Monogenic autoinflammatory diseases. - Wikidata - wikimedia - TriplyDB

Monogenic autoinflammatory diseases.

Monogenic autoinflammatory diseases.

http://www.wikidata.org/entity/Q38211947

about

Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease Anti-Inflammatory Effects of Modified Adenoviral Vectors for Gene Therapy: A View through Animal Models Tested.Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases.Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.Autoinflammatory and autoimmune contributions to complex regional pain syndrome

P2860

Q36649404-61216B84-9799-4641-AF71-0DC0FC86104C Q38849248-DF93EF58-DF3C-43D4-807B-63DE18C79557 Q40138574-14E8E334-0E0D-4408-8452-B8E3A85B6806 Q41153268-92B9C1DE-1FE4-4807-A2BC-20D1CF8E0920 Q58733893-D7616900-3CFB-43E0-8AAD-3B17894F690C

P2860

Monogenic autoinflammatory diseases.

http://www.wikidata.org/entity/Q38211947

description

article científic

@ca

article scientifique

@fr

articol științific

@ro

articolo scientifico

@it

artigo científico

@gl

artigo científico

@pt

artigo científico

@pt-br

artikel ilmiah

@id

artikull shkencor

@sq

artículo científico

@es

name

Monogenic autoinflammatory diseases.

@en

type

label

Monogenic autoinflammatory diseases.

@en

prefLabel

Monogenic autoinflammatory diseases.

@en

P1433

Q38211947-23B440B5-249B-4F3E-AE00-373FED248A7B

P1476

Q38211947-3B6D21B4-2485-49D1-B6B3-9AFDB4DA39E4

P2093

Q38211947-85CD880F-4F44-4AF7-8368-15EF622BE168

P2860

Q38211947-02ABE2DE-49E9-4DF4-9299-F00284A65DF8

Q38211947-02E5A4B9-C919-4C47-B792-AB75B24F56F4

Q38211947-08157DFD-A083-4A22-88D1-68D878DBAA97

Q38211947-0947B7DD-CB5B-4898-8702-6E87BB98F82D

Q38211947-0B5514E6-B0BE-40F0-AC00-1CFD59644883

Q38211947-0CDEA3F2-C491-40CE-937F-3C37B0815FDA

Q38211947-0CF4F27F-E438-429A-AE52-36701F0054DF

Q38211947-0DA1A73F-4873-4EEF-ADDD-D401C5BF2547

Q38211947-0EFDE34B-5496-4F24-B5AE-DF7E5B791A98

Q38211947-133F607B-5B53-4651-AC22-089CF0E5AB4B

P304

Q38211947-C7C693DA-C53B-4DE3-9076-373A1C802D81

P31

Q38211947-4ABF39E8-0AC0-41F6-A959-9A0C8700C48C

P356

Q38211947-2BCD492E-BA37-48D6-A492-D5EAE4C21209

P433

Q38211947-B577F689-C376-4E0F-84DD-DF618AC649E6

P478

Q38211947-47A507A1-8BA0-4B4C-A28F-BCA07783AE55

P50

Q38211947-836A3CC1-84F3-4180-B1B0-B10A18ABCFE8

P577

Q38211947-91972482-1798-40AA-9779-72568A5E55EA

P698

Q38211947-B28650CB-3A7E-4D23-B15B-0C5761020668

P356

P1433

P1476

Monogenic autoinflammatory diseases.

@en

P2093

Paul A Brogan

http://www.w3.org/2001/XMLSchema#string

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

Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

The inflammasome: a molecular platform triggering activation of inflammatory caspases and processing of proIL-beta

Mutations in NALP12 cause hereditary periodic fever syndromes

NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder

Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes

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

Phenotype, genotype, and sustained response to anakinra in 22 patients with autoinflammatory disease associated with CIAS-1/NALP3 mutations

P304

1927-1939

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1093/RHEUMATOLOGY/KEU170

http://www.w3.org/2001/XMLSchema#string

P433

11

http://www.w3.org/2001/XMLSchema#string

P478

53

http://www.w3.org/2001/XMLSchema#string

P50

P577

2014-05-15T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

24831056

http://www.w3.org/2001/XMLSchema#string