نتایج جستجو برای: mefv mutation

تعداد نتایج: 292011  

Journal: :Rheuma plus 2022

Zusammenfassung Das familiäre Mittelmeerfieber (FMF) ist die häufigste autoinflammatorische Erkrankung und gehört zu den monogenetischen Fiebersyndromen. Die beruht auf einer Mutation des MEFV -Gens; dieses dem kurzen Arm von Chromosom 16 lokalisiert kodiert für das Protein Pyrin. Pyrin aktiviert über mehrere Schritte eine erhöhte Ausschüttung der proinflammatorischen Zytokine Interleukin (IL)‑...

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Journal: :ACTA MEDICA IRANICA 2019

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Journal: :Human molecular genetics 2009
Sylvie Grandemange Stephan Soler Isabelle Touitou

Mutations in the MEditerranean FeVer (MEFV) gene are responsible for familial Mediterranean fever (FMF), a recessively inherited auto-inflammatory disease. Cases of dominant inheritance and phenotype-genotype heterogeneity have been reported; however, the underlying molecular mechanism is not currently understood. The FMF protein named pyrin or marenostrin (P/M) is thought to be involved in reg...

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Journal: :Pediatric Rheumatology 2015

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Journal: :Reumatismo 2019

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2013
S Federici S Ozen I Koné-Paut H Lachmann P Woo L Cantarini G Amaryan A Insalaco J Kuemmerle-Deschner B Neven N Dewarrat Y Uziel D Rigante T Herlin S Martino A Simon S Stojanov H Ozdogan J Frenkel N Ruperto A Martini M Sormani M Hofer M Gattorno

Methods All FMF, TRAPS, MKD and CAPS patients enrolled in the Eurofever registry until March 2013 were evaluated. For each disease gold standards were considered according to the following criteria: i) clinical validation by centers and disease-principal investigator, ii) confirmative molecular analysis (2 mutations for MEFV with at least one mutation in exon 10, 2 mutations of MVK gene, 1 muta...

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2013
S Federici S Ozen I Koné-Paut H Lachmann P Woo L Cantarini G Amaryan A Insalaco J Kuemmerle-Deschner B Neven N Dewarrat Y Uziel D Rigante T Herlin S Martino A Simon S Stojanov H Ozdogan J Frenkel N Ruperto A Martini MP Sormani M Hofer M Gattorno

Methods All FMF, TRAPS, MKD and CAPS patients enrolled in the Eurofever registry until March 2013 were evaluated. For each disease gold standards were considered according to the following criteria: i) clinical validation by centers and disease-principal investigator, ii) confirmative molecular analysis (2 mutations for MEFV with at least one mutation in exon 10, 2 mutations of MVK gene, 1 muta...

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ژورنال: مجله دانشگاه علوم پزشکی زنجان 2007
رضایی, هانیه, رفیعی, ماندانا, صومی, محمد حسین, فرج نیا, صفر, محمدنژاد, لیلا, میرزااحمدی, سینا, نخلبند, آیلار,

Background & objective: FMF is an autosomal recessive genetic disorder characterized by acute episodes of fever accompanied by severe abdominal pain, pleurisy, arthritis, and skin rashes. Clinical symptoms of the disease vary considerably in patients, and little is known about the origin of this variation. This study investigates a male patient suffering from severe FMF and his parents. Materia...

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2013
K Nazaryan G Arakelov

Introduction Mutations M680I, M694V and V726A of Pyrin the product of MEFV gene are localized at the domain B30.2 (PB30.2D) and responsible for manifestation of the most widespread and severe forms of FMF. From the other hand, it is well known that malfunction of the pyrin-caspase-1complex is the main reason for inflammation during FMF. Therefore, we suggest that comparative investigation of no...

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2015
I Jéru L Van Eyck V Lagou J Ruuth-Praz B Copin E Cochet A Liston A Goris S Amselem C Wouters

Introduction Autoinflammatory disorders are a group of diseases whose nosology and etiology are only partly understood. Among Mendelian forms, familial Mediterranean fever (FMF), due to mutations in MEFV, is one of the most frequent. Most MEFV mutations are located in exon 10 and are usually associated with an autosomal recessive mode of inheritance. MEFV encodes pyrin, which interacts with PST...

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