Clinical Role of Epigenetics and Network Analysis in Eye Diseases: A Translational Science Review by Michele Lanza, Giuditta Benincasa, Dario Costa, Claudio Napoli

“…Determining how, where, and when specific epigenetic changes trigger ocular diseases may provide useful clinical biomarkers for their prevention, diagnosis, and management, as well as innovative drug targets. PF-04523655, a 19-nucleotide methylated double-stranded siRNA targeting the RTP80 gene, showed a dose-related improvement in best-corrected visual acuity (BCVA) in patients affected by diabetic macular edema. …”
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Results of Selective Biochemical Screening for Lysosomal Acid Lipase Deficiency and Sequencing of the <i>LIPA</i> Gene in the Risk Group Patients by S. V. Shtykalova, A. A. Egorova, O. S. Glotov, A. V. Kiselev, I. Yu. Kogan

“…In 100 % of detected cases, genetic mutations in the LIPA gene included single nucleotide substitution c.894G&gt;A. Along with this mutation, two previously undescribed mutations (c.35dup and c.176A&gt;G) were discovered in a compound heterozygous state.Conclusions. …”
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Association of genetically proxied cancer-targeted drugs with cardiovascular diseases through Mendelian randomization analysis by Chuchun Fang, Xuewei Liu, Chen Yu, Songlin Li, Xueying Liu, Shifeng Qiu, Hongbin Liang, Caiwen Ou, Jiancheng Xiu

“…Colocalization analysis identifies shared causal variants between exposure eQTLs and CVD-associated single-nucleotide polymorphisms (SNPs). Results Among the 39 drug target genes, 8 were identified with detectable cis-eQTLs and were subsequently validated through positive control analysis for further investigation. …”
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Virulence-associated variants in Cryptococcus neoformans sequence type 93 are less likely to be associated with population structure compared to independent rare mutations by Katrina M. Jackson, Kisakye Diana Kabbale, Marissa Macchietto, David Meya, Peter Tiffin, Kirsten Nielsen

“…We found extensive linkage disequilibrium (LD) among the single nucleotide polymorphisms (SNPs) that differentiate ST93A from ST93B. …”
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DNA barcoding of terrestrial invasive plant species in Southwest Michigan by Sneha Nath, Joshua T. VanSlambrouck, Janelle W. Yao, Ashika Gullapalli, Fayyaz Razi, Yan Lu

“…Close inspection of nucleotide sequences at the four DNA barcode regions among related species demonstrates that DNA barcoding is especially useful in identifying TIPS that are morphologically similar to other species.…”
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Progress in Study of Low-Intensity Pulsed Ultrasound Acting on Inflammation-Related Signaling Pathways in Knee Osteoarthritis by OUYANG Hui, LIN Xingjin, WANG Jinying, SHEN Longbin, WANG Chengdong

“…The therapeutic mechanisms reviewed as following: 1) LIPUS can reduce the inflammatory response by enhancing the autophagic pathway of macrophages in the synovial membrane and inhibiting the nucleotide-binding oligomerization domain-like receptor protein 3 (NLRP3) inflammatory vesicle pathway to reduce IL-1β production by macrophages; it can also acts through the classical wingless MMTV integration site family protein (Wnt)/β-linked protein signaling pathway on fibroblasts in the synovial membrane to inhibit synovial fibrosis. 2) LIPUS promotes chondrocyte production of extracellular matrix, regulates chondrocyte metabolism, and protects cartilage by inhibiting IL-1β -induced nuclear factor-activated B-cell κ light chain enhancer (NF-κB) signaling pathway and regulating mitogen-activated protein kinases (MAPKs) signaling pathway. 3) LIPUS protects cartilage by activating extracellular signal-regulated kinase 1/2 (ERK1/2) and phosphatidylinositol 3-kinase-protein kinase B (PI3K-Akt) signaling pathways to promote MSCs proliferation and differentiation, and also promotes transforming growth factor-beta1 (TGF-β1) production by MSCs through the integral protein-target of rapamycin (mTOR) signaling pathway to promote cartilage formation. …”
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Hindguts of Kyphosus sydneyanus harbor phylogenetically and genomically distinct Alistipes capable of degrading algal polysaccharides and diazotrophy by Cesar T. Facimoto, Kendall D. Clements, W. Lindsey White, Kim M. Handley

“…Analyses showed that Alistipes from K. sydneyanus are phylogenetically distinct from other hosts and comprise 26 species based on genomic average nucleotide identity (ANI) analyses. Ruminant- and fish-derived Alistipes had significantly smaller genomes than human-derived strains, and lower GC contents, possibly reflecting a symbiotic relationship with their hosts. …”
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An experimental study of the effects of SNPs in the TATA boxes of the <i>GRIN1, ASCL3</i> and <i>NOS1</i> genes on interactions with the TATA-binding protein by E. B. Sharypova, I. A. Drachkova, I. V. Chadaeva, M. P. Ponomarenko, L. K. Savinkova

“…Based on our findings and literature data, we had previously obtained results suggesting that the single-nucleotide polymorphisms (SNPs) that disrupt erythropoiesis are highly likely to be associated with cognitive and neuropsychiatric disorders in humans. …”
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Usefulness of Measuring Thiopurine Metabolites in Children with Inflammatory Bowel Disease and Autoimmunological Hepatitis, Treated with Azathioprine by Katarzyna Bąk-Drabik, Piotr Adamczyk, Justyna Duda-Wrońska, Dominika Dąbrowska-Piechota, Anna Jarzumbek, Jarosław Kwiecień

“…Thiopurine metabolites, 6-thioguanine nucleotide (6-TGN) and 6-methylmercaptopurine (6-MMP), were assayed by high-performance liquid chromatography (HPLC), and the AZA dose was adjusted when 6-TGN concentration was known. …”
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Effect of NAM-1 genes on the protein content in grain and productivity indices in common wheat lines with foreign genetic material introgressions in the conditions of Belarus by O. A. Orlovskaya, S. I. Vakula, K. K. Yatsevich, L. V. Khotyleva, A. V. Kilchevsky

“…Full-length NAM-A1 nucleotide sequences of T. dicoccoides k-5199, T. dicoccum k-45926, T. kiharae, and T. spelta k-1731 accessions were established and registered with the international molecular database GenBank. …”
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Primary HIV Drug Resistance among Recently Infected Cases of HIV in North-West India by C. K. Chauhan, P. V. M. Lakshmi, V. Sagar, A. Sharma, S. K. Arora, R. Kumar

“…Injecting drug user (IDU) has showed resistance to either nucleoside/nucleotide reverse transcriptase inhibitors (NRTI) or nonnucleotide reverse transcriptase inhibitors (NNRTI). …”
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<i>In silico</i> search for and analysis of R gene variation in primitive cultivated potato species by A. A. Gurina, M. S. Gancheva, N. V. Alpatieva, E. V. Rogozina

“…An analysis of polymorphism of nucleotide and amino acid sequences has been carried out for 15 R genes. …”
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Implications of cytokine genes polymorphisms in Jordanian patients with obsessive compulsive disorder by Ahmad M. Khalil, Manal W. Khrais, Khaled M. Al-Qaoud, Mohamad Y. Al Ta’any

“…We aimed at providing experimental evidence for single nucleotide polymorphisms (SNPs) in candidate cytokine genes for the etiology of OCD. …”
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Genomic Insights into Blood Pressure Regulation: Exploring Ion Channel and Transporter Gene Variations in Jordanian Hypertensive Individuals by Mansour Abdullah Alghamdi, Laith AL-Eitan, Rasheed Ibdah, Islam Bani Khalid, Salma Darabseh, Maryam Alasmar, Asaad Ataa

“…<i>Results</i>: Sixteen single nucleotide polymorphisms (SNPs) from nine genes were evaluated. …”
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THE DEVELOPMENT OF SCIENCE AND THE FATE OF A SCIENTIST (FOLLOWING GENETICS) by Jonas Rubikas

“…., 1975–1977, "The DNA (RNA) Nucleotide Sequence–The Function." One can notice that a change of levels occurs at almost every 30-year period. …”
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Comparison of SNP Genotypes Related to Proliferative Vitreoretinopathy (PVR) across Slovenian and European Subpopulations by Xhevat Lumi, Mateja M. Jelen, Daša Jevšinek Skok, Emanuela Boštjančič, Metka Ravnik-Glavač, Marko Hawlina, Damjan Glavač

“…The present study investigated the distribution of genotypes within single nucleotide polymorphisms (SNPs) in genes, related to PVR pathogenesis across European subpopulations. …”
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Complete mitochondrial genome sequence analysis revealed double matrilineal components in Indian Ghoongroo pigs by Pranab Jyoti Das, Satish Kumar, Manasee Choudhury, Seema Rani Pegu, K. Meera, Rajib Deb, Sunil Kumar, Santanu Banik, Vivek Kumar Gupta

“…Furthermore, examination of tRNA genes and nucleotide composition of different genes namely rRNAs, COX1, COX2, ATP6, ND4, ND5, ND6, Cytb offered insights into genetic diversity within these pigs. …”
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The effect of cheese intake on osteoarthritis: a Mendelian randomization study by Song Wen, Zehan Huang, Bin Zhang, Yuqing Huang

“…Moreover, we weighted each single nucleotide polymorphism’s (SNP) effect on OA by its effect on cheese intake and subsequently meta-analyzed these estimates utilizing a fixed-effects model to provide a summary effect estimate. …”
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Identification of deleterious variants associated with male infertility genes in a cohort of idiopathic hypospermatogenesis patients by Nisha Sharma, Ashutosh Halder, Seema Kaushal, Manoj Kumar, Manish Jain

“…Whole exome sequencing was performed, and the data of 42 iHS patients was analyzed to identify single nucleotide variants associated with diagnostically important male infertility genes.ResultsGenomic analysis of SNVs identified rare deleterious candidate variants in CFTR (c.1265C&gt;T; p.Ser422Phe), CYP21A2 (c.955C&gt;T; p.Gln319Glu), SRD5A2 (c.737G&gt;A; p.Arg245Gln), LHCGR (c.378A&gt;C; p.Lys126Asn) and AR (c.2179C&gt;A; p.Arg727Ser) genes associated with 7/42 idiopathic hypospermatogenesis patients. …”
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A risk prediction model of gestational diabetes mellitus based on traditional and genetic factors by Ying Li, Xinli Zhong, Mengjiao Yang, Lu Yuan, Dandan Wang, Ting Li, Yanying Guo

“…Among genetic factors, 11 single nucleotide polymorphisms (SNPs) (rs2779116, rs5215, rs11605924, rs7072268, rs7172432, rs10811661, rs2191349, rs10830963, rs174550, rs13266634 and rs11071657) were identified as potential predictors of the risk of postpartum DM among women with GDM history, collectively accounting for 3.6% of the genetic risk.Conclusions Both genetic and traditional factors contribute to the risk of GDM in women, operating through diverse mechanisms. …”
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