Clinical and psychosocial context of HIV perinatally infected young mothers in Harare, Zimbabwe: A longitudinal mixed-methods study. by Zivai Mupambireyi, Victoria Simms, Webster Mavhu, Concilia Mutasa, Edward Matsikire, April Ricotta, Margaret Pascoe, Tinei Shamu, Beula Senzanje, Chiara Pierotti, Angela Mushavi, Nicola Willis, Frances M Cowan

“…The high rates of virological failure, drug resistant mutations, mental health issues and mortality observed in this population indicate the need for tailored and comprehensive health and support services to assist these young mothers.…”
Get full text

Comparison of clinical and pharmacodynamic features of proton pump inhibitors efficacy in gastroesophageal reflux disease by O. A. Storonova, A. S. Trukhmanov

“…Intensity of acid-suppressive action of PPI depends on drug metabolic pathways and genetically determined features of cytochrome P450 system. Mutations of CYP2C19 alleles allow to divide the studied patients population into groups of rapid, mediun and slow «metabolizers» that it is necessary to take into account at prescription of the certain drug. …”
Get full text

Sciatic nerve analysis in thyroid hormone transporters Mct8 and Oatp1c1 knockout mice by Steffen Mayerl, Andrea Alcaide Martin, Reinhard Bauer, Heike Heuer

“…Objective: Mutations in the thyroid hormone (TH) transporter monocarboxylate transporter 8 (MCT8) cause Allan–Herndon–Dudley syndrome (AHDS), a severe form of psychomotor retardation with muscle hypoplasia and spastic paraplegia as key symptoms. …”
Get full text

Multi-omics analysis reveals the sensitivity of immunotherapy for unresectable non-small cell lung cancer by Rui Wu, Kunchen Wei, Xingshuai Huang, Yinge Zhou, Xiao Feng, Xin Dong, Hao Tang

“…BackgroundTo construct a prediction model consisting of metabolites and proteins in peripheral blood plasma to predict whether patients with unresectable stage III and IV non-small cell lung cancer can benefit from immunotherapy before it is administered.MethodsPeripheral blood plasma was collected from unresectable stage III and IV non-small cell lung cancer patients who were negative for driver mutations before receiving immunotherapy. Then we classified samples according to the follow-up results after two courses of immunotherapy and non-targeted metabolomics and proteomics analyses were performed to select different metabolites and proteins. …”
Get full text

Tissue-specific roles of de novo DNA methyltransferases by Dániel Márton Tóth, Flóra Szeri, Mária Ashaber, Muhyiddeen Muazu, Lóránt Székvölgyi, Tamás Arányi

“…Additionally, somatic mutations cause common conditions such as osteoarthritis, osteoporosis, clonal hematopoiesis of indeterminate potential (CHIP), hematologic malignancies, and cancer. …”
Get full text

On the space of SARS-CoV-2 genetic sequence variants by A. Yu. Palyanov, N. V. Palyanova

“…We have developed software capable of loading and analyzing SARS-CoV-2 nucleotide sequences in FASTA format, determining the 5’ and 3’ UTR positions, the number and location of unidentified nucleotides (“N”), performing alignment with the reference sequence by calling the program designed for this, determining mutations, deletions and insertions, as well as calculating various characteris tics of virus genomes with a given time step (days, weeks, months, etc.). …”
Get full text

The genomes of Scedosporium between environmental challenges and opportunism by Francesco Venice, Federica Spina, Domenico Davolos, Stefano Ghignone, Giovanna Cristina Varese

“…We found these gene families to be impacted by expansions, orthologous transposon insertions, and point mutations. With RNA-seq, we demonstrated that most of these anciently impacted genomic features responded to the stress imposed by an antifungal compound (voriconazole) in the two environmental strains S. aurantiacum MUT6114 and S. minutisporum MUT6113. …”
Get full text

Villes durables : leviers de nouveaux modèles économiques et de développement? by Jean-Christophe Lipovac, Antoine Boutonné

“…Toutefois, les villes, en Europe en particulier, sont confrontées à un ensemble de mutations sociales et économiques profondes. Pour répondre à ces défis majeurs, les responsables politiques, professionnels et entreprises impliquées dans la réalisation et la gestion de la ville, ainsi que les habitants et l'ensemble des usagers sont appelées à changer, voire à transformer profondément leur vision de la ville, leurs manières d'intervenir et d'agir, et de vivre la ville. …”
Get full text

Sex-biased gene expression across tissues reveals unexpected differentiation in the gills of the threespine stickleback by Sylvestre, Florent, Aubin-Horth, Nadia, Bernatchez, Louis

“…However, sex-biased expression of genes that have conserved copies on both sex chromosomes is likely driven by the degeneration of Y allele expression and a down-regulation of male-beneficial mutations on the X chromosome.…”
Get full text

Juvenile coat colours in mini-pigs at ICG by S. V. Nikitin, S. P. Knyazev, K. S. Shatokhin, G. M. Goncharenko, V. I. Zaporozhets, V. I. Ermolayev

“…It was suggested that the specially planned crosses were able to “reveal” the genetic load of mutations in the complex of alleles involved in the formation of the suit of the wild type and accumulated in the population, not exposed to stabilizing selection on this archaic for domestic pigs’ colour. …”
Get full text

Transcriptome Analysis of the Effect of Acute Ammonia Stress on <i>Pseudobagrus ussuriensis</i> Liver Tissue by Shun Shi, Xiaohui Sun, Chunnuan Zhang, Chenran Lv, Yajuan Liu, Juan Du, Qian Qi

“…These results suggest that ammonia stress induces liver damage in <i>P. ussuriensis</i>, causing genetic mutations and cellular carcinogenesis, thereby accelerating cell apoptosis.…”
Get full text

Comparative evaluation of localized genotoxicity between the field of focus and scatter following exposure to cone beam computed tomography using buccal mucosal micronuclei assay:... by Rajeswari Sreeenivas, Algi Nadil, Priya Thomas, Giju George Baby, Deepu George Mathew, Pooja Latti, Jiss George

“…Introduction: X-rays, a crucial diagnostic tool, are known for their cytotoxic and mutagenic effects, capable of inducing gene mutations and chromosomal aberrations. Despite this, the risks, especially from dental X-ray machines, are often overlooked. …”
Get full text

The emerging role of glycine receptor α2 subunit defects in neurodevelopmental disorders by Sean D. Fraser, Sean D. Fraser, Robert J. Harvey, Robert J. Harvey

“…We also highlight potential future developments in the field, including routes to personalized medicines for individuals with GlyR α2 mutations.…”
Get full text

Мutants of inflorescence development in alfalfa (Medicago sativa L.) by N. I. Dzyubenko, E. A. Dzyubenko

“…New data concerning genes regulating inflorescence development in model legumes approach us to understanding the phenomenon of inflorescence mutations in alfalfa. The information of inflorescence mutants in nonmodel crops may augment our knowledge of plant development and help crop improvement.…”
Get full text

Pipeline for development of acylated peptide based CGRP receptor antagonist with extended half-life for migraine treatment by Jens Bjelke Kristensen, Lisbeth Elster, Morten Lundh, Borja Ballarín-González, Flora Alexopoulou, Martin Kræmer, Ditte Marie Jensen, Ulrike Leurs, Jens Christian Nielsen, Henrik H. Hansen, Kristian A. Haanes, Matilda Degn

“…An hαCGRP8-37 analogue conjugated with a C20 diacid at position 25 was subjected to an amino acid substitution scan to identify mutations that could further enhance hCGRP receptor antagonism. …”
Get full text

Evaluation of EGFR-TKIs and ICIs treatment stratification in non-small cell lung cancer using an encrypted multidimensional radiomics approach by Xingping Zhang, Xingting Qiu, Yue Zhang, Qingwen Lai, Yanchun Zhang, Guijuan Zhang

“…The study also explored the association between different EGFR mutations and PD-1/PD-L1 expression in radiomics biomarkers. …”
Get full text

Crop genes modified using CRISPR/Cas system by A. M. Korotkova, S. V. Gerasimova, V. K. Shumny, E. K. Khlestkina

“…It can provide the development of modified nontransgenic plants with the possibility of simultaneous multiple targeted mutations. The purpose of this review is to analyze published papers describing the utilization of the CRISPR/Cas system for crop gene modification in order to assess the potential of this technology as a new plant breeding technique. …”
Get full text

High-Resolution Melting Analysis to Detect Antimicrobial Resistance Determinants in South African Neisseria gonorrhoeae Clinical Isolates and Specimens by Nireshni Mitchev, Ravesh Singh, Veron Ramsuran, Arshad Ismail, Mushal Allam, Stanford Kwenda, Florah Mnyameni, Nigel Garrett, Khine Swe Swe-Han, Abraham J. Niehaus, Koleka P. Mlisana

“…Whole-genome sequencing was used as the gold standard for the presence of point mutations. Results. The real-time porA pseudogene assay identified all N. gonorrhoeae-positive isolates and specimens. …”
Get full text

Context aware machine learning techniques for brain tumor classification and detection – A review by Usman Amjad, Asif Raza, Muhammad Fahad, Doaa Farid, Adnan Akhunzada, Muhammad Abubakar, Hira Beenish

“…Objectives: This review aims to predict gene alterations and establish structured correlations among various tumor types, extending the prediction of genetic mutations and structures using the latest machine learning techniques. …”
Get full text

Computational Study of the Phytochemical Constituents from Uncaria tomentosa Stem Bark against SARS-CoV-2 Omicron Spike Protein by Oscar Herrera-Calderon, Abdulrahman M. Saleh, Andres F. Yepes-Perez, Nada H. Aljarba, Saad Alkahtani, Gaber El-Saber Batiha, Renan Dilton Hañari-Quispe, Haydee Chavez, Josefa Bertha Pari-Olarte, Eddie Loyola-Gonzales, José Santiago Almeida-Galindo, José Francisco Kong-Chirinos, Taoufiq Benali

“…The SARS-CoV-2 Omicron variant has spread rapidly and is considered the predominant variant in the world, and its main characteristic is related to evade immunity from natural infection or vaccines, due to its multiple mutations in the spike protein. On the other hand, medicinal plants have been used as alternatives therapies to ameliorate some signs and symptoms in COVID-19, and in our previous work, the cat’s claw (Uncaria tomentosa) stem bark has been studied in vitro and showed antiviral activity on SARS-CoV-2 as well as in silico studies on the 3CLpro protein and as disruptor between the ACE-2 human receptor and the spike protein. …”
Get full text