Genes, Vol. 15, Pages 473: Factors Influencing Mortality in Children with Central Nervous System Tumors: A Cohort Study on Clinical Characteristics and Genetic Markers
This study investigated the clinical characteristics and single nucleotide variant (SNV) in ABCB1, ABCC1, ABCC2, ABCC4, and ABCG2, and their association with mortality in pediatric patients with central nervous system tumors (CNST). Using TaqMan probes, a real-time polymerase chain reaction genotyped 15 SNPs in 111 samples. Patients were followed up until death or the last follow-up day using the Cox proportional hazards model. An association was found between the rs1045642 (ABCB1) in the recessive model (HR = 2.433, 95% CI 1.098–5.392, p = 0.029), and the ICE scheme in the codominant model (HR = 9.810, 95% C...
Source: Genes - April 9, 2024 Category: Genetics & Stem Cells Authors: Luz Mar ía Torres-Espíndola Juan Carlos P érez-De Marcos Manuel Castillejos-L ópez Liliana Velasco-Hidalgo Roc ío Cárdenas-Cardós Armando De U ña-Flores Citlaltepetl Salinas-Lara Silvia Caballero-Salazar Rosario Fern ández-Plata Arnoldo Aqu íno- Tags: Article Source Type: research
Genes, Vol. 15, Pages 469: Genetic Modifiers of Sickle Cell Anemia Phenotype in a Cohort of Angolan Children
Miguel Brito
The aim of this study was to identify genetic markers in the HBB Cluster; HBS1L-MYB intergenic region; and BCL11A, KLF1, FOX3, and ZBTB7A genes associated with the heterogeneous phenotypes of Sickle Cell Anemia (SCA) using next-generation sequencing, as well as to assess their influence and prevalence in an Angolan population. Hematological, biochemical, and clinical data were considered to determine patients’ severity phenotypes. Samples from 192 patients were sequenced, and 5,019,378 variants of high quality were registered. A catalog of candidate modifier genes that clustered in pathophy...
Source: Genes - April 8, 2024 Category: Genetics & Stem Cells Authors: Catarina Ginete Mariana Delgadinho Br ígida Santos Armandina Miranda Carina Silva Paulo Guerreiro Emile R. Chimusa Miguel Brito Tags: Article Source Type: research
Genes, Vol. 15, Pages 470: Detection of Macrolide and/or Fluoroquinolone Resistance Genes in Mycoplasma genitalium Strains Isolated from Men in the Northwest Region of Croatia in 2018 & ndash;2023
Genes, Vol. 15, Pages 470: Detection of Macrolide and/or Fluoroquinolone Resistance Genes in Mycoplasma genitalium Strains Isolated from Men in the Northwest Region of Croatia in 2018–2023
Genes doi: 10.3390/genes15040470
Authors:
Sunčanica Ljubin-Sternak
Tomislav Meštrović
Tatjana Marijan
Maja Anušić
Sandra Šuto
Jasmina Vraneš
Mycoplasma genitalium (M. genitalium) poses a significant public health challenge due to its association with non-gonococcal urethritis (particularly in men) and antimicrobial resistance. However, despite the prevalence of M. genitalium infections and the rise in r...
Source: Genes - April 8, 2024 Category: Genetics & Stem Cells Authors: Sun čanica Ljubin-Sternak Tomislav Me štrović Tatjana Marijan Maja Anu šić Sandra Šuto Jasmina Vrane š Tags: Article Source Type: research
Genes, Vol. 15, Pages 471: A Unifying Hypothesis for the Genome Dynamics Proposed to Underlie Neuropsychiatric Phenotypes
e
The sheer number of gene variants and the extent of the observed clinical and molecular heterogeneity recorded in neuropsychiatric disorders (NPDs) could be due to the magnified downstream effects initiated by a smaller group of genomic higher-order alterations in response to endogenous or environmental stress. Chromosomal common fragile sites (CFS) are functionally linked with microRNAs, gene copy number variants (CNVs), sub-microscopic deletions and duplications of DNA, rare single-nucleotide variants (SNVs/SNPs), and small insertions/deletions (indels), as well as chromosomal translocations, gene duplications, alt...
Source: Genes - April 8, 2024 Category: Genetics & Stem Cells Authors: George Sebastian Gericke Tags: Review Source Type: research
Genes, Vol. 15, Pages 466: The Genome of Bifidobacterium longum subsp. infantis YLGB-1496 Provides Insights into Its Carbohydrate Utilization and Genetic Stability
This study used genome sequencing and morphology during continuous subculture to determine the carbohydrate utilization characteristics and genetic stability of YLGB-1496. The complete genome sequence of YLGB-1496 consists of 2,758,242 base pairs, 2442 coding sequences, and a GC content of 59.87%. A comparison of carbohydrate transport and metabolism genes of Bifidobacterium longum subsp. infantis (B. infantis) showed that YLGB-1496 was rich in glycosyl hydrolase 13, 20, 25, and 109 gene families. During continuous subculture, the growth characteristics and fermentation activity of the strain were highly stable. The bacter...
Source: Genes - April 8, 2024 Category: Genetics & Stem Cells Authors: Xiaoxia Li Jianjun Yang Shaoqi Shi Hanglian Lan Wen Zhao Weilian Hung Jian He Ran Wang Tags: Article Source Type: research
Genes, Vol. 15, Pages 467: Redirect Tropism of Fowl Adenovirus 4 Vector by Modifying Fiber2 with Variable Domain of Heavy-Chain Antibody
Zhuozhuang Lu
The variable domain of a heavy-chain antibody (VHH) has the potential to be used to redirect the cell tropism of adenoviral vectors. Here, we attempted to establish platforms to simplify the screening of VHHs for their specific targeting function when being incorporated into the fiber of adenovirus. Both fowl adenovirus 4 (FAdV-4) and simian adenovirus 1 (SAdV-1) have two types of fiber, one of which is dispensable for virus propagation and is a proper site for VHH display. An intermediate plasmid, pMD-FAV4Fs, was constructed as the start plasmid for FAdV-4 fiber2 modification. Foldon from phage T4 fibrit...
Source: Genes - April 8, 2024 Category: Genetics & Stem Cells Authors: Yongjin Wang Xiaohui Zou Xiaojuan Guo Zhichao Zhang Min Wang Tao Hung Zhuozhuang Lu Tags: Article Source Type: research
Genes, Vol. 15, Pages 468: Review of Personalized Medicine and Pharmacogenomics of Anti-Cancer Compounds and Natural Products
hong Wang
In recent years, the FDA has approved numerous anti-cancer drugs that are mutation-based for clinical use. These drugs have improved the precision of treatment and reduced adverse effects and side effects. Personalized therapy is a prominent and hot topic of current medicine and also represents the future direction of development. With the continuous advancements in gene sequencing and high-throughput screening, research and development strategies for personalized clinical drugs have developed rapidly. This review elaborates the recent personalized treatment strategies, which include artificial intelligence, ...
Source: Genes - April 8, 2024 Category: Genetics & Stem Cells Authors: Yalan Zhou Siqi Peng Huizhen Wang Xinyin Cai Qingzhong Wang Tags: Review Source Type: research
Genes, Vol. 15, Pages 465: Transcriptomic Changes and Regulatory Networks Associated with Resistance to Mastitis in Xinjiang Brown Cattle
In this study, the blood levels of IL-1β, IL-6, IL-10, TNF-α, and TGF-β in Xinjiang brown cattle with high and low somatic cell counts (SCCs) were investigated, showing that cytokine levels were higher in cattle with high SCCs. The peripheral blood transcriptomic profiles of healthy and mastitis-affected cattle were constructed by RNA-seq. Differential expression analysis identified 1632 differentially expressed mRNAs (DE-mRNAs), 1757 differentially expressed lncRNAs (DE-lncRNAs), and 23 differentially expressed circRNAs (DE-circRNAs), which were found to be enriched in key pathways ...
Source: Genes - April 7, 2024 Category: Genetics & Stem Cells Authors: Dan Wang Haiyan Yang Shengchao Ma Tingting Liu Mengjie Yan Mingming Dong Menghua Zhang Tao Zhang Xiaoxue Zhang Lei Xu Xixia Huang Hong Chen Tags: Article Source Type: research
Genes, Vol. 15, Pages 463: Therapeutic Management and Outcomes of Hepatoblastoma in a Pediatric Patient with Mosaic Edwards Syndrome
andowska
The mosaic form of Edwards syndrome affects 5% of all children with Edwards syndrome. The clinical phenotype is highly variable, ranging from the full spectrum of trisomy 18 to the normal phenotype. The purpose of this publication was to present the therapeutic process in an 18-month-old girl with the mosaic form of Edwards syndrome and hepatoblastoma, against the background of other cases of simultaneous occurrence of this syndrome and hepatoblastoma described so far. It appears that this particular group of patients with hepatoblastoma and Edwards syndrome can have good outcomes, provided they do not have li...
Source: Genes - April 7, 2024 Category: Genetics & Stem Cells Authors: Patrycja Sosnowska-Sienkiewicz Alicja Kami ńska Iwona Anderko Gabriela Telman-Ko łodziejczyk Przemys ław Mańkowski Danuta Januszkiewicz-Lewandowska Tags: Case Report Source Type: research
Genes, Vol. 15, Pages 464: Different Nuclear Architecture in Human Sperm According to Their Morphology
Alexandre Rouen
Human sperm parameters serve as a first step in diagnosing male infertility, but not in determining the potential for successful pregnancy during assisted reproductive technologies (ARTs) procedures. Here, we investigated the relationship between sperm head morphology at high magnification, based on strict morphologic criteria, and the nuclear architecture analyzed by fluorescence in situ hybridization (FISH). We included five men. Two of them had an elevated high-magnification morphology score of 6 points (Score 6) indicating high fertility potential, whereas three had a low score of 0 points (Score 0...
Source: Genes - April 7, 2024 Category: Genetics & Stem Cells Authors: Nino-Guy Cassuto Nesrine Ogal Said Assou Lea Ruoso Eli-Jonathan Rogers Miguel-Jos é Monteiro Daniel Thomas Jean-Pierre Siffroi Alexandre Rouen Tags: Brief Report Source Type: research
Genes, Vol. 15, Pages 460: Allele-Specific Regulation of the Candidate Autism Liability Gene RAI1 by the Enhancer Variant rs4925102 (C/G)
In this study, we provide experimental evidence based on reporter gene, chromatin immunoprecipitation (ChIP), and chromatin conformation capture (3C) assays that rs4925102 regulates RAI1 mRNA expression in an allele-specific manner in human cell lines, including the neuroblastoma-derived cell line SH-SY5Y. We also describe a statistically significant association between rs4925102 genotype and autism spectrum disorder (ASD) diagnosis in a case-control study and near-statistically significant association in an Autism Genome Project (AGP) transmission disequilibrium (TDT) study using Caucasian subjects. (Source: Genes)
Source: Genes - April 6, 2024 Category: Genetics & Stem Cells Authors: Xi Yuan Li Chen David Saffen Tags: Article Source Type: research
Genes, Vol. 15, Pages 461: Clinical and Molecular Characterization of a Novel Homozygous Frameshift Variant in AEBP1-Related Classical-like Ehlers Danlos Syndrome Type 2 with Comparison to Previously Reported Rare Cases
We described the 15th patient (13th family) diagnosed with clEDS2. This patient presented with notable similarities in phenotype to the documented cases, along with additional characteristics such as significant prematurity and short stature. An EDS sequencing panel-based analysis revealed homozygous AEBP1: NM_001129.5:c.2923del, p.Ala975Profs*22 likely pathogenic variants, and maternally inherited heterozygous COL11A1: NM_001854.4:c.1160A>G, p.Lys387Arg variant of uncertain significance in our patient. Upon comprehensive review of all previously reported clEDS2 patients, our patient exhibited the following over...
Source: Genes - April 6, 2024 Category: Genetics & Stem Cells Authors: Zong Yi Ha Chieko Chijiwa Suzanne Lewis Tags: Case Report Source Type: research
Genes, Vol. 15, Pages 462: Impact of 12-SNP and 6-SNP Polygenic Scores on Predisposition to High LDL-Cholesterol Levels in Patients with Familial Hypercholesterolemia
Conclusions: The 12-SNP and 6-SNP polygenic scores could explain hypercholesterolemia in patients without pathogenic variants as well as the variability of LDL-c levels among patients with FH-causative variants. (Source: Genes)
Source: Genes - April 6, 2024 Category: Genetics & Stem Cells Authors: Giovanna Cardiero Martina Ferrandino Ilenia Lorenza Calcaterra Gabriella Iannuzzo Matteo Nicola Dario Di Minno Raffaele Buganza Ornella Guardamagna Renata Auricchio Maria Donata Di Taranto Giuliana Fortunato Tags: Article Source Type: research
Genes, Vol. 15, Pages 458: Characteristics of the Genetic Spread of Carbapenem-Resistant Acinetobacter baumannii in a Tertiary Greek Hospital
This study aimed to analyze the molecular epidemiology trends of multidrug-resistant A. baumannii isolates in a tertiary hospital in Athens, Greece. A total of 43 clinical isolates of extensively drug-resistant (XDRAB), pan-drug-resistant (PDRAB), and CRAB were collected from patients suffering from blood infection, hospitalized between 2016 and 2020 at the internal medicine clinics and the ICU. A.baumannii isolates underwent testing for Ambler class B and D carbapenemases and the detection of ISAba1, and were typed, initially, using pulsed-field gel electrophoresis, and, subsequently, using sequence-based typing and multi...
Source: Genes - April 5, 2024 Category: Genetics & Stem Cells Authors: Martha Papadopoulou Ioannis Deliolanis Michalis Polemis Alkiviadis Vatopoulos Mina Psichogiou Panagiota Giakkoupi Tags: Article Source Type: research
Genes, Vol. 15, Pages 459: Transcriptomic Analysis of Alternative Splicing Events during Different Fruit Ripening Stages of Coffea arabica L.
ang Dong
Faguang Hu
To date, genomic and transcriptomic data on Coffea arabica L. in public databases are very limited, and there has been no comprehensive integrated investigation conducted on alternative splicing (AS). Previously, we have constructed and sequenced eighteen RNA-seq libraries of C. arabica at different ripening stages of fruit development. From this dataset, a total of 3824, 2445, 2564, 2990, and 3162 DSGs were identified in a comparison of different fruit ripening stages. The largest proportion of DSGs, approximately 65%, were of the skipped exon (SE) type. Biologically, 9 and 29 differentially expr...
Source: Genes - April 5, 2024 Category: Genetics & Stem Cells Authors: Haohao Yu Xiaofei Bi Zhongxian Li Xingfei Fu Yanan Li Yaqi Li Yang Yang Dexin Liu Guiping Li Wenjiang Dong Faguang Hu Tags: Article Source Type: research