General immunologic reactivity of patients with COVID-19 and its relation to gene polymorphism, severity of clinical course of the disease and combination with comorbidities by M.O. Sokolenko, L.P. Sydorchuk, L.S. Sokolenko, A.A. Sokolenko

“…The overall immunological reactivity of the body of patients with coronavirus infection increases in the presence of the wild-type T-allele of the eNOS gene (rs2070744) in the patient's genotype, especially the CC genotype, by 21.98-57.89% (p≤0.029-0.001), against the background of a decrease in the index of nonspecific reactivity and the ratio of agranulocytes to ESR – by 23.0 (p=0.039) and 15.74% (p=0.044), indicating the onset of specific immunological reactions in the active infectious process. Carriers of the mutational A-allele of the FGB gene (rs1800790) and the TT genotype of the TMPRSS2 gene (rs12329760) showed higher immune reactivity and resistance, which was significantly confirmed by the level of increase in immune reactivity by 6.31-17.21% (p=0.007) and 22.05-35.78% (p≤0.06-0.004), respectively, against the background of a slightly higher rate of allergy (especially in owners of the AG genotype of the FGB gene – by 68.18%, PAG=0.017), a higher ratio of agranulocytes and ESR – by 18.30-21.84% (p≤0.008-0.007) and 19.46-31.07% (p=0.023), with a higher ratio of lymphocytes and eosinophils – by 13.35-19.20% (p≤0.002-0.001). …”
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Cardiac manifestations of Fabry disease in G3Stg/GlaKO and GlaKO mouse models-Translation to Fabry disease patients. by Abirami Kugadas, Pietro Artoni, Wanida Ruangsiriluk, Meng Zhao, Natalia Boukharov, Rizwana Islam, Dmitri Volfson, Katayoun Derakhchan

“…Fabry disease (FD) is an X-linked disorder of glycosphingolipid metabolism caused by mutations in the GLA gene encoding alpha-galactosidase A (α-Gal). …”
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In silico analysis of the effect of HCV genotype-specific polymorphisms in Core, NS3, NS5A, and NS5B proteins on T-cell epitope processing and presentation by Samina Baig, Samina Baig, Assel Berikkara, Ramsha Khalid, Syed A. Subhan, Tanveer Abbas, Syed Hani Abidi

“…Although previous studies have shown the immune escape potential of several mutations within the HCV proteins, little is known about the effect of genotype/subtype-specific gene polymorphism on T-cell immunity. …”
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Potential pathogenic and protective genotypes and phenotypes of vitamin D binding protein in multiple sclerosis by Suhail Al-Shammri, Suhail Al-Shammri, Arpita Chattopadhyay, Abu Salim Mustafa

“…DNA regions covering the targeted mutations were amplified by PCR, sequenced by the Sanger method, and analyzed to determine GC genotypes and phenotypes. …”
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The Neosartorya (Aspergillus) fischeri antifungal protein NFAP2 has low potential to trigger resistance development in Candida albicans in vitro by Gábor Bende, Nóra Zsindely, Krisztián Laczi, Zsolt Kristóffy, Csaba Papp, Attila Farkas, Liliána Tóth, Szabolcs Sáringer, László Bodai, Gábor Rákhely, Florentine Marx, László Galgóczy

“…Genome analysis revealed non-silent mutations in only two genes in NFAP2-tolerant strains and in several genes in FLC-resistant strains. …”
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Understanding phage BX-1 resistance in Vibrio alginolyticus AP-1 and the role of quorum-sensing regulation by Xiaoyu Li, Xin Liu, Tianyi Ma, Haochen Su, Bingrui Sui, Lili Wang, Bilal Murtaza, Yongping Xu, Na Li, Demeng Tan

“…Bacteria have developed various defense mechanisms against phages, such as mutations in phage receptors. In this study, we demonstrate that the bacterial cellulose biosynthesis-related gene bcsE plays a crucial role in determining susceptibility to phage BX-1, while quorum-sensing (QS) systems significantly influence collective phage-related behaviors. …”
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Genetic Variation Analysis of Hsp101 Gene in Common Wild Rice and Asian Cultivated Rice Germplasm Resources by Yue LIU, Liqun JIANG, Shuwei LYU, Bingrui SUN, Chen LI, Qing LIU, Hang YU

“…【Results】A total of 471 genetic mutations were identified in the region of the Hsp101 gene, among which 94 non-synonymous variation sites resulted in amino acid coding changes. …”
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Association study of the JAK/STAT signaling pathway with susceptibility to COVID-19 in moroccan patient and in-silico analysis of rare variants by Meriem El Houdi, Hanaa Skhoun, Meriem El Fessikh, Reda Benmansour, Fatima-Zahra El Yousfi, Chaimae Nebhani, Mohamed Rida Tagajdid, Idriss Lahlou Amine, Hicham El Annaz, Rabii Ameziane El Hassani, Zohra Ouzzif, Redouane Abouqal, Khalid Ennibi, Ahmed Bouhouche, Jamila El Baghdadi

“…Notably, IFNAR1 p.Val168Leu mutated C allele was significantly associated with reduced susceptibility to COVID-19 severity (p=0.028, OR=0.5936 [0.3725 – 0.9461]), under the additive model (p=0.045, OR=0.626 [0.3958 – 0.9899]).Rare variants IFNAR1 p.Trp318Cys, p.Ser476Phe, and IFNAR2 p.Cys271Tyr were predicted deleterious, impacting protein structure via hydrogen bond and hydrophobic interaction alterations. …”
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Disulfidptosis-related gene signatures as prognostic biomarkers and predictors of immunotherapy response in HNSCC by Haotian Qin, Haotian Qin, Juan Xu, Yaohang Yue, Yaohang Yue, Meiling Chen, Zheng Zhang, Panpan Xu, Yan Zheng, Hui Zeng, Jian Weng, Jian Weng, Jun Yang, Fei Yu

“…Various analyses are conducted, including the relationship between the risk scores model and clinicopathological features, immune status, immune checkpoints, tumor mutational burden (TMB), microsatellite instability (MSI), ESTIMATE, mRNAsi, and drug sensitivity. …”
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Systematic review of multidrug-resistant Klebsiella pneumoniae in the Arabian Peninsula: molecular epidemiology and resistance patterns by Enaam K. Idrees, Enaam K. Idrees, Marwh G. Aldriwesh, Marwh G. Aldriwesh, Marwh G. Aldriwesh, Manal M. Alkhulaifi, Majed F. Alghoribi, Majed F. Alghoribi, Majed F. Alghoribi

“…Additionally, colistin resistance through the mcr-1 gene and mgrB mutations was reported in Saudi Arabia and the UAE, posing a significant public health challenge.ConclusionData from GHC countries shows significant gaps, particularly in community and environmental and molecular epidemiology studies. …”
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Neuronal cell type specific roles for Nprl2 in neurodevelopmental disorder-relevant behaviors by Brianne Dentel, Lidiette Angeles-Perez, Abigail Y. Flores, Katherine Lei, Chongyu Ren, Andrea Pineda Sanchez, Peter T. Tsai

“…Given the clinical phenotypes observed in patients with Nprl2 mutations, in this study, we sought to investigate the neuronal cell type contributions of Nprl2 to NDD behaviors. …”
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Comprehensive genomic surveillance reveals transmission profiles of extensively drug-resistant tuberculosis cases in Pará, Brazil by Davi Josué Marcon, Davi Josué Marcon, Abhinav Sharma, Alex Brito Souza, Alex Brito Souza, Rafaella Bonfim Barros, Valnete das Graças Dantas Andrade, Ricardo José de Paula Souza Guimarães, Luana Nepomuceno Gondim Lima, Luana Nepomuceno Gondim Lima, Lúcia Helena Martins Tavares Monteiro, Ana Judith Pires Garcia Quaresma, Ana Judith Pires Garcia Quaresma, Layana Rufino Ribeiro, Layana Rufino Ribeiro, Philip Noel Suffys, Robin Mark Warren, Carlos Augusto Abreu Alberio, Karla Valéria Batista Lima, Karla Valéria Batista Lima, Emilyn Costa Conceição

“…Whole-genome sequencing (WGS) was obtained using Illumina Nextera-XT and NextSeq 550 and genomes were analyzed using the MAGMA and TB-Profiler pipelines interpreted according to the World Health Organization (WHO) mutations catalog 2nd edition. Geoprocessing was performed based on the patient’s residences. …”
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Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease by Elisa Rubino, Maria Italia, Elisa Giorgio, Silvia Boschi, Paola Dimartino, Tommaso Pippucci, Fausto Roveta, Clara Maria Cambria, Gabriella Elia, Andrea Marcinnò, Salvatore Gallone, Ekaterina Rogaeva, Flavia Antonucci, Alfredo Brusco, Fabrizio Gardoni, Innocenzo Rainero

“…Genomic DNA from family members was extracted and initially screened for pathogenic mutations in APP, PSEN1, and PSEN2, and screened for 77 genes associated with neurodegenerative conditions using NeuroX array assay. …”
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Defective Slc7a7 transport reduces erythropoietin compromising erythropoiesis by Judith Giroud-Gerbetant, Fernando Sotillo, Gonzalo Hernández, Irene Ruano, David Sebastián, Joana Fort, Mayka Sánchez, Günter Weiss, Neus Prats, Antonio Zorzano, Manuel Palacín, Susanna Bodoy

“…Abstract Background Lysinuric protein intolerance is a rare autosomal disorder caused by mutations in the Slc7a7 gene that lead to impaired transport of neutral and basic amino acids. …”
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Vaccarin suppresses diabetic nephropathy through <?A3B2 pi6?>inhibiting the EGFR/ERK1/2 signaling pathway by Zhu Xuexue, Meng Xinyu, Du Xinyao, Zhao Chenyang, Ma Xinyu, Wen Yuanyuan, Zhang Shijie, Hou Bao, Cai Weiwei, Du Bin, Han Zhijun, Xu Fei, Qiu Liying, Sun Haijian

“…Network pharmacology analysis and molecular docking identify epidermal growth factor receptor (EGFR) as a potential target for VAC. Amino acid site mutations reveal that Lys-879, Ile-918, and Ala-920 of EGFR may mediate the direct binding of VAC to EGFR. …”
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Retinoblastoma. Part 1. Clinical presentations and diagnostic tools by S.V. Ivanova, S.A. Kuleva, N.N. Sadovnikova, M.I. Komissarov, M.N. Chistyakova, A.V. Khokhlova, N.A. Shchegoleva

“…The association between tumor development and the loss of both alleles of RB1 gene is well-established. Mutations in the RB1 gene result in the complete inactivation of retinoblastoma protein expression and, therefore, uncontrolled cell proliferation and generation of tumor cell clone. …”
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Clinical characteristics and outcomes of surgical resection for brain metastases from lung adenocarcinoma by Ming Li, Zhiying Li, Hang Zhang, Hiroaki Wakimoto, Linlin Sun, Tiantian Wang, Shengli Zhou, Liyun Zhou

“…Genetically, 43.3% patients (90 cases) had EGFR mutations, and immunohistochemical analysis showed that most patients were PD-L1 positive (160, 76.9%) and Ki67 &gt; 30% (137, 65.9%). …”
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Completely conserved VP2 residue K140 of KREMEN1-dependent enteroviruses is critical for virus-receptor interactions and viral infection by Zeyu Liu, Xue Li, Xiaohong Li, Xingyu Yan, Yuan Tian, Yue Zhao, Kexin Liu, Pei Hao, Shuye Zhang, Chao Zhang

“…Notably, residue K2140 is completely conserved in all strains of the KRM1-dependent enteroviruses. Mutational analysis confirms the importance of K2140 for infection by CVA2–CVA6, and CVA12. …”
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Evolution of human genes encoding cell surface receptors involved in the regulation of appetite: an analysis based on the phylostratigraphic age and divergence indexes by E. V. Ignatieva, S. A. Lashin, Z. S. Mustafin, N. A. Kolchanov

“…It is also very important to identify relationships between the evolutionary characteristics of genes in gene networks and the resistance of these networks to changes caused by mutations. The aim of the current study is to identify the distinctive features of human genes encoding cell surface receptors involved in appetite regulation using the phylostratigraphic age index (PAI) and divergence index (DI). …”
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Neuropsychiatric profile in tuberous sclerosis complex patients with epilepsy by Mahmoud Fawzi Osman, Mahmoud Fawzi Osman, Faisal Hadid, Tawfeg ben Omran, Tawfeg ben Omran, Tawfeg ben Omran, Munira Aden, Fatima Al-Maadid, Sondos Altaraqji, Khalid Mohamed, Ruba Benini, Ruba Benini

“…BackgroundTuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by mutations in the TSC1 or TSC2 genes, leading to dysregulation of the mTOR pathway and multisystemic manifestations. …”
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