Literature DB >> 17934081

Coexistent MEFV and CIAS1 mutations manifesting as familial Mediterranean fever plus deafness.

Davinder Singh-Grewal, Jeffrey Chaitow, Ivona Aksentijevich, John Christodoulou.   

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Year:  2007        PMID： 17934081      PMCID： PMC2111617          DOI： 10.1136/ard.2007.075655

Source DB:  PubMed          Journal:  Ann Rheum Dis        ISSN： 0003-4967            Impact factor:   19.103


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  7 in total

Review 1.  Autosomal recessive nonsyndromic hearing loss.

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2.  Tissue-specific insulin resistance in mice with mutations in the insulin receptor, IRS-1, and IRS-2.

Authors:  Y Kido; D J Burks; D Withers; J C Bruning; C R Kahn; M F White; D Accili
Journal:  J Clin Invest       Date:  2000-01       Impact factor: 14.808

3.  A complex case of renal amyloidosis with a rare co-occurrence of 2 mutations in separate hereditary periodic fever syndrome-related genes.

Authors:  Alessandro Cigni; Franca Ledda; Andrea E Satta
Journal:  J Nephrol       Date:  2006 Jul-Aug       Impact factor: 3.902

4.  Synergistic heterozygosity in mice with inherited enzyme deficiencies of mitochondrial fatty acid beta-oxidation.

Authors:  A Michele Schuler; Barbara A Gower; Dietrich Matern; Piero Rinaldo; Jerry Vockley; Philip A Wood
Journal:  Mol Genet Metab       Date:  2005-02-16       Impact factor: 4.797

5.  Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes.

Authors:  Jérôme Feldmann; Anne-Marie Prieur; Pierre Quartier; Patrick Berquin; Stephanie Certain; Elisabetta Cortis; Dominique Teillac-Hamel; Alain Fischer; Genevieve de Saint Basile
Journal:  Am J Hum Genet       Date:  2002-05-24       Impact factor: 11.025

6.  The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model.

Authors:  Ivona Aksentijevich; Christopher D Putnam; Hal M Hoffman; Daniel L Kastner; Elaine F Remmers; James L Mueller; Julie Le; Richard D Kolodner; Zachary Moak; Michael Chuang; Frances Austin; Raphaela Goldbach-Mansky
Journal:  Arthritis Rheum       Date:  2007-04

7.  Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition.

Authors:  Raphaela Goldbach-Mansky; Natalie J Dailey; Scott W Canna; Ana Gelabert; Janet Jones; Benjamin I Rubin; H Jeffrey Kim; Carmen Brewer; Christopher Zalewski; Edythe Wiggs; Suvimol Hill; Maria L Turner; Barbara I Karp; Ivona Aksentijevich; Frank Pucino; Scott R Penzak; Margje H Haverkamp; Leonard Stein; Barbara S Adams; Terry L Moore; Robert C Fuhlbrigge; Bracha Shaham; James N Jarvis; Kathleen O'Neil; Richard K Vehe; Laurie O Beitz; Gregory Gardner; William P Hannan; Robert W Warren; William Horn; Joe L Cole; Scott M Paul; Philip N Hawkins; Tuyet Hang Pham; Christopher Snyder; Robert A Wesley; Steven C Hoffmann; Steven M Holland; John A Butman; Daniel L Kastner
Journal:  N Engl J Med       Date:  2006-08-10       Impact factor: 91.245
  7 in total
  12 in total

1.  In vitro analysis of the functional effects of an NLRP3 G809S variant with the co-existence of MEFV haplotype variants in atypical autoinflammatory syndrome.

Authors:  Kazuo Kubota; Hidenori Ohnishi; Takahide Teramoto; Eiko Matsui; Kana Murase; Hiroyuki Kanoh; Zenichiro Kato; Hideo Kaneko; Mariko Seishima; Naomi Kondo
Journal:  J Clin Immunol       Date:  2012-09-27       Impact factor: 8.317

2.  Overlap of familial Mediterranean fever and hyper-IgD syndrome in an Arabic kindred.

Authors:  Taha Moussa; Buthaina Aladbe; Rowaida Z Taha; Elaine F Remmers; Hatem El-Shanti; Basil M Fathalla
Journal:  J Clin Immunol       Date:  2015-02-24       Impact factor: 8.317

3.  Familial mediterranean Fever: a retrospective clinical and molecular study in the East of anatolia region of Turkey.

Authors:  Ebru Onalan Etem; Ebru Etem; Sukriye Derya Deveci; Deniz Erol; Huseyin Yuce; Halit Elyas
Journal:  Open Rheumatol J       Date:  2010-01-29

4.  Clinical features and functional significance of the P369S/R408Q variant in pyrin, the familial Mediterranean fever protein.

Authors:  J G Ryan; S L Masters; M G Booty; N Habal; J D Alexander; B K Barham; E F Remmers; K S Barron; D L Kastner; I Aksentijevich
Journal:  Ann Rheum Dis       Date:  2009-11-23       Impact factor: 19.103

5.  Clinical and genetic profile of children with periodic fever syndromes from a single medical center in South East Michigan.

Authors:  Shanmuganathan Chandrakasan; Saurabh Chiwane; Matthew Adams; Basil M Fathalla
Journal:  J Clin Immunol       Date:  2014-01       Impact factor: 8.317

6.  Familial Mediterranean fever with a single MEFV mutation: where is the second hit?

Authors:  Matthew G Booty; Jae Jin Chae; Seth L Masters; Elaine F Remmers; Beverly Barham; Julie M Le; Karyl S Barron; Steve M Holland; Daniel L Kastner; Ivona Aksentijevich
Journal:  Arthritis Rheum       Date:  2009-06

Review 7.  A clinical guide to autoinflammatory diseases: familial Mediterranean fever and next-of-kin.

Authors:  Seza Ozen; Yelda Bilginer
Journal:  Nat Rev Rheumatol       Date:  2013-11-19       Impact factor: 20.543

8.  The Q705K polymorphism in NLRP3 is a gain-of-function alteration leading to excessive interleukin-1β and IL-18 production.

Authors:  Deepti Verma; Eva Särndahl; Henrik Andersson; Per Eriksson; Mats Fredrikson; Jan-Ingvar Jönsson; Maria Lerm; Peter Söderkvist
Journal:  PLoS One       Date:  2012-04-17       Impact factor: 3.240

9.  An autoinflammatory neurological disease due to interleukin 6 hypersecretion.

Authors:  Ettore Salsano; Ambra Rizzo; Gloria Bedini; Loris Bernard; Valentina Dall'olio; Sara Volorio; Monica Lazzaroni; Isabella Ceccherini; Dejan Lazarevic; Davide Cittaro; Elia Stupka; Rosina Paterra; Laura Farina; Mario Savoiardo; Davide Pareyson; Francesca L Sciacca
Journal:  J Neuroinflammation       Date:  2013-02-21       Impact factor: 8.322

10.  Clinical characteristics in subjects with NLRP3 V198M diagnosed at a single UK center and a review of the literature.

Authors:  Dorota M Rowczenio; Hadija Trojer; Tonia Russell; Anna Baginska; Thirusha Lane; Nicola M Stewart; Julian D Gillmore; Philip N Hawkins; Patricia Woo; Bozena Mikoluc; Helen J Lachmann
Journal:  Arthritis Res Ther       Date:  2013-02-19       Impact factor: 5.156
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