Genetics of monogenic autoinflammatory diseases: past successes, future challenges. - Wikidata - awgldk - TriplyDB

Genetics of monogenic autoinflammatory diseases: past successes, future challenges.

Genetics of monogenic autoinflammatory diseases: past successes, future challenges.

http://www.wikidata.org/entity/Q37897478

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AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking Familial Mediterranean fever: current perspectives Structures of the HIN Domain:DNA Complexes Reveal Ligand Binding and Activation Mechanisms of the AIM2 Inflammasome and IFI16 Receptor Mechanism-Based Strategies for the Management of Autoimmunity and Immune Dysregulation in Primary Immunodeficiencies The challenge of autoinflammatory syndromes: with an emphasis on hyper-IgD syndrome CARD8 is a negative regulator for NLRP3 inflammasome, but mutant NLRP3 in cryopyrin-associated periodic syndromes escapes the restriction.Microarray-based gene expression profiling in patients with cryopyrin-associated periodic syndromes defines a disease-related signature and IL-1-responsive transcripts An inherited mutation in NLRC4 causes autoinflammation in human and mice.Periodic Fever and Neutrophilic Dermatosis: Is It Sweet's Syndrome?Periodic Fever: A Review on Clinical, Management and Guideline for Iranian Patients - Part II.Integrative genomics identifies 7p11.2 as a novel locus for fever and clinical stress response in humans Periodic Fever: a review on clinical, management and guideline for Iranian patients - part I Association of pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH) shares genetic and cytokine profiles with other autoinflammatory diseases.A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency.Inflammation in mice ectopically expressing human Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne (PAPA) Syndrome-associated PSTPIP1 A230T mutant proteins.Genomic architecture of inflammatory bowel disease in five families with multiple affected individuals A novel mutation in IL36RN underpins childhood pustular dermatosis "Model t" cells: a time-tested vehicle for gene therapy AP1S3 Mutations Cause Skin Autoinflammation by Disrupting Keratinocyte Autophagy and Up-Regulating IL-36 Production Familial Mediterranean fever presenting as fever of unknown origin in Korea.Systems approaches to human autoimmune diseases.Caspase-8: not so silently deadly.Crohn's as an immune deficiency: from apparent paradox to evolving paradigm.Autoinflammatory skin disorders in inflammatory bowel diseases, pyoderma gangrenosum and Sweet's syndrome: a comprehensive review and disease classification criteria.Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever.The autoinflammatory diseases: a fashion with blurred boundaries!A Comprehensive Overview of the Hereditary Periodic Fever Syndromes.Small molecules to the rescue: Inhibition of cytokine signaling in immune-mediated diseases.Genomics and epigenomics in rheumatic diseases: what do they provide in terms of diagnosis and disease management?Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers.Challenges in diagnosing Muckle-Wells syndrome: identifying two distinct phenotypes.[Genetic fever syndromes. Hereditary recurrent (periodic) fever syndromes].Identification of a new exon 2-skipped TNFR1 transcript: regulation by three functional polymorphisms of the TNFR-associated periodic syndrome (TRAPS) gene.Mevalonate kinase genotype in children with recurrent fevers and high serum IgD level.Familial Mediterranean fever in Germany: epidemiological, clinical, and genetic characteristics of a pediatric population.An autoinflammatory neurological disease due to interleukin 6 hypersecretion.Dysfunctional immunoproteasomes in autoinflammatory diseases.Eating Disorders, Autoimmune, and Autoinflammatory Disease.Bone involvement in monogenic autoinflammatory syndromes.Novel NLRC4 Mutation Causes a Syndrome of Perinatal Autoinflammation With Hemophagocytic Lymphohistiocytosis, Hepatosplenomegaly, Fetal Thrombotic Vasculopathy, and Congenital Anemia and Ascites.

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Genetics of monogenic autoinflammatory diseases: past successes, future challenges.

http://www.wikidata.org/entity/Q37897478

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article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 05 July 2011

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Genetics of monogenic autoinflammatory diseases: past successes, future challenges.

@en

Genetics of monogenic autoinflammatory diseases: past successes, future challenges.

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type

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Genetics of monogenic autoinflammatory diseases: past successes, future challenges.

@en

Genetics of monogenic autoinflammatory diseases: past successes, future challenges.

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prefLabel

Genetics of monogenic autoinflammatory diseases: past successes, future challenges.

@en

Genetics of monogenic autoinflammatory diseases: past successes, future challenges.

@nl

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NRRHEUM.2011.94

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Nature Reviews Rheumatology

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Genetics of monogenic autoinflammatory diseases: past successes, future challenges.

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Daniel L Kastner

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Ivona Aksentijevich

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P2860

Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome

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

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

Mutations in NALP12 cause hereditary periodic fever syndromes

Cryopyrin-induced interleukin 1beta secretion in monocytic cells: enhanced activity of disease-associated mutants and requirement for ASC

TRIM family proteins: retroviral restriction and antiviral defence

De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases

An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist

Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*)

Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway

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nrrheum.2011.94

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10.1038/NRRHEUM.2011.94

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