Detalhe da pesquisa
1.
Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing.
J Allergy Clin Immunol;
153(1): 297-308.e12, 2024 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37979702
2.
Revisiting autoimmune lymphoproliferative syndrome caused by Fas ligand mutations.
J Allergy Clin Immunol;
151(5): 1391-1401.e7, 2023 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36621650
3.
Late Onset of Primary Hemophagocytic Lymphohistiocytosis (HLH) with a Novel Constellation of Compound Heterozygosity Involving Two Missense Variants in the PRF1 Gene.
Int J Mol Sci;
25(5)2024 Feb 27.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38474010
4.
STAT3-confusion-of-function: Beyond the loss and gain dualism.
J Allergy Clin Immunol;
150(5): 1237-1241.e3, 2022 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35750105
5.
Rubella vaccine-induced granulomas are a novel phenotype with incomplete penetrance of genetic defects in cytotoxicity.
J Allergy Clin Immunol;
149(1): 388-399.e4, 2022 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34033843
6.
TIM-3 deficiency presenting with two clonally unrelated episodes of mesenteric and subcutaneous panniculitis-like T-cell lymphoma and hemophagocytic lymphohistiocytosis.
Pediatr Blood Cancer;
67(6): e28302, 2020 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32285995
7.
Germline biallelic PIK3CG mutations in a multifaceted immunodeficiency with immune dysregulation.
Haematologica;
105(10): e488, 2020 10 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33054089
8.
Patients and mice with deficiency in the SNARE protein SYNTAXIN-11 have a secondary B cell defect.
J Exp Med;
221(7)2024 Jul 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38722309
9.
MAP kinase activating death domain deficiency is a novel cause of impaired lymphocyte cytotoxicity.
Blood Adv;
7(8): 1531-1535, 2023 04 25.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36206192
10.
Variant in the PLCG2 Gene May Cause a Phenotypic Overlap of APLAID/PLAID: Case Series and Literature Review.
J Clin Med;
11(15)2022 Jul 27.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35955991
11.
Stable isotopes (δ13C, δ15N) and biomarkers as indicators of the hydrological regime of fens in a European east-west transect.
Sci Total Environ;
838(Pt 4): 156603, 2022 Sep 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35690201
12.
Heparanase 2 interacts with heparan sulfate with high affinity and inhibits heparanase activity.
J Biol Chem;
285(36): 28010-9, 2010 Sep 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20576607
13.
A distinct CD38+CD45RA+ population of CD4+, CD8+, and double-negative T cells is controlled by FAS.
J Exp Med;
218(2)2021 02 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33170215
14.
Griscelli Syndrome Type 2 Sine Albinism: Unraveling Differential RAB27A Effector Engagement.
Front Immunol;
11: 612977, 2020.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33362801
15.
NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammation.
J Exp Med;
217(12)2020 12 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32766723
16.
Retroviral UNC13D Gene Transfer Restores Cytotoxic Activity of T Cells Derived from Familial Hemophagocytic Lymphohistiocytosis Type 3 Patients In Vitro.
Hum Gene Ther;
30(8): 975-984, 2019 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31032638
17.
Correction: Patients and mice with deficiency in the SNARE protein SYNTAXIN-11 have a secondary B cell defect.
J Exp Med;
221(7)2024 Jul 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38771261
18.
Acetylcholine-induced seizure-like activity and modified cholinergic gene expression in chronically epileptic rats.
Eur J Neurosci;
27(4): 965-75, 2008 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18333967
19.
Between Party, People, and Profession: The Many Faces of the 'Doctor' during the Cultural Revolution.
Med Hist;
62(3): 333-359, 2018 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29886861