Literature DB >> 17038455

Refractory auto-inflammatory syndrome associated with digenic transmission of low-penetrance tumour necrosis factor receptor-associated periodic syndrome and cryopyrin-associated periodic syndrome mutations.

I Touitou, C Perez, B Dumont, L Federici, C Jorgensen.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2006        PMID： 17038455      PMCID： PMC1798361          DOI： 10.1136/ard.2006.054312

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


× No keyword cloud information.
  5 in total

1.  Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes.

Authors:  M F McDermott; I Aksentijevich; J Galon; E M McDermott; B W Ogunkolade; M Centola; E Mansfield; M Gadina; L Karenko; T Pettersson; J McCarthy; D M Frucht; M Aringer; Y Torosyan; A M Teppo; M Wilson; H M Karaarslan; Y Wan; I Todd; G Wood; R Schlimgen; T R Kumarajeewa; S M Cooper; J P Vella; C I Amos; J Mulley; K A Quane; M G Molloy; A Ranki; R J Powell; G A Hitman; J J O'Shea; D L Kastner
Journal:  Cell       Date:  1999-04-02       Impact factor: 41.582

2.  Treatment of the nephrotic syndrome with etanercept in patients with the tumor necrosis factor receptor-associated periodic syndrome.

Authors:  E Drewe; E M McDermott; R J Powell
Journal:  N Engl J Med       Date:  2000-10-05       Impact factor: 91.245

3.  Interleukin-1-receptor antagonist in the Muckle-Wells syndrome.

Authors:  Philip N Hawkins; Helen J Lachmann; Michael F McDermott
Journal:  N Engl J Med       Date:  2003-06-19       Impact factor: 91.245

4.  Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome.

Authors:  H M Hoffman; J L Mueller; D H Broide; A A Wanderer; R D Kolodner
Journal:  Nat Genet       Date:  2001-11       Impact factor: 38.330

Review 5.  Identifying mutations in autoinflammatory diseases: towards novel genetic tests and therapies?

Authors:  Isabelle Touitou; Cécile Notarnicola; Sylvie Grandemange
Journal:  Am J Pharmacogenomics       Date:  2004
  5 in total
  16 in total

1.  An international external quality assessment for molecular diagnosis of hereditary recurrent fevers: a 3-year scheme demonstrates the need for improvement.

Authors:  I Touitou; C Rittore; L Philibert; J Yagüe; Y Shinar; I Aksentijevich
Journal:  Eur J Hum Genet       Date:  2009-01-28       Impact factor: 4.246

Review 2.  Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Authors:  David N Cooper; Michael Krawczak; Constantin Polychronakos; Chris Tyler-Smith; Hildegard Kehrer-Sawatzki
Journal:  Hum Genet       Date:  2013-07-03       Impact factor: 4.132

3.  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

4.  Evidence of digenic inheritance in autoinflammation-associated genes.

Authors:  Vassos Neocleous; Stefania Byrou; Meropi Toumba; Constantina Costi; Christos Shammas; Christina Kyriakou; Violetta Christophidou-Anastasiadou; George A Tanteles; Adamos Hadjipanayis; Leonidas A Phylactou
Journal:  J Genet       Date:  2016-12       Impact factor: 1.166

5.  A decision tree for genetic diagnosis of hereditary periodic fever in unselected patients.

Authors:  L Federici; C Rittore-Domingo; I Koné-Paut; C Jorgensen; M Rodière; A Le Quellec; I Touitou
Journal:  Ann Rheum Dis       Date:  2006-05-17       Impact factor: 19.103

6.  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

7.  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

8.  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

9.  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

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
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.