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Found 16 results

  1. Human Leukocyte Antigen (HLA) and Autoantibodies Define Scleroderma Subtypes and Risk in African and European Americans and Suggest a Role for Molecular Mimicry. These data suggest a possible link between HLA alleles, autoantibodies, and environmental triggers in the pathogenesis of systemic scleroderma. PubMed, Proc Natl Acad Sci U S A, 2020 Jan 7;117(1):552-562. (Also see Ethnicity, Race and Geographical Regions) This item was posted in the ISN Newsroom. Please check the newsroom daily for updates on scleroderma and other related articles.
  2. Defining genetic risk factors for scleroderma-associated interstitial lung disease (SSc-ILD) : IRF5 and STAT4 gene variants are associated with scleroderma while STAT4 is protective against scleroderma-associated interstitial lung disease. Further work is required to understand the genetic basis of lung fibrosis in association with scleroderma. PubMed, Clin Rheumatol, 01/08/2020. (Also see Pulmonary Fibrosis Diagnosis and Genetics) This item was posted in the ISN Newsroom. Please check the newsroom daily for updates on scleroderma and other related articles.
  3. Genetic Interactions Affect Lung Function in Patients with Systemic Sclerosis. We identified a three-gene network comprising WNT5A, RBMS3 and MSI2, which in combination influenced multiple pulmonary pathology measures. PubMed, G3 (Bethesda), 11/06/2019. (Also see Genetics and Pulmonary Fibrosis Diagnosis) This item was posted in the ISN Newsroom. Please check the newsroom daily for updates on scleroderma and other related articles.
  4. Genetic variation at the glycosaminoglycan metabolism pathway contributes to the risk of psoriatic arthritis (PsA) but not psoriasis. These findings provide insights into the biological mechanisms that are specific for PsA and could contribute to develop more effective therapies. PubMed, Ann rheumatologist Dis, 2019 Mar;78(3). (Also see Psoriasis and Psoriatic Arthritis) This item was posted in the ISN Newsroom. Please check the newsroom daily for updates on scleroderma and other related articles. 
  5. Gene–function studies in systemic lupus erythematosus (SLE). The work discussed in this review has broad implications for our understanding of the pathogenesis of SLE and for the development of novel therapeutic strategies. PubMed, Curr Opin Rheumatol, 2019 Mar;31(2):185-192. (Also see Causes of Lupus) This item was posted in the ISN Newsroom. Please check the newsroom daily for updates on scleroderma and other related articles.
  6. Mutations of FAM111B gene are not associated with Systemic Sclerosis (SSc). One rare variant was found in a patient with SSc but has no functional or structural impact on the FAM111B gene. PubMed, Sci Rep, 2018 Oct 30;8(1):15988. (Also see Genetics) This item was posted in the ISN Newsroom. Please check the newsroom daily for updates on scleroderma and other related articles.
  7. The Results of Your Genetic Test Are Reassuring, But That Can Change. Laboratories frequently "reclassify" genetic mutations, but here is no reliable system for telling patients or doctors that the results of their genetic tests are no longer valid. New York Times, 10/16/2018. (Also see Genetics) This item was posted in the ISN Newsroom. Please check the newsroom daily for updates on scleroderma and other related articles.
  8. Genes behind deadly heart condition found, scientists say. Scientists say they have identified genes that cause a deadly heart condition that can only be cured by transplants of the heart or lungs. BBC News, 04/15/2018. (Also see Causes of Pulmonary Hypertension) This item was posted in the ISN Newsroom. Please check the newsroom daily for updates on scleroderma and other related articles.
  9. What’s Behind Many Mystery Ailments? Genetic Mutations, Study Finds. A new study suggests that many disorders go undetected and a team of scientists has found that 3.7 percent of patients in a hospital system carried a genetic variant linked to a disease. New York Times, 03/15/2018. (Also see Genetics) This item was posted in the ISN Newsroom. Please check the newsroom daily for updates on scleroderma and other related articles.
  10. FOXP3, ICOS and ICOSL gene polymorphisms in systemic sclerosis (SSc). This study provides evidence of the association of rs2294020 with SSc evolution in female patients, while no effect on SSc susceptibility per se was found. PubMed, Immunobiology, 2018 Jan;223(1):112-117. (Also see Genetics) This item was posted in the ISN Newsroom. Please check the newsroom daily for updates on scleroderma and other related articles.
  11. Scientists Have Made Their First Attempt at Gene Editing Inside a Human Patient. Scientists for the first time have tried editing a gene inside the body in a bold attempt to permanently change a person’s DNA to try to cure a disease. Time Healthland, 11/15/2017. (Also see Genetics) This item was posted in the ISN Newsroom. Please check the newsroom daily for updates on scleroderma and other related articles.
  12. Scientists edit embryos' genes to study early human development. British scientists have used a genome editing tool known as CRISPR/Cas9 to knock out a gene in embryos just a few days old. Reuters Health, 09/20/2017. (Also see Genetics) This item was posted in the ISN Newsroom. Please check the newsroom daily for updates on scleroderma and other related articles.
  13. Limited cutaneous systemic sclerosis (lcSSc) skin demonstrates distinct molecular subsets separated by a cardiovascular development gene expression signature. Our study suggests the presence of molecular subsets in lcSSc based on gene expression profiling of biopsies from uninvolved skin. PubMed, Arthritis Res Ther, 2017 Jul 4;19(1):156. (Also see Genetics) This item was posted in the ISN Newsroom. Please check the newsroom daily for updates on scleroderma and other related articles.
  14. Transethnic meta–analysis identifies GSDMA and PRDM1 as susceptibility genes to systemic sclerosis. GSDMA and PRDM1 are associated with SSc. These findings provide enhanced insight into the genetic and biological basis of Ssc. PubMed, Ann rheumatologist Dis, 2017 Jun;76(6):1150-1158. (Also see Genetics) This item was posted in the ISN Newsroom. Please check the newsroom daily for updates on scleroderma and other related articles.
  15. Forty More Genes for Intelligence Discovered. Researchers said they have found 40 new genes linked with intelligence, but they say their finding doesn't show any clear genetic pattern for intelligence. NBC News, 05/22/2017. (Also see Genetics) This item was posted in the ISN Newsroom. Please check the newsroom daily for updates on scleroderma and other related articles.
  16. Epigenetics in Reactive and Reparative Cardiac Fibrogenesis: The Promise of Epigenetic Therapy. Multiple studies have investigated the molecular basis of organ fibrosis and highlighted its multi–factorial genetic, epigenetic and environmental regulation. PubMed, J Cell Physiol, 11/24/2016. (Also see Causes of Scleroderma: Genetics) This item was posted in the ISN Newsroom. Please check the newsroom daily for updates on scleroderma and other related articles.
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