Detalhe da pesquisa
1.
The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS.
Ann Rheum Dis
; 81(5): 601-613, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35086813
2.
Recruitment of A20 by the C-terminal domain of NEMO suppresses NF-κB activation and autoinflammatory disease.
Proc Natl Acad Sci U S A
; 113(6): 1612-7, 2016 Feb 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26802121
3.
Cutting edge: association with I kappa B kinase beta regulates the subcellular localization of Homer3.
J Immunol
; 185(5): 2665-9, 2010 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20693425
4.
Genetically programmed alternative splicing of NEMO mediates an autoinflammatory disease phenotype.
J Clin Invest
; 132(6)2022 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35289316
5.
The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: CANDLE/PRAAS, SAVI, and AGS.
Arthritis Rheumatol
; 74(5): 735-751, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35315249
6.
Congenital alterations of NEMO glutamic acid 223 result in hypohidrotic ectodermal dysplasia and immunodeficiency with normal serum IgG levels.
Ann Allergy Asthma Immunol
; 107(1): 50-6, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21704885
7.
A novel missense mutation in the nuclear factor-κB essential modulator (NEMO) gene resulting in impaired activation of the NF-κB pathway and a unique clinical phenotype presenting as MRSA subdural empyema.
J Clin Immunol
; 30(6): 881-5, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20652730
8.
Somatic SMAD3-activating mutations cause melorheostosis by up-regulating the TGF-ß/SMAD pathway.
J Exp Med
; 217(5)2020 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32232430
9.
Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases.
J Clin Invest
; 130(4): 1669-1682, 2020 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31874111
10.
Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity.
J Allergy Clin Immunol
; 122(6): 1169-1177.e16, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18851874
11.
IKBKG (nuclear factor-kappa B essential modulator) mutation can be associated with opportunistic infection without impairing Toll-like receptor function.
J Allergy Clin Immunol
; 121(4): 976-82, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18179816
12.
Somatic activating mutations in MAP2K1 cause melorheostosis.
Nat Commun
; 9(1): 1390, 2018 04 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29643386
13.
Distribution and Functional Consequences of Somatic MAP2K1 Variants in Affected Skin Associated with Bone Lesions in Melorheostosis.
J Invest Dermatol
; 141(3): 688-692.e11, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32791068
14.
Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease.
Nat Genet
; 48(1): 67-73, 2016 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26642243
15.
A method for the quantitative analysis of stimulation-induced nuclear translocation of the p65 subunit of NF-κB from patient-derived dermal fibroblasts.
Methods Mol Biol
; 1280: 413-26, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25736764
16.
Corrigendum: Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome.
Front Pediatr
; 3: 28, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25932458
17.
Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome.
Front Pediatr
; 3: 2, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25688341
18.
Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome.
J Exp Med
; 210(3): 433-43, 2013 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23440042
19.
Hypohidrotic ectodermal dysplasia and immunodeficiency with coincident NEMO and EDA mutations.
Front Immunol
; 2: 61, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-22566850