Tag: MMR
Genetic and chemotherapeutic influences on germline hypermutation
DNM filtering in 100,000 Genomes Project We analysed DNMs called in 13,949 parent–offspring trios from 12,609 families from the rare disease programme of the 100,000 Genomes Project. The rare disease cohort includes individuals with a wide array of diseases, including neurodevelopmental disorders, cardiovascular disorders, renal and urinary tract disorders, ophthalmological…
Role of CD68 in tumor immunity and prognosis prediction in pan-cancer
Expression of CD68 in pan-cancer First, to fully clarify the expression of CD68 in pan-cancer, we matched the GTEx normal samples with TCGA tumor samples (Fig. 1A). We found that the levels of CD68 were significantly elevated (P < 0.01) in colon adenocarcinoma (COAD), glioblastoma multiforme (GBM), kidney renal clear cell carcinoma (KIRC),…
Gene variants of the SLC2A5 gene encoding GLUT5, the major fructose transporter, do not contribute to clinical presentation of acquired fructose malabsorption | BMC Gastroenterology
Fassio F, Facioni MS, Guagnini F. Lactose maldigestion, malabsorption, and intolerance: a comprehensive review with a focus on current management and future perspectives. Nutrients. 2018. doi.org/10.3390/nu10111599. Article PubMed PubMed Central Google Scholar Gibson PR, Newnham E, Barrett JS, et al. Review article: fructose malabsorption and the bigger picture. Aliment Pharmacol…
Identification of differentially expressed genes in AF
Defeng Pan,1,* Yufei Zhou,2,* Shengjue Xiao,1,* Yue Hu,3,* Chunyan Huan,1 Qi Wu,1 Xiaotong Wang,1 Qinyuan Pan,1 Jie Liu,1 Hong Zhu1 1Department of Cardiology, The Affiliated Hospital of Xuzhou Medical University, Xuzhou, Jiangsu, 221004, People’s Republic of China; 2Department of Cardiology, Shanghai Institute of Cardiovascular Diseases, Zhongshan Hospital and Institutes of…
Mutational Analysis of Mitochondrial tRNA Genes
Introduction Diabetes is a very complex disease characterized by the presence of chronic hyperglycemia. Clinically, insulin-dependent type 1 and non-insulin-dependent type 2 are the main types of diabetes. Among them, type 2 diabetes mellitus (T2DM, [MIM125853]) is a common endocrine disorder affecting approximately 10% of adult population.1 In most cases,…
Adjunct Faculty: Bioinformatics – Intro to Bioinformatics, Practical Computer Concepts for job with Johns Hopkins University
Johns Hopkins University Advanced Academic Programs Biotechnology Program Adjunct Faculty: Bioinformatics (Introduction to Bioinformatics, Practical Computer Concepts for Bioinformatics, Metagenomics) Institution Description: The Advanced Academic Programs (AAP) is a division of the Krieger School of Arts and Sciences at the Johns Hopkins University (JHU). As the nation’s oldest and one…
Prevalence and Molecular Characteristics Based on Whole Genome Sequenc
Introduction Tuberculosis, caused by Mycobacterium tuberculosis, remains one of the top 10 causes of death worldwide and the leading cause of death from a single infectious agent (ranking above HIV/AIDS).1 In 2020, World Health Organization (WHO) reported that 7.1 million people with tuberculosis were newly diagnosed and notified in 2019,…
