Early-onset sarcoidosis and NOD2: Summary on genetic analysis of Japanese 10 cases
| العنوان: | Early-onset sarcoidosis and NOD2: Summary on genetic analysis of Japanese 10 cases |
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| المؤلفون: | Tatsutoshi Nakahata, Toshio Heike, Akihiro Fujisawa, Naotomo Kambe, Ryuta Nishikomori, Nobuo Kanazawa, Yoshiki Miyachi, Ikuo Okafuji |
| المصدر: | Ensho Saisei. 25:169-172 |
| بيانات النشر: | Japanese Society of Inflammation and Regeneration, 2005. |
| سنة النشر: | 2005 |
| مصطلحات موضوعية: | business.industry, medicine.disease, Genetic analysis, digestive system diseases, chemistry.chemical_compound, chemistry, Genetic etiology, NOD2, Immunology, medicine, Missense mutation, Early-Onset Sarcoidosis, Sarcoidosis, business, Blau syndrome, Muramyl dipeptide |
| الوصف: | Early-onset sarcoidosis (EOS) is juvenile-onset systemic granulomatosis that mainly affects skin, joints and eyes. Recent discovery of NOD2 mutations in the familial systemic granulomatosis, Blau syndrome, encouraged us to investigate NOD2 mutations in EOS patients reported in Japan. Among 10 cases, heterozygous missense mutations were found in 9 cases; 4 showed R334W that has been typically reported in Blau syndrome, and 5 showed novel H496L, M513T, T605P, N670K, and D382E. All these 6 variants of NOD2 showed increased nuclear factor(NF)-kappaB activity without its ligand, such as muramyl dipeptide. These findings indicate that the majority of EOS cases reported in Japan shows the genetic etiology of NOD2 mutations that cause constitutive NF-kappaB activation. |
| تدمد: | 1880-5795 1346-8022 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_________::706f1512b82296d0707783778c8e0958Test https://doi.org/10.2492/jsir.25.169Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi...........706f1512b82296d0707783778c8e0958 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 18805795 13468022 |
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