Genetic association of lipid and lipid-lowing drug targets with uterine fibroids by Mei Wu, Qiannan Lin, Siyu Li, Huiyan Wang, Wenbo Zhou

“…Methods: Genetic variants from genome-wide association studies (GWAS) of lipid traits and variants in genes encoding lipid-lowering drug targets were extracted, and two independent UF GWAS were set as the outcome. …”
Get full text

A novel de novo GABRA2 gene missense variant causing developmental epileptic encephalopathy in a Chinese patient by Li Yang, Xingyu Wan, Ran Hua, Junhong Jiang, Baotian Wang, Rui Tao, De Wu

“…Abstract Background Variants in the GABRA2 gene, which encodes the α2 subunit of the γ‐aminobutyric acid A receptor, have been linked to a rare form of developmental and epileptic encephalopathy (DEE) referred to as DEE78. …”
Get full text

Transcriptome Sequencing Reveals Regulatory Mechanisms of Taxol Synthesis in Taxus wallichiana var. Mairei by Tao Wang, Yiming Chen, Weibing Zhuang, Fengjiao Zhang, Xiaochun Shu, Zhong Wang, Qing Yang

“…This also indicates that taxol biosynthesis in T. mairei is associated with the balance of cell development and defense. TF-encoding (transcriptional factor) genes, represented by the ethylene-responsive transcription factor (ERF), basic/helix-loop-helix (bHLH), MYB, and WRKY families, were detected as differentially expressed between JXS and WT, further indicating that the regulation of hormone signaling on taxol biosynthesis genes was mediated by transcription factors (TFs). …”
Get full text

MicroRNA-541-3p/Rac2 signaling bridges radiation-induced lung injury and repair by Jiandong Zhang, Lei Ma, Limin He, Quanxiao Xu, Yan Ding, Lidong Wang

“…MicroRNA-541-3p and Rac2 regulate the expression of Tgf-beta1 and its encoded proteins. Conclusions: The Rac2 gene synchronously regulates TNFRSF10B-RIPK1/RIPK3-MLKL and TGFβ1 signaling. …”
Get full text

Improving diagnostic precision in thyroid nodule segmentation from ultrasound images with a self-attention mechanism-based Swin U-Net model by Changan Yang, Muhammad Awais Ashraf, Mudassar Riaz, Pascal Umwanzavugaye, Kavimbi Chipusu, Kavimbi Chipusu, Hongyuan Huang, Yueqin Xu

“…The model integrates residual and multiscale convolutional structures in the encoder path, with long skip connections feeding into an attention module to improve edge preservation and feature extraction. …”
Get full text

Impact of pubertal timing on growth progression and final height in subjects affected by RASopathies by Federica Tamburrino, Laura Mazzanti, Dino Gibertoni, Concetta Schiavariello, Annamaria Perri, Eleonora Orlandini, Cesare Rossi, Marco Tartaglia, Marcello Lanari, Emanuela Scarano

“…BackgroundRASopathies, including Noonan syndrome and related disorders, are multisystem conditions caused by mutations in various genes encoding proteins involved in the RAS/MAPK signaling pathway resulting in increased signal flow. …”
Get full text

Immunomodulatory Effect of Phage Depolymerase Dep_kpv74 with Therapeutic Potential Against K2-Hypervirulent <i>Klebsiella pneumoniae</i> by Nikolay V. Volozhantsev, Maria A. Makarova, Alena S. Kartseva, Marina V. Silkina, Valentina M. Krasilnikova, Egor A. Denisenko, Alexander I. Borzilov, Victoria V. Firstova

“…Previously, the therapeutic effectiveness of phage-encoded depolymerase Dep_kpv74 in a mouse model of <i>K. pneumoniae</i>-induced thigh soft tissue infection was reported. …”
Get full text

Research on Traffic Accident Severity Level Prediction Model Based on Improved Machine Learning by Jiming Tang, Yao Huang, Dingli Liu, Liuyuan Xiong, Rongwei Bu

“…In the experiment, effective preprocessing measures were taken for problems such as data imbalance, missing values, the encoding of categorical variables, and the standardization of numerical features. …”
Get full text

Comparative genomics analyses of Actinobacteriota identify Golgi phosphoprotein 3 (GPP34) as a widespread ancient protein family associated with sponge symbiosis by Cláudia Ferreira, Ilia Burgsdorf, Tzipora Perez, Gustavo Ramírez, Maya Lalzar, Dorothée Huchon, Laura Steindler

“…Results Our analysis uncovered several differences between symbiotic and free-living bacteria, including an increased abundance of genes encoding prokaryotic defense systems (PDSs) and eukaryotic-like proteins (ELPs) in symbionts. …”
Get full text

First Report of SNPs Detection in TMEM154 Gene in Sheep from Poland and Their Association with SRLV Infection Status by Magdalena Materniak-Kornas, Katarzyna Piórkowska, Katarzyna Ropka-Molik, Adrianna Dominika Musiał, Joanna Kowalik, Anna Kycko, Jacek Kuźmak

“…Recent reports revealed several candidates, including gene encoding transmembrane protein 154 (TMEM154). Several single nucleotide polymorphisms (SNPs) are found within this gene in sheep of different breeds, but only some can be considered as resistant markers. …”
Get full text

A 3D Clinical Face Phenotype Space of Genetic Syndromes Using a Triplet-Based Singular Geometric Autoencoder by Soha S. Mahdi, Eduarda Caldeira, Harold Matthews, Michiel Vanneste, Nele Nauwelaers, Meng Yuan, Giorgos Bouritsas, Gareth S. Baynam, Peter Hammond, Richard Spritz, Ophir D. Klein, Michael Bronstein, Benedikt Hallgrimsson, Hilde Peeters, Peter Claes

“…The proposed model consists of three main components: an encoder based on GDL optimizing distances between groups of individuals in the CFPS, a decoder enhancing classification by reconstructing faces, and a singular value decomposition layer maintaining orthogonality and optimal variance distribution across dimensions. …”
Get full text

Derivation and Characterization of Isogenic <i>OPA1</i> Mutant and Control Human Pluripotent Stem Cell Lines by Katherine A. Pohl, Xiangmei Zhang, Johnny Jeonghyun Ji, Linsey Stiles, Alfredo A. Sadun, Xian-Jie Yang

“…The majority of DOA is caused by mutations in the <i>OPA1</i> gene, which encodes a dynamin-related GTPase located to the mitochondrion. …”
Get full text

SAlexNet: Superimposed AlexNet using residual attention mechanism for accurate and efficient automatic primary brain tumor detection and classification by Qurat-ul-ain Chaudhary, Shahzad Ahmad Qureshi, Touseef Sadiq, Anila Usman, Ambreen Khawar, Syed Taimoor Hussain Shah, Aziz ul Rehman

“…In this work, we propose Superimposed AlexNet (SAlexNet-1 and its extension SAlexNet-2) to detect the malignancy of primary brain tumors (Glioma, Meningioma, and Pituitary) by incorporating three enhancements: (1) fusing Hybrid Attention Mechanism (HAM), (2) dense feature extraction by replacing initial convolution 11 × 11 layer with multiple convolution 3 × 3 layers for extra non-linearity alleviating parameter burden, and (3) pretraining the encoder path on a correlated dataset via semi-transfer learning (STL) enhancing model performance. …”
Get full text

Genetic Background and Phenotypic Aspects of Light-Induced Carotenoid Biosynthesis in <i>Isosphaeraceae</i> Planctomycetes by Anastasia A. Ivanova, Igor Y. Oshkin, Aleksandr A. Ashikhmin, Olga V. Danilova, Svetlana N. Dedysh

“…The biosynthesis of C30 carotenoids via squalene, as evidenced by the presence of <i>hpnCDE</i> and <i>crtNPQO</i> gene clusters, was encoded in genomes of all pigmented <i>Singulisphaera</i>, <i>Aquisphaera</i>, and <i>Paludisphaera</i> species. …”
Get full text

Identification of alterations in the nucleotide sequence of the chromatin remodeling gene PBRM1 in clear cell renal cell carcinoma patients by E. A. Klimentova, I. R. Gilyazova, A. A. Izmailov, I. M. Sultanov, M. A. Bermisheva, V. N. Pavlov, E. K. Khusnutdinova

“…One of these genes, which are inactivated in the case of ccRCC is the PBRM1 gene encoding the PBAF SWI/SNF subunit of the chromatin remodeling complex, BAF180. …”
Get full text

How do staff work in NHS hospital operations management meetings to support resilience in everyday service delivery? A qualitative study by L. Sutton, C. Tarrant, J. Willars, T. Coats, M. Simmonds, D. Mclean, A. Boyle, K. Dreesbeimdiek, S. Richter, A. Oyedijo, D. Roland

“…Review of centralised data, formally encoded and recorded in numerical form, played an important role, but staff also drew on local intelligence to make sense of and adapt to often pressurised situations. …”
Get full text

Comparative analysis of lactaptin activity when produced in bacterial or eukaryotic expression systems by O. A. Koval, O. Y. Volkova, A. A. Gorchakov, S. V. Kulemzin, A. V. Tkachenko, A. A. Nushtaeva, E. V. Kuligina, V. A. Richter, A. V. Taranin

“…Using lentiviral vector pCDH as a backbone, two constructs, pEL1 and pEL2, encoding secreted forms of lactaptin that differ in their signal sequences were created. …”
Get full text

Transcription Factor E2F-1 Is Upregulated in Human Gastric Cancer Tissues and Its Overexpression Suppresses Gastric Tumor Cell Proliferation by Qiang Xiao, Lei Li, Yubo Xie, Ning Tan, Changqing Wang, Junyi Xu, Keyi Xia, Kevin Gardner, Qingdi Q. Li

“…Our data clearly showed that cell growth and proliferation were significantly inhibited in MKN-45 tumor cells transfected with the expression vector encoding E2F-1 in comparison with nontransfected cells or cells transfected with empty vector. …”
Get full text

Development and evaluation of a recombinant monoclonal human antibody with virus-neutralizing activity against the F glycoprotein of respiratory syncytial virus by Sergey A. Klotchenko, Ekaterina A. Romanovskaya-Romanko, Marina A. Plotnikova, Anastasia A. Pulkina, Aram A. Shaldzhyan, Dmitry S. Balabashin, Victoria A. Toporova, Teimur K. Aliev, Natalia E. Gyulikhandanova, Dmitry A. Lioznov

“…Materials and methods. Constructs encoding the recombinant antibody FM1 were designed using genetic engineering. …”
Get full text

Dopamine receptors and key elements of the neurotrophins (BDNF, CDNF) expression patterns during critical periods of ontogenesis in the brain structures of mice with autism-like be... by P. D. Pravikova, M. A. Arssan, E. A. Zalivina, E. M. Kondaurova, E. A. Kulikova, I. I. Belokopytova, V. S. Naumenko

“…In BTBR embryos, on the 14th day of prenatal development, an increase in the expression of the Ngfr gene encoding the p75NTR receptor, which may lead to the activation of apoptosis, was found in the hippocampus and frontal cortex. …”
Get full text