Clinicopathological and molecular characterization of astrocytoma by Xiaoyan Wu, Wenfeng Peng, Xu Zhang, Tao Tang, Ling Deng, Yuxia Xu, Xiaoyun Liu, Fang Wang, Wujian Peng, Jianrong Huang, Xiaoni Zhong

“…Three cases experienced tumour recurrences at the spinal cord site, with multiple recurrences in case 4.DiscussionOur study unveiled the distinctive clinicopathological and molecular mutational characteristics of astrocytoma, while also identifying rare mutated genes. …”
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Serologic Investigations in Children with Inflammatory Bowel Disease and Food Allergy by Urszula Grzybowska-Chlebowczyk, Halina Woś, Aleksander L. Sieroń, Sabina Więcek, Aleksandra Auguściak-Duma, Halina Koryciak-Komarska, Joanna Kasznia-Kocot

“…We observed a connection between the occurrence of antibodies and the examined mutations of gene NOD2/CARD15.…”
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Current Status of Comprehensive Chromosome Screening for Elective Single-Embryo Transfer by Ming-Yih Wu, Kuang-Han Chao, Chin-Der Chen, Li-Jung Chang, Shee-Uan Chen, Yu-Shih Yang

“…Throughout the past few years, we have got a big leap in advancement of the genetic screening of embryos on aneuploidy, translocation, or mutations. This facilitates a higher success rate in IVF accompanied by the policy of elective SET (eSET). …”
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Effect of genomic regions harboring putative lethal haplotypes on reproductive performance in closed experimental selection lines of Nellore cattle by Gustavo R. D. Rodrigues, Joslaine N. S. G. Cyrillo, Lúcio F. M. Mota, Patrícia I. Schmidt, Júlia P. S. Valente, Eduarda S. Oliveira, Lúcia G. Albuquerque, Luiz F. Brito, Maria E. Z. Mercadante

“…Abstract Lethal alleles are mutations in the genome that cause embryonic losses in affected homozygous embryos and, therefore, can negatively influence reproduction rates in commercial populations. …”
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Exploring force-driven stochastic folding dynamics in mechano-responsive proteins and implications in phenotypic variation by Pritam Saha, Vishavdeep Vashisht, Ojas Singh, Amin Sagar, Gaurav Kumar Bhati, Surbhi Garg, Sabyasachi Rakshit

“…Abstract Single-point mutations are pivotal in molecular zoology, shaping functions and influencing genetic diversity and evolution. …”
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Type III Mixed Cryoglobulinemia and Antiphospholipid Syndrome in a Patient With Partial DiGeorge Syndrome by Alice D. Chang, Raffi Tachdjian, Kerry Gallagher, Deborah K. McCurdy, Charles Lassman, E. Richard Stiehm, Ora Yadin

“…Coagulation studies revealed homozygous methylene tetrahydrofolate reductase 677TT mutations, elevated cardiolipin IgM antibodies, and elevated β2-glycoprotein I IgM antibodies. …”
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The Impact of the Metabolic Syndrome Severity on the Appearance of Primary and Permanent DNA Damage by Mirta Milić, Luka Kazensky, Martina Matovinović

“…Unrepaired damage can lead to DNA base changes, chromosomal mutations, genomic loss and instability, and disrupted gene and protein expression. …”
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Amyloid-Beta Induced Changes in Vesicular Transport of BDNF in Hippocampal Neurons by Bianca Seifert, Robert Eckenstaler, Raik Rönicke, Julia Leschik, Beat Lutz, Klaus Reymann, Volkmar Lessmann, Tanja Brigadski

“…Taken together, extracellular cleavage products of APP induced rapid changes in anterograde and retrograde transport of BDNF-containing vesicles while release of BDNF was unaffected by transgenic expression of mutated APP. These early transport deficits might lead to permanently impaired brain functions in the adult brain.…”
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Alu-Sc-mediated exonization generated a mitochondrial LKB1 gene variant found only in higher order primates by Ivan Tan, Sonia Chothani, Hong-Hwa Lim, Kong-Peng Lam

“…Abstract The tumor suppressor LKB1/STK11 plays important roles in regulating cellular metabolism and stress responses and its mutations are associated with various cancers. We recently identified a novel exon 1b within intron 1 of human LKB1/STK11, which generates an alternatively spliced, mitochondria-targeting LKB1 isoform important for regulating mitochondrial oxidative stress. …”
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A Canadian Isolate of Hepatitis D (delta) Virus by Véronique Poisson, Daniel B Ménard, Éric Frost, Jean-Pierre Perreault

“…Surprisingly, seven mutations were found in the 48-nucleotide region located between the two highly conserved self-catalytic motifs. …”
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Immunotherapy as a neoadjuvant preoperative treatment for locally advanced pulmonary sarcomatoid carcinoma: a case report of clinical efficacy by Hanhan Li, Hanhan Li, Ruilian Chen, Wei Guo, Shang Xiang, Shang Xiang, Jiayang Huang, Jiayang Huang, Hanrui Chen

“…At present, the patient maintains a good quality of life, continues with immunotherapy for consolidation and prevention of recurrence, and has reached a survival period of 10 months.ConclusionFor patients with locally advanced PSC who do not have significant genetic mutations, the use of immunotherapy as a first-line neoadjuvant and adjuvant therapy may hold promise for achieving a pCR. …”
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N100 Repetition Suppression Indexes Neuroplastic Defects in Clinical High Risk and Psychotic Youth by Joseph Gonzalez-Heydrich, Michelle Bosquet Enlow, Eugene D’Angelo, Larry J. Seidman, Sarah Gumlak, April Kim, Kristen A. Woodberry, Ashley Rober, Sahil Tembulkar, Kyle O’Donnell, Hesham M. Hamoda, Kara Kimball, Alexander Rotenberg, Lindsay M. Oberman, Alvaro Pascual-Leone, Matcheri S. Keshavan, Frank H. Duffy

“…Highly penetrant mutations leading to schizophrenia are enriched for genes coding for N-methyl-D-aspartate receptor signaling complex (NMDAR-SC), implicating plasticity defects in the disease’s pathogenesis. …”
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Delineating Molecular Mechanisms of Squamous Tissue Homeostasis and Neoplasia: Focus on p63 by Kathryn E. King, Linan Ha, Tura Camilli, Wendy C. Weinberg

“…While not frequently mutated, p63, and in particular the ΔNp63 subclass, is commonly overexpressed in human squamous cell cancers. …”
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Sarcoglycans are enriched at the neuromuscular junction in a nerve-dependent manner by Michela Gloriani, Bianca Cheli, Chiara D’Ercole, Veronica Ruggieri, Marianna Cosentino, Mireia Serrat Pineda, Biliana Lozanoska-Ochser, Francesca Grassi, Marina Bouché, Luca Madaro, Carles Sánchez Riera

“…Although there are 6 different sarcoglycan isoforms, sarcoglycanopathies are caused exclusively by mutations in genes coding for one of the four sarcoglycan transmembrane proteins (alpha, beta, gamma and delta) forming the sarcoglycan complex (SGC) in skeletal and cardiac muscle. …”
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Remodeling of tumor microenvironments by EGFR tyrosine kinase inhibitors in EGFR-mutant non-small cell lung cancer by Soomin Kim, Jaemoon Koh, Tae Min Kim, Songji Oh, Soyeon Kim, Jeonghwan Youk, Miso Kim, Bhumsuk Keam, Yoon Kyung Jeon, Dong-Wan Kim, Dae Seog Heo

“…Summary: Patients with EGFR mutations exhibit immunosuppressive microenvironments, limiting responsiveness to immunotherapy. …”
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Revisiting Key Entry Routes of Human Epidemic Arboviruses into the Mainland Americas through Large-Scale Phylogenomics by Túlio De Lima Campos, Ricardo Durães-Carvalho, Antonio Mauro Rezende, Otávio Valério de Carvalho, Alain Kohl, Gabriel Luz Wallau, Lindomar José Pena

“…Through the analyses of the sequences of arbovirus genomes collected at different locations over time, we identified patterns of accumulated mutations, being able to trace routes of dispersion of these viruses. …”
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Modeling Alzheimer’s Disease with Induced Pluripotent Stem Cells: Current Challenges and Future Concerns by Weiwei Zhang, Bin Jiao, Miaojin Zhou, Tao Zhou, Lu Shen

“…While only a few familial AD cases are due to mutations in three causative genes (APP, PSEN1, and PSEN2), the ultimate cause behind the rest of the cases, called sporadic AD, remains unknown. …”
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Histopathological Characterization and Whole Exome Sequencing of Ectopic Thyroid: Fetal Architecture in a Functional Ectopic Gland from Adult Patient by Rosalinda Yasato Camargo, Cristina Takami Kanamura, Celso Ubirajara Friguglietti, Célia Regina Nogueira, Sonia Iorcansky, Alfio José Tincani, Ana Karina Bezerra, Ester Brust, Fernanda Christtanini Koyama, Anamaria Aranha Camargo, Fernanda Orpinelli R. Rego, Pedro Alexandre Favoretto Galante, Geraldo Medeiros-Neto, Ileana Gabriela Sanchez Rubio

“…All ectopic thyroids expressed the specific thyroid genes and T4 at similar locations to those observed in normal thyroid. No somatic mutations associated with ectopic thyroid were found. …”
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In silico binding role of flavonoids as SARS-CoV-2 main protease (Mpro) inhibitors: A dataset of molecular docking simulation-based high-throughput virtual screening (HTVS)Mendeley... by Mariyam Eema, Vasudeva Rao Avupati

“…Due to the lack of SARS-CoV-2-specific treatment options and rapidly mutating variants, the virus triggered waves of infection and death. …”
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Advancing Obsessive–Compulsive Disorder Research: Insights from Transgenic Animal Models and Innovative Therapies by Xinyuejia Huang, Linglong Xiao, Mengqi Wang, Yang Wu, Hao Deng, Wei Wang

“…Here, we highlight current frontline treatment approaches for OCD, including neuromodulation and surgical interventions, and propose potential future directions. By studying gene mutations and observing phenotypes from available OCD animal models, researchers have classified the molecular signatures of each model reminiscent of changes in brain areas and neural pathways, with the hope of guiding the future selection of the most appropriate models for specific research in the OCD field.…”
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