Showing 81 - 100 results of 206 for search '"human genome"', query time: 0.06s Refine Results
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    Human microbiome, applied to clinical practice by V. T. Ivashkin, K. V. Ivashkin

    Published 2018-08-01
    “…The Human microbiome project was designed for identification and characterization of set of human microorganisms as well as for studying the changes in the human health due to microbiome changes. The Human Genome Project assumes: development of the human genome variations database (HapMap; Human Variome Project), interpretation of human phenotype differences (Encyclopedia Of DNA Elements), modeling of human phenomenon (RECON), interpretation of epigenetic variants and hereditary changes in phenotypical manifestations. …”
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  6. 86

    Increased DNA Copy Number Variation Mosaicism in Elderly Human Brain by Darine Villela, Claudia K. Suemoto, Renata Leite, Carlos Augusto Pasqualucci, Lea T. Grinberg, Peter Pearson, Carla Rosenberg

    Published 2018-01-01
    “…CNVs represent a significant source of genetic variation in the human genome and have been implicated in several disorders and complex traits, representing a potential mechanism that contributes to neuronal diversity and the etiology of several neurological diseases and provides new insights into the normal, complex functions of the brain. …”
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    The Impact of Transposable Elements in Genome Evolution and Genetic Instability and Their Implications in Various Diseases by Selvam Ayarpadikannan, Heui-Soo Kim

    Published 2014-09-01
    “…Approximately 45% of the human genome is comprised of transposable elements (TEs). …”
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    SNP_TATA_COMPARATOR: Web SERVICE FOR COMPARISON OF SNPs WITHIN GENE PROMOTЕRS ASSOCIATED WITH HUMAN DISEASES USING THE EQUILIBRIUM EQUATION OF THE TBP/TATA COMPLEX by D. A. Rasskazov, K. V. Gunbin, P. M. Ponomarenko, O. V. Vishnevsky, M. P. Ponomarenko, D. A. Afonnikov

    Published 2015-01-01
    “…Data of individual deviations from the reference human genome (Ensembl, rel. 68, i.e. the variant of human genome commonly accepted as datum in comparison analysis) are accessible for free in the real-time mode. …”
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    Obstacles to Early Diagnosis of Gaucher Disease by Nishimura S, Ma C, Sidransky E, Ryan E

    Published 2025-01-01
    “…Samantha Nishimura,* Charis Ma,* Ellen Sidransky, Emory Ryan National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA*These authors contributed equally to this workCorrespondence: Ellen Sidransky, National Human Genome Research Institute, National Institutes of Health, Building 35A -1E623 Convent Drive, MSC 3708, Bethesda, MD, 20892-3708, USA, Tel +1-301-451-0901, Fax +301-402-6438, Email sidranse@nih.govAbstract: Gaucher disease (GD) is a rare lysosomal storage disorder resulting from a deficiency of the lysosomal enzyme glucocerebrosidase caused by biallelic variants in the GBA1 gene. …”
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    Structural Variation of Element and Human Disease by Songmi Kim, Chun-Sung Cho, Kyudong Han, Jungnam Lee

    Published 2016-09-01
    “…Alu element is frequently involved in genomic rearrangements in the human genome due to its abundance and sequence identity between them. …”
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    GENOME POLITICS: STRATEGY AND TACTICS by Jonas Rubikas

    Published 1999-01-01
    “…Is there any difference between human genome and genome for human? Genome controls directly or indirectly all human functions: body structure, physiology. …”
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    Albinism in the Ancient Mediterranean World by John L. Hilton

    Published 2021-05-01
    “… The discovery of DNA in the 20th century and recent biomedical research into the human genome in Southern Africa have shed much light on the diag-nostic, epidemiological, and sociological aspects of albinism. …”
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    Principles of Medical Biochemistry / by Meisenberg, Gerhard

    Published 2017
    Table of Contents: “…Introduction to biomolecules -- Introduction to protein structure -- Oxygen-binding proteins : hemoglobin and myoglobin -- Enzymatic reactions -- Coenzymes -- DNA, RNA, and protein synthesis -- The human genome -- Protein targeting and proteostasis -- Introduction to genetic diseases -- Viruses -- DNA technology -- Biological membranes -- The cytoskeleton -- The extracellular matrix -- Extracellular messengers -- Intracellular messengers -- Plasma proteins -- Defense mechanisms -- Cellular growth control and cancer -- Digestive enzymes -- Introduction to metabolic pathways -- Glycolysis, tricarboxylic acid cycle, and oxidative phosphorylation -- Oxygen deficiency and oxygen toxicity -- Carbohydrate metabolism -- The metabolism of fatty acids and triglycerides -- The metabolism of membrane lipids -- Lipid transport -- Amino acid metabolism -- Metabolism of iron and heme -- The metabolism of purines and pyrimidines -- Micronutrients -- Integration of metabolism.…”
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