Characterization and structural analysis of a versatile aromatic prenyltransferase for imidazole-containing diketopiperazines by Wenxue Wang, Peng Wang, Chuanteng Ma, Kang Li, Zian Wang, Yuting Liu, Lu Wang, Guojian Zhang, Qian Che, Tianjiao Zhu, Yuzhong Zhang, Dehai Li

“…In this work, we also characterize a case of AuraA mutant-catalyzed dimethylallylation of imidazole moiety, offering available structural insights into the utilization and engineering of dimethylallyl tryptophan synthase family prenyltransferases.…”
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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. …”
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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). …”
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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. …”
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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. …”
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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). …”
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An approach to predict and inhibit Amyloid Beta dimerization pattern in Alzheimer’s disease by Sreekanya Roy, Sima Biswas, Anirban Nandy, Dipanjan Guha, Rakhi Dasgupta, Angshuman Bagchi, Parames Chandra Sil

“…In this study, we selected a few significant mutations present in the Aβ stretch of the APP and tried to differentiate the wild-type Aβ dimers formed in sAD and the mutant dimers formed in fAD through molecular modelling as there are no structures available from wet-lab studies till date. …”
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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. …”
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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. …”
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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. …”
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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>. …”
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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. …”
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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. …”
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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. …”
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Bioinformatics and Expression Profiling of the DHHC-CRD S-Acyltransferases Reveal Their Roles in Growth and Stress Response in Woodland Strawberry (<i>Fragaria vesca</i>) by Si Gu, Xinghua Nie, Amal George, Kyle Tyler, Yu Xing, Ling Qin, Baoxiu Qi

“…A complementation assay in yeast PAT mutant <i>akr1</i> and auto-S-acylation assay of one FvPAT (FvPAT19) confirmed its enzyme activity where the Cys in the DHHC motif was required. …”
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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. …”
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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.…”
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Middle East respiratory syndrome coronavirus (MERS-CoV) internalization does not rely on DPP4 cytoplasmic tail signaling by Karthika Thankamani, Divakar Shubham, Gayatri Kandpal, Ann Mary Isaac, Modenkattil Sethumadhavan Kavitha, V. Stalin Raj

“…Furthermore, HEK293T cells transiently expressing DPP4 mutants were permeable to MERS-CoV pseudovirus infection. …”
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Calcium Activation of the Androgen Receptor in Prostate Cells by Zeina W. Sharawi, Sawsan M. Khatrawi, Qiaochu Wang, Hongzhao Zhou, Kedra Cyrus, Gai Yan, Becky Hoxter, Bassem R. Haddad, Mary Beth Martin

“…In LNCaP cells which contain a mutant AR, treatment with calcium also increased the expression of androgen-responsive genes by approximately 3-fold, and the increase was more effectively blocked by enzalutamide than by hydroxyflutamide or bicalutamide. …”
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KIF5A regulates axonal repair and time-dependent axonal transport of SFPQ granules and mitochondria in human motor neurons by Irune Guerra San Juan, Jessie W. Brunner, Kevin Eggan, Ruud F. Toonen, Matthijs Verhage

“…Here, we generated KIF5Anull mutant human motor neurons and analyzed the impact on axonal transport and motor neuron outgrowth and regeneration in vitro. …”
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