Detalhe da pesquisa
1.
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.
Am J Hum Genet
; 101(2): 283-290, 2017 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28757203
2.
Cardiac function and exercise adaptation in 8 children with LPIN1 mutations.
Mol Genet Metab
; 123(3): 375-381, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29325813
3.
Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti.
J Allergy Clin Immunol
; 140(6): 1671-1682.e2, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28249776
4.
Normal human adipose tissue functions and differentiation in patients with biallelic LPIN1 inactivating mutations.
J Lipid Res
; 58(12): 2348-2364, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28986436
5.
A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia.
PLoS Genet
; 10(11): e1004711, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25392908
6.
A unique CD8(+) T lymphocyte signature in pediatric type 1 diabetes.
J Autoimmun
; 73: 54-63, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27318739
7.
Acute rhabdomyolysis and inflammation.
J Inherit Metab Dis
; 38(4): 621-8, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25778939
8.
Epithelial barrier dysfunction in desmoglein-1 deficiency.
J Allergy Clin Immunol
; 142(2): 702-706.e7, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29705242
9.
Compromised mitochondrial quality control triggers lipin1-related rhabdomyolysis.
Cell Rep Med
; 2(8): 100370, 2021 08 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34467247
10.
Clinical-grade preparation of human natural regulatory T-cells encoding the thymidine kinase suicide gene as a safety gene.
J Gene Med
; 10(8): 834-46, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18615770
11.
Identification of EPX Variants in Human Eosinophilic Granulomatosis With Polyangiitis (Churg-Strauss).
J Allergy Clin Immunol Pract
; 11(6): 1960-1963.e3, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36868475
12.
Kaposi's sarcoma-associated herpesvirus viremia is associated with the progression of classic and endemic Kaposi's sarcoma.
J Invest Dermatol
; 126(3): 621-7, 2006 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-16410791
13.
IL36RN Mutations Affect Protein Expression and Function: A Basis for Genotype-Phenotype Correlation in Pustular Diseases.
J Invest Dermatol
; 136(9): 1811-1819, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27220475
14.
Generation of Human Alloantigen-Specific Regulatory T Cells Under Good Manufacturing Practice-Compliant Conditions for Cell Therapy.
Cell Transplant
; 24(12): 2527-40, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25198125
15.
Adenovirally transduced dendritic cells induce bispecific cytotoxic T lymphocyte responses against adenovirus and cytomegalovirus pp65 or against adenovirus and Epstein-Barr virus EBNA3C protein: a novel approach for immunotherapy.
Hum Gene Ther
; 13(7): 855-66, 2002 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-11975851
16.
Clinical grade preparation of human natural regulatory T-cells encoding the thymidine kinase suicide gene as a safety gene: authors' reponse.
J Gene Med
; 11(8): 737-8, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19514009
17.
Gene transfer for activation of CMV specific T cells.
Hum Immunol
; 65(5): 565-70, 2004 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-15172458
18.
Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.
Orphanet J Rare Dis
; 8: 192, 2013 Dec 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-24341803
19.
ZnT8 is a major CD8+ T cell-recognized autoantigen in pediatric type 1 diabetes.
Diabetes
; 61(7): 1779-84, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22586580
20.
Donor regulatory T cells identified by FoxP3 expression but also by the membranous CD4+CD127low/neg phenotype influence graft-versus-tumor effect after donor lymphocyte infusion.
J Immunother
; 31(9): 806-11, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18833007