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Journal Article
Clinical & Experimental Immunology, ISSN 0009-9104, 09/2012, Volume 169, Issue 3, pp. 253 - 262
Summary Scleroderma (SSc) is a rare connective tissue disease characterized by fibrosis, microvasculopathy and autoimmune features. The role of genetics is... 
genome‐wide | epigenetics | MeDIP | systemic autoimmunity | Epigenetics | Genome-wide | Systemic autoimmunity | CELLS | SYSTEMIC-LUPUS-ERYTHEMATOSUS | DNA METHYLATION | RNA | SCLEROSIS | IMMUNOLOGY | FIBROBLASTS | genome-wide | JAPANESE POPULATION | AUTOIMMUNE-DISEASE | EXPRESSION | GENOME-WIDE ASSOCIATION | Genetic Predisposition to Disease | Chromosomes, Human, X - genetics | Diseases in Twins - genetics | Chromosomes, Human, X - chemistry | Genetic Association Studies | Oligonucleotide Array Sequence Analysis | Twins, Monozygotic - genetics | Genes, X-Linked - genetics | Humans | Middle Aged | Scleroderma, Systemic - genetics | Chromosome Mapping | Promoter Regions, Genetic - genetics | DNA Methylation | CpG Islands | Adult | Female | Lymphocytes - chemistry | Anopheles | Systemic scleroderma | Lymphocytes | Analysis | Genes | Genomics | Scleroderma (Disease) | Genetic research | Disease susceptibility | DNA binding proteins | Genetic transcription | Methylation | Twins | Scleroderma | Chromosomes | Cell proliferation | surface antigens | Oxidative stress | Sex chromosomes | Transcription factors | Immunoprecipitation | Connective tissue diseases | X chromosome | Environmental factors | Inflammation | Promoters | DNA | Fibrosis | Interleukin 1 | DNA methylation | Peripheral blood mononuclear cells | Apoptosis | Original
Journal Article
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2018, Volume 8, Issue 1, pp. 2398 - 7
Nance-Horan syndrome is a rare X-linked recessive inherited disease with clinical features including severe bilateral congenital cataracts, characteristic... 
CONGENITAL CATARACT | MULTIDISCIPLINARY SCIENCES | X-LINKED CATARACT | MUTATION | JUNCTIONS | DISEASE | SYNDROME PROTEIN |