Open-Label Fosmetpantotenate, a Phosphopantothenate Replacement Therapy in a Single Patient with Atypical PKAN by Yiolanda-Panayiota Christou, George A. Tanteles, Elena Kkolou, Annita Ormiston, Kostas Konstantopoulos, Maria Beconi, Randall D. Marshall, Horacio Plotkin, Kleopas A. Kleopa

“…PKAN is caused by biallelic PANK2 mutations, a gene that encodes pantothenate kinase 2, a regulatory enzyme in coenzyme A biosynthesis. …”
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Association of PTPN22 Haplotypes (−1123G>C/+1858C>T) with Rheumatoid Arthritis in Western Mexican Population by Yeniley Ruiz-Noa, Jorge Ramón Padilla-Gutiérrez, Jorge Hernández-Bello, Claudia Azucena Palafox-Sánchez, Yeminia Valle, Edith Oregón-Romero, Ana Laura Pereira-Suárez, Ana Guilaisne Bernard-Medina, José Francisco Muñoz-Valle

“…Two polymorphic variants (−1123G>C and +1858C>T) at PTPN22 gene that encodes this protein have been associated with autoimmune disorders and found in strong linkage disequilibrium in Caucasian population. …”
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Genome Mining and Characterization of Two Novel <i>Lacticaseibacillus rhamnosus</i> Probiotic Candidates with Bile Salt Hydrolase Activity by Gianluigi Agolino, Marianna Cristofolini, Amanda Vaccalluzzo, Davide Tagliazucchi, Alice Cattivelli, Alessandra Pino, Cinzia Caggia, Lisa Solieri, Cinzia Lucia Randazzo

“…Each strain harbors a single <i>bsh</i> gene, encoding a C-N amide hydrolase, which conserved the essential residues required in the BSH core site. …”
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Immune Dysfunction in Rett Syndrome Patients Revealed by High Levels of Serum Anti-N(Glc) IgM Antibody Fraction by Anna Maria Papini, Francesca Nuti, Feliciana Real-Fernandez, Giada Rossi, Caterina Tiberi, Giuseppina Sabatino, Shashank Pandey, Silvia Leoncini, Cinzia Signorini, Alessandra Pecorelli, Roberto Guerranti, Solange Lavielle, Lucia Ciccoli, Paolo Rovero, Claudio De Felice, Joussef Hayek

“…Rett syndrome (RTT), a neurodevelopmental disorder affecting exclusively (99%) female infants, is associated with loss-of-function mutations in the gene encoding methyl-CpG binding protein 2 (MECP2) and, more rarely, cyclin-dependent kinase-like 5 (CDKL5) and forkhead box protein G1 (FOXG1). …”
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Functional study on the regulation of adventitious root formation by PpSAT4 gene in peach rootstock ‘GF 677’ by HAO Lanlan, WANG Hong, ZHANG Fan, ZHANG Xuebing, YANG Yang

“…[Results] (1) Peach PpSAT4 gene with a sequence of 864 bp was cloned, encoding a protein with a molecular weight of 30.49 kD and an isoelectric point of 6.70. …”
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The biogenesis, regulation and functions of transitive siRNA in plants by Tan Huijun, Liu Yuelin, Guo Hongwei

“…As core molecules of RNAi, various sRNAs are encoded in the plant genome or derived from invading RNA molecules, and their biogenesis depends on distinct genetic pathways. …”
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Deterministic genetic barcoding for multiplexed behavioral and single-cell transcriptomic studies by Jorge Blanco Mendana, Margaret Donovan, Lindsey Gengelbach O'Brien, Benjamin Auch, John Garbe, Daryl M Gohl

“…This method, called Targeted Genetically-Encoded Multiplexing (TaG-EM), involves inserting a DNA barcode just upstream of the polyadenylation site in a Gal4-inducible UAS-GFP construct so that the barcode sequence can be read out during single-cell sequencing, labeling a cell population of interest. …”
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Scent of COVID-19: Whole-Genome Sequencing Analysis Reveals the Role of <i>ACE2</i>, <i>IFI44</i>, and <i>NDUFAF4</i> in Long-Lasting Olfactory Dysfunction by Beatrice Spedicati, Alessandro Pecori, Maria Pina Concas, Aurora Santin, Romina Ruberto, Giuseppe Giovanni Nardone, Andrea D’Alessandro, Giancarlo Tirelli, Paolo Boscolo-Rizzo, Giorgia Girotto

“…Considering the physiological role of the proteins encoded by these genes, it can be hypothesized that a reduced expression of <i>ACE2</i> may be associated with a protracted and severe inflammatory response in the olfactory epithelium, thus worsening patients’ smell abilities. …”
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Curcumin Prevents Free Fatty Acid-Induced Lipid Accumulation via Targeting the miR-22-3p/ CRLS1 Pathway in HepG2 Cells by Yuanyuan Mei, Xiaoting Sun, Shi-Ying Huang, Xiaowen Wu, Kuo-Ting Ho, Liming Lu, Chaoxiang Chen, Jian Li, Jingwen Liu, Guiling Li

“…And 48 h overexpression of miR-22-3p targeting cardiolipin synthase 1 ( CRLS1 ) gene, which encodes a mitochondrial phospholipid synthase, showed a similar regulatory effect. …”
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Clinical characteristics of female Fabry disease patients with hypertrophic cardiomyopathy with mid-ventricular obstruction by Natsuko Inagaki, Yasuyoshi Takei, Tsuguhisa Hatano, Yasuyuki Takada, Yoshinao Yazaki, Hisanori Kosuge, Masatake Kobayashi, Shinji Suzuki, Tomohiro Umezu, Masahiko Kuroda, Kazuhiro Satomi, Takeharu Hayashi

“…Fabry disease (FD) is an X-linked lysosomal storage disease caused by mutations in GLA, which encodes α-galactosidase A (GLA). The loss or reduced activity of GLA leads to damage to multiple organs, resulting in the intracellular accumulation of globotriaosylceramide in various organs, including the heart, kidneys, and nervous system. …”
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Transcription factor DREF regulates expression of the microRNA gene <i>bantam in Drosophila melanogaster</i> by M. B.  Schwartz, M. M. Prudnikova, O. V. Andreenkov, E. I. Volkova, I. F. Zhimulev, O. V. Antonenko, S.  A. Demakov

“…The bantam gene encodes a vital microRNA and has a complex expression pattern in various tissues at different stages of Drosophila development. …”
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Centrosome amplification and aneuploidy driven by the HIV-1-induced Vpr•VprBP•Plk4 complex in CD4+ T cells by Jung-Eun Park, Tae-Sung Kim, Yan Zeng, Melissa Mikolaj, Jong Il Ahn, Muhammad S. Alam, Christina M. Monnie, Victoria Shi, Ming Zhou, Tae-Wook Chun, Frank Maldarelli, Kedar Narayan, Jinwoo Ahn, Jonathan D. Ashwell, Klaus Strebel, Kyung S. Lee

“…Abstract HIV-1 infection elevates the risk of developing various cancers, including T-cell lymphoma. Whether HIV-1-encoded proteins directly contribute to oncogenesis remains unknown. …”
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Exploring <i>RNF213</i> in Ischemic Stroke and Moyamoya Disease: From Cellular Models to Clinical Insights by Benjamin Y. Q. Tan, Charlene H. P. Kok, Megan B. J. Ng, Shaun Loong, Eric Jou, Leonard L. L. Yeo, Weiping Han, Christopher D. Anderson, Chiea Chuen Khor, Poh San Lai

“…Initially identified as the primary susceptibility gene for MMD, <i>RNF213</i>—notably the p.R4810K variant—has been strongly linked to intracranial artery stenosis (ICAS) and various ischemic stroke subtypes, particularly in East Asian populations. This gene encodes an E3 ubiquitin ligase with diverse roles in angiogenesis, vascular remodeling, lipid metabolism, and cerebral blood flow regulation, yet its exact mechanisms in cerebrovascular pathology remain incompletely understood. …”
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Morphological and Molecular Identification of Obligatory Myiasis-Causing Species in Wild Cervids in Croatia by Ema Gagović, Daria Jurković Žilić, Krunoslav Pintur, Adnan Hodžić, Šimun Naletilić, Relja Beck

“…Partial sequencing of the gene-encoding mitochondrial cytochrome oxidase subunit I confirmed the taxonomic classification of <i>C. stimulator</i> and <i>P. picta</i> but was unable to confirm that of <i>H. diana</i> for lack of previously published sequences. …”
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Temporal Changes in Gene Expression Profile during Mature Adipocyte Dedifferentiation by Julie Anne Côté, Frédéric Guénard, Julie Lessard, Marc Lapointe, Simon Biron, Marie-Claude Vohl, André Tchernof

“…Dedifferentiation is associated with downregulation of transcripts encoding proteins involved in mature adipocyte functions and upregulation of genes involved in matrix remodeling, cellular development, and cell cycle.…”
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Genome-wide identification of HbVQ proteins and their interaction with HbWRKY14 to regulate the expression of HbSRPP in Hevea brasiliensis by Jiahong Zhu, Long Qu, Liwang Zeng, Ying Wang, Huiliang Li, Shiqing Peng, Dong Guo

“…Transient co-expression of HbVQ4 or HbVQ5 and HbWRKY14 resulted in relieved HbWRKY14-mediated transcription inhibition of the gene encoding small rubber particle protein (HbSRPP), whereas transient co-expression of HbVQ21 and HbWRKY14 resulted in increased HbWRKY14-mediated HbSRPP transcription inhibition. …”
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Comprehensive Analysis of Word Embedding Models and Design of Effective Feature Vector for Classification of Amazon Product Reviews by B. Priya Kamath, M. Geetha, U. Dinesh Acharya, Dipesh Singh, Ayush Rao, Shwetha Rai, Roopashri Shetty

“…This study examines the implementation of different traditional feature extraction models such as Bag of Words (BoW), Term Frequency-Inverse Document Frequency (TF-IDF), N-grams, and word embeddings like Word2Vec and Bidirectional Encoder Representations from Transformers (BERT) on an Amazon review dataset. …”
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Comparative Genomics Analysis of Plasmid pPV989-94 from a Clinical Isolate of Pantoea vagans PV989 by Lei Xu, Min Yin, Tingyuan Zhu, Yabo Liu, Yuanyuan Ying, Junwan Lu, Chaoqing Lin, Jianchao Ying, Teng Xu, Liyan Ni, Qiyu Bao, Shunfei Lu

“…Interestingly, a fragment (R4′) in R4, mediated by phage integrase and phage integrase family site-specific recombinase and encoding 9 genes related to glycometabolism, resistance, and DNA repair, was unique in pPV989-94. …”
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Genomic Characterization of <i>Laodelphax striatellus</i> Permutotetra-like Virus and Self-Cleavage Function of Viral Capsid Protein by Jun Piao, Jiarui Zhang, Lujie Zhang, Jingai Piao, Haitao Wang, Yilin Xie, Shuo Li

“…It was found that the LsPLV genome was 4667 nt in length, encoding two proteins, RNA-dependent RNA polymerase (RdRP) and CP, and the palm subdomain conserved region in RdRp was arranged in a “C–A–B” permutation pattern, exhibiting the typical characteristics of permutotetra-like viruses. …”
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A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy by Hane Lee, Dongseok Moon, Rin Khang, Go Hun Seo, Chang Ki Yoon, Un Chul Park, Kyu Hyung Park, Eun Kyoung Lee

“…RPE65, one of the causative genes for LCA, encodes retinoid isomerohydrolase, an enzyme that plays a critical role in regenerating visual pigment in photoreceptor cells. …”
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