Detalhe da pesquisa
1.
IAPs and RIPK1 mediate LPS-induced cytokine production in healthy subjects and Crohn's disease.
Clin Exp Immunol
; 215(3): 291-301, 2024 02 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37583360
2.
An open label trial of nemiralisib, an inhaled PI3 kinase delta inhibitor for the treatment of Activated PI3 kinase Delta Syndrome.
Pulm Pharmacol Ther
; 79: 102201, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36841351
3.
Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy.
J Allergy Clin Immunol
; 144(5): 1364-1376, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31201888
4.
Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease.
J Allergy Clin Immunol
; 143(4): 1482-1495, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30170123
5.
Novel IL2RG Mutation Causes Leaky TLOWB+NK+ SCID With Nodular Regenerative Hyperplasia and Normal IL-15 STAT5 Phosphorylation.
J Pediatr Hematol Oncol
; 41(4): 328-333, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29939941
6.
Genetic correlations among psychiatric and immune-related phenotypes based on genome-wide association data.
Am J Med Genet B Neuropsychiatr Genet
; 177(7): 641-657, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30325587
7.
Immunodeficiency and severe susceptibility to bacterial infection associated with a loss-of-function homozygous mutation of MKL1.
Blood
; 126(13): 1527-35, 2015 Sep 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-26224645
8.
Topoisomerase 2ß mutation impairs early B-cell development.
Blood
; 135(17): 1497-1501, 2020 04 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-32128574
9.
Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study.
J Allergy Clin Immunol
; 138(1): 210-218.e9, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27221134
10.
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.
Nat Genet
; 39(7): 857-64, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17554260
11.
Microevolution of extensively drug-resistant tuberculosis in Russia.
Genome Res
; 22(4): 735-45, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22294518
12.
A robust model for read count data in exome sequencing experiments and implications for copy number variant calling.
Bioinformatics
; 28(21): 2747-54, 2012 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22942019
13.
Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A.
Nature
; 450(7171): 887-92, 2007 Dec 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-18004301
14.
A genome wide association study of pulmonary tuberculosis susceptibility in Indonesians.
BMC Med Genet
; 13: 5, 2012 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22239941
15.
Common variable immunodeficiency and natural killer cell lymphopenia caused by Ets-binding site mutation in the IL-2 receptor γ (IL2RG) gene promoter.
J Allergy Clin Immunol
; 137(3): 940-2.e4, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26525228
16.
Topoisomerase 2ß and DNA topology during B cell development.
Front Immunol
; 13: 982870, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36045673
17.
MCP-1 promoter variant -362C associated with protection from pulmonary tuberculosis in Ghana, West Africa.
Hum Mol Genet
; 18(2): 381-8, 2009 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18940815
18.
Down-regulation of NKG2D and NKp80 ligands by Kaposi's sarcoma-associated herpesvirus K5 protects against NK cell cytotoxicity.
Proc Natl Acad Sci U S A
; 105(5): 1656-61, 2008 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-18230726
19.
Genetic association and expression studies indicate a role of toll-like receptor 8 in pulmonary tuberculosis.
PLoS Genet
; 4(10): e1000218, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18927625
20.
Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation.
J Crohns Colitis
; 15(11): 1908-1919, 2021 Nov 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33891011