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Human genomics, ISSN 1479-7364, 2018, Volume 12, Issue 1, pp. 45 - 14
We aimed to clarify the emerging epigenetic landscape in a group of genes classified as "modifier genes" of the beta-type globin genes (HBB cluster), known to... 
SCA/β-thal heterozygotes | HBB cluster "modifying genes" | Hydroxyurea treatment | SCA homozygotes | HBB cluster “modifying genes” | HbF induction | Epigenetic regulation | TRANSCRIPTION FACTORS | SCA/beta-thal heterozygotes | DNA METHYLATION | BCL11A | ERYTHROID-CELLS | FETAL-HEMOGLOBIN INDUCTION | HYDROXYCARBAMIDE | HUMAN GENOME | GENE | SICKLE-CELL-ANEMIA | GENETICS & HEREDITY | BETA-THALASSEMIA | Anemia, Sickle Cell - pathology | beta-Thalassemia - pathology | Humans | beta-Thalassemia - genetics | Male | Anemia, Sickle Cell - drug therapy | Female | Nuclear Proteins - genetics | GATA2 Transcription Factor - genetics | beta-Thalassemia - blood | MAP Kinase Kinase Kinase 5 - genetics | Repressor Proteins - genetics | Hydroxyurea - administration & dosage | DNA Methylation - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | beta-Globins - genetics | Gene Expression Regulation - drug effects | beta-Thalassemia - drug therapy | Carrier Proteins - genetics | Hydroxyurea - adverse effects | Heterozygote | Anemia, Sickle Cell - blood | DNA Methylation - drug effects | Kruppel-Like Transcription Factors - genetics | Anemia, Sickle Cell - genetics | Transcription factors | Sickle cell anemia | Disease | Heterozygotes | Hydroxyurea | Genomes | Hematopoietic stem cells | Proteins | Developmental stages | DNA methylation | Hemoglobin | Sickle cell disease | Deoxyribonucleic acid--DNA | CpG islands | Hemoglobinopathy | Genetic disorders | Fetuses | Thalassemia | FDA approval | Gene expression | Embryos | Patients | Hemopoiesis | Homozygotes | MicroRNAs | Stem cells | Epigenetics | Binding sites
Journal Article
The New England journal of medicine, ISSN 1533-4406, 2016, Volume 374, Issue 12, pp. 1123 - 1133
Journal Article
The New England journal of medicine, ISSN 1533-4406, 2017, Volume 377, Issue 21, pp. 2024 - 2035
Journal Article
Science (American Association for the Advancement of Science), ISSN 1095-9203, 2007, Volume 317, Issue 5844, pp. 1522 - 1527
Some Toll and Toll-like receptors (TLRs) provide immunity to experimental infections in animal models, but their contribution to host defense in natural... 
T lymphocytes | Double stranded RNA | Memory interference | Cell lines | Central nervous system | Fibroblasts | Human herpesvirus 1 | Viruses | Infections | Research Articles | Genetic mutation | TOLL-LIKE RECEPTOR-3 | DOUBLE-STRANDED-RNA | ACTIVATION | VIRUS | NK CELLS | RECOGNITION | GENE | ALPHA/BETA | MULTIDISCIPLINARY SCIENCES | EXPRESSION | T-LYMPHOCYTES | Interferons - biosynthesis | Encephalitis, Herpes Simplex - immunology | Dendritic Cells - immunology | Humans | Child, Preschool | Infant | Herpesvirus 1, Human - physiology | Genes, Dominant | Toll-Like Receptor 3 - deficiency | Leukocytes, Mononuclear - immunology | Killer Cells, Natural - immunology | Encephalitis, Herpes Simplex - genetics | Female | Toll-Like Receptor 3 - genetics | Fibroblasts - metabolism | Fibroblasts - virology | Cell Line | Poly I-C - pharmacology | Immunity, Innate | Keratinocytes - immunology | Toll-Like Receptor 3 - physiology | Alleles | Fibroblasts - immunology | Heterozygote | Toll-Like Receptor 3 - chemistry | Mutation | CD8-Positive T-Lymphocytes - immunology | Receptors | Research | Immunity | Health aspects | Herpes simplex encephalitis | Encephalitis | Infectious diseases | Immunology | Gene expression | Herpes viruses | Encephalitis, Herpes Simplex | Toll-Like Receptor 3 | Killer Cells, Natural | Dendritic Cells | Interferons | Keratinocytes | Leukocytes, Mononuclear | Immunity, Natural | Herpesvirus 1, Human | CD8-Positive T-Lymphocytes | Life Sciences | Poly I-C
Journal Article
The New England journal of medicine, ISSN 1533-4406, 2014, Volume 371, Issue 1, pp. 32 - 41
Journal Article
Human mutation, ISSN 1098-1004, 2009, Volume 30, Issue 6, pp. 857 - 859
Recent advances in fluorescent dyes, methods, instruments and software for DNA melting analysis have created versatile new tools for variant scanning and... 
HRM | snapback primer | variant detection | Heterozygote scanning | HRMA | Snapback primer | Variant detection | VARIANTS | GENE | SMALL AMPLICONS | GENETICS & HEREDITY | Homozygote | Nucleic Acid Denaturation | Heterozygote | DNA Mutational Analysis | Biochemistry - methods | Humans
Journal Article
The New England journal of medicine, ISSN 1533-4406, 2011, Volume 365, Issue 25, pp. 2377 - 2388
The authors report that INF2 mutations are present in patients with focal segmental glomerulosclerosis (FSGS) associated with Charcot–Marie–Tooth neuropathy.... 
GLOMERULOSCLEROSIS | MEDICINE, GENERAL & INTERNAL | MYELIN | PROTEIN | NEUROPATHY | EPITHELIAL-CELLS | GENE | RHO | MEDIATED TRANSPORT | FORMIN | NEPHROPATHY | Humans | Middle Aged | Proteolipids - metabolism | Actins - metabolism | Male | Charcot-Marie-Tooth Disease - genetics | Young Adult | Kidney - metabolism | Glomerulosclerosis, Focal Segmental - etiology | Myelin and Lymphocyte-Associated Proteolipid Proteins | Adult | Female | Membrane Transport Proteins - metabolism | Microfilament Proteins - metabolism | Child | Microfilament Proteins - genetics | Charcot-Marie-Tooth Disease - complications | Schwann Cells - metabolism | Phenotype | Animals | Adolescent | Age of Onset | Heterozygote | Mice | Mutation | Myelin Proteins - metabolism | Glomerulonephritis | Gene mutations | Charcot-Marie-Tooth disease | Causes of | Genetic aspects | Research | Myelin proteins | Cdc42 protein | Disease | Exons | Genes | Amino acids | Nervous system | Neuropathy | Guanine nucleotide-binding protein | Proteins | Myelin P0 protein | Peripheral myelin protein 22 | Localization | Deoxyribonucleic acid--DNA | Kidneys | Schwann cells | Polymerization | Guanosine triphosphatases | Myelination | Genotyping | Biopsy | Glomerulus | Cytoskeleton | Genetic testing | Cytoplasm | Schwann Cells | Genomics | Kidney | Charcot-Marie-Tooth Disease | Life Sciences | Proteolipids | Biochemistry, Molecular Biology | Actins | Microfilament Proteins | Membrane Transport Proteins | Myelin Proteins | Glomerulosclerosis, Focal Segmental
Journal Article
Clinical Rheumatology, ISSN 0770-3198, 6/2018, Volume 37, Issue 6, pp. 1683 - 1687
Journal Article
Journal Article