XRCC1 R194W and R399Q Polymorphisms and Colorectal Cancer Risk in a Northeastern Mexican Population by Juan Pablo Meza-Espinoza, Valeria Peralta-Leal, Jorge Durán-González, Nelly Macías-Gómez, Anabel Bocanegra-Alonso, Evelia Leal-Ugarte

“…Its etiopathogenesis is complex, mainly influenced by genetic instability caused by the accumulation of mutations. The XRCC1 gene, which is involved in DNA repair, has been associated with CRC through the R194W (C194T) and R399Q (G399A) polymorphisms, but the results are inconsistent. …”
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Deficient Purposeful Use of Forepaws in Female Mice Modelling Rett Syndrome by Bianca De Filippis, Mattia Musto, Luisa Altabella, Emilia Romano, Rossella Canese, Giovanni Laviola

“…Rett syndrome (RTT) is a rare neurodevelopmental disorder, characterized by severe behavioural and physiological symptoms. Mutations in the methyl CpG binding protein 2 gene (MECP2) cause more than 95% of classic cases. …”
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Alpha synuclein and inflammaging by Geneviève L. Putnam, Robert W. Maitta

“…Regarding abnormal α-syn, a number of autosomal dominant mutations have been identified as causes of familial PD, however, symptomatology may not become apparent until later in life due to compensatory mechanisms in the dopaminergic response. …”
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Tracking the genetic diversity of SARS-CoV-2 variants in Nicaragua throughout the COVID-19 pandemic by Gerald Vásquez Alemán, Cristhiam Cerpas, Jose G. Juarez, Hanny Moreira, Sonia Arguello, Josefina Coloma, Eva Harris, Aubree Gordon, Shannon N. Bennett, Ángel Balmaseda

“…The study also linked specific viral mutations with hospitalization rates, emphasizing the clinical relevance of genomic surveillance. …”
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Recent Advances in the Pathogenesis of Syndromic Autisms by A. Benvenuto, B. Manzi, R. Alessandrelli, C. Galasso, P. Curatolo

“…The PubMed database was searched with the keywords “autism” and “chromosomal abnormalities,” “metabolic diseases,” “susceptibility loci.” Results. Defined mutations, genetic syndromes, and metabolic diseases account for up to 20% of autistic patients. …”
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A Rare Prenatal Case: Greig Cephalopolysyndactyly Syndrome by Tilbe Hakçıl, Gülsüm Kayhan, Tuncay Nas, Pınar Telli Celtemen, Meral Yirmibeş Karaoğuz

“…Greig cephalopolysyndactyly syndrome (GCPS) is a rare genetic disorder characterized by macrocephaly, prominent forehead, hypertelorism, preaxial and/or postaxial polydactyly, and cutaneous syndactyly. Mutations that cause haploinsufficiency in the zinc finger protein family member 3 (GLI3) gene, which is located on the short (p) arm p14 region of chromosome 7 (Chr.7), have been associated with this syndrome. …”
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Loss of Lkb1 cooperates with BrafV600E and ultraviolet radiation, increasing melanoma multiplicity and neural‐like dedifferentiation by Kimberley McGrail, Elena González‐Sánchez, Paula Granado‐Martínez, Roberto Orsenigo, Yuxin Ding, Berta Ferrer, Javier Hernández‐Losa, Iván Ortega, Juan Martín‐Caballero, Eva Muñoz‐Couselo, Vicente García‐Patos, Juan A. Recio

“…Genetic profiling and gene set enrichment analyses of tumor sample mutated genes indicated that loss of Lkb1 promoted the selection of altered genes associated with neural differentiation processes. …”
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A novel mode of histone-like protein HupB regulating Sinorhizobium meliloti cell division through lysine acetylation by Ningning Li, Huibo Jin, Hongbo Li, Huilin Yu, Xiaoxu Wu, Tianci Zhang, Liangliang Yu, Zhaoling Qin, Li Luo

“…Lys3, Lys13, and Lys83 in HupB were identified as acetylated residues by mass spectrometry. Mutating these residues to arginine (stimulating non-acetylation) in HupB impedes normal cell division, while substituting them with glycine (mimicking acetylation) allows for rapid cell duplication. …”
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Lowering the affinity of single-chain monovalent BBB shuttle scFc-scFv8D3 prolongs its half-life and increases brain concentration by Andrés de la Rosa, Nicole G. Metzendorf, Jonathan Efverström, Ana Godec, Dag Sehlin, Jamie Morrison, Greta Hultqvist

“…Initially, in silico protein-protein docking analysis was performed to identify amino acids (AAs) likely to contribute to 8D3s TfR binding affinity. Mutating the identified AAs resulted in decreased TfR binding affinity, increased blood half-life and increased brain concentration. …”
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Selection of suitable reference genes for gene expression studies in HMC3 cell line by quantitative real-time RT-PCR by Martina Fazzina, Matteo Bergonzoni, Francesca Massenzio, Barbara Monti, Flavia Frabetti, Raffaella Casadei

“…PD onset and progression are associated with factors considered possible causes of neuroinflammation, i.e. genetic mutations. In vitro models of microglial cells were established to identify specific molecular targets in PD through the analysis of gene expression data. …”
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Iron metabolism in a mouse model of hepatocellular carcinoma by Dilay Yilmaz, Umesh Tharehalli, Rossana Paganoni, Paul Knoop, Andreas Gruber, Yuexin Chen, Rui Dong, Frank Leithäuser, Thomas Seufferlein, Kerstin Leopold, André Lechel, Maja Vujić Spasić

“…Abstract Hepatocellular carcinoma (HCC) remains the most prevalent type of primary liver cancer worldwide. p53 is one of the most frequently mutated tumor-suppressor genes in HCC and its deficiency in hepatocytes triggers tumor formation in mice. …”
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Applying the Concept of Peptide Uniqueness to Anti-Polio Vaccination by Darja Kanduc, Candida Fasano, Giovanni Capone, Antonella Pesce Delfino, Michele Calabrò, Lorenzo Polimeno

“…To design peptide-based anti-polio vaccines exempt from potential cross-reactivity risks and possibly able to reduce rare potential adverse events such as the postvaccine paralytic poliomyelitis due to the tendency of the poliovirus genome to mutate. Methods. Proteins from poliovirus type 1, strain Mahoney, were analyzed for amino acid sequence identity to the human proteome at the pentapeptide level, searching for sequences that (1) have zero percent of identity to human proteins, (2) are potentially endowed with an immunologic potential, and (3) are highly conserved among poliovirus strains. …”
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Phenogenetics of cortical granule dynamics during zebrafish oocyte-to-embryo transition by Priscila García-Castro, Isabella Giambó-Falian, Ingrid Carvacho, Ricardo Fuentes

“…These genes regulate various stages of CG biology, including biosynthesis, maturation, and exocytosis. Mutations in these genes disrupt these processes, highlighting the maternal genetic control over CG properties. …”
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S1P Lyase Regulation of Thymic Egress and Oncogenic Inflammatory Signaling by Ashok Kumar, Jesus Zamora-Pineda, Emilie Degagné, Julie D. Saba

“…Recently, we identified a complex syndrome comprised of nephrosis, adrenal insufficiency, and immunological defects caused by inherited mutations in human SGPL1, the gene encoding SPL. In the present article, we review current evidence supporting the role of SPL in thymic egress, inflammation, and cancer. …”
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Update on the Progress of Musashi-2 in Malignant Tumors by Yiting Niu, Tao Zhou, Yanjun Li

“…In recent years, research on the MSI protein has advanced, and many novel viewpoints and drug resistance attempts have been derived; for example, tumor protein p53 mutations and MSI-binding proteins lead to resistance to protein arginine N-methyltransferase 5-targeted therapy in lymphoma patients. …”
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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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Ethanolic Extract of Red Okra Pods Induces Aberrant Spindle Segregation and Apoptotic Cell Death by Disrupting the Wnt Signaling Pathway in Colon Cancer Cells by Firli Rahmah Primula Dewi, Sri Puji Astuti Wahyuningsih, Vuanghao Lim, Lionel Lian Aun In, Alfiah Hayati

“…Background: In approximately 80% of colorectal cancer cases, mutations in the adenomatous polyposis coli (APC) gene disrupt the Wingless-related integration site (Wnt)/β-catenin signaling pathway, a crucial factor in carcinogenesis. …”
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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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Comprehensive analysis reveals the tumor suppressor role of macrophage signature gene FCER1G in hepatocellular carcinoma by Deyu Kong, Yiping Zhang, Linxin Jiang, Nana Long, Chengcheng Wang, Min Qiu

“…Additionally, patients in the high-risk group exhibited elevated tumor stemness scores, although no significant differences were observed in microsatellite instability (MSI) and tumor mutational burden (TMB) scores. Immune-related analyses revealed that FCER1G expression was downregulated in HCC and was associated with key pathways such as apoptosis and ferroptosis. …”
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Pseudogenization of the Slc23a4 gene is necessary for the survival of Xdh-deficient mice by Kazuki Terada, Tamaki Watanabe, Nobuhiro Yasuno, Toshio Ohtsubo, Shigeru Shibata, Kimiyoshi Ichida, Makoto Hosoyamada

“…Abstract In most patients with type 1 xanthinuria caused by mutations in the xanthine dehydrogenase gene (XDH), no clinical complications, except for urinary stones, are observed. …”
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