PADI4 Haplotypes in Association with RA Mexican Patients, a New Prospect for Antigen Modulation by Maria Guadalupe Zavala-Cerna, Norma Guadalupe Gonzalez-Montoya, Arnulfo Nava, Jorge I. Gamez-Nava, Maria Cristina Moran-Moguel, Roberto Carlos Rosales-Gomez, Susan Andrea Gutierrez-Rubio, Jose Sanchez-Corona, Laura Gonzalez-Lopez, Ingrid Patricia Davalos-Rodriguez, Mario Salazar-Paramo

“…Peptidyl arginine deiminase IV (PAD 4) is the responsible enzyme for a posttranslational modification called citrullination, originating the antigenic determinant recognized by anti-cyclic citrullinated peptide antibodies (ACPA). Four SNPs (single nucleotide polymorphisms) have been described in PADI4 gene to form a susceptibility haplotype for rheumatoid arthritis (RA); nevertheless, results in association studies appear contradictory in different populations. …”
Get full text

LongReadSum: A fast and flexible quality control and signal summarization tool for long-read sequencing data by Jonathan Elliot Perdomo, Mian Umair Ahsan, Qian Liu, Li Fang, Kai Wang

“…While several well-established quality control (QC) tools exist for short-read sequencing data, there is a general paucity of computational tools that efficiently deliver comprehensive metrics across a wide range of long-read sequencing data formats, such as Oxford Nanopore (ONT) POD5, ONT FAST5, ONT basecall summary, Pacific Biosciences (PacBio) unaligned BAM, and Illumina Complete Long Read (ICLR) FASTQ file formats. In addition to nucleotide sequence information, some file formats such as POD5 contain raw signal information used for base calling, while other file formats such as aligned BAM contain alignments to a linear reference genome or transcriptome and may also contain base modification information. …”
Get full text

Methylation Status of Vitamin D Receptor Gene Promoter in Benign and Malignant Adrenal Tumors by Catia Pilon, Andrea Rebellato, Riccardo Urbanet, Vincenza Guzzardo, Rocco Cappellesso, Hironobu Sasano, Ambrogio Fassina, Francesco Fallo

“…Downregulation of VDR gene expression may result from epigenetics events, that is, methylation of cytosine nucleotide of CpG islands in VDR gene promoter. We analyzed methylation of CpG sites in the VDR gene promoter in normal adrenals and adrenocortical tumor samples. …”
Get full text

Epigenetic Properties of Compounds Contained in Functional Foods Against Cancer by Giulia Casari, Brenda Romaldi, Andrea Scirè, Cristina Minnelli, Daniela Marzioni, Gianna Ferretti, Tatiana Armeni

“…Epigenetics encompasses reversible and heritable genomic changes in histones, DNA expression, and non-coding RNAs that occur without modifying the nucleotide DNA sequence. These changes play a critical role in modulating cell function in both healthy and pathological conditions. …”
Get full text

Severe COVID-19 disease is associated with genetic factors affecting plasma ACE2 receptor and CRP concentrations by Verena Vogi, David Haschka, Lukas Forer, Simon Schwendinger, Verena Petzer, Stefan Coassin, Ivan Tancevski, Thomas Sonnweber, Judith Löffler-Ragg, Elisabeth Puchhammer-Stöckl, Marianne Graninger, Dominik Wolf, Florian Kronenberg, Johannes Zschocke, Emina Jukic, Günter Weiss

“…Furthermore, specific single nucleotide polymorphisms (SNPs) that contribute to either of the two Polygenic Scores predicting basal CRP levels are associated with different traits that represent risk factors for COVID-19 disease initiation (ACE2 receptor, viral replication) and progression (CRP). …”
Get full text

Development of new SSR markers for homoeologous WFZP loci based on the study of structure and location of microsatellites in gene-rich regions of chromosomes 2AS , 2BS, 2DS by O. B. Dobrovolskaya, C. Pont, Yu. L. Orlov, J. Salse

“…Comparison of these loci showed that the divergence in their structure was caused both by changes in repeat number and nucleotide substitutions. New SSR markers were developed and mapped. …”
Get full text

Phylogenetic Analysis of Dengue Virus in Bangkalan, Madura Island, East Java Province, Indonesia by Teguh Hari Sucipto, Tomohiro Kotaki, Kris Cahyo Mulyatno, Siti Churrotin, Amaliah Labiqah, Soegeng Soegijanto, Masanori Kameoka

“…The Madura Island isolates showed high nucleotide similarity to other Indonesian isolates, indicating frequent virus circulation in Indonesia. …”
Get full text

Proteomics study of Mongolian medicine warm acupuncture in the treatment of p-chlorophenylalanine-induced insomnia in rats by Yanan Xu, Jianxun Wen, Wenyan Han, Gula A, Xiulan Su

“…Differentially expressed proteins included albumin (ALB), Pro-MCH (PMCH), acetoacetyl-CoA synthetase (AACS), N-ethylmaleimide sensitive factor (NSF), potassium/sodium hyperpolarization-activated cyclic-nucleotide gated channel 4 (HCN4) and Ciapin1, which are important proteins for MMWA treatment of insomnia. …”
Get full text

Polymorphism in the Vesicular Monoamine Transporter 2 Gene Decreases the Risk of Parkinson’s Disease in Han Chinese Men by Xinglong Yang, Pingrong Xu, Quanzhen Zhao, Ran An, Hua Jia, Zhuolin Liu, Yanming Xu

“…Polymorphisms rs363371 and rs363324 in the vesicular monoamine transporter 2 (VMAT2) gene have been associated with risk of PD in an Italian population, and our aim is to investigate the association between the two single-nucleotide polymorphisms and PD in Han Chinese. Methods. 561 Han Chinese PD patients and 491 healthy age- and gender-matched controls were genotyped using Ligase detection reaction (LDR) method. …”
Get full text

Case Study of Somaclonal Variation in Resistance Genes Mlo and Pme3 in Flaxseed (Linum usitatissimum L.) Induced by Nanoparticles by Inese Kokina, Ilona Mickeviča, Marija Jermaļonoka, Linda Bankovska, Vjačeslavs Gerbreders, Andrejs Ogurcovs, Inese Jahundoviča

“…In this paper, it was essential to obtain DNA material from all tissue culture development stages from one donor plant to record changes in each nucleotide sequence. Gene region specific primers were developed for resistance genes such as Mlo and Pme3 to define the genetic variability in tissue culture of L. usitatissimum. …”
Get full text

A Novel Mutation of the Calcium-Sensing Receptor Gene Causing Familial Hypocalciuric Hypercalcemia Complicates Medical Followup after Roux-en-Y Gastric Bypass: A Case Report and a... by Elin Rebecka Carlsson, Mai-Britt Toft Nielsen, Anne Mette Høgh, Rikke Veggerby Grønlund, Mogens Fenger, Louise Ambye

“…Sequencing of the CaSR-gene revealed a mutation in nucleotide 437, changing the amino acid in position 146 from Glycine to Aspartate. …”
Get full text

Demographic Trends in Korean Native Cattle Explained Using Bovine SNP50 Beadchip by Aditi Sharma, Dajeong Lim, Han-Ha Chai, Bong-Hwan Choi, Yongmin Cho

“…After quality control there were ~29,000 single nucleotide polymorphisms (SNPs) for which r2 value was calculated. …”
Get full text

Beyond the Comfort Zone: Strenuous Sports as a Preventive Tactic Against Benign Prostatic Hyperplasia by Wei Zhang, Gang Li, Chengya Hao, Aijun Cheng

“…The study utilizes single nucleotide polymorphisms (SNPs) associated with strenuous sports obtained from published genome-wide association studies (GWAS), alongside summarized genetic data related to benign prostatic hyperplasia (BPH) from published GWAS. …”
Get full text

The small GTPase MRAS is a broken switch by Gabriela Bernal Astrain, Regina Strakhova, Chang Hwa Jo, Emma Teszner, Ryan C. Killoran, Matthew J. Smith

“…Abstract Intense research on founding members of the RAS superfamily has defined our understanding of these critical signalling proteins, leading to the premise that small GTPases function as molecular switches dependent on differential nucleotide loading. The closest homologs of H/K/NRAS are the three-member RRAS family, and interest in the MRAS GTPase as a regulator of MAPK activity has recently intensified. …”
Get full text

Ticlopidine in Its Prodrug Form Is a Selective Inhibitor of Human NTPDase1 by Joanna Lecka, Michel Fausther, Beat Künzli, Jean Sévigny

“…Nucleoside triphosphate diphosphohydrolase-1 (NTPDase1), like other ectonucleotidases, controls extracellular nucleotide levels and consequently their (patho)physiological responses such as in thrombosis, inflammation, and cancer. …”
Get full text

Association of Interleukin-18 Gene Polymorphism with Susceptibility to Visceral Leishmaniasis in Endemic Area of Bihar, an Indian Population by Dinesh Kumar, Puja Tiwary, Jaya Chakravarty, Shyam Sundar

“…Lower plasma level of IL-18 in visceral leishmaniasis (VL) patients might be associated with polymorphisms in the regulating or coding region of the gene. Three single nucleotide polymorphisms (SNPs), rs1946519 (−656 G/T) and rs187238 (−137 G/C) in the promoter region and rs549908 (+105 A/C) in the codon region, were genotyped in 204 parasitological confirmed VL patients and 267 controls with no past history of VL. …”
Get full text

Constructing the biomolecular networks associated with diabetic nephropathy and dissecting the effects of biomolecule variation underlying pathogenesis by Zi-Han Wang, Qi Dong, Qian Yan, Wan-Rong Yu, Dan-Dan Zhang, Ran Yi

“…Finally, we gathered DN-related single nucleotide polymorphisms (SNPs) and lncRNAs from the LincSNP 3.0 database. …”
Get full text

Association Analysis of NALCN Polymorphisms rs1338041 and rs61973742 in a Chinese Population with Isolated Cervical Dystonia by Qingqing Zhou, Jing Yang, Bei Cao, Yongping Chen, Qianqian Wei, Ruwei Ou, Wei Song, Bi Zhao, Ying Wu, Huifang Shang

“…The present study was carried out to examine the associations between the two single nucleotide polymorphisms (SNPs) rs1338041 and rs61973742 in the NALCN gene and CD in a Chinese population. …”
Get full text

Variability of mitochondrial DNA D-loop sequences in Zabaikalskaya horse breed by L. A. Khrabrova, N. V. Blohina, B. Z. Bazaron, T. N. Khamiruev

“…The sequenced fragment of the D-loop from nucleotide position 15471 to 16000 contained 17 polymorphic sites, mainly represented by the A→G, G→A and T→C transitions. …”
Get full text

A ribosome-associating chaperone mediates GTP-driven vectorial folding of nascent eEF1A by Ibrahim M. Sabbarini, Dvir Reif, Kibum Park, Alexander J. McQuown, Anjali R. Nelliat, Charlotte Trejtnar, Volker Dötsch, Eugene I. Shakhnovich, Andrew W. Murray, Vladimir Denic

“…Our work shows that an ATP-independent chaperone can drive vectorial folding of nascent chains by co-opting G protein nucleotide binding.…”
Get full text