Inhibitory Effects of a Novel PPAR-γ Agonist MEKT1 on Pomc Expression/ACTH Secretion in AtT20 Cells by Rehana Parvin, Erika Noro, Akiko Saito-Hakoda, Hiroki Shimada, Susumu Suzuki, Kyoko Shimizu, Hiroyuki Miyachi, Atsushi Yokoyama, Akira Sugawara

“…ACTH secretion from AtT20 cells was also significantly inhibited by MEKT1. Deletion/point mutant analyses of Pomc promoter indicated that the MEKT1-mediated suppression was mediated via NurRE, TpitRE, and NBRE at −404/-383, −316/-309, and −69/-63, respectively. …”
Get full text

In Vivo Evaluation of the Combined Anticancer Effects of Cisplatin and SAHA in Nonsmall Cell Lung Carcinoma Using [18F]FAHA and [18F]FDG PET/CT Imaging by Skye Hsin-Hsien Yeh, Ming Hsien Lin, I. I. Leo Garcia Flores, Uday Mukhopadhyay, Danial Young, Kazuma Ogawa, Jeong-Hwan Jeong, William Tong, Juri G. Gelovani, Nobuyoshi Fukumitsu

“…Moreover, SAHA had a more significant effect on the acetylome in PC14 (EGFR exon 19 deletion mutation) xenografts than H441 (wild-type EGFR and KRAS codon 12 mutant) xenografts. In conclusion, [18F] FAHA enables quantitative visualization of HDAC activity/expression in vivo, thus, may represent a clinically useful, noninvasive tool for the management of patients who may benefit from synergistic anticancer therapy.…”
Get full text

The Ubiquitin-Specific Protease 18 Promotes Hepatitis C Virus Production by Increasing Viral Infectivity by Yujia Li, Max Xuezhong Ma, Bo Qin, Liang-Tzung Lin, Christopher D. Richardson, Jordan Feld, Ian D. McGilvray, Limin Chen

“…Overexpression of wild-type (USP18 WT) or catalytically inactive mutant (USP18 C64S) USP18 was examined for effects on HCV replication in the absence and presence of IFNα or IFNλ using both the HCV-infective model and replicon cells. …”
Get full text

F-box protein Fbx23 acts as a transcriptional coactivator to recognize and activate transcription factor Ace1. by Zhongjiao Liu, Kexuan Ma, Panpan Zhang, Siqi Zhang, Xin Song, Yuqi Qin

“…Under cellulose signal, transcription levels of (hemi)cellulase genes in the Δfbx23 mutant are significantly upregulated. When PoFbx23 is present, PoAce1 exists as a full-length version and several low-molecular-weight degraded versions. …”
Get full text

Distal protein-protein interactions contribute to nirmatrelvir resistance by Eric M. Lewandowski, Xiujun Zhang, Haozhou Tan, Aiden Jaskolka-Brown, Navita Kohaal, Aliaksandra Frazier, Jesper J. Madsen, Lian M. C. Jacobs, Jun Wang, Yu Chen

“…To probe the role of the non-active site mutations in fitness rescue, here we use an Mpro triple mutant (L50F/E166A/L167F) that confers nirmatrelvir drug resistance with a viral fitness level similar to the wild-type. …”
Get full text

Phosphorylation-dependent WRN-RPA interaction promotes recovery of stalled forks at secondary DNA structure by Alessandro Noto, Pasquale Valenzisi, Flavia Di Feo, Federica Fratini, Tomasz Kulikowicz, Joshua A. Sommers, Benedetta Perdichizzi, Maurizio Semproni, Valentina Palermo, Marco Crescenzi, Robert M. Brosh Jr, Annapaola Franchitto, Pietro Pichierri

“…Using an unphosphorylable WRN mutant, which lacks the ability to bind RPA, we determine that the WRN-RPA complex plays a critical role in fork recovery after replication stress countering the persistence of G4 structures after fork stalling. …”
Get full text

Functional analysis of heterozygous variants in the SALL1 gene in 2 children with Townes-Brocks syndrome with FSGS by Rong Liang, Bixia Zheng, Chunli Wang, Sanlong Zhao, Wei Zhou, Ying Chen, Ruochen Che

“…To assess the functional impact of these variations, we introduced mutant plasmids carrying the c.3175 C > T and c.694 C > T variants into podocytes. …”
Get full text

Copy number amplification of FLAD1 promotes the progression of triple-negative breast cancer through lipid metabolism by Xiao-Qing Song, Tian-Jian Yu, Yang Ou-Yang, Jia-Han Ding, Yi-Zhou Jiang, Zhi-Ming Shao, Yi Xiao

“…Mechanistically, FLAD1, but not its enzymatically inactive mutant, upregulates the enzymatic activity of FAD-dependent lysine-specific demethylase 1 (LSD1). …”
Get full text

Clinical analysis of pulmonary mucosa-associated lymphoid tissue lymphoma coexisting with lung cancer by Heng Yang, Man-Hui Li, Qiu-Hong Li, Ke-Bin Cheng, Wei-Jun Cao

“…Five cases exhibited EGFR mutant, and one case showed no mutation. 13 patients were pathological confirmed with lung adenocarcinoma and one with microcarcinoma. …”
Get full text

Pharmacogenetics: Influence of CYP2C9*2 and *3 alleles polymorphisms on Iraqi type 2 diabetic patients by Ghada S. Rasool, Asmaa A. Hussien, Suhad R. Al-Tayie, Salwa J. Al-Awadi, Hussein OM Al-Dahmoshi

“…Statistically significant difference was found in mean HbA1c between the mutant and wild alleles group (P = 0.044). The mean HbA1c for those carrying the CYP2C9*2 and*3 alleles (n = 38) was 8.4750 compared to 9.3177 for those carrying the CYP2C9*1 allele (n = 75), which indicate better glycemic control. …”
Get full text

Case report: A rare case of a long-term survivor of glioblastoma who underwent two courses of hypofractionated radiotherapy as part of her care by Midhad Mrvoljak, Midhad Mrvoljak, Shubhendu Mishra, Liam Chen, Liam Chen, Elizabeth Neil, Elizabeth Neil, Eric Ehler, Stephanie Terezakis, Stephanie Terezakis, Lindsey Sloan, Lindsey Sloan

“…The patient is a 75-year-old woman who presented with progressive aphasia and was diagnosed with GB (WHO grade 4, IDH1/IDH2 wild type, ATRX intact, p53 and PTEN mutant, BRAF non-mutated, O6-methylguanine-DNA methyltransferase promoter methylated) and who underwent surgical resection, hypofractionated radiotherapy (HFRT) using intensity-modulated radiotherapy (IMRT) (4,005 cGy in 15 fractions) alone, and adjuvant temozolomide (TMZ). …”
Get full text

Parent-of-origin effects on nuclear chromatin organization and behavior in a Drosophila model for Williams–Beuren Syndrome by A. V. Medvedeva, E. V. Tokmatcheva, A. N. Kaminskaya, S. A. Vasileva, E. A. Nikitina, A. V. Zhuravlev, G. A. Zakharov, O. G. Zatsepina, E. V. Savvateeva-Popova

“…Recently, we have developed a Drosophila model for Williams–Beuren Syndrome (WBS): a mutant agnts3 of the agnostic locus (X:11AB) harboring the dlimk1 gene. …”
Get full text

Molecular biological research and molecular homologous modeling of Bw.03 subgroup by WANG Li, KONG Yongkui, JIN Huifang, LIU Xin, XIE Ying, LIU Xue, CHANG Yanli, WANG Yafang, YANG Shumiao, ZHU Di, YANG Qiankun

“…[Objective] To study the molecular biological mechanism for a case of ABO blood group B subtype, and perform three-dimensional modeling of the mutant enzyme. [Methods] The ABO phenotype was identified by the tube method and microcolumn gel method; the ABO gene of the proband was detected by sequence-specific primer polymerase chain reaction (PCR-SSP), and the exon 6 and 7 of the ABO gene were sequenced and analyzed. …”
Get full text

Implications of cytokine genes polymorphisms in Jordanian patients with obsessive compulsive disorder by Ahmad M. Khalil, Manal W. Khrais, Khaled M. Al-Qaoud, Mohamad Y. Al Ta’any

“…In contrast, the link between the gender and the occurrence of the mutant alleles of the other four SNPs IL-1β (− 511 C > T); IL-6 (− 174 G > C); IL-10 (− 1082 A > G); and IL-10 (− 819 C > T was more robust in the males OCD patients than the corresponding females. …”
Get full text

AcfA Regulates the Virulence and Cell Envelope Stress Response of <i>Vibrio parahaemolyticus</i> by Huan Liu, Huayu Lei, Juanjuan Cao, Zhaobang Xie, Yile Shi, Yanni Zhao

“…In this work, Δ<i>acfA</i>, an in-frame deletion mutant strain lacking the 4th to the 645th nucleotides of the open reading frame (ORF) of the <i>acfA</i> gene, and the complementary strain <i>acfA</i>⁺ were constructed to decipher the function of AcfA in <i>V. parahaemolyticus</i>. …”
Get full text

The Construction of Heterothallic Strains of <i>Komagataella kurtzmanii</i> Using the I-SceI Meganuclease by Daria D. Sokolova, Philipp I. Akentyev, Kristina O. Petrova, Lyudmila V. Lyutova, Aleksei A. Korzhenkov, Irek I. Gubaidullin, Stepan V. Toshchakov, Dmitry G. Kozlov

“…We then used transient expression of the SCE1 gene, encoding a recombinant I-SceI meganuclease, to induce site-specific cleavage of HIS4, followed by damage repair by homologous recombination in mutant cells. As a result, heterothallic strains designated ‘Y-727-2(alpha)’ and ‘Y-727-9(a)’, which correspond to the α and <b>a</b> mating type, respectively, were obtained. …”
Get full text

Liver GlucokinaseA456V Induces Potent Hypoglycemia without Dyslipidemia through a Paradoxical Induction of the Catalytic Subunit of Glucose-6-Phosphatase by Anna Vidal-Alabró, Alícia G. Gómez-Valadés, Andrés Méndez-Lucas, Jordi Llorens, Ramon Bartrons, Jordi Bermúdez, Jose C. Perales

“…Cell compartmentalization of the mutant but not the wild-type GK was clearly affected in vivo, demonstrating impaired GKRP regulation. …”
Get full text

Structure and function of a β-1,2-galactosidase from Bacteroides xylanisolvens, an intestinal bacterium by Yutaka Nakazawa, Masumi Kageyama, Tomohiko Matsuzawa, Ziqin Liang, Kaito Kobayashi, Hisaka Shimizu, Kazuki Maeda, Miho Masuhiro, Sei Motouchi, Saika Kumano, Nobukiyo Tanaka, Kouji Kuramochi, Hiroyuki Nakai, Hayao Taguchi, Masahiro Nakajima

“…However, when α-d-galactosyl fluoride (α-GalF) as a donor substrate and galactose or d-fucose as an acceptor substrate are incubated with a nucleophile mutant, reaction products are detected. The galactobiose produced from the α-GalF and galactose is identified as β-1,2-galactobiose using NMR. …”
Get full text

Design, theoretical approaches and new framework of pyrazolo[3,4-d]pyrimidine as potent anticancer agents: Efficient synthesis, ADME-T and molecular docking by Peduri Suresh Reddy, Thuraka Sekhar, Pinnu Thriveni, Gandla Mahesh Kumar, Allaka Tejeswara Rao, Mohammad Raish, Tota Giridhar, Gudipati Srinivasulu

“…The study shows how certain residues from the colorectal cancer mutant (1WCH) interact with each other in a way that is stable. …”
Get full text

The clinical role of blood coagulation and platelet receptors gene allelic variants in development of Wilson’s disease by T. P. Rozina, S. V. Fastovets, E. E. Starostina, L. M. Samokhodskaya, T. N. Krasnova

“…Conclusion. Carriage of mutant genotypes FII 20210 G/A, FV 1691G/A, PAI-675 5G/4G, ITGA2 807 C/T is the factor associated to the presence of neurological symptoms at Wilson's disease.…”
Get full text