Phosphorylation of Bok at Ser-8 blocks its ability to suppress IP3R-mediated calcium mobilization by Caden G. Bonzerato, Katherine R. Keller, Richard J. H. Wojcikiewicz

“…Also, using mammalian cells that exclusively or predominately express IP3R1, to which Bok binds strongly, and a fluorescent Ca2+-sensitive dye or a genetically-encoded Ca2+ sensor, we explored how endogenous and exogenous Bok controls the Ca2+ mobilizing function of IP3R1, and whether Bok phosphorylation at Ser-8, or replacement of Ser-8 with a phosphomimetic amino acid, is regulatory. …”
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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. …”
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Oxidative and Excitatory Neurotoxic Stresses in CRISPR/Cas9-Induced Kynurenine Aminotransferase Knockout Mice: A Novel Model for Despair-Based Depression and Post-Traumatic Stress... by Ágnes Szabó, Zsolt Galla, Eleonóra Spekker, Mónika Szűcs, Diána Martos, Keiko Takeda, Kinuyo Ozaki, Hiromi Inoue, Sayo Yamamoto, József Toldi, Etsuro Ono, László Vécsei, Masaru Tanaka

“…The majority of KYNA is produced by the aadat (kat2) gene-encoded mitochondrial kynurenine aminotransferase (KAT) isotype 2. …”
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Development and validation of a novel artificial intelligence algorithm for precise prediction the postoperative prognosis of esophageal squamous cell carcinoma by Zichen Wang, Zhihan Xiao, Tongyu Zhang, Meiyou Lu, Hai Li, Jing Cao, Jianan Zheng, Yichan Zhou, Juncheng Dai, Cheng Wang, Liang Chen, Jing Xu

“…In addition, the top-ranking CTG HENMT1 encodes 2’-O-methyltransferase of piRNAs that was confirmed positively correlated with the proliferation capacity of ESCC cells. …”
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Annotation and characterization of immunoglobulin loci and CDR3 polymorphism in water buffalo (Bubalus bubalis) by Yunlan Deng, Fengli Wu, Fengli Wu, Qianqian Li, Lidie Yao, Chengzhi Yang, Long Ma, Xinsheng Yao, Jun Li

“…IntroductionImmunoglobulin (Ig) refers to the nomenclature for all antibody proteins produced by B lymphocytes. The genetic locus encoding Ig is critical for vertebrate humoral immune responses and diverse antibody repertoires. …”
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Elite Alleles of EPE1 Identified via Genome-wide Association Studies Increase Panicle Elongation Length in Rice by Hao Sun, Qiqi Yao, Mei Hai, Tianhu Li, Jinghan Sun, Zhengbo Liu, Yang Ang, Yingying Zhao, Yanan Zhang, Xianping Cheng, Tao Huang, Yinping Chang, Mingyu Du, Erbao Liu

“…We characterize one gibberellin (GA)-related gene, LOC_Os02g41954 (OsGA2ox9), which encodes gibberellin 2-beta-dioxygenase 7 located in the cell membrane and nucleus. …”
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Modeling the determinants of attrition in a two-stage epilepsy prevalence survey in Nairobi using machine learning by Daniel M. Mwanga, Isaac C. Kipchirchir, George O. Muhua, Charles R. Newton, Damazo T. Kadengye, Abankwah Junior, Albert Akpalu, Arjune Sen, Bruno Mmbando, Charles R. Newton, Cynthia Sottie, Dan Bhwana, Daniel Mtai Mwanga, Damazo T. Kadengye, Daniel Nana Yaw, David McDaid, Dorcas Muli, Emmanuel Darkwa, Frederick Murunga Wekesah, Gershim Asiki, Gergana Manolova, Guillaume Pages, Helen Cross, Henrika Kimambo, Isolide S. Massawe, Josemir W. Sander, Mary Bitta, Mercy Atieno, Neerja Chowdhary, Patrick Adjei, Peter O. Otieno, Ryan Wagner, Richard Walker, Sabina Asiamah, Samuel Iddi, Simone Grassi, Sloan Mahone, Sonia Vallentin, Stella Waruingi, Symon Kariuki, Tarun Dua, Thomas Kwasa, Timothy Denison, Tony Godi, Vivian Mushi, William Matuja

“…Categorical variables were one-hot encoded, class imbalance was addressed using synthetic minority over-sampling technique (SMOTE) and numeric variables were scaled and centered. …”
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Developmental dysfunction in a preclinical model of Kcnq2 developmental and epileptic encephalopathy by Miaomiao Mao, Nikola Jancovski, Yafit Kushner, Lucas Teasdale, Phan Truong, Kun Zhou, Samuel Reid, Linghan Jia, Ye Htet Aung, Melody Li, Christopher A. Reid, Sean Byars, Ingrid Scheffer, Steven Petrou, Snezana Maljevic

“…Genetic variants are the most common cause of DEE with KCNQ2 being one of the most frequently identified disease-causing genes. KCNQ2 encodes a voltage-gated potassium channel KV7.2 widely expressed in the central nervous system and critically involved in the regulation of neuronal excitability. …”
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Endothelial and neuronal engagement by AAV-BR1 gene therapy alleviates neurological symptoms and lipid deposition in a mouse model of Niemann-Pick type C2 by Charlotte Laurfelt Munch Rasmussen, Signe Frost Frederiksen, Christian Würtz Heegaard, Maj Schneider Thomsen, Eva Hede, Bartosz Laczek, Jakob Körbelin, Daniel Wüstner, Louiza Bohn Thomsen, Markus Schwaninger, Ole N. Jensen, Torben Moos, Annette Burkhart

“…We hypothesized that an adeno-associated virus (AAV-BR1) encoding the Npc2 gene could cure neurological symptoms in Npc2−/− mice through transduction of BECs, and possibly neurons via viral passage across the BBB. …”
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First genome-scale insights into the virulence of the snow mold causal fungus Microdochium nivale by Ivan Tsers, Ekaterina Marenina, Azat Meshcherov, Olga Petrova, Olga Gogoleva, Alexander Tkachenko, Natalia Gogoleva, Yuri Gogolev, Evgenii Potapenko, Olga Muraeva, Mira Ponomareva, Viktor Korzun, Vladimir Gorshkov

“…In our study, we applied a hybrid assembly based on Oxford Nanopore and Illumina reads to obtain the first genome sequence of M. nivale. 11,973 genes (including 11,789 protein-encoding genes) have been revealed in the genome assembly. …”
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Russian Science Foundation grant No. 20-14-00140 supported this study. The authors are thankful to the multi-access Center “Bioinformatics” for the use of computational resources a... by O. V. Vishnevsky, I. V. Chadaeva, E. B. Sharypova, B. M. Khandaev, K. A. Zolotareva, A. V. Kazachek, P. M. Ponomarenko, N. L. Podkolodny, D. A. Rasskazov, E. V. Zemlyanskaya, A. G. Bogomolov, O. A. Podkolodnaya, L. K. Savinkova, M. P. Ponomarenko

“…This evidence suggests that in the past humans carried out selective breeding to reduce the expression of food plant genes encoding these allergenic proteins.…”
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Rescue of in vitro models of CSF1R-related adult-onset leukodystrophy by iluzanebart: mechanisms and therapeutic implications of TREM2 agonism by Kelley C. Larson, Frederick W. Gergits, Abigail J. Renoux, Elizabeth J. Weisman, Borislav Dejanovic, Liyue Huang, Bhaumik Pandya, Donald G. McLaren, Berkley A. Lynch, Richard Fisher, Evan Thackaberry, David Gray, Francois Gaudreault, Christian Mirescu

“…CSF1R-ALSP is caused by heterozygous loss-of-function mutations in the colony stimulating factor 1 receptor (CSF1R) gene, which encodes a receptor required for the differentiation of myeloid cells, as well as for microglial survival and proliferation. …”
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Effect of gonadectomy and estradiol on the expression of insulin signaling cascade genes in female and male mice by T. V. Iakovleva, N. E. Kostina, E. N. Makarova, N. M. Bazhan

“…Estradiol is a steroid hormone, and its effect is due to the modulation of target gene expression, but the effect of estradiol on the expression of genes encoding insulin signal transduction and glucose transport has not been sufficiently studied. …”
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Sequence-structure based prediction of pathogenicity for amino acid substitutions in proteins associated with primary immunodeficiencies by Ekaterina S. Porfireva, Anton D. Zadorozhny, Anastasia V. Rudik, Dmitry A. Filimonov, Alexey A. Lagunin, Alexey A. Lagunin

“…In this study, we have developed classification sequence-structure-property relationships (SSPR) models for predicting the pathogenicity of amino acid substitutions (AAS) in 25 proteins associated with the most important and genetically studied PIDs and encoded genes: IL2RG, JAK3, RAG1, RAG2, ADA, DCLRE1C, CD40LG, WAS, ATM, STAT3, KMT2D, BTK, FOXP3, AIRE, FAS, ELANE, ITGB2, CYBB, G6PD, GATA2, STAT1, IFIH1, NLRP3, MEFV, and SERPING1.MethodsThe data on 4825 pathogenic and benign AASs in the selected proteins were extracted from ClinVar and gnomAD. …”
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The Rickettsia actin-based motility effectors RickA and Sca2 contribute differently to cell-to-cell spread and pathogenicity by Cuong J. Tran, Zahra Zubair-Nizami, Ingeborg M. Langohr, Matthew D. Welch

“…We further compared the roles of RickA and Sca2 in vivo following intradermal (i.d.) infection of Ifnar1−/−; Ifngr1−/− mice carrying knockout mutations in the genes encoding the receptors for IFN-I (Ifnar1) and IFN-γ (Ifngr1), which exhibit eschars and succumb to infection with wild-type (WT) R. parkeri. …”
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Dissemination of Staphylococcus epidermidis in Swedish bovine dairy herds: minimal overlap with human isolates by Karin Persson Waller, Mattias Myrenås, Hyeyoung Kim, Micael Widerström, Tor Monsen, Stefan Börjesson, Stefan Börjesson, Stefan Börjesson, Emma Östlund, Wonhee Cha

“…The primary aim of this study was to assess the genetic relatedness of S. epidermidis isolates from bovine subclinical mastitis (SCM), bovine milk filters, healthy dairy farmers or farm personnel, and human hospital patients in Sweden, and to detect and compare genes encoding antimicrobial resistance (AMR) and virulence factors. …”
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Brain connectivity for constructing new face representations in typical adults versus a prosopagnosic patient by Ela I. Olivares, Jorge F. Bosch-Bayard, Ana S. Urraca, Alba Jiménez-Bascuñán, Rolando J. Biscay, Jaime Iglesias

“…Interestingly, the pattern of connections that distinguished typical participants from E.C. in the I-E sequence was the recruitment of left posterior visual regions, presumably underlying analytical subroutines for structural encoding of facial stimuli. These findings support that initial exposure to external features, followed by internal ones, provides the best visual cue to acquire new face configurations. …”
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Structural and functional features of phytoene synthase isoforms PSY1 and PSY2 in pepper Capsicum annuum L. cultivars by E. A. Dyachenko, M. A. Filyushin, G. I. Efremov, E. A. Dzhos, A. V. Shchennikova, E. Z. Kochieva

“…A key regulator of carotenoid biosynthesis is the phytoene synthase encoded by the PSY gene. The Capsicum annuum genome contains two isoforms of this enzyme, localized in leaf (PSY2) and fruit (PSY1) plastids. …”
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Structural variability of sunflower gene for methionine-rich albumin SFA8 by I. N. Anisimova, N. V. Alpatieva, S. V. Goryunova, D. V. Goryunov, Al. V. Konarev, V. A. Gavrilova, E. E. Radchenko

“…The line VIR 130 in which the two expressing SFA8 proteins, the normal polypeptide with isoelectric point (pI) approximately 6.0 (normal SFA8) and its allelic variant with pI 6.5 (variant SFA8) have been earlier revealed possesses two types of the SFA8 encoding sequence. In one sequence the substitution 108С—G is present that results in the substitution of the polar uncharged amino acid serine for the positively charged arginine and respectively in alteration of the protein charge and isoelectric point. …”
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Association between ABCB4 variants and intrahepatic cholestasis of pregnancy by Dekun Zhang, Yuhong Li, Shufeng He, Jing Shu, Tiechen Li, Qing Sun

“…Abstract The ABCB4 gene encodes multidrug resistance protein 3(MDR3), which is a phosphatidylcholine(PC) transfer enzyme that transfers lecithin from the inner part of the phospholipid bilayer to the extracellular bile. …”
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