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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
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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Trigeminal Neuralgia, Glossopharyngeal Neuralgia, and Myofascial Pain Dysfunction Syndrome: An Update
Published 2017-01-01Get full text
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103
Obstacles to Early Diagnosis of Gaucher Disease
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
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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Craniodentofacial Manifestations in a Rare Syndrome: Orofaciodigital Type IV (Mohr-Majewski Syndrome)
Published 2014-01-01Get full text
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GENOME POLITICS: STRATEGY AND TACTICS
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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Two Novel Mutations Identified in an African-American Child with Chediak-Higashi Syndrome
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Albinism in the Ancient Mediterranean World
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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GENOME POLITICS: STRATEGY AND TACTICS
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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Principles of Medical Biochemistry /
Published 2017Table 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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Disease-associated genetic variants in the regulatory regions of human genes: mechanisms of action on transcription and genomic resources for dissecting these mechanisms
Published 2021-03-01“…Most of the variants identified by the GWAS technique are located in the noncoding regions of the human genome. According to the ENCODE project, the fraction of regions in the human genome potentially involved in transcriptional control is many times greater than the fraction of coding regions. …”
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Human phospholipases A2: a functional and evolutionary analysis
Published 2023-01-01“…Localization of the PLA2 genes in human genome showed they are placed on 12 human chromosomes, some of them forming clusters. …”
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International encyclopaedia of laws : Uganda /
Published 2021Table of Contents: “…Codex volumes : Bio-ethics (general) -- Human genome/cloning/human reproduction -- Removal and use of organs, cells and tissues -- Medical research on human beings -- Mental illness and psychiatry -- End of life -- The medical profession and the health care system -- Patients' rights.…”
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Perspectives of International Human Epigenome Consortium
Published 2013-03-01“…As the International Human Epigenome Consortium (IHEC) launched officially at the 2010 Washington meeting, a giant step toward the conquest of unexplored regions of the human genome has begun. IHEC aims at the production of 1,000 reference epigenomes to the international scientific community for next 7-10 years. …”
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Substrates, regulation, cellular functions, and disease associations of P4-ATPases
Published 2025-01-01“…These enzymes are conserved across all eukaryotes, and the human genome encodes 14 distinct P4-ATPases. Initially identified as aminophospholipid translocases, P4-ATPases have since been found to translocate other phospholipids, including phosphatidylcholine, phosphatidylinositol, and even glycosphingolipids. …”
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Pharmacogenomics predictors of aromatic antiepileptic drugs-induced SCARs in the Iraqi patients
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DNA Methylation: Its Role and Interaction with Epigenetic Modifications in Cancer
Published 2025-01-01“…DNMTs play a central role in the epigenetic regulation of the human genome, both in normal and pathological processes. …”
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