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. …”
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

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

Simultaneous non-contrast assessment of cardiac microstructure and perfusion in vivo in the human heart by Camila Munoz, Eunji Lim, Pedro F. Ferreira, Dudley J. Pennell, Sonia Nielles-Vallespin, Andrew D. Scott

“…STEAM-IVIM imaging was performed at 20 b-values (0 to 1000 s/mm2) to enable accurate estimation of the IVIM parameters, and with six diffusion encoding directions to enable reconstruction of the diffusion tensor. 20 healthy subjects (8 female, median age 31 years) were imaged on a clinical 3T system with STEAM-IVIM. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

METTL1 mediates PKM m7G modification to regulate CD155 expression and promote immune evasion in colorectal cancer by Fang Wang, Chen Yang, Fang Zheng, Yang Yan, Guifang Li, Yanyan Feng, Hejia Xu, Zilong He, Dongyan Cai, Hairong Sun, Xiaowei Qi, Yong Mao

“…Specifically, METTL1 mediates m7G methylation of PKM mRNA and enhances the expression of its encoded PKM2, which in turn enhances glycolysis, promotes H3K9la, and activates METTL1 transcription, creating a positive feedback loop. …”
Get full text

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. …”
Get full text

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. …”
Get full text

PPARGC1A regulates transcriptional control of mitochondrial biogenesis in early bovine embryos by Muhammad Idrees, Muhammad Idrees, Zaheer Haider, Chalani Dilshani Perera, Safeer Ullah, Seo-Hyeon Lee, Seung Eun Lee, Sung-Sik Kang, Sung Woo Kim, Il-Keun Kong, Il-Keun Kong, Il-Keun Kong

“…PGC-1α regulates transcription of the gene encoding mitochondrial transcription factor A (TFAM), and immunofluorescence analysis indicated significantly lower TFAM expression in the 16-cell KD embryos and day-8 KD blastocysts. …”
Get full text

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.…”
Get full text

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. …”
Get full text

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. …”
Get full text

The dynamin-related protein PfDyn2 is essential for both apicoplast and mitochondrial fission in Plasmodium falciparum by Alexander A. Morano, Wei Xu, Francesca M. Navarro, Neeta Shadija, Jeffrey D. Dvorin, Hangjun Ke

“…Plasmodium falciparum encodes three dynamin-like proteins whose functions are poorly understood. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text