Novel Polymorphism in a Promoter of MBL2 Gene Result in Lower MBL Expression in Chronic Infection Caused by HCV by Paywast Jamal Jalal

“…Interestingly, a new deletion of six nucleotides [AGGAAG] detected in the promoter at position -319 to -324 that succeeded by four other mutations at position -328, -336, -349 and -427 in most of the analyzed sequences. …”
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Geometric Simulation Approach for Grading and Assessing the Thermostability of CALBs by B. Senthilkumar, D. Meshachpaul, R. Rajasekaran

“…Additionally, it can also be used as a template to identify efficient thermostable lipases through further mutations.…”
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Pan-Cancer Analysis of the Cuproptosis-Related Gene DLD by Jiahui Lin, Guowei Wang, Sha Cheng, Yanan Hu, Huan Li, Wanjiang Feng, Xiaoming Liu, Canxia Xu

“…The relationship of DLD with immune microenvironment immunomodulators, immune checkpoints, tumor mutational load (TMB), microsatellite instability (MSI), and oncology drug sensitivity was explored by correlation analysis. …”
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Inflammatory Bowel Disease: Progress Towards a Gene by David A van Heel, Jack Satsangi, Alisoun H Carey, Derek P Jewell

“…Animal studies have provided insights from targeted mutations and quantitative trait locus analysis. The goals of continuing research include narrowing the regions of linkages and analysis of candidate genes, and possibly the application of newly developed methods using single nucleotide polymorphisms. …”
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TLR-8, TNF-α, and ESR-1α Gene Polymorphism Susceptibility in Onset of Arthritis by Maryam Mukhtar, Nadeem Sheikh, Andleeb Batool, Tayyaba Saleem, Muhammad Babar Khawar, Mavra Irfan, Saira Kainat Suqaina

“…Allelic and genetic frequencies of polymorphisms identified on rs3764879 (TLR-8), rs3764880 (TLR-8), rs5744080 (TLR-8), rs1800629 (TNF), rs2228480 (ESR-1α), and rs1451501590 (ESR-1α) were significantly varied among RA, OA, and controls. Novel functional mutations SCV000844945 and SCV000844946 on TLR-8 as well as a non-functional SCV000804801 and functional variation SCV000804802 on ESR-1α were also identified and reported for the first time in the studied population. …”
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In Silico Study of Alkaloids: Neferine and Berbamine Potentially Inhibit the SARS-CoV-2 RNA-Dependent RNA Polymerase by Rishab Marahatha, Asmita Shrestha, Kabita Sharma, Bishnu P. Regmi, Khaga Raj Sharma, Pramod Poudel, Ram Chandra Basnyat, Niranjan Parajuli

“…While there have been some vaccines and drugs, the rapid emergence of variants due to mutations has threatened public health. As the de novo drug development process is expensive and time-consuming, repurposing existing antiviral drugs against SARS-CoV-2 is an alternative and promising approach to mitigate the current situation. …”
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RETRACTED ARTICLE: Conceptualising a channel-based overlapping CNN tower architecture for COVID-19 identification from CT-scan images by Ravi Shekhar Tiwari, Lakshmi D, Tapan Kumar Das, Kathiravan Srinivasan, Chuan-Yu Chang

“…However, SARS COVID-19 has been mutated, and we have many versions of the virus B.1.1.7, B.1.135, and P.1, hence there is a need for a more robust architecture that will classify the COVID positive patients from COVID negative patients with less training. …”
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Colonic Adenocarcinoma with Plasmacytoid Feature: Histopathology and Molecular Characteristics of a Rare Neoplasm with an Unusual Presentation by Noor Marji, Jasrerman Dhillon, Gregory Y. Lauwers, Sebastian Feuerlein, Reza Nikfar, Monica Chatwal, Aram Vosoughi

“…Molecular studies identified BRAF V600E, SMAD4, and p53 mutations associated with aggressive colorectal adenocarcinoma with mucinous/signet ring cell features. …”
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Diversity of VIr’s collection of <i>Lupinus angustifolius</i> L. in the inf lorescence color by E. V. Vlasova, G. P. Egorova

“…Descriptions of some biotypes failed to agree with the data on any known gene’s phenotypic expression, which attested to the presence of new mutations, recombinations, or unstudied gene associations.…”
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New Insights in Genetic Cholestasis: From Molecular Mechanisms to Clinical Implications by Eva Sticova, Milan Jirsa, Joanna Pawłowska

“…Thus far, five representatives of PFIC (named PFIC1-5) caused by pathogenic mutations present in both alleles of ATP8B1, ABCB11, ABCB4, TJP2, and NR1H4 have been described. …”
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Targeted Regulation Of Cgrp Gene Expression by A. F. Russo, P. L. Durham

“…This observation supports the importance of a finely tuned balance of calcium in the trigeminal neuron, which is intriguing in light of genetic evidence for calcium channel mutations in a rare form of inherited migraine. These studies suggest that modulation of MAP kinase control of the cell-specific CGRP gene enhancer may be a useful therapeutic strategy for neurovascular disorders.…”
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Functional Stability of Plasminogen Activator Inhibitor-1 by Songul Yasar Yildiz, Pinar Kuru, Ebru Toksoy Oner, Mehmet Agirbasli

“…Environmental conditions, interaction with other proteins, mutations, and glycosylation are the main factors that have a significant impact on the stability of the PAI-1 structure. …”
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Spondylocostal Dysplasia in a 7-Year-Old Sri Lankan Girl Causing Restrictive Lung Disease: A Case Report and Review of the Literature by Phirarthana Kamalanathan, Meranthi Fernando, Rohan Jayawardena, A. Upasena, Shaman Rajindrajith, Sachith Mettananda

“…It is a recessively inherited disorder, and commonly identified disease-causing mutations are in DLL3 gene. The reported prevalence is 1 : 200,000 worldwide, and none was reported from Sri Lanka. …”
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Anti-Factor H Antibodies in Egyptian Children with Hemolytic Uremic Syndrome by Shereen Shawky, Hesham Safouh, Mona Gamal, Mohammed M. Abbas, Azza Aboul-Enein, Toshihiro Sawai, Yosra Fahmy, Heba Selim

“…It is primarily caused by dysregulation of the complement alternative pathway due to genetic mutations, mainly in complement factor H genes, or due to anti-factor H autoantibodies (anti-FH), leading to uncontrolled overactivation of the complement system. …”
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Integrated gene expression and alternative splicing analysis in human and mouse models of Rett syndrome by Silvia Gioiosa, Silvia Gasparini, Carlo Presutti, Arianna Rinaldi, Tiziana Castrignanò, Cecilia Mannironi

“…Abstract Mutations of the MECP2 gene lead to Rett syndrome (RTT), a rare developmental disease causing severe intellectual and physical disability. …”
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Immunopathogenesis of inflammatory bowel diseases by Ye. A. Konovich, I. L. Khalif, M. V. Shapina

“…Innate immunity changes revealed in last years, related to mutations of genes of bacterial structures receptors (NOD2, toll-like receptors, autophagy), cause disorder of endocellular signal processes and pathological activation of cells of adaptive immunodefense of intestinal mucosa and conforming profile of cytokines with development of chronic inflammation which will be mediated: at Crohn's disease – by Th1-and Th17-cells, cytokines IL-12, interferon-γ etc., at ulcerative colitis – by Th2-and NKT-cells, cytokines IL-4 and IL-3 in combination to incompetence of suppressor function of regulatory Т-cells and their cytokines TGF-β (transforming growth factor) and IL-10.Conclusion. …”
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Comparative Molecular Field Analysis (CoMFA) for Thiotetrazole Alkynylacetanilides, a Non-Nucleoside Inhibitor of HIV-1 Double Mutant K103N/Y181C Reverse Transcriptase by Sivan Sree Kanth, Kotla Sai Abhishake, Manga Vijjulatha

“…HIV-1 resistance to nucleoside RT inhibitors such as AZT can arise through mutations in the coding region of RT. Recently a series of thioterazolyl acetanilides were reported as potent inhibitors of HIV-1 wild type and double mutant K103N/Y181C reverse transcriptase. …”
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The study of the regulatory region of the Drosophila melanogaster Notch gene by new methods of directed genome editing by O. V. Andreyenkov, E. I. Volkova, N. G. Andreyenkova, S. A. Demakov

“…In mammals, the family of Notch receptors includes four homologues. In humans, mutations in the Notch gene cause several hereditary diseases and carcinogenesis. …”
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Organoid development and applications in gynecological cancers: the new stage of tumor treatment by Yang Li, Meiying Qin, Ning Liu, Chunmei Zhang

“…In contrast to traditional cell lines and patient-derived xenograft (PDX) models, gynecologic cancer organoids accurately mirror the genetic mutations and specific gene expression profiles of primary tumors. …”
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A scoping review of published literature on chikungunya virus. by Mariola Mascarenhas, Sophiya Garasia, Philippe Berthiaume, Tricia Corrin, Judy Greig, Victoria Ng, Ian Young, Lisa Waddell

“…In addition, a repository of CHIKV mutations associated with evolutionary fitness and adaptation has been created by compiling and characterizing these genetic variants as reported in scientific literature.…”
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