WordNet

(genetics) a segment of DNA that is involved in producing a polypeptide chain; it can include regions preceding and following the coding DNA as well as introns between the exons; it is considered a unit of heredity; "genes were formerly called factors" (同)cistron, factor
informal term for information; "give me the gen on your new line of computers"

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1. クリオピリン関連周期性発熱症候群および関連疾患 cryopyrin associated periodic syndromes and related disorders
2. アミロイド疾患の遺伝的要因 genetic factors in the amyloid diseases
3. IPEX：免疫不全，多腺性内分泌障害、腸疾患、X連鎖 ipex immune dysregulation polyendocrinopathy enteropathy x linked
4. 新規発症の蕁麻疹 new onset urticaria
5. 好中球増多症の患者へのアプローチ approach to the patient with neutrophilia

Effects of Anakinra on Health-Related Quality of Life in a Patient with 1129G>A/928G>A Mutations in MVK Gene and Heterozygosity for the Mutation 2107C>A in CIAS1 Gene.

Laccetta G1, Tutera M1, Miccoli M2, Consolini R1.
Frontiers in pediatrics.Front Pediatr.2017 Jun 7;5:128. doi: 10.3389/fped.2017.00128. eCollection 2017.
PMID 28638818

Delayed reactivation of chronic infantile neurologic, cutaneous, articular syndrome (CINCA) in a patient with somatic mosaicism of CIAS1/NLRP3 gene after withdrawal of anti-IL-1 beta therapy.

Paloni G1, Pastore S1, Tommasini A1, Lepore L2, Taddio A3.
Clinical and experimental rheumatology.Clin Exp Rheumatol.2015 Sep-Oct;33(5):766. Epub 2015 Aug 27.
PMID 26316056

Köseoğlu S, Özcan KM, İkincioğullari A, Cetin MA, Özdaş T, Özdaş S, Ensari S, Dere HH.
Turkish journal of medical sciences.Turk J Med Sci.2015;45(1):136-40.
BACKGROUND/AIM: To investigate cold-induced autoinflammatory syndrome 1 (CIAS 1) gene polymorphisms that cause autoinflammatory diseases in patients with nasal polyposis (NP).MATERIALS AND METHODS: The study included 30 patients diagnosed with NP and 30 healthy age-matched individuals as a control g
PMID 25790542

窪田哲朗,小池竜司
日本臨床免疫学会会誌 = Japanese journal of clinical immunology 30(2), 114-122, 2007-04-28
… Muckle-Wells症候群（MWS）は，家族性寒冷自己炎症症候群（FCAS）や慢性乳児神経皮膚関節症候群（CINCA）と同様，CIAS1遺伝子の変異によって発症する優性遺伝性疾患である．CIAS1にコードされるNALP3蛋白質は単球に強く発現しており，細胞内に侵入した微生物由来の抗原や有害な代謝産物を識別して活性化し，他の分子群と会合してinflammasomeを形成し，caspase-1を活性化する．これがpro-IL-1βを切断 …
NAID 10019495378

杉浦弘,松林正
日本臨床免疫学会会誌 = Japanese journal of clinical immunology 30(2), 108-113, 2007-04-28
… 児期に発症する蕁麻疹様皮疹，中枢神経系病変，関節病変を特徴とする自己炎症性症候群である．検査所見は白血球の増加，貧血，CRPの上昇，ESRの亢進を示す．本症候群はCIAS1遺伝子とコードする蛋白cryopyrinが関連している．CIAS1遺伝子は単球，多核白血球，軟骨細胞で発現している．突然変異したcyropyrinはIL-1βの持続的な産生とNF-κBの活性化を導き，その結果慢性的な炎症反応が起こる．抗炎症作 …
NAID 10019495347