Role of interleukin-4 receptor α polymorphism in patients with asthma and its correlation with asthma severity by Nidhi Girdhar, Karan Sharma, Satyajit Deshpande, Siddharth Sharma, Vishal Chopra, Anil Sontakke

“…While this report clearly necessitates a more detailed study, it is plausible that IL-4 mutation has a significant role in the development of asthma and, thus, can play an important role in developing targeted therapy. …”
Get full text

Did selective kinase inhibitors change the management of patients with radioiodine-refractory thyroid cancer? by Tommaso Porcelli, Cristina Luongo, Anna Cerbone, Carmine Di Luccio, Mariantonia Nacchio, Maria Angela De Stefano, Martin Schlumberger, Domenico Salvatore

“…Conclusion: S-TKIs permitted tailoring systemic treatment based on disease location, tumour volume and patient comorbidities, achieving satisfactory tolerance and outcomes in selected patients with an actionable driver mutation and with contraindications to angiogenesis inhibitors or candidates for redifferentiation therapy.…”
Get full text

Comparison of CRISPR-Cas13b RNA base editing approaches for USH2A-associated inherited retinal degeneration by Lewis E. Fry, Lauren Major, Ahmed Salman, Lucy A. McDermott, Jun Yang, Andrew J. King, Michelle E. McClements, Robert E. MacLaren

“…Abstract CRISPR-Cas13 systems have therapeutic promise for the precise correction of point mutations in RNA. Using adenosine deaminase acting on RNA (ADAR) effectors, A-I base conversions can be targeted using guide RNAs (gRNAs). …”
Get full text

Impact of Bone Marrow Aspirate Tregs on the Response Rate of Younger Newly Diagnosed Acute Myeloid Leukemia Patients by Mario Delia, Paola Carluccio, Anna Mestice, Claudia Brunetti, Francesco Albano, Giorgina Specchia

“…However, in multivariate analysis, apart from the expected impact of the molecular/cytogenetic risk (p=0.049) and NPM mutation (p=0.001), dBMA Tregs ≥ 21/μL was not correlated with OR. …”
Get full text

Research on Noise Reduction Method of Pressure Pulsation Signal of Draft Tube of Hydropower Unit Based on ALIF-SVD by Yan Ren, Pan Liu, Leiming Hu, Jin Huang, Ruoyu Qiao, Hongping Chen, Xiaokai Li, Shaojie Huang

“…First, perform ALIF decomposition of the signal to be decomposed to obtain a series of IMF components, calculate the sample entropy of each component, select some IMF components to reconstruct according to the set sample entropy threshold, and then perform SVD decomposition on the reconstructed signal, and according to the location of the singular value difference spectrum mutation point, the appropriate number of reconstructions is selected for reconstruction, so as to achieve the double noise reduction effect. …”
Get full text

SLC6A4 5HTTLPR Polymorphism Affects Insulin Secretion in Patients with Polycystic Ovary Syndrome by Barbara Šenk, Katja Goričar, Nika Aleksandra Kravos, Mojca Jensterle Sever, Andrej Janež, Vita Dolžan

“…Further studies are needed to conclude whether the observed effect is characteristic for PCOS-related metabolic disturbances or for the identified mutation in different high metabolic risk populations.…”
Get full text

SARS-CoV-2 ORF3a accessory protein is a water-permeable channel that induces lysosome swelling by Antonio Michelucci, Luigi Sforna, Riccardo Focaia, Maria Vittoria Leonardi, Angela Di Battista, Giorgia Rastelli, Simone Vespa, Simona Boncompagni, Manlio Di Cristina, Luigi Catacuzzeno

“…Consistent with this, N82L and N82W mutations abolish ORF3a-mediated water permeation. …”
Get full text

Characterization of the Prediabetic State in a Novel Rat Model of Type 2 Diabetes, the ZFDM Rat by Ghupurjan Gheni, Norihide Yokoi, Masayuki Beppu, Takuro Yamaguchi, Shihomi Hidaka, Ayako Kawabata, Yoshikazu Hoshino, Masayuki Hoshino, Susumu Seino

“…We recently established a novel animal model of obese type 2 diabetes (T2D), the Zucker fatty diabetes mellitus (ZFDM) rat strain harboring the fatty mutation (fa) in the leptin receptor gene. Here we performed a phenotypic characterization of the strain, focusing mainly on the prediabetic state. …”
Get full text

Multifactorial Origin of Exertional Rhabdomyolysis, Recurrent Hematuria, and Episodic Pain in a Service Member with Sickle Cell Trait by Nyamkhishig Sambuughin, Mingqiang Ren, John F. Capacchione, Ognoon Mungunsukh, Kevin Chuang, Iren Horkayne-Szakaly, Francis G. O’Connor, Patricia A. Deuster

“…He carried a pathogenic mutation, NPHS2 p.V260E, reported in nephropathy and a new variant p.R838Q in SCN11A, a gene involved in familial episodic pain syndrome. …”
Get full text

Association between JAK2 rs4495487 Polymorphism and Risk of Budd-Chiari Syndrome in China by Peijin Zhang, Yanyan Zhang, Jing Zhang, Hui Wang, He Ma, Wei Wang, Xiuyin Gao, Hao Xu, Zhaojun Lu

“…The CC genotype increased the risk of BCS in patients with JAK2 V617F mutation compared with individuals presenting TT genotype (OR = 13.60, 95% CI = 2.04–90.79) and non-CC genotype (OR = 12.00, 95% CI = 2.07–69.52). …”
Get full text

Overview of Recent Advances in Canine Parvovirus Research: Current Status and Future Perspectives by Hongzhuan Zhou, Kaidi Cui, Xia Su, Huanhuan Zhang, Bing Xiao, Songping Li, Bing Yang

“…CPV is prone to rapid mutation, leading to the emergence of new variants. …”
Get full text

miR-432-5p Inhibits the Ferroptosis in Cardiomyocytes Induced by Hypoxia/Reoxygenation via Activating Nrf2/SLC7A11 Axis by Degrading Keap1 by Wei Geng, Shaohua Yan, Xinyue Li, Qiumei Liu, Xuefei Zhang, Xinshun Gu, Xiang Tian, Yunfa Jiang

“…Upregulation of miR-432-5p inhibited ferroptosis of cardiomyocytes induced by RAS-selective lethal 3 (RSL3), an inhibitor of GPX4 and ferroptosis inducer through decreasing the binding protein of Nrf2, Keap1, which was confirmed by bioinformatics and mutation assay. Knockdown Nrf2 attenuates the protection effect of miR-432-5p on H/R cardiomyocytes. …”
Get full text

Alzheimer-mutant γ-secretase complexes stall amyloid β-peptide production by Parnian Arafi, Sujan Devkota, Emily Williams, Masato Maesako, Michael S Wolfe

“…Fluorescence lifetime imaging microscopy in intact cells revealed that all six PSEN1 FAD mutations lead to stalled γ-secretase enzyme-substrate/intermediate complexes. …”
Get full text

Combined anti-leukemic effect of gilteritinib and GSK-J4 in FLT3-ITD+ acute myeloid leukemia by Qi Zhou, Yongyu Guan, Pingping Zhao, Huiyuan Chu, Yaming Xi

“…Gilteritinib treats acute myeloid leukemia (AML) with the FMS-like receptor tyrosine kinase-3 (FLT3) internal tandem duplication (ITD) mutation. Dysregulation of histone modification affects the genesis and progression of AML. …”
Get full text

Prognostic Significance and Therapeutic Potential of SERPINE1 in Head and Neck Squamous Cell Carcinoma by Changyu Zhu, Heshu Liu, Zhixin Li, Yijun Shi, Jingyang Zhao, Yuping Bai, Qian Chen, Wei Li

“…Methods and Results In this study, we delved into the variations in gene mutation, methylation patterns, and expression levels of SERPINE1 in head and neck squamous cell carcinoma (HNSCC) and normal tissues, leveraging comprehensive analyses of The Cancer Genome Atlas (TCGA) and Gene Expression Omnibus (GEO) datasets. …”
Get full text

Effects of Splenectomy on Spontaneously Chronic Pancreatitis in aly/aly Mice by Heng-Xiao Wang, Shuang-Qin Yi, Jun Li, Hayato Terayama, Munekazu Naito, Shuichi Hirai, Ning Qu, Nozomi Yi, Masahiro Itoh

“…Mice with alymphoplasia (aly/aly) mutation characterized by a lack of lymph nodes, Peyer's patches, and well-defined lymphoid follicles in the spleen were found. …”
Get full text

Current molecular understanding of central nervous system schwannomas by Takahiro Tsuchiya, Satoru Miyawaki, Yu Teranishi, Kenta Ohara, Yudai Hirano, Shotaro Ogawa, Seiei Torazawa, Yu Sakai, Hiroki Hongo, Hideaki Ono, Nobuhito Saito

“…The development of these tumors is primarily linked to mutations in the NF2 gene. Merlin, the protein encoded by NF2, is integral to several signaling pathways, including Ras/Raf/MEK/ERK, PI3K/Akt/mTORC1, Wnt/β-catenin, and the Hippo pathway. …”
Get full text

Development of source material for pea breeding through chemical mutagenesis and evaluation of its genetic diversity using SSR markers by K. P. Gainullina, B. R. Kuluev, F. A. Davletov

“…Sodium azide (NaN3) is a highly effective chemical mutagen successfully used in mutation breeding to increase the productivity of cultivated plants and enrich them with new useful traits. …”
Get full text

Elucidating the role of pyrimidine metabolism in prostate cancer and its therapeutic implications by Liang Huang, Yu Xie, Shusuan Jiang, Kan Liu, Zhihao Ming, Hong Shan

“…Abstract Our study aims to investigate the role of pyrimidine metabolism in prostate cancer and its associations with the immune microenvironment, drug sensitivity, and tumor mutation burden. Through transcriptomic and single-cell RNA sequencing analyses, we explored metabolic pathway enrichment, immune infiltration patterns, and differential gene expression in prostate cancer samples. …”
Get full text

Genetic variation in zona pellucida-3 (ZP3) gene and its association with litter size variation in Kari sheep by Izaz Ali, Muhammad Ibrahim, Sohail Ahmad, Sher Hayat Khan, Ihtesham Ul Haq, Ibrahim A. Alhidary, Rifat Ullah Khan, Naseer Khan Momand, Marco Ragni

“…Protein modelling suggested that the I101L mutation alters the binding site, potentially impacting protein function. …”
Get full text