Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease. by Magdaléna Neřoldová, Elżbieta Ciara, Janka Slatinská, Soňa Fraňková, Petra Lišková, Radana Kotalová, Janka Globinovská, Markéta Šafaříková, Lucie Pfeiferová, Hana Zůnová, Lenka Mrázová, Viktor Stránecký, Alena Vrbacká, Ondřej Fabián, Eva Sticová, Daniela Skanderová, Jan Šperl, Marta Kalousová, Tomáš Zima, Milan Macek, Joanna Pawlowska, A S Knisely, Stanislav Kmoch, Milan Jirsa

“…Whereas phenotypes of the index patients with mutated PKHD1, TMEM67, and PPOX corresponded with those elsewhere reported, how F11R variation underlies liver disease remains unclear. …”
Get full text

BRCA1 is involved in sustaining rapid antler growth possibly via balancing of the p53/endoplasmic reticulum stress signaling pathway by Qianqian Guo, Zhen Wang, Jiping Li, Chao Ma, Junjun Zheng, Hengxing Ba, Guokun Zhang, Chunyi Li

“…However, even subtle mutations in proliferating cells may cause detrimental effects by eliciting abnormal differentiation. …”
Get full text

Whole-genome sequencing-based characterization of Salmonella enterica Serovar Enteritidis and Kentucky isolated from laying hens in northwest of Iran, 2022–2023 by Shirin Vakili, Mehri Haeili, Adel Feizi, Kiarash Moghaddasi, Maryam Omrani, Arash Ghodousi, Daniela Maria Cirillo

“…Other identified antimicrobial resistance genes (ARGs) including tetA, floR, sul1, dfrA1, aph(3′)-Ia and double gyrA and parC mutations conferring high-level ciprofloxacin resistance (CIPR) (MIC ≥ 16mg/L) were only found in S. …”
Get full text

Non-cancerous CT findings as predictors of survival outcome in advanced non-small cell lung cancer patients treated with first-generation EGFR-TKIs. by Pakorn Prakaikietikul, Pattraporn Tajarenmuang, Phumiphat Losuriya, Natee Ina, Thanika Ketpueak, Thanat Kanthawang

“…<h4>Conclusion</h4>In advanced EGFR-mutated NSCLC patients, assessing pre-treatment prognosis is warranted to predict the survival outcome and guide decision regarding EGFR-TKI therapy. …”
Get full text

Unusual hypertrophic cardiomyopathy: case report of an early onset wild-type ATTR amyloidosis accompanied by a chromosomal duplication involving the MYH6 and MYH7 gene by Jassin Hamidi, Yvonne Hanel, Sven Dittmann, Wanda Maria Gerding, Huu Phuc Nguyen, Karin Klingel, Eric Schulze-Bahr

“…This highlights the extreme rarity of this condition, making it challenging to ascertain the extent to which a presumably mutated hybrid myosin gene construct or the TTR amyloid fibrils contribute to stiffness, tissue fibrosis, and cardiac dysfunction. …”
Get full text

A Nomogram Built on Clinical Factors and CT Attenuation Scores for Predicting Treatment Response of Acute Myeloid Leukemia Patients by Linna Liu, Wenzheng Lu, Li Xiong, Han Qi, Robert Peter Gale, Bin Yin

“…While clinical factors such as age and genetic mutations contribute to prognosis, recent studies suggest that CT attenuation scores may also predict treatment outcomes. …”
Get full text

Inhibitory Mechanism of Robiotic Bacteria on The Growth of Vibrio harveyi in Tiger Shrimp (Penaeus monodon) Larvae by . Widanarni, E. Ayuzar, . Sukenda

“… Three probiotics named SKT-b, 1Ub, and Ua had inhibitory activity against the growth of Vibrio harveyi. These strains were mutated by rifampicin resistant. The inhibitory effect of SKT-b,1Ub, and Ua on the growth of V. harveyi was investigated by concomitant incubation of the two bacteria in a culture shrimp larvae. …”
Get full text

Establishment and characterization of a new mouse gastric carcinoma cell line, MCC by Yushen Wang, Xianju Li, Yi Wang, Jun Qin

“…Genomic and proteomic analyses identified mutations frequently observed in clinical gastric cancer patients, such as Kras, Egfr, and Ccnd3. …”
Get full text

Obstacle recognition and elimination method for humanoid robots based on point cloud processing by Naigong YU, Qiusheng XIE, Hongzheng LI

“…Subsequently, the plane is constructed, and obstacles are eliminated by analyzing point mutations within the plane. In this study, obstacle elimination experiments were conducted using data from various obstacle-impaired staircases of inaccessible types. …”
Get full text

Integrated analysis of cell cycle and p53 signaling pathways related genes in breast, colorectal, lung, and pancreatic cancers: implications for prognosis and drug sensitivity for... by Jiyauddin Khan, Priyanjana Ghosh, Urmi Bajpai, Kountay Dwivedi, Daman Saluja

“…Cancer progression often involves disruption in cell cycle regulation and signaling pathways, with mutations in genes like TP53, EGFR, and K-RAS playing significant roles. …”
Get full text

Genetic trends and common BRCA1/2 pathogenic sequence variants in black African and Indian breast cancer patients presenting at Inkosi Albert Luthuli Central Hospital, KwaZulu-Nata... by M Makhetha, C Aldous, N Chabilal

“…None of the founder mutations common in white patients was reported in either black, Indian or coloured patients, which explains why black, Coloured and Indian SA patients consistently test negative during targeted screening. …”
Get full text

SLC22A1 rs622342 Polymorphism Predicts Insulin Resistance Improvement in Patients with Type 2 Diabetes Mellitus Treated with Metformin: A Cross-Sectional Study by Kunrong Wu, Xiaoli Li, Yuedong Xu, Xiaoqian Zhang, Ziwan Guan, Shufang Zhang, Yan Li

“…Organic cation transporter 1 (encoded by SLC22A1) is responsible for the transport of metformin, and ataxia-telangiectasia-mutated (ATM) is a gene relating to the DNA repair and cell cycle control. …”
Get full text

VCP regulates early tau seed amplification via specific cofactors by Sushobhna Batra, Jaime Vaquer-Alicea, Clarissa Valdez, Skyler P. Taylor, Victor A. Manon, Anthony R. Vega, Omar M. Kashmer, Sourav Kolay, Andrew Lemoff, Nigel J. Cairns, Charles L. White, Marc I. Diamond

“…VCP harbors dominant mutations that underlie two neurodegenerative diseases, multisystem proteinopathy and vacuolar tauopathy, but its mechanistic role is unclear. …”
Get full text

Importance of benzoyltransferase GcnE and lysine benzoylation of alcohol dehydrogenase AdhB in pathogenesis and aflatoxin production in Aspergillus flavus by Xuan Chen, Lihan Wu, Yuqi Zhang, Sen Wang, Shihua Wang

“…Our data demonstrated that alcohol dehydrogenase B (AdhB) is regulated by benzoylation on lysine 321 (K321), and mutations of Kbz site in AdhB significantly reduced the alcohol dehydrogenase activity in vivo and in vitro. …”
Get full text

A rare haplotype of the GJD3 gene segregating in familial Meniere’s disease interferes with connexin assembly by Alba Escalera-Balsera, Paula Robles-Bolivar, Alberto M. Parra-Perez, Silvia Murillo-Cuesta, Han Chow Chua, Lourdes Rodríguez-de la Rosa, Julio Contreras, Ewa Domarecka, Juan Carlos Amor-Dorado, Andrés Soto-Varela, Isabel Varela-Nieto, Agnieszka J. Szczepek, Alvaro Gallego-Martinez, Jose A. Lopez-Escamez

“…Abstract Background Familial Meniere’s disease (FMD) is a rare polygenic disorder of the inner ear. Mutations in the connexin gene family, which encodes gap junction proteins, can also cause hearing loss, but their role in FMD is largely unknown. …”
Get full text

On the substrate turnover rate of NBCe1 and AE1 SLC4 transporters: structure-function considerations by Alexander Pushkin, Liyo Kao, Hristina R. Zhekova, Rustam Azimov, Natalia Abuladze, Xuesi M. Shao, D. Peter Tieleman, Ira Kurtz, Ira Kurtz

“…Here we report TOR measurements of the electrogenic Na+-CO32− cotransporter NBCe1-A (SLC4A4) and the kidney specific AE1 splice variant, kAE1, that play important roles in renal bicarbonate absorption and are mutated in proximal and distal renal tubular acidosis respectively. …”
Get full text

Systematic multiomics analysis and in vitro experiments suggest that ITGA5 could serve as a promising therapeutic target for ccRCC by Xiangxian Che, Xi Tian, Zhenda Wang, Shuxuan Zhu, Shiqi Ye, Yue Wang, Yihan Chen, Yiyun Huang, Aihetaimujiang Anwaier, Peifeng Yao, Yijia Chen, Keting Wu, Yifei Liu, Wenhao Xu, Hailiang Zhang, Dingwei Ye

“…As tumorigenesis of ccRCC was tightly relevant with several mutant genes, we investigated the correlation between ITGA5 expression and frequent mutations and found ITGA5 upregulation in VHL mutant ccRCC (P = 0.016). …”
Get full text

Hepatitis B Virus-KMT2B Integration Drives Hepatic Oncogenic Processes in a Human Gene-edited Induced Pluripotent Stem Cells-derived ModelSummary by Jun Tsuchiya, Masato Miyoshi, Sei Kakinuma, Fukiko Kawai-Kitahata, Akihide Kamiya, Taro Shimizu, Ayako Sato, Keiya Watakabe, Tomohiro Mochida, Kento Inada, Rion Kamimae, Shun Kaneko, Miyako Murakawa, Sayuri Nitta, Mina Nakagawa, Mamoru Watanabe, Yasuhiro Asahina, Ryuichi Okamoto

“…To exclude the effect of other oncogenic mutations, we reproduced HBV integration in healthy donor iPSCs with an intact genome and analyzed its effects using iPSC-derived hepatic progenitor cells (HPCs) and hepatocytes (iPS-Heps). …”
Get full text

Association of ERAP1 and ERAP2 gene polymorphisms and ERAP2 protein with the susceptibility and severity of rheumatoid arthritis in the Ukrainian population by Iryna Kril, Iryna Kril, Andrzej Wiśniewski, Agnieszka Tarnowska, Khrystyna Lishchuk-Yakymovych, Yaryna Bojko, Piotr Kuśnierczyk, Valentyna V. Chopyak, Izabela Nowak

“…ERAP1 rs26653 and ERAP2 rs2248374 were also associated with the Disease Activity Score (DAS28), and some polymorphisms were also associated with anti-citrullinated protein or anti-mutated citrullinated vimentin antibodies. RA patients secreted higher concentrations of ERAP2 than controls. …”
Get full text

Mesenchymal stromal cells promote the formation of lung cancer organoids via Kindlin-2 by Zhilin Sui, Xianxian Wu, Jiaxin Wang, ShihJye Tan, Chao Zhao, Zhentao Yu, Chuanyue Wu, Xiaoxiao Wang, Ling Guo

“…We evaluated whether LCOs co-cultured with fibroblast retained the original genetic mutations of their source tumors based on WES. RNA sequencing was used to analyze the differences in gene expression profiles between LCOs co-cultured with fibroblast and paracancerous organoids (POs). …”
Get full text