Genetics of monogenic autoinflammatory diseases: past successes, future challenges.
about
AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 traffickingFamilial Mediterranean fever: current perspectivesStructures of the HIN Domain:DNA Complexes Reveal Ligand Binding and Activation Mechanisms of the AIM2 Inflammasome and IFI16 ReceptorMechanism-Based Strategies for the Management of Autoimmunity and Immune Dysregulation in Primary ImmunodeficienciesThe challenge of autoinflammatory syndromes: with an emphasis on hyper-IgD syndromeCARD8 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 transcriptsAn 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 humansPeriodic Fever: a review on clinical, management and guideline for Iranian patients - part IAssociation 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 individualsA novel mutation in IL36RN underpins childhood pustular dermatosis"Model t" cells: a time-tested vehicle for gene therapyAP1S3 Mutations Cause Skin Autoinflammation by Disrupting Keratinocyte Autophagy and Up-Regulating IL-36 ProductionFamilial 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.
P2860
Q24296788-C9F2193B-6530-4D8F-B991-086F396890AAQ26751292-BF9B17A0-E318-4334-A599-5B663CC92322Q27678368-2EAFBC6D-173E-4CE8-81A0-9AFECFCE8D6BQ28066193-9B1E21E4-8910-40D6-A3FC-8E781643E81AQ28070297-CF43662E-40AF-4B54-9A6E-4CBF7F2AB8B2Q33765679-5D21B48E-4096-48DA-9F05-387EB4DED8A9Q34240460-5354F263-138C-462B-A4BE-6CEFE4D410A4Q34447217-C4E33439-CBBB-4610-BA07-080C132F9F93Q34754365-0E673577-264B-47F8-B5D6-EC0F26608E56Q34772778-F2786871-D81E-4D36-BEB5-A63FD7102F6BQ35152830-60FE94ED-9893-4EB3-A403-E45C4570E04CQ35177278-CC468AFF-E9CC-4264-AF4E-7A01CCFE72ADQ36152675-8EDA5D2A-082D-423B-922B-ECA6833E21B7Q36358469-232833BF-61F8-4EF1-B167-24759BA53BA0Q36620693-8D2E2CBC-D5FF-480B-8740-AE0742A0DD34Q36671297-5DB0F54D-3236-4427-A5C2-DEDE7E2EBB13Q37152241-C263394B-1246-41FA-8ABF-5C8447814397Q37201423-E165A3CC-C629-4B33-B099-BFE7F0CD2F6FQ37351626-E6D655E7-1E4E-4A57-B147-DEA2FE6DE3FEQ37525673-FC57C082-60E5-45F3-B21B-0DB5861F1295Q37584747-C94AC85B-B014-4690-9AD4-4282D8A34DCBQ37625431-11B397AE-A735-4B4F-9E10-5F672334FB42Q38068957-C4B897AC-9140-4EB3-82D5-B7243E817D96Q38075485-00C54C8A-35B1-4F70-B0B8-AF46D14FA3F0Q38335115-35E5DDD3-F653-44E5-82FB-D6FC6950A0BBQ38496586-FBA6E36A-C88B-4065-A94B-E9477761738FQ38805718-8BAE1F9F-AA3B-4970-BD96-24B23C7CE9C0Q39413866-C907E8E6-C865-4783-9346-818187EB6D6CQ39446770-43C4BEEC-BC45-416F-8402-09B1CB2AD042Q40171678-CA172A08-26D2-46DB-ABD2-745EEAB69E55Q40231494-A74FFCC8-10D6-45EE-8F63-50ACE1E2E2DAQ40252367-138C3049-6C47-4412-B469-76C1284009CEQ40254254-2BAD2F2F-D883-43BB-91BF-641A88748646Q40264523-85A64DE7-109F-4713-AD17-A4119B94C8F0Q40277153-DDE8B04E-946A-44F7-8FA1-DCD5A93051CBQ41771642-B0D91DF6-A296-4CAE-B3D4-C494F3B20B75Q47121731-B9340A75-26D0-4A24-98D1-C19EF352592DQ47576339-D45A04A4-F56D-4C6C-B217-B044A9E317E1Q48088115-F3F96CAD-2206-453E-8F76-1BBA7BF9DDCCQ51061979-7623353E-2DFD-485C-8153-236FD4C0DAC7
P2860
Genetics of monogenic autoinflammatory diseases: past successes, future challenges.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 05 July 2011
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Genetics of monogenic autoinflammatory diseases: past successes, future challenges.
@en
Genetics of monogenic autoinflammatory diseases: past successes, future challenges.
@nl
type
label
Genetics of monogenic autoinflammatory diseases: past successes, future challenges.
@en
Genetics of monogenic autoinflammatory diseases: past successes, future challenges.
@nl
prefLabel
Genetics of monogenic autoinflammatory diseases: past successes, future challenges.
@en
Genetics of monogenic autoinflammatory diseases: past successes, future challenges.
@nl
P2860
P356
P1476
Genetics of monogenic autoinflammatory diseases: past successes, future challenges.
@en
P2093
Daniel L Kastner
Ivona Aksentijevich
P2860
P2888
P304
P356
10.1038/NRRHEUM.2011.94
P407
P577
2011-07-05T00:00:00Z