Positive and negative regulation of Gli activity by Kif7 in the zebrafish embryo. by Ashish Kumar Maurya, Jin Ben, Zhonghua Zhao, Raymond Teck Ho Lee, Weixin Niah, Ashley Shu Mei Ng, Audrey Iyu, Weimiao Yu, Stone Elworthy, Fredericus J M van Eeden, Philip William Ingham

“…Loss of function mutations of Kif7, the vertebrate orthologue of the Drosophila Hh pathway component Costal2, cause defects in the limbs and neural tubes of mice, attributable to ectopic expression of Hh target genes. …”
Get full text

The problem of norovirus infection in animals (literature review) by V. А. Mischenko, A. V. Mischenko, T. B. Nikeshina, O. N. Petrova, Yu. V. Brovko, A. I. Kushlubaeva

“…The norovirus genome is prone to mutations, resulting in antigenic shifts and recombination, as well as the emergence and rapid spread of new epidemic and epizootic variants. …”
Get full text

Technological properties of grain and flour in bread wheat (<i>Triticum aestivum</i> L.) genotypes carrying two loci that determine the endosperm structure by A. V. Simonov, T. A. Pshenichnikova

“…When milled, such grain breaks down into small starch granules covered with proteins. Mutations that disrupt the synthesis or structure of puroindolines determine the hardness and vitreousness of the grain. …”
Get full text

Bántalmazás jelenségének vizsgálata az enyhén értelmi fogyatékos és az ép intellektussal rendelkező, tipikus fejlődésű középiskolás tanulók esetében by Szabolcs Varga, Fruzsina Sebestyén

“…Érték: A kutatás rávilágít arra, hogy az oktatási intézményekben a mai napig magas számban fordul elő a „bullying” jelensége, mely nemcsak a tipikus fejlődésű kiskorú korosztályt, hanem az értelmi fogyatékosok csoportját is jelentős mértékben érinti. A kutatás irányt mutat a jövőben más fogyatékossági csoportok vonatkozásában is a fenti kérdés vizsgálatához. …”
Get full text

Fetoplacental Discrepancy with Normal Karyotype in Amniotic Fluid and Two Different Cell Lines in Placenta by Veronica Ortega, Christina Mendiola, Eric Williamson, Kenneth Higby, Gopalrao V. N. Velagaleti

“…Mother was a carrier for the Cystic Fibrosis (delta F508), Factor V Leiden mutations, HbD-Los Angeles and HbQ-India variants. …”
Get full text

A comprehensive pan-cancer analysis of RNF187 in human tumors by Xuezhong Zhang, Xuebin Zhang, Tonggang Liu, Kaihui Sha

“…The findings highlighted associations between RNF187 expression and Tumor Mutational Burden (TMB), Microsatellite Instability (MSI) and Homologous Recombination Deficiency (HRD) in specific tumors. …”
Get full text

An Active-Learning Framework for Educating Medical Students on SARS-CoV-2 Variants and COVID-19 Epidemiology [version 1; peer review: 2 approved] by Samiksha Prasad, Amanda J Chase

“…The post-session survey data showed an increase in students’ understanding of the classification of COVID-19 variants and the role of genetic mutations in viral pathogenesis. Qualitative data yielded positive feedback for the session, notably in students' ability to interpret phylogenetic trees and understand the role of variants. …”
Get full text

Screening Children with a Family History of Central Congenital Hypoventilation Syndrome by Hina Emanuel, Kimberly Rennie, Kelly Macdonald, Aravind Yadav, Ricardo A. Mosquera

“…We report four individuals across two generations harboring heterozygous 25 polyalanine repeats mutations (PARMs) in PHOX2B with a varying degree of phenotypic clinical manifestations. …”
Get full text

Discovery of amino acid substitutions in penicillin-binding proteins associated with adaptation to D-Ala-D-Lac in vancomycin-resistant Enterococcus faecalis by Nese Caglayan, Banu Sancak, Zeynep Kanlidere, Tanil Kocagoz, Tanil Kocagoz

“…Here, we performed Sanger sequencing and alignment of PBP genes from both vancomycin-susceptible and -resistant E. faecalis strains to identify mutations, following amplification by PCR. We then applied homology modeling to assess structural impacts of these changes on PBPs and conducted docking studies to investigate ligand-binding interactions. …”
Get full text

Identification of Synthetic Food Colours in Selected Confectioneries and Beverages in Jaffna District, Sri Lanka by P. G. T. Dilrukshi, Helani Munasinghe, A. Buddhika G. Silva, P. G. S. M. De Silva

“…This may lead to severe health problems such as mutations, cancers, reduced haemoglobin concentrations, and allergic reactions. …”
Get full text

Investigating a role for PUB17 and PUB16 in the self‐incompatibility signaling pathway in transgenic Arabidopsis thaliana by Paula K. S. Beronilla, Daphne R. Goring

“…Two close ARC1 homologs, PUB17 and PUB16, were selected, and (Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)/CRISPR‐associated protein 9 (Cas9) technology was used to generate pub17 and pub16 mutations in the C24 accession. These mutants were then crossed into the transgenic A. thaliana SI‐C24 line and their potential impact on SI pollen rejection was investigated. …”
Get full text

State-of-the-art gene therapy for inherited retinal disorders by O.I. Orenburkina, A.E. Babushkin

“…Gene replacement therapy (GRT) with single subretinal administration of voretigene neparvovec has already been developed for hereditary retinal dystrophies caused by established biallelic mutations in the RPE65 gene, i.e., Leber congenital amaurosis 2 and retinitis pigmentosa 20. …”
Get full text

An epidemiological model of SIR in a nanotechnological innovation environment by David Svoboda, Ondřej Havelka, Julie Holendová, Jiří Kraft

“…Within the framework of high interdisciplinarity, nanotechnologies, like viruses, tend to 'mutate' into different industries where their 'infectivity' varies. …”
Get full text

Identifying novel heterozygous PI4KA variants in fetal abnormalities by Chen Cheng, Fan Yang, Xinlin Chen, Sheng Zhao

“…Conclusions This study extended the mutational spectrum of PI4KA and may provide guidance for genetic counseling. …”
Get full text

Application of Gene Expression Programming to Evaluate Strength Characteristics of Hydrated-Lime-Activated Rice Husk Ash-Treated Expansive Soil by Kennedy C. Onyelowe, Fazal E. Jalal, Michael E. Onyia, Ifeanyichukwu C. Onuoha, George U. Alaneme

“…In this work, expansive soil classified as A-7-6 group soil was treated with hydrated-lime activated rice husk ash (HARHA) in an incremental proportion to produce 121 datasets, which were used to predict the behavior of the soil’s strength parameters utilizing the mutative and evolutionary algorithms of GEP. The input parameters were HARHA, liquid limit (wL), (plastic limit wP, plasticity index IP, optimum moisture content (wOMC), clay activity (AC), and (maximum dry density (δmax) while CBR, UCS, and R value were the output parameters. …”
Get full text

The highly prolific phenotype of Lacaune sheep is associated with an ectopic expression of the B4GALNT2 gene within the ovary. by Laurence Drouilhet, Camille Mansanet, Julien Sarry, Kamila Tabet, Philippe Bardou, Florent Woloszyn, Jérome Lluch, Grégoire Harichaux, Catherine Viguié, Danielle Monniaux, Loys Bodin, Philippe Mulsant, Stéphane Fabre

“…Prolific sheep have proven to be a valuable model to identify genes and mutations implicated in female fertility. In the Lacaune sheep breed, large variation in litter size is genetically determined by the segregation of a fecundity major gene influencing ovulation rate, named FecL and its prolific allele FecL(L) . …”
Get full text

Character in Young Adult fiction: The example of Lyra in Philip Pullman’s His Dark Materials (1995-2000) and The Book of Dust (2017- ) by Virginie DOUGLAS

“…This literature targeting a liminal age group whose boundaries are increasingly blurred, fragments its young characters’ evolution ad infinitum by following them step by step towards adulthood as a way to better dissect the mutations and metamorphoses of adolescence. Even if His Dark Materials identified puberty as a turning-point in the young protagonists’ process of growing up and construction of identity, it is significant that Pullman, who had already added a small companion book—entitled Lyra’s Oxford—to the trilogy’s literary universe, is still trying to explore the multiple dimensions of Lyra’s constantly shifting character: while book 1 of The Book of Dust, Pullman’s new trilogy, La Belle Sauvage (2017), is a prequel to His Dark Materials, which focuses on Lyra as a baby—before the action in Northern Lights takes place—, book 2, The Secret Commonwealth (2019), takes a closer look at Lyra once she has become a young woman, after her meeting with Will in His Dark Materials.…”
Get full text

Disulfidptosis-related immune patterns predict prognosis and characterize the tumor microenvironment in oral squamous cell carcinoma by Xuechen Wu, Boxin Liu, Shi-Zhou Deng, Tengteng Xiong, Lin Dai, Bo Cheng

“…The analysis results showed that disulfidptosis was tightly related to immune cells, immunological-related pathways, the tumor microenvironment (TME), immune checkpoints, human leukocyte antigen (HLA), and tumor mutational burden (TMB). The nomogram, integrating the risk score and clinical factors, accurately predicted overall survival. …”
Get full text

RBM10 promotes transformation-associated processes in small cell lung cancer and is directly regulated by RBM5. by Julie J Loiselle, Justin G Roy, Leslie C Sutherland

“…Due to their similarities, and the recent evidence that RBM10 is mutated in up to 21% of lung cancers, we hypothesized that RBM10 would share RBM5's tumor-suppressor properties in SCLC. …”
Get full text

Colon Cancer Genetic and Epigenetic Changes, Etiopathogenesis, Risk Factors, Treatment: Literature Review by Gabrielė Ūbaitė, Aurelija Remeikaitė, Justas Žilinskas

“…Our findings emphasize the central role of genetic mutations (particularly in APC, TP53, KRAS and MMR) and epigenetic alterations, such as DNA methylation and histone modification, in the pathogenesis of colorectal cancer. …”
Get full text