek, Tamara Ferme, Peter Dovč
Many coat color, behavioral and morphological traits are specific and fixed across cat breeds, with several variants influencing these traits being common among different breeds. In the domestic cat, rexoid mutations have been documented in several breeds. In the Cornish Rex, four bp deletion in the LPAR6 gene has been found to cause a frame shift and a premature stop codon. In addition to the rexoid
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Characterization and Functional Analysis of Fads Reveals Δ5 Desaturation Activity during Long-Chain Polyunsaturated Fatty Acid Biosynthesis in Dwarf Surf Clam Mulinia lateralis Genes (IF 3.5) Pub Date : 2024-03-15 Tianhao Teng, Zhenghua Zheng, Wenqian Jiao, Na Liu, Ao Wang, Mengjiao Liu, Le Xie, Zujing Yang, Jingjie Hu, Zhenmin Bao
Fatty acid desaturases (Fads), as key enzymes in the biosynthesis of long-chain polyunsaturated fatty acids (LC-PUFAs), catalyze the desaturation between defined carbons of fatty acyl chains and control the degree of unsaturation of fatty acids. In the present study, two Fads genes, designated MulFadsA and MulFadsB, were identified from the genome of the dwarf surf clam Mulinia lateralis (Mollusca
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Overexpression of NtGPX8a Improved Cadmium Accumulation and Tolerance in Tobacco (Nicotiana tabacum L.) Genes (IF 3.5) Pub Date : 2024-03-15 Xiang Peng, Tengfei Ma, Kejin Song, Xue Ji, Lien Xiang, Nan Chen, Ronglei Zu, Wenyi Xu, Shunqin Zhu, Wanhong Liu
Cadmium (Cd)-induced oxidative stress detrimentally affects hyperaccumulator growth, thereby diminishing the efficacy of phytoremediation technology aimed at Cd pollution abatement. In the domain of plant antioxidant mechanisms, the role of glutathione peroxidase (GPX) in conferring Cd tolerance to tobacco (Nicotiana tabacum) remained unclear. Our investigation employed genome-wide analysis to identify
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A POT1 Founder Variant Associated with Early Onset Recurrent Melanoma and Various Solid Malignancies Genes (IF 3.5) Pub Date : 2024-03-13 Aasem Abu Shtaya, Inbal Kedar, Lily Bazak, Lina Basel-Salmon, Sarit Farage Barhom, Michal Naftali, Marina Eskin-Schwartz, Ohad S. Birk, Shirley Polager-Modan, Nitzan Keidar, Gili Reznick Levi, Zohar Levi, Tamar Yablonski-Peretz, Ahmad Mahamid, Ori Segol, Reut Matar, Yifat Bareli, Noy Azoulay, Yael Goldberg
POT1 (Protection of Telomeres 1) is a key component of the six-membered shelterin complex that plays a critical role in telomere protection and length regulation. Germline variants in the POT1 gene have been implicated in predisposition to cancer, primarily to melanoma and chronic lymphocytic leukemia (CLL). We report the identification of POT1 p.(I78T), previously ranked with conflicting interpretations
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Variation of FMRP Expression in Peripheral Blood Mononuclear Cells from Individuals with Fragile X Syndrome Genes (IF 3.5) Pub Date : 2024-03-13 Jamie L. Randol, Kyoungmi Kim, Matthew D. Ponzini, Flora Tassone, Alexandria K. Falcon, Randi J. Hagerman, Paul J. Hagerman
Fragile X syndrome (FXS) is the most common heritable cause of intellectual disability and autism spectrum disorder. The syndrome is often caused by greatly reduced or absent protein expression from the fragile X messenger ribonucleoprotein 1 (FMR1) gene due to expansion of a 5′-non-coding trinucleotide (CGG) element beyond 200 repeats (full mutation). To better understand the complex relationships
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Transcriptome Analysis of miRNA and mRNA in Porcine Skeletal Muscle following Glaesserella parasuis Challenge Genes (IF 3.5) Pub Date : 2024-03-13 Huanhuan Zhou, Xuexue Chen, Xiangwei Deng, Xiaoyu Zhang, Xinqi Zeng, Ke Xu, Hongbo Chen
Glaesserella parasuis (G. parasuis) causes systemic infection in pigs, but its effects on skeletal muscle and underlying mechanisms are poorly understood. We investigated G. parasuis infection in colostrum-deprived piglets, observing decreased daily weight gain and upregulation of inflammatory factors in skeletal muscle. Muscle fiber area and diameter were significantly reduced in the treated group
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Starting DNA Synthesis: Initiation Processes during the Replication of Chromosomal DNA in Humans Genes (IF 3.5) Pub Date : 2024-03-14 Heinz Peter Nasheuer, Anna Marie Meaney
The initiation reactions of DNA synthesis are central processes during human chromosomal DNA replication. They are separated into two main processes: the initiation events at replication origins, the start of the leading strand synthesis for each replicon, and the numerous initiation events taking place during lagging strand DNA synthesis. In addition, a third mechanism is the re-initiation of DNA
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Genomic Characterization of SARS-CoV-2 Variants from Clinical Isolates during the COVID-19 Epidemic in Mauritania Genes (IF 3.5) Pub Date : 2024-03-14 Jemila Deida, Nasserdine Papa Mze, Mamadou Beye, Sidi Mohamed Ahmed, Ahmed El Bara, Mohamed Abdallahi Bollahi, Leonardo Basco, Ali Ould Mohamed Salem Boukhary, Pierre-Edouard Fournier
The rapid genetic evolution of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) during the coronavirus disease 2019 (COVID-19) pandemic has greatly challenged public health authorities worldwide, including in Mauritania. Despite the presence of the virus in Mauritania, only one study described its genomic variation during the course of the epidemic. The purpose of the present study
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Dissecting the Genetic Diversity of USDA Cowpea Germplasm Collection Using Kompetitive Allele Specific PCR-Single Nucleotide Polymorphism Markers Genes (IF 3.5) Pub Date : 2024-03-14 Jesse Potts, Vincent N. Michael, Geoffrey Meru, Xingbo Wu, Matthew W. Blair
Cowpea (Vigna unguiculata L. Walp) is an important grain legume crop of the subtropics, particularly in West Africa, where it contributes to the livelihoods of small-scale farmers. Despite being a drought-resilient crop, cowpea production is hampered by insect pests, diseases, parasitic weeds, and various abiotic stresses. Genetic improvement can help overcome these limitations, and exploring diverse
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The Risk Genes for Neuropsychiatric Disorders negr1 and opcml Are Expressed throughout Zebrafish Brain Development Genes (IF 3.5) Pub Date : 2024-03-14 Judith Habicher, Ilaria Sanvido, Anja Bühler, Samuele Sartori, Giovanni Piccoli, Matthias Carl
The immunoglobulin LAMP/OBCAM/NTM (IgLON) family of cell adhesion molecules comprises five members known for their involvement in establishing neural circuit connectivity, fine-tuning, and maintenance. Mutations in IgLON genes result in alterations in these processes and can lead to neuropsychiatric disorders. The two IgLON family members NEGR1 and OPCML share common links with several of them, such
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Population Structure and Selection Signal Analysis of Nanyang Cattle Based on Whole-Genome Sequencing Data Genes (IF 3.5) Pub Date : 2024-03-11 Yan Zhang, Zhitong Wei, Man Zhang, Shiwei Wang, Tengyun Gao, Hetian Huang, Tianliu Zhang, Hanfang Cai, Xian Liu, Tong Fu, Dong Liang
With a rich breeding history, Nanyang cattle (NY cattle) have undergone extensive natural and artificial selection, resulting in distinctive traits such as high fertility, excellent meat quality, and disease resistance. This makes them an ideal model for studying the mechanisms of environmental adaptability. To assess the population structure and genetic diversity of NY cattle, we performed whole-genome
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Genome-Wide Identification and Expression Analysis of the DMP and MTL Genes in Sweetpotato (Ipomoea batatas L.) Genes (IF 3.5) Pub Date : 2024-03-12 Zhiyuan Pan, Zongyun Li, Yonghua Han, Jian Sun
Sweetpotato (Ipomoea batatas L.) is a strategic crop with both economic and energy value. However, improving sweetpotato varieties through traditional breeding approaches can be a time-consuming and labor-intensive process due to the complex genetic nature of sweetpotato as a hexaploid species (2n = 6x = 90). Double haploid (DH) breeding, based on in vivo haploid induction, provides a new approach
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Whole-Exome Sequencing (WES) Reveals Novel Sex-Specific Gene Variants in Non-Alcoholic Steatohepatitis (MASH) Genes (IF 3.5) Pub Date : 2024-03-13 Jing Wei, Boyang Jason Wu, Sayed S. Daoud
Non-alcoholic steatohepatitis (NASH, also known as MASH) is a severe form of non-alcoholic fatty liver disease (NAFLD, also known as MASLD). Emerging data indicate that the progression of the disease to MASH is higher in postmenopausal women and that genetic susceptibility increases the risk of MASH-related cirrhosis. This study aimed to investigate the association between genetic polymorphisms in
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New Genetic Markers of Skin T-Cell Lymphoma Treatment Genes (IF 3.5) Pub Date : 2024-03-13 Vladimír Vašků, Petra Fialová, Anna Vašků
Aim: Cutaneous T-cell lymphomas (CTCL) can be described as chronic skin inflammation lesions with the content of malignant T cells and they are considered to be T-cell-mediated skin diseases. CD147 is recognized as a 58-kDa cell surface glycoprotein of the immunoglobulin superfamily; it can induce the synthesis of MMPs (matrix metalloproteinases) on the surface of tumor cells where it was originally
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Genome-Wide DNA Methylation Analysis and Functional Validation of Litter Size Traits in Jining Grey Goats Genes (IF 3.5) Pub Date : 2024-03-12 Cunming Yang, Junmin He, Jingyi Mao, Yifan Ren, Guifen Liu, Chen Wei, Guoping Zhang, Kechuan Tian, Xixia Huang
DNA methylation (DNAm) is associated with the reproductive system. However, the genetic mechanism through which DNAm regulates gene expression and thus affects litter size in goats is unclear. Therefore, in the present work, genome-wide DNAm profiles of HP and LP Jining Grey goat ovary tissues were comprehensively analyzed via WGBS, and RNA-Seq data were combined to identify candidate genes associated
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Leukodystrophy with Macrocephaly, Refractory Epilepsy, and Severe Hyponatremia—The Neonatal Type of Alexander Disease Genes (IF 3.5) Pub Date : 2024-03-11 Justyna Paprocka, Magdalena Nowak, Magdalena Machnikowska-Sokołowska, Karolina Rutkowska, Rafał Płoski
Introduction: Alexander disease (AxD) is a rare neurodegenerative condition that represents the group of leukodystrophies. The disease is caused by GFAP mutation. Symptoms usually occur in the infantile age with macrocephaly, developmental deterioration, progressive quadriparesis, and seizures as the most characteristic features. In this case report, we provide a detailed clinical description of the
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A New Cloud-Native Tool for Pharmacogenetic Analysis Genes (IF 3.5) Pub Date : 2024-03-11 David Yu Yuan, Jun Hyuk Park, Zhenyu Li, Rohan Thomas, David M. Hwang, Lei Fu
Background: The advancement of next-generation sequencing (NGS) technologies provides opportunities for large-scale Pharmacogenetic (PGx) studies and pre-emptive PGx testing to cover a wide range of genotypes present in diverse populations. However, NGS-based PGx testing is limited by the lack of comprehensive computational tools to support genetic data analysis and clinical decisions. Methods: Bioinformatics
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Unveiling the Impact of ApoF Deficiency on Liver and Lipid Metabolism: Insights from Transcriptome-Wide m6A Methylome Analysis in Mice Genes (IF 3.5) Pub Date : 2024-03-09 Xuebin Shen, Mengting Chen, Jian Zhang, Yifan Lin, Xinyue Gao, Jionghong Tu, Kunqi Chen, An Zhu, Shanghua Xu
Lipid metabolism participates in various physiological processes and has been shown to be connected to the development and progression of multiple diseases, especially metabolic hepatopathy. Apolipoproteins (Apos) act as vectors that combine with lipids, such as cholesterol and triglycerides (TGs). Despite being involved in lipid transportation and metabolism, the critical role of Apos in the maintenance
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A Single-Cell Transcriptome of Bovine Milk Somatic Cells Genes (IF 3.5) Pub Date : 2024-03-10 Minja Zorc, Mateja Dolinar, Peter Dovč
The production of milk by dairy cows far exceeds the nutritional needs of the calf and is vital for the economical use of dairy cattle. High milk yield is a unique production trait that can be effectively enhanced through traditional selection methods. The process of lactation in cows serves as an excellent model for studying the biological aspects of lactation with the aim of exploring the mechanistic
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Genome-Wide and Expression Pattern Analysis of the HIT4 Gene Family Uncovers the Involvement of GHHIT4_4 in Response to Verticillium Wilt in Gossypium hirsutum Genes (IF 3.5) Pub Date : 2024-03-09 Guoli Zhang, Yang Jiao, Zengqiang Zhao, Quanjia Chen, Zhijun Wang, Jincheng Zhu, Ning Lv, Guoqing Sun
Chromatin remodelers are essential for regulating plant growth, development, and responses to environmental stresses. HIT4 (HEAT-INTOLERANT 4) is a novel stress-induced chromatin remodeling factor that has been less studied in abiotic stress and stress resistance, particularly in cotton. In this study, we conducted a comprehensive analysis of the members of the HIT4 gene family in Gossypium hirsutum
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Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature Genes (IF 3.5) Pub Date : 2024-03-08 Valentina Trevisan, Anna Meroni, Chiara Leoni, Fabio Sirchia, Davide Politano, Giacomo Fiandrino, Valentina Giorgio, Donato Rigante, Domenico Limongelli, Lucrezia Perri, Elisabetta Sforza, Francesca Leonardi, Germana Viscogliosi, Ilaria Contaldo, Daniela Orteschi, Luca Proietti, Giuseppe Zampino, Roberta Onesimo
Background: Among aneuploidies compatible with life, trisomy 22 mosaicism is extremely rare, and only about 25 postnatal and 18 prenatal cases have been described in the literature so far. The condition is mainly characterized by facial and body asymmetry, cardiac heart defects, facial dysmorphisms, growth failure, delayed puberty, and variable degrees of neurodevelopmental delay. Problem: The scattered
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Optimization and Performance Analysis of CAT Method for DNA Sequence Similarity Searching and Alignment Genes (IF 3.5) Pub Date : 2024-03-07 Veska Gancheva, Hristo Stoev
Bioinformatics is a rapidly developing field enabling scientific experiments via computer models and simulations. In recent years, there has been an extraordinary growth in biological databases. Therefore, it is extremely important to propose effective methods and algorithms for the fast and accurate processing of biological data. Sequence comparisons are the best way to investigate and understand
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Optical Genome Mapping as a Potential Routine Clinical Diagnostic Method Genes (IF 3.5) Pub Date : 2024-03-07 Hayk Barseghyan, Doris Eisenreich, Evgenia Lindt, Martin Wendlandt, Florentine Scharf, Anna Benet-Pages, Kai Sendelbach, Teresa Neuhann, Angela Abicht, Elke Holinski-Feder, Udo Koehler
Chromosome analysis (CA) and chromosomal microarray analysis (CMA) have been successfully used to diagnose genetic disorders. However, many conditions remain undiagnosed due to limitations in resolution (CA) and detection of only unbalanced events (CMA). Optical genome mapping (OGM) has the potential to address these limitations by capturing both structural variants (SVs) resulting in copy number changes
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Metabolomic and Transcriptomic Analyses Reveal the Molecular Mechanism Underlying the Massive Accumulation of Secondary Metabolites in Fenugreek (Trigonella foenum-graecum L.) Seeds Genes (IF 3.5) Pub Date : 2024-03-07 Qiuyu Zhao, Guoxing Wu, Pu Yang, Yuanchong Shi, Zuoyi Fu, Haifeng Mo, Chunlan Shi, Shuhui Yu
Fenugreek (Trigonella foenum-graecum L.) is a traditional medicinal plant for treating human diseases that is widely cultivated in many countries. However, the component and related metabolic pathways are still unclear. To understand the changes in expression of the component and related genes during seed development, this study employed metabolomic and transcriptomic analyses and integrative analysis
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Computing Power and Sample Size for the False Discovery Rate in Multiple Applications Genes (IF 3.5) Pub Date : 2024-03-07 Yonghui Ni, Anna Eames Seffernick, Arzu Onar-Thomas, Stanley B. Pounds
The false discovery rate (FDR) is a widely used metric of statistical significance for genomic data analyses that involve multiple hypothesis testing. Power and sample size considerations are important in planning studies that perform these types of genomic data analyses. Here, we propose a three-rectangle approximation of a p-value histogram to derive a formula to compute the statistical power and
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Spectrum of Mutations in PTPN11 in Russian Cohort Genes (IF 3.5) Pub Date : 2024-03-07 Anna Orlova, Daria Guseva, Nina Demina, Aleksander Polyakov, Oksana Ryzhkova
Noonan syndrome is a group of diseases with a similar clinical picture, consisting of 16 diseases caused by mutations in 15 genes. According to the literature, approximately half of all cases are attributed to Noonan syndrome type 1, NSML, caused by mutations in the PTPN11 gene. We analyzed 456 unrelated probands using a gene panel NGS, and in 206 cases, the cause of the disease was identified. Approximately
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Investigating Associations between HLA-DR Genotype, H. pylori Infection, and Anti-CagA IgA Seropositivity in a Turkish Gastritis Cohort Genes (IF 3.5) Pub Date : 2024-03-06 Lokman Karataş, Zeynep Tatar, Eddie A. James, Mukaddes Colakogullari
Helicobacter pylori (H. pylori) is associated with gastric inflammation and mucosal antibodies against its cytotoxin-associated gene A (CagA) are protective. Vaccine-elicited immunity against H. pylori requires MHC class II expression, indicating that CD4+ T cells are protective. We hypothesized that the HLA-DR genotypes in human populations include protective alleles that more effectively bind immunogenic
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Computational Tools to Assist in Analyzing Effects of the SERPINA1 Gene Variation on Alpha-1 Antitrypsin (AAT) Genes (IF 3.5) Pub Date : 2024-03-06 Jakub Mróz, Magdalena Pelc, Karolina Mitusińska, Joanna Chorostowska-Wynimko, Aleksandra Jezela-Stanek
In the rapidly advancing field of bioinformatics, the development and application of computational tools to predict the effects of single nucleotide variants (SNVs) are shedding light on the molecular mechanisms underlying disorders. Also, they hold promise for guiding therapeutic interventions and personalized medicine strategies in the future. A comprehensive understanding of the impact of SNVs in
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Identification and Transcriptome Analysis of a Novel Allelic Mutant of NAL1 in Rice Genes (IF 3.5) Pub Date : 2024-03-02 Yang Wang, Wanxin Xu, Yan Liu, Jie Yang, Xin Guo, Jiaruo Zhang, Jisong Pu, Nenggang Chen, Wenfeng Zhang
Leaf morphology is a crucial aspect of plant architecture, yet the molecular mechanisms underlying leaf development remain incompletely understood. In this study, a narrow leaf mutant, m625, was identified in rice (Oryza sativa L.), exhibiting pleiotropic developmental defects. Pigment measurement revealed reduced levels of photochromic pigments in m625. Cytological analysis demonstrated that the m625
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FOXO3/Rab7-Mediated Lipophagy and Its Role in Zn-Induced Lipid Metabolism in Yellow Catfish (Pelteobagrus fulvidraco) Genes (IF 3.5) Pub Date : 2024-03-04 Fei Xiao, Chuan Chen, Wuxiao Zhang, Jiawei Wang, Kun Wu
Lipophagy is a selective autophagy that regulates lipid metabolism and reduces hepatic lipid deposition. However, the underlying mechanism has not been understood in fish. In this study, we used micronutrient zinc (Zn) as a regulator of autophagy and lipid metabolism and found that Ras-related protein 7 (rab7) was involved in Zn-induced lipophagy in hepatocytes of yellow catfish Pelteobagrus pelteobagrus
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Genomic and Expression Analysis of Cassava (Manihot esculenta Crantz) Chalcone Synthase Genes in Defense against Tetranychus cinnabarinus Infestation Genes (IF 3.5) Pub Date : 2024-03-05 Yanni Yang, Ming Liu, Zenghui Huang
Cassava is susceptible to mites, especially Tetranychus cinnabarinus. Secondary metabolism products such as flavonoids play an important role as antimicrobial metabolites protecting plants against biotic stressors including fungal, pathogen, bacterial, and pest defense. The chalcone synthase (CHS) is the initial step of the phenylpropanoid pathway for producing flavonoids and is the gatekeeper of the
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Role of Post-Transcriptional Regulation in Learning and Memory in Mammals Genes (IF 3.5) Pub Date : 2024-03-05 Carlo Maria Di Liegro, Gabriella Schiera, Giuseppe Schirò, Italia Di Liegro
After many decades, during which most molecular studies on the regulation of gene expression focused on transcriptional events, it was realized that post-transcriptional control was equally important in order to determine where and when specific proteins were to be synthesized. Translational regulation is of the most importance in the brain, where all the steps of mRNA maturation, transport to different
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miRNA as a Biomarker for the Early Detection of Colorectal Cancer Genes (IF 3.5) Pub Date : 2024-03-05 David Coleman, Scott Kuwada
MicroRNAs (miRNAs) are short, non-coding RNA segments that can be detected in a variety of clinical samples, including serum, stool, and urine. While miRNAs were initially known for their effect on post-translational gene expression, the last decade of research has shown them to be promising biomarkers for the detection of many types of cancer. This paper explores the use of miRNA detection as a tool
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A Human Homozygous HELQ Missense Variant Does Not Cause Premature Ovarian Insufficiency in a Mouse Model Genes (IF 3.5) Pub Date : 2024-03-04 Shabnam Bakhshalizadeh, Anthony D. Bird, Rajini Sreenivasan, Katrina M. Bell, Gorjana Robevska, Jocelyn van den Bergen, Mohammad Asghari-Jafarabadi, Andrew J. Kueh, Philippe Touraine, Anna Lokchine, Sylvie Jaillard, Katie L. Ayers, Dagmar Wilhelm, Andrew H. Sinclair, Elena J. Tucker
Disruption of meiosis and DNA repair genes is associated with female fertility disorders like premature ovarian insufficiency (POI). In this study, we identified a homozygous missense variant in the HELQ gene (c.596 A>C; p.Gln199Pro) through whole exome sequencing in a POI patient, a condition associated with disrupted ovarian function and female infertility. HELQ, an enzyme involved in DNA repair
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The Genetics of Tuberous Sclerosis Complex and Related mTORopathies: Current Understanding and Future Directions Genes (IF 3.5) Pub Date : 2024-03-04 Alice Man, Matteo Di Scipio, Shan Grewal, Yujin Suk, Elisabetta Trinari, Resham Ejaz, Robyn Whitney
The mechanistic target of rapamycin (mTOR) pathway serves as a master regulator of cell growth, proliferation, and survival. Upregulation of the mTOR pathway has been shown to cause malformations of cortical development, medically refractory epilepsies, and neurodevelopmental disorders, collectively described as mTORopathies. Tuberous sclerosis complex (TSC) serves as the prototypical mTORopathy. Characterized
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Transcriptomics of Leaf Development in the Endangered Dioecious Magnolia kwangsiensis: Molecular Basis Underpinning Specialized Metabolism Genes Genes (IF 3.5) Pub Date : 2024-03-04 Guole Qin, Xiaodong Li, Yingcan Qin, Linyuan Lu, Lixia Gao, Delong Guan
Magnolia kwangsiensis, a dioecious tree native to China, is recognized not only for its status as an at-risk species but also for its potential in therapeutic applications courtesy of its bioactive compounds. However, the genetic underpinnings of its leaf development and compound biosynthesis are not well documented. Our study aims to bridge this knowledge gap through comparative transcriptomics, analyzing
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Large-Scale Cytochrome C Oxidase Subunit I Gene Data Analysis for the Development of a Multiplex Polymerase Chain Reaction Test Capable of Identifying Biting Midge Vector Species and Haplotypes (Diptera: Ceratopogonidae) of the Culicoides Subgenus Avaritia Fox, 1955 Genes (IF 3.5) Pub Date : 2024-03-01 Oliver Dähn, Doreen Werner, Bruno Mathieu, Helge Kampen
The emergence of culicoid-transmitted bluetongue and Schmallenberg viruses in several European countries demonstrated the ability of indigenous biting midge species to transmit pathogens. Entomologic research programs identified members of the Obsoletus Group (Culicoides subgenus Avaritia) as keyplayers in disease epidemiology in Europe. However, morphological identification of potential vectors is
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CrJAT1 Regulates Endogenous JA Signaling for Modulating Monoterpenoid Indole Alkaloid Biosynthesis in Catharanthus roseus Genes (IF 3.5) Pub Date : 2024-03-02 Mengxia Zhang, Bingrun Yang, Yanyan Wang, Fang Yu
Many monoterpenoid indole alkaloids (MIAs) produced in Catharanthus roseus have demonstrated biological activities and clinical potential. However, their complex biosynthesis pathway in plants leads to low accumulation, limiting therapeutic applications. Efforts to elucidate the MIA biosynthetic regulatory mechanism have focused on improving accumulation levels. Previous studies revealed that jasmonic
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Genome-Wide Investigation of the PLD Gene Family in Tomato: Identification, Analysis, and Expression Genes (IF 3.5) Pub Date : 2024-03-02 Xudong Guo, Wenying Zhu, Fu Wang, Hui Wang
Phospholipase Ds (PLDs) are important phospholipid hydrolases in plants that play crucial roles in the regulation of plant growth, development, and stress tolerance. In this study, 14 PLD genes were identified in the tomato genome and were localized on eight chromosomes, and one tandem-duplicated gene pair was identified. According to a phylogenetic analysis, the genes were categorized into four subtypes:
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Mapping of Candidate Genes for Nitrogen Uptake and Utilization in Japonica Rice at Seedling Stage Genes (IF 3.5) Pub Date : 2024-03-02 Ning Chen, Tianze Ma, Sijia Xia, Chengxin Li, Yinuo Liu, Jiaqi Wang, Guize Qu, Hualong Liu, Hongliang Zheng, Luomiao Yang, Detang Zou, Jingguo Wang, Wei Xin
Nitrogen (N) is one of the essential nutrients for the growth and development of crops. The adequate application of N not only increases the yield of crops but also improves the quality of agricultural products, but the excessive application of N can cause many adverse effects on ecology and the environment. In this study, genome-wide association analysis (GWAS) was performed under low- and high-N
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Functional Roles and Genomic Impact of Miniature Inverted-Repeat Transposable Elements (MITEs) in Prokaryotes Genes (IF 3.5) Pub Date : 2024-03-03 Michael F. Minnick
Prokaryotic genomes are dynamic tapestries that are strongly influenced by mobile genetic elements (MGEs), including transposons (Tn’s), plasmids, and bacteriophages. Of these, miniature inverted-repeat transposable elements (MITEs) are undoubtedly the least studied MGEs in bacteria and archaea. This review explores the diversity and distribution of MITEs in prokaryotes and describes what is known
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Full-Length Transcriptome Sequencing and Comparative Transcriptomic Analyses Provide Comprehensive Insight into Molecular Mechanisms of Flavonoid Metabolites Biosynthesis in Styphnolobium japonicum Genes (IF 3.5) Pub Date : 2024-03-03 Miao Wu, Yu Zhang, Peng Guo, Huiyuan Liu, Linkui Xia, Mengyuan Wang, Chuqi Zeng, Hongwei Wang, Fude Shang
Styphnolobium japonicum L. is a commonly consumed plant in China, known for its medicinal and nutritional benefits. This study focuses on the medicinal properties influenced by flavonoid metabolites, which vary during flower development. Utilizing full-length transcriptome sequencing on S. japonicum flowers, we observed changes in gene expression levels as the flowers progressed through growth stages
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An Identification of Functional Genetic Variants in B4GALNT2 Gene and Their Association with Growth Traits in Goats Genes (IF 3.5) Pub Date : 2024-03-03 Liang Xu, Zitong Chen, Shuheng Chen, Yu Chen, Jiazhong Guo, Tao Zhong, Linjie Wang, Siyuan Zhan, Li Li, Hongping Zhang, Jiaxue Cao
β-1,4-N-acetylgalactosamine transferase 2 (B4GALNT2) is a vital candidate gene that affects the growth traits in sheep. However, whether it has the same function in goats remains to be investigated further. This study selected 348 Nanjiang Yellow goats, screened all exons, and conserved non-coding regions of the B4GALNT2 gene for single-nucleotide polymorphisms (SNPs). Our results revealed the presence
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Unmethylated Mosaic Full Mutation Males without Fragile X Syndrome Genes (IF 3.5) Pub Date : 2024-03-03 YeEun Tak, Andrea Schneider, Ellery Santos, Jamie Leah Randol, Flora Tassone, Paul Hagerman, Randi J. Hagerman
Fragile X syndrome (FXS) is the leading inherited cause of intellectual disability (ID) and single gene cause of autism. Although most patients with FXS and the full mutation (FM) have complete methylation of the fragile X messenger ribonucleoprotein 1 (FMR1) gene, some have mosaicism in methylation and/or CGG repeat size, and few have completely unmethylated FM alleles. Those with a complete lack
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E-Cigarette Exposure Alters Neuroinflammation Gene and Protein Expression in a Murine Model: Insights from Perinatally Exposed Offspring and Post-Birth Mothers Genes (IF 3.5) Pub Date : 2024-03-01 Christina Awada, Antonio F. Saporito, Judith T. Zelikoff, Catherine B. Klein
The use of E-cigarettes, often considered a safer alternative to traditional smoking, has been associated with high rates of cellular toxicity, genetic alterations, and inflammation. Neuroinflammatory impacts of cigarette smoking during pregnancy have been associated with increased risks of adverse childhood health outcomes; however, it is still relatively unknown if the same propensity is conferred
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Novel Ion Channel Genes in Malaria Parasites Genes (IF 3.5) Pub Date : 2024-02-26 Sanjay A. Desai
Ion channels serve many cellular functions including ion homeostasis, volume regulation, signaling, nutrient acquisition, and developmental progression. Although the complex life cycles of malaria parasites necessitate ion and solute flux across membranes, the whole-genome sequencing of the human pathogen Plasmodium falciparum revealed remarkably few orthologs of known ion channel genes. Contrasting
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Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors Genes (IF 3.5) Pub Date : 2024-02-29 Francesca Cillo, Emma Coppola, Federico Habetswallner, Francesco Cecere, Laura Pignata, Elisabetta Toriello, Antonio De Rosa, Laura Grilli, Antonio Ammendola, Paolo Salerno, Roberta Romano, Emilia Cirillo, Giuseppe Merla, Andrea Riccio, Claudio Pignata, Giuliana Giardino
Initially described as a triad of immunodeficiency, congenital heart defects and hypoparathyroidism, 22q11.2 deletion syndrome (22q11.2DS) now encompasses a great amount of abnormalities involving different systems. Approximately 85% of patients share a 3 Mb 22q11.2 region of hemizygous deletion in which 46 protein-coding genes are included. However, the hemizygosity of the genes of this region cannot
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The Influence of Genetic Polymorphic Variability of the Catechol-O-methyltransferase Gene in a Group of Patients with a Diagnosis of Behavioural Addiction, including Personality Traits Genes (IF 3.5) Pub Date : 2024-02-26 Remigiusz Recław, Krzysztof Chmielowiec, Aleksandra Suchanecka, Agnieszka Boroń, Jolanta Chmielowiec, Aleksandra Strońska-Pluta, Michał Tomasz Kowalski, Jolanta Masiak, Grzegorz Trybek, Anna Grzywacz
Gambling Disorder (GD) is characterised by a harmful, enduring, and recurrent involvement in betting-related behaviours. Therefore, GD shares similar biological mechanisms and symptoms to substance use disorders (SUD). Therefore, in this study, we chose the behavioural addictions group. During the examination and recruitment to the study, it turned out that all the people undergoing treatment for gambling
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The ENG/VEGFα Pathway Is Likely Affected by a Nonsense Variant of Endoglin (ENG)/CD105, Causing Hereditary Hemorrhagic Telangiectasia Type 1 (HHT1) in a Chinese Family Genes (IF 3.5) Pub Date : 2024-02-27 Kemeng Liu, Jiewen Fu, Kan Guo, Mazaher Maghsoudloo, Jingliang Cheng, Junjiang Fu
Hereditary hemorrhagic telangiectasia (HHT), also called Rendu–Osler syndrome, is a group of rare genetic diseases characterized by autosomal dominance, multisystemic vascular dysplasia, and age-related penetrance. This includes arteriovenous malformations (AVMs) in the skin, brain, lung, liver, and mucous membranes. The correlations between the phenotype and genotype for HHT are not clear. An HHT
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Developmental Changes in Genome Replication Progression in Pluripotent versus Differentiated Human Cells Genes (IF 3.5) Pub Date : 2024-02-27 Sunil Kumar Pradhan, Teresa Lozoya, Paulina Prorok, Yue Yuan, Anne Lehmkuhl, Peng Zhang, M. Cristina Cardoso
DNA replication is a fundamental process ensuring the maintenance of the genome each time cells divide. This is particularly relevant early in development when cells divide profusely, later giving rise to entire organs. Here, we analyze and compare the genome replication progression in human embryonic stem cells, induced pluripotent stem cells, and differentiated cells. Using single-cell microscopic
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Mapping and Detection of Genes Related to Trichome Development in Black Gram (Vigna mungo (L.) Hepper) Genes (IF 3.5) Pub Date : 2024-02-27 Dan Gong, Jianling Li, Suhua Wang, Aihua Sha, Lixia Wang
Black gram (Vigna mungo (L.) Hepper) is a pulses crop with good digestible protein and a high carbohydrate content, so it is widely consumed as human food and animal feed. Trichomes are large, specialized epidermal cells that confer advantages on plants under biotic and abiotic stresses. Genes regulating the development of trichomes are well characterized in Arabidopsis and tomato. However, little
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Identification and Analysis of Axolotl Homologs for Proteins Implicated in Human Neurodegenerative Proteinopathies Genes (IF 3.5) Pub Date : 2024-02-28 Lucas M. James, Zachary Strickland, Noah Lopez, Jessica L. Whited, Malcolm Maden, Jada Lewis
Neurodegenerative proteinopathies such as Alzheimer’s Disease are characterized by abnormal protein aggregation and neurodegeneration. Neuroresilience or regenerative strategies to prevent neurodegeneration, preserve function, or restore lost neurons may have the potential to combat human proteinopathies; however, the adult human brain possesses a limited capacity to replace lost neurons. In contrast
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Clinical and Genetic Aspects of Juvenile Amyotrophic Lateral Sclerosis: A Promising Era Emerges Genes (IF 3.5) Pub Date : 2024-02-28 Paulo Victor Sgobbi de Souza, Paulo de Lima Serrano, Igor Braga Farias, Roberta Ismael Lacerda Machado, Bruno de Mattos Lombardi Badia, Hélvia Bertoldo de Oliveira, Alana Strucker Barbosa, Camila Alves Pereira, Vanessa de Freitas Moreira, Marco Antônio Troccoli Chieia, Adriel Rêgo Barbosa, Vinícius Lopes Braga, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira
Juvenile Amyotrophic Lateral Sclerosis is a genetically heterogeneous neurodegenerative disorder, which is frequently misdiagnosed due to low clinical suspicion and little knowledge about disease characteristics. More than 20 different genetic loci have been associated with both sporadic and familial juvenile Amyotrophic Lateral Sclerosis. Currently, almost 40% of cases have an identifiable monogenic
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Novel Pathogenic Variants Leading to Sporadic Amyotrophic Lateral Sclerosis in Greek Patients Genes (IF 3.5) Pub Date : 2024-02-28 Ouliana Ivantsik, Anne John, Kyriaki Kydonopoulou, Konstantinos Mitropoulos, Spyridon Gerou, Bassam R. Ali, George P. Patrinos
Amyotrophic lateral sclerosis (ALS) is a rapidly progressive disease that affects motor neurons, leading to paralysis and death usually 3–5 years after the onset of symptoms. The investigation of both sporadic and familial ALS highlighted four main genes that contribute to the pathogenesis of the disease: SOD1, FUS, TARDBP and C9orf72. This study aims to provide a comprehensive investigation of genetic
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Gene Expression Analysis for Uterine Cervix and Corpus Cancer Characterization Genes (IF 3.5) Pub Date : 2024-02-28 Lucía Almorox, Laura Antequera, Ignacio Rojas, Luis Javier Herrera, Francisco M. Ortuño
The analysis of gene expression quantification data is a powerful and widely used approach in cancer research. This work provides new insights into the transcriptomic changes that occur in healthy uterine tissue compared to those in cancerous tissues and explores the differences associated with uterine cancer localizations and histological subtypes. To achieve this, RNA-Seq data from the TCGA database
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Multiplex Real-Time PCR-Based Newborn Screening for Severe Primary Immunodeficiency and Spinal Muscular Atrophy in Osaka, Japan: Our Results after 3 Years Genes (IF 3.5) Pub Date : 2024-02-28 Tomokazu Kimizu, Masatoshi Nozaki, Yousuke Okada, Akihisa Sawada, Misaki Morisaki, Hiroshi Fujita, Akemi Irie, Keiko Matsuda, Yuiko Hasegawa, Eriko Nishi, Nobuhiko Okamoto, Masanobu Kawai, Kohsuke Imai, Yasuhiro Suzuki, Kazuko Wada, Nobuaki Mitsuda, Shinobu Ida
In newborn screening (NBS), it is important to consider the availability of multiplex assays or other tests that can be integrated into existing systems when attempting to implement NBS for new target diseases. Recent developments in innovative testing technology have made it possible to simultaneously screen for severe primary immunodeficiency (PID) and spinal muscular atrophy (SMA) using quantitative