Literature DB >> 35229164

Cryopyrin-associated Periodic Syndrome in a Family with NLRP3 A441V Mutation.

Ken Shiraishi1, Koji Sayama2.   

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Year:  2022        PMID： 35229164      PMCID： PMC9574674          DOI： 10.2340/actadv.v102.2077

Source DB:  PubMed          Journal:  Acta Derm Venereol        ISSN： 0001-5555            Impact factor:   3.875


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  8 in total

1.  Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever.

Authors:  H M Hoffman; A A Wanderer; D H Broide
Journal:  J Allergy Clin Immunol       Date:  2001-10       Impact factor: 10.793

2.  PYPAF7, a novel PYRIN-containing Apaf1-like protein that regulates activation of NF-kappa B and caspase-1-dependent cytokine processing.

Authors:  Lin Wang; Gulam A Manji; Jill M Grenier; Amal Al-Garawi; Sarah Merriam; Jose M Lora; Brad J Geddes; Michael Briskin; Peter S DiStefano; John Bertin
Journal:  J Biol Chem       Date:  2002-05-17       Impact factor: 5.157

3.  Interleukin-17 expression in the urticarial rash of familial cold autoinflammatory syndrome: a case report.

Authors:  A Yamauchi; H Iwata; H Ohnishi; T Teramoto; N Kondo; M Seishima
Journal:  Br J Dermatol       Date:  2010-11-04       Impact factor: 9.302

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

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.  Role of IL-1 beta in the development of human T(H)17 cells: lesson from NLPR3 mutated patients.

Authors:  Denise Lasigliè; Elisabetta Traggiai; Silvia Federici; Maria Alessio; Antonella Buoncompagni; Andrea Accogli; Sabrina Chiesa; Federica Penco; Alberto Martini; Marco Gattorno
Journal:  PLoS One       Date:  2011-05-26       Impact factor: 3.240

7.  A Rare Case of Cryopyrin-associated Periodic Syndrome in an Elderly Woman with NLRP3 and MEFV Mutations.

Authors:  Seiko Nakamichi; Tomoki Origuchi; Shoichi Fukui; Aya Yoda; Hiroshi Matsubara; Yuki Nagaura; Ryuta Nishikomori; Kuniko Abe; Kiyoshi Migita; Noriho Sakamoto; Atsushi Kawakami; Yoshiyuki Ozono; Takahiro Maeda
Journal:  Intern Med       Date:  2018-12-18       Impact factor: 1.271

8.  The NLRP3 p.A441V Mutation in NLRP3-AID Pathogenesis: Functional Consequences, Phenotype-Genotype Correlations and Evidence for a Recurrent Mutational Event.

Authors:  Fawaz Awad; Eman Assrawi; Claire Jumeau; Sylvie Odent; Veronique Despert; Gérard Cam; Aleth Perdriger; Camille Louvrier; Laetitia Cobret; Bruno Copin; Sandra Chantot-Bastaraud; Philippe Duquesnoy; William Piterboth; Claire Le Jeunne; Genevieve Quenum-Miraillet; Jean Pierre Siffroi; Sophie Georgin-Lavialle; Gilles Grateau; Marie Legendre; Irina Giurgea; Sonia-Athina Karabina; Serge Amselem
Journal:  ACR Open Rheumatol       Date:  2019-06-06
  8 in total

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