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Akiko Kitamura et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2014)
CARD14 c.526G>C (p.Asp176His) Is a Significant Risk Factor for Generalized Pustular Psoriasis with Psoriasis Vulgaris in the Japanese Cohort
Kazumitsu Sugiura et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2014)
Innate immune sensing of bacterial modifications of Rho GTPases by the Pyrin inflammasome
Hao Xu et al.
NATURE (2014)
Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation
Neil Romberg et al.
NATURE GENETICS (2014)
An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome
Scott W. Canna et al.
NATURE GENETICS (2014)
Early- Onset Stroke and Vasculopathy Associated with Mutations in ADA2
Qing Zhou et al.
NEW ENGLAND JOURNAL OF MEDICINE (2014)
Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa Vasculopathy
Paulina Navon Elkan et al.
NEW ENGLAND JOURNAL OF MEDICINE (2014)
Activated STING in a Vascular and Pulmonary Syndrome
Y. Liu et al.
NEW ENGLAND JOURNAL OF MEDICINE (2014)
CARD14 Expression in Dermal Endothelial Cells in Psoriasis
Jamie L. Harden et al.
PLOS ONE (2014)
NOD proteins: regulators of inflammation in health and disease
Dana J. Philpott et al.
NATURE REVIEWS IMMUNOLOGY (2014)
A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD)
Daniel H. Wiseman et al.
BLOOD (2013)
Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis
Vincent Jose Soler et al.
JOURNAL OF MEDICAL GENETICS (2013)
STING and the innate immune response to nucleic acids in the cytosol
Dara L. Burdette et al.
NATURE IMMUNOLOGY (2013)
NLRP1 haplotypes associated with vitiligo and autoimmunity increase interleukin-1β processing via the NLRP1 inflammasome
Cecilia B. Levandowski et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
Crystal Structure of NLRC4 Reveals Its Autoinhibition Mechanism
Zehan Hu et al.
SCIENCE (2013)
PSORS2 Is Due to Mutations in CARD14
Catherine T. Jordan et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Rare and Common Variants in CARD14, Encoding an Epidermal Regulator of NF-kappaB, in Psoriasis
Catherine T. Jordan et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
A Hypermorphic Missense Mutation in PLCG2, Encoding Phospholipase Cγ2, Causes a Dominantly Inherited Autoinflammatory Disease with Immunodeficiency
Qing Zhou et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Familial Pityriasis Rubra Pilaris Is Caused by Mutations in CARD14
Dana Fuchs-Telem et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
An International registry on Autoinflammatory diseases: the Eurofever experience
Natasa Toplak et al.
ANNALS OF THE RHEUMATIC DISEASES (2012)
Genotype, phenotype, and clinical course in five patients with PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne)
Andrew P. Demidowich et al.
ARTHRITIS AND RHEUMATISM (2012)
Mutations in proteasome subunit ß type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity
Yin Liu et al.
ARTHRITIS AND RHEUMATISM (2012)
NLRP1 Inflammasome Activation Induces Pyroptosis of Hematopoietic Progenitor Cells
Seth L. Masters et al.
IMMUNITY (2012)
Autolytic Proteolysis within the Function to Find Domain (FIIND) Is Required for NLRP1 Inflammasome Activity
Joshua N. Finger et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2012)
Phosphorylation of NLRC4 is critical for inflammasome activation
Yan Qu et al.
NATURE (2012)
Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis
Sheng-Quan Zhang et al.
NATURE GENETICS (2012)
Cold Urticaria, Immunodeficiency, and Autoimmunity Related to PLCG2 Deletions
Michael J. Ombrello et al.
NEW ENGLAND JOURNAL OF MEDICINE (2012)
STING Specifies IRF3 Phosphorylation by TBK1 in the Cytosolic DNA Signaling Pathway
Yasuo Tanaka et al.
SCIENCE SIGNALING (2012)
High Incidence of NLRP3 Somatic Mosaicism in Patients With Chronic Infantile Neurologic, Cutaneous, Articular Syndrome Results of an International Multicenter Collaborative Study
Naoko Tanaka et al.
ARTHRITIS AND RHEUMATISM (2011)
Protein palmitoylation and subcellular trafficking
Clara Aicart-Ramos et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES (2011)
A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans
Akiko Kitamura et al.
JOURNAL OF CLINICAL INVESTIGATION (2011)
Differential Expression of NLRP3 among Hematopoietic Cells
Greta Guarda et al.
JOURNAL OF IMMUNOLOGY (2011)
Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome
Kazuhiko Arima et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
WAVE regulatory complex activation by cooperating GTPases Arf and Rac1
Vassilis Koronakis et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
tRNAs Marked with CCACCA Are Targeted for Degradation
Jeremy E. Wilusz et al.
SCIENCE (2011)
A Single-Nucleotide Deletion in the POMP 5′ UTR Causes a Transcriptional Switch and Altered Epidermal Proteasome Distribution in KLICK Genodermatosis
Johanna Dahlqvist et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
PSMB8 Encoding the β5i Proteasome Subunit Is Mutated in Joint Contractures, Muscle Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy Syndrome
Anil K. Agarwal et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Functional Consequences of a Germline Mutation in the Leucine-Rich Repeat Domain of NLRP3 Identified in an Atypical Autoinflammatory Disorder
Isabelle Jeru et al.
ARTHRITIS AND RHEUMATISM (2010)
Nod proteins link bacterial sensing and autophagy
Leonardo H. Travassos et al.
AUTOPHAGY (2010)
Hem-1: Putting the WAVE into actin polymerization during an immune response
Heon Park et al.
FEBS LETTERS (2010)
WASP: a key immunological multitasker
Adrian J. Thrasher et al.
NATURE REVIEWS IMMUNOLOGY (2010)
The Inflammasomes: Guardians of the Body
Fablo Martinon et al.
ANNUAL REVIEW OF IMMUNOLOGY (2009)
Role of the NOD2 Genotype in the Clinical Phenotype of Blau Syndrome and Early-Onset Sarcoidosis
Ikuo Okafuji et al.
ARTHRITIS AND RHEUMATISM (2009)
A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes
N. F. Magitta et al.
GENES AND IMMUNITY (2009)
The Crystal Structure of Human Pyrin B30.2 Domain: Implications for Mutations Associated with Familial Mediterranean Fever
Christopher Weinert et al.
JOURNAL OF MOLECULAR BIOLOGY (2009)
Use of Canakinumab in the Cryopyrin-Associated Periodic Syndrome
Helen J. Lachmann et al.
NEW ENGLAND JOURNAL OF MEDICINE (2009)
Differentiating PFAPA Syndrome From Monogenic Periodic Fevers
Marco Gattorno et al.
PEDIATRICS (2009)
The clinical spectrum of 94 patients carrying a single mutated MEFV allele
Isabelle Kone-Paut et al.
RHEUMATOLOGY (2009)
The inflammasome recognizes cytosolic microbial and host DNA and triggers an innate immune response
Daniel A. Muruve et al.
NATURE (2008)
Pyrin activates the ASC pyroptosome in response to engagement by autoinflammatory PSTPIP1 mutants
Je-Wook Yu et al.
MOLECULAR CELL (2007)
The pyroptosome: a supramolecular assembly of ASC dimers mediating inflammatory cell death via caspase-1 activation
T. Fernandes-Alnemri et al.
CELL DEATH AND DIFFERENTIATION (2007)
Allogeneic bone marrow transplantation in mevalonic aciduria
Benedicte Neven et al.
NEW ENGLAND JOURNAL OF MEDICINE (2007)
Inflammasome components NALP 1 and 3 show distinct but separate expression profiles in human tissues suggesting a site-specific role in the inflammatory response
J. Alain Kummer et al.
JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY (2007)
NALP1 in vitiligo-associated multiple autoimmune disease
Ying Jin et al.
NEW ENGLAND JOURNAL OF MEDICINE (2007)
The WASP-WAVE protein network: connecting the membrane to the cytoskeleton
Tadaomi Takenawa et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2007)
Neonatal-onset multisystem inflammatory disease responsive to interleukin-1β inhibition
Raphaela Goldbach-Mansky et al.
NEW ENGLAND JOURNAL OF MEDICINE (2006)
Mutational spectrum and genotype-phenotype correlationsin mevalonate kinase deficiency
Saskia H. L. Mandey et al.
HUMAN MUTATION (2006)
Clinical and subclinical inflammation in patients with familial Mediterranean fever and in heterozygous carriers of MEFV mutations
H. J. Lachmann et al.
RHEUMATOLOGY (2006)
Human plasma adenosine deaminase 2 is secreted by activated monocytes
S Iwaki-Egawa et al.
BIOLOGICAL CHEMISTRY (2006)
Anakinra therapy for CINCA syndrome with a novel mutation in exon 4 of the CIAS1 gene
T Matsubayashi et al.
ACTA PAEDIATRICA (2006)
PYPAF1 nonsense mutation in a patient with an unusual autoinflammatory syndrome -: Role of PYPAF1 in inflammation
I Jéru et al.
ARTHRITIS AND RHEUMATISM (2006)
Somatic mosaicism of CIAS1 in a patient with chronic infantile neurologic, cutaneous, articular syndrome
M Saito et al.
ARTHRITIS AND RHEUMATISM (2005)
Human ADA2 belongs to a new family of growth factors with adenosine deaminase activity
AV Zavialov et al.
BIOCHEMICAL JOURNAL (2005)
Interaction of pyrin with 14.3.3 in an isoform-specific and phosphorylation-dependent manner regulates its translocation to the nucleus
I Jéru et al.
ARTHRITIS AND RHEUMATISM (2005)
Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-κB activation:: common genetic etiology with Blau syndrome
N Kanazawa et al.
BLOOD (2005)
Fyn and PTP-PEST-mediated regulation of Wiskott-Aldrich syndrome protein (WASp) tyrosine phosphorylation is required for coupling T cell antigen receptor engagement to WASp effector function and T cell activation
K Bodour et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2004)
Variant chronic infantile neurologic, cutaneous, articular syndrome due to a mutation within the leucine-rich repeat domain of CIAS1
J Frenkel et al.
ARTHRITIS AND RHEUMATISM (2004)
A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: An unusual familial Mediterranean fever phenotype or another MEFV-associated periodic inflammatory disorder?
A Aldea et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway
NG Shoham et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)
Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in Hyper-IgD and periodic fever syndrome
SM Houten et al.
HUMAN MOLECULAR GENETICS (2002)
Induction of Nod2 in myelomonocytic and intestinal epithelial cells via nuclear factor-κB activation
O Gutierrez et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
Lack of isoprenoid products raises ex vivo interleukin-1β secretion in hyperimmunoglobulinemia D and periodic fever syndrome
J Frenkel et al.
ARTHRITIS AND RHEUMATISM (2002)
Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder
CA Wise et al.
HUMAN MOLECULAR GENETICS (2002)
PSTPIP is a substrate of PTP-PEST and serves as a scaffold guiding PTP-PEST toward a specific dephosphorylation of WASP
JF Côté et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
Identification and characterization of mammalian mitochondrial tRNA nucleotidyltransferases
T Nagaike et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
Identification of Ipaf, a human caspase-1-activating protein related to Apaf-1
JL Poyet et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
The genetic basis of autosomal dominant familial Mediterranean fever
DR Booth et al.
QJM-AN INTERNATIONAL JOURNAL OF MEDICINE (2000)
Hematopoietic-specific expression of MEFV, the gene mutated in familial Mediterranean fever, and subcellular localization of its corresponding protein, pyrin
N Tidow et al.
BLOOD (2000)
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