CNTNAP3 Associated ATG16L1 Expression and Crohn’s Disease by Yu Qi Qiao, Mei Lan Huang, Qing Zheng, Tian Rong Wang, An Tao Xu, Yuan Cao, Di Zhao, Zhi Hua Ran, Jun Shen

“…Autophagy-related gene mutations and autophagy disorders are important in Crohn’s disease (CD). The nucleotide oligomerization domain 2–autophagy genes autophagy 16-like 1 (NOD2–ATG16L1) signaling axis disorder contributes to the dysfunction of autophagy. …”
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The First Case Report in Italy of Di George Syndrome Detected by Noninvasive Prenatal Testing by Giuseppina Rapacchia, Cristina Lapucci, Maria Carla Pittalis, Aly Youssef, Antonio Farina

“…Panorama Plus (Natera), a single-nucleotide polymorphism- (SNP-) based approach that relies on the identification of maternal and fetal allele distributions, allows the detection of common aneuploidies and also incorporates a panel of 5 microdeletions including Di George syndrome. …”
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Long Non-coding RNA: Characterizing the Locus Features by the Approaches by Mohammadreza Hajjari, Saghar Rahnama

“…We identified repeat sequences and single nucleotide polymorphisms that are located within or next to the CpGIs of HOTAIR. …”
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Association between rs12045440 Polymorphism in the CAPZB Intron and Serum TSH Concentrations in Chinese Thyroid Tumor Patients by Shouhao Feng, Shengli Lin, Jidong Zou, Yulong Wang, Qinghai Ji, Zhenghua Lv

“…The aim of this study was to investigate the possible influence of different genotypes of the lead single nucleotide polymorphisms (SNPs) rs10917468 and rs12045440 in the CAPZB gene on the thyroid function in papillary thyroid carcinoma (PTC) and benign thyroid neoplasm (BN) patients. …”
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FOXE1 Mutation Screening in a Case with Cleft Lip, Hypothyroidism, and Thyroid Carcinoma: A New Syndrome? by Hugo Mendieta-Zerón, Angélica Jiménez-Rosales, Carlos Jhovani Pérez-Amado, Silvia Jiménez-Morales

“…Her clinical history revealed that, at 3 months of age, she was successfully treated with surgery for cleft lip (CL) and at the age of 24 years was diagnosed with hypothyroidism. Single nucleotide polymorphisms (SNPs) in FOXE1 and its promoter regions have been associated with various etiologies related to the thyroid, including orofacial clefting, specially cleft palate (CP) and CL, hypothyroidism (HT), and thyroid cancer. …”
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Thr92Ala Polymorphism of Human Type 2 Deiodinase Gene (hD2) Affects the Development of Graves' Disease, Treatment Efficiency, and Rate of Remission by Babenko Alina, Popkova Daria, Freylihman Olga, Solncev Vladislav, Kostareva Anna, Grineva Elena

“…Recent studies revealed that certain single nucleotide polymorphisms (including threonine (Thr) to alanine (Ala) replacement in D2 gene codon 92, D2 Thr92Ala) affect T3 levels in tissues and in serum. …”
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Plastid genome comparison and phylogenetic analyses of the Chinese group of medicinal species and related taxa within Asparagus genus by Pingxuan Xie, Tinglu Wang, Jiawei Tan, Linyuan Fan, Changkun Liu, Hanjing Yan

“…The genus displayed mono-, di-, tri-, tetra-, penta-, and hexa-nucleotide repeats, but with variations in types and numbers among different species. …”
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Optimized methods for the targeted surveillance of extended-spectrum beta-lactamase-producing Escherichia coli in human stool by Sarah Gallichan, Sally Forrest, Esther Picton-Barlow, Claudia McKeown, Maria Moore, Eva Heinz, Nicholas A. Feasey, Joseph M. Lewis, Fabrice E. Graf

“…To link transmission of ESBL-producing E. coli (ESBL-EC) between two sources, single-nucleotide resolution of E. coli strains, as well as E. coli diversity within and between samples, is required. …”
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Advances in personalized gastroenterology and hepatology 2016 by E. Blum Hubert

“…Based on modern molecular, genetic, epigenetic microbiologic and biochemical analyses it is, on the one hand, possible to identify disease-related point mutations and single nucleotide polymorphisms in the context of genomewide association analyses (GWAS). …”
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POLYMORPHIC VARIANTS OF SUNFLOWER <i> RFL-PPR </i> GENES AS MOLECULAR GENETIC MARKERS by I. N. Anisimova, Yu. I. Karabitsina, N. V. Alpatieva, E. B. Kuznetsova, V. A. Gavrilova, E. E. Radchenko

“…A sample of 131 sunflower lines from VIR genetic collection which differed for the ability to suppression of the CMS phenotype was studied using molecular markers specific for the CMS PET1 associated mitochondrial locus orfH522 and Rf1 nuclear gene, and also for CAPS-markers developed on the bases of single nucleotide polymorphism of RFL-PPR genes homologs. With the use of hybridological analysis a tight linkage of HRG01 and HRG02 marker fragments with the Rf1 gene controlling pollen fertility restoration trait was confirmed. …”
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Bioinformatics Interpretation of Exome Sequencing: Blood Cancer by Jiwoong Kim, Yun-Gyeong Lee, Namshin Kim

“…We had analyzed 10 exome sequencing data and single nucleotide polymorphism chips for blood cancer provided by the PGM21 (The National Project for Personalized Genomic Medicine) Award program. …”
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Crocetin Alleviates Inflammation in MPTP-Induced Parkinson’s Disease Models through Improving Mitochondrial Functions by Na Dong, Zhong Dong, Ying Chen, Xiaosu Gu

“…Furthermore, crocetin treatment protected mitochondrial functions against MPP+ induced damage by regulating the mPTP (mitochondrial permeability transition pore) viability in the interaction of ANT (adenine nucleotide translocase) and Cyp D (Cyclophilin D) dependent manner. …”
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Detection of genomic loci associated with days to heading in tropical japonica rice through QTL-seq by Khairul Yusuf Nasution, Dani Satyawan, Muhamad Yunus, Azri Kusuma Dewi, Puput Melati, Marina Yuniawati Maryono, Ita Dwimahyani, Wening Enggarini, Sobrizal

“…Whole genome sequencing (WGS) derived single nucleotide polymorphism (SNP) from early and late-heading bulks were used to identify three candidate regions with strong association to DTH: qDTH3.1 and qDTH3.2 on chromosome 3, and qDTH7.1 on chromosome 7, with the latter linked to the Oryza sativa Pseudo-Response Regulator 37 (OsPRR37) gene. …”
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High-Resolution Northern Blot for a Reliable Analysis of MicroRNAs and Their Precursors by Edyta Koscianska, Julia Starega-Roslan, Katarzyna Czubala, Wlodzimierz J. Krzyzosiak

“…This protocol describes how to perform northern blot analyses to detect microRNAs and their precursors with single-nucleotide resolution, which is crucial for analyzing individual length variants and for evaluating relative quantities of unique microRNAs in cells. …”
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Branchinecta orientalis Sars, 1901 (Anostraca: Branchinectidae) in Onon-Torey lakes of the Trans-Baikal Territory by Petr V. Matafonov, Natalia M. Sukhikh

“…Both studied CO1 haplotypes turned out to be individual, although at a distance of two or three nucleotide substitutions from one of the most numerous Mongolian-Tibetan haplotypes. …”
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The Role of Bacteria and Pattern Recognition Receptors in GvHD by E. Holler, K. Landfried, J. Meier, M. Hausmann, G. Rogler

“…With the detailed description of pathogen-associated molecular patterns and pathogen recognition receptors single nucleotide polymorphisms of TLRs and especially NOD2 have been identified as potential risk factors of GvHD and transplant related complications thus further supporting the crucial role of innate immunity in SCT, related complications. …”
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Anti-HSV-1 agents: an update by Wenwen Lv, Lei Zhou, Jia Wu, Jishuai Cheng, Yongzhong Duan, Wen Qian

“…To date, there are no approved commercially available vaccines, and anti-HSV-1 drugs such as specific or non-specific nucleotide (nucleoside) analogs and helicase-primase inhibitors have become the main clinical agents for the treatment of HSV-1 infections despite challenges from resistance. …”
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Haplotypes-based genetic analysis: benefits and challenges by D. Sehgal, S. Dreisigacker

“…The increasing availability of Single Nucleotide Polymorphisms (SNPs) discovered by Next Generation Sequencing will enable a range of new genetic analyses in crops, which was not possible before. …”
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Targeting Toll-Like Receptors for Treatment of SLE by Christopher G. Horton, Zi-jian Pan, A. Darise Farris

“…Genome-wide association studies, single nucleotide polymorphism analyses as well as experimental mouse models have provided evidence of TLR signaling involvement in SLE and other autoimmune diseases. …”
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DNA replication initiation drives focal mutagenesis and rearrangements in human cancers by Pierre Murat, Guillaume Guilbaud, Julian E. Sale

“…Sites of replication initiation impede nucleotide excision repair in melanoma and are off-targets for activation-induced deaminase (AICDA) activity in lymphomas. …”
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