Gene Set Analyses of Genome-Wide Association Studies on 49 Quantitative Traits Measured in a Single Genetic Epidemiology Dataset by Jihye Kim, Ji-sun Kwon, Sangsoo Kim

“…Based on the previously published single nucleotide polymorphism (SNP) genotype data on 8,842 individuals enrolled in the Korea Association Resource project, we performed a series of systematic genome-wide association analyses for 49 quantitative traits of basic epidemiological, anthropometric, or blood chemistry parameters. …”
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IL-7 promotes integrated glucose and amino acid sensing during homeostatic CD4+ T cell proliferation by Seema Bachoo, Nancy Gudgeon, Rebecca Mann, Victoria Stavrou, Emma L. Bishop, Audrey Kelly, Alejandro Huerta Uribe, Jordan Loeliger, Corina Frick, Oliver D.K. Maddocks, Paul Lavender, Christoph Hess, Sarah Dimeloe

“…We studied the metabolic basis in CD4+ T cells, observing increased glucose usage for nucleotide synthesis and oxidation in the tricarboxylic acid (TCA) cycle. …”
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Comparative proteomics analysis reveals the domesticated Lepista sordida primordium differentiation regulation mechanism and the subsequent different development patterns in the pi... by Xiuqing Yang, Meijie Liu, Yanjiao Zhang, Lizhong Guo, Junqi Wang, Sizhu Li, Yan Zhang, Xiaobo Li, Lili Xu, Hao Yu

“…In young mushrooms, the highly expressed proteins were mainly involved in cell component generation, cell proliferation, nitrogen compound metabolism, nucleotide metabolism, glutathione metabolism, and purine metabolism. …”
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mTORC1 regulates the pyrimidine salvage pathway by controlling UCK2 turnover via the CTLH-WDR26 E3 ligase by Brittany Q. Pham, Sang Ah Yi, Alban Ordureau, Heeseon An

“…Summary: One critical aspect of cell proliferation is increased nucleotide synthesis, including pyrimidines. Pyrimidines are synthesized through de novo and salvage pathways. …”
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Sequence Variants of ADIPOQ and Association with Type 2 Diabetes Mellitus in Taiwan Chinese Han Population by Ming-Kai Tsai, Hui-Min David Wang, Jeng-Chuan Shiang, I-Hung Chen, Chih-Chiang Wang, Ya-Fen Shiao, Wen-Sheng Liu, Tai-Jung Lin, Tsung-Ming Chen, Ya-Huey Chen

“…We attempted to elucidate association between T2DM and polymorphic variations of both in Taiwan’s Chinese Han population, with our retrospective case-control study genotyping single nucleotide polymorphisms (SNPs) in ADIPOQ and TCF7L2 genes both in 149 T2DM patients and in 139 healthy controls from Taiwan. …”
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Leucine-Rich Repeat Protein Family Regulates Stress Tolerance and Development in Plants by Hao Zhiqi, Wang Tingyi, Chen Dongdong, Shen Lan, Zhang Guangheng, Qian Qian, Zhu Li

“…LRR proteins can be divided into two categories: those containing LRR domains along with other structural elements, which are further subdivided into five groups, LRR receptor-like kinases, LRR receptor-like proteins, nucleotide-binding site LRR proteins, LRR-extensin proteins, and polygalacturonase-inhibiting proteins, and those containing only LRR domains. …”
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The Comparative Analyses of Six Complete Chloroplast Genomes of Morphologically Diverse Chenopodium album L. (Amaranthaceae) Collected in Korea by Jongsun Park, Juhyeon Min, Yongsung Kim, Youngjae Chung

“…In total, 56 single nucleotide polymorphisms (SNPs) and 26 insertion and deletion (INDEL) regions (308 bp in total) were identified from the six chloroplast genomes, presenting a low level of intraspecific variations in comparison to the other angiosperm species. 376 normal simple sequence repeats were identified in all seven C. album chloroplast genomes. …”
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Identification of a Copy Number Variation on Chromosome 20q13.12 Associated with Osteoporotic Fractures in the Korean Population by Tae-Joon Park, Mi Yeong Hwang, Sanghoon Moon, Joo-Yeon Hwang, Min Jin Go, Bong-Jo Kim

“…Genome-wide association studies have reported various single-nucleotide polymorphisms and copy number variations (CNVs) in European and Asian populations. …”
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Genome analysis and prevalence of SARS-CoV-2 Indonesian variants and the correlation with the outbreak timeline by Maria Prevyolita Indra Muliawan, Timotius Christopher Tantokusumo, Amalda Siti Anisa, Kholis Abdurachim Audah

“…The spike glycoprotein gene sequences were examined using the BLAST to identify nucleotide and amino acid changes. Additionally, we investigated the prevalence of these variants and their submission timelines on the GISAID database, correlating them with the outbreak timeline. …”
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Insight into the phylogeny and antibiotic resistance of Pseudomonas spp. originating from soil of the Białowieża National Park in Northeastern Poland by Wioleta Lewandowska, Wioleta Lewandowska, Jacques Mahillon, Justyna Małgorzata Drewnowska, Izabela Swiecicka, Izabela Swiecicka

“…The phylogeny trees obtained based on the nucleotide sequence of the 16S rRNA gene and gyrB gene grouped the isolates into clusters belonging to the Pseudomonas fluorescens, Pseudomonas koreensis, and Pseudomonas putida groups, originating from the P. fluorescens lineage. …”
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Analysis of the Complete Genome Sequence of a Novel, Pseudorabies Virus Strain Isolated in Southeast Europe by Zsolt Csabai, Dóra Tombácz, Zoltán Deim, Michael Snyder, Zsolt Boldogkői

“…In this study, long-read sequencing was used to determine the nucleotide sequence of the genome of a novel PRV strain (PRV-MdBio) isolated in Serbia. …”
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Validation of Simple Sequence Length Polymorphism Regions of Commonly Used Mouse Strains for Marker Assisted Speed Congenics Screening by Channabasavaiah B. Gurumurthy, Poonam S. Joshi, Scott G. Kurz, Masato Ohtsuka, Rolen M. Quadros, Donald W. Harms, K. C. Kent Lloyd

“…Moreover, unlike newer single nucleotide polymorphism (SNP) array methods which require sophisticated equipment, the SSLP markers panel described here only uses PCR and agarose gel electrophoresis of amplified products; therefore it can be performed in most research laboratories.…”
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Genome sequencing reveals novel variants in a diverse population with congenital anterior segment anomalies by Ashraf Hussain, Maria Fernanda Villalba, Dayna Morel Swols, Rayan Abou Khzam, Brittney Keira Johnson, LéShon Peart, Sarha D’Haiti, Alana L. Grajewski, Mustafa Tekin, Ta Chen Chang, Guney Bademci

“…These variants included single nucleotide variants CPAMD8:c.4825 C > T, c.534 G > A, CRYBB1:c.683 C > A, NHS:c.1180 C > T, GJA3:c.176 C > T, CRYGC:c.470 G > A, COL2A1:c.2819 G > A, c.1693 C > T, EPHA2:c.2864 A > C, a splice donor variant in COL11A1:c.933 + 1del, and a copy number variant in FBN1. …”
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Genetic Variants of C-5312T REN Increased Renin Levels and Diastolic Blood Pressure Response to Angiotensin Receptor Blockers by Mohammad Saifur Rohman, Ika Arum Dewi Satiti, Nashi Widodo, Mifetika Lukitasari, Hidayat Sujuti

“…Therefore, this study aimed to investigate the serum renin level and blood pressure response in ARB treated hypertensive patients. Single nucleotide polymorphism (SNP) of C-5312T was identified in 55 hypertensive patients by using multiplex PCR and renin serum level was assayed by ELISA. …”
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Short Stature Homeobox-Containing Haploinsufficiency in Seven Siblings with Short Stature by Elizabeth S. Sandberg, Ali S. Calikoglu, Karen J. Loechner, Lydia L. Snyder

“…Due to significant familial short stature and shortened arm span, SHOX gene analysis was performed and revealed patient is heterozygous for a novel SHOX gene mutation at nucleotide position c.582. This mutation is predicted to cause termination of the SHOX protein at codon 194, effectively causing haploinsufficiency. …”
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A Comparative Study on Phenotypic versus ITS-Based Molecular Identification of Dermatophytes Isolated in Dakar, Senegal by Khadim Diongue, Ludivine Bréchard, Mamadou Alpha Diallo, Mame Cheikh Seck, Mouhamadou Ndiaye, Aida Sadikh Badiane, Stéphane Ranque, Daouda Ndiaye

“…On the other hand, nucleotide sequence analysis of internal transcribed spacers (ITS) of rDNA has proved to be a useful method for identification of dermatophytes. …”
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Lung Cancer Risk and Genetic Polymorphisms in DNA Repair Pathways: A Meta-Analysis by Chikako Kiyohara, Koichi Takayama, Yoichi Nakanishi

“…We conducted a meta-analysis of epidemiologic studies on the association between genetic polymorphisms in both base excision repair and nucleotide excision repair pathways, and lung cancer. …”
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The use of the primary structure of the ITS1–ITS2 region for species identification in some submerged aquatic macrophytes of the genus <i>Stuckenia</i> by A. V. Mglinets, О. E. Kosterin

“…Analysis of the ITS1–ITS2 region sequences of S. vaginata and S. pectinata from public databases showed that they differed by insertions/deletions and single or double nucleotide substitutions. Besides, the ITS1–ITS2 region of S. pectinata was shown to be represented by two haplotype groups designated as S. pectinata type A and S. pectinata type B with good bootstrap support in phylogenetic reconstructions. …”
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The NLRP3 Inflammasome as a Novel Player of the Intercellular Crosstalk in Metabolic Disorders by Elisa Benetti, Fausto Chiazza, Nimesh S. A. Patel, Massimo Collino

“…One of the most recently identified signaling pathways, whose activation seems to affect many metabolic disorders, is the “inflammasome,” a multiprotein complex composed of NLRP3 (nucleotide-binding domain and leucine-rich repeat protein 3), ASC (apoptosis-associated speck-like protein containing a CARD), and procaspase-1. …”
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Characterization of a WAS splice-site variant in a patient with Wiskott-Aldrich syndrome by Elisabetta Toriello, Rosa Maritato, Antonio De Rosa, Maria Valeria Esposito, Carla Damiano, Carla Damiano, Carmen Rosano, Emilia Cirillo, Antonietta Tarallo, Antonietta Tarallo, Cosimo Abagnale, Francesca Cillo, Roberta Romano, Laura Grilli, Marika Comegna, Marika Comegna, Giancarlo Blasio, Giancarlo Parenti, Giancarlo Parenti, Enrico Maria Surace, Giuseppe Castaldo, Giuseppe Castaldo, Claudio Pignata, Giuliana Giardino

“…By using targeted next-generation sequencing (t-NGS), we identified in a 2-month-old boy with thrombocytopenia and immunological alterations a 4-nucleotide deletion from position +3 to +6 of intron 8 (c.777 + 3_777 + 6delGAGT) of WAS, currently classified on ClinVar as a variant of uncertain significance. …”
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