Detalhe da pesquisa
1.
Magnesium sensing via LFA-1 regulates CD8+ T cell effector function.
Cell
; 185(4): 585-602.e29, 2022 02 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35051368
2.
Orthogonal cytokine engineering enables novel synthetic effector states escaping canonical exhaustion in tumor-rejecting CD8+ T cells.
Nat Immunol
; 24(5): 869-883, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37081150
3.
Activation of the transcription factor NFAT5 in the tumor microenvironment enforces CD8+ T cell exhaustion.
Nat Immunol
; 24(10): 1645-1653, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37709986
4.
Coengineering specificity, safety, and function into T cells for cancer immunotherapy.
Immunol Rev
; 320(1): 166-198, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37548063
5.
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.
Am J Hum Genet
; 108(1): 115-133, 2021 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33308444
6.
Growth reference charts for children with hypochondroplasia.
Am J Med Genet A
; 194(2): 243-252, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37814549
7.
The prevalence and phenotypic range associated with biallelic PKDCC variants.
Clin Genet
; 104(1): 121-126, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36896672
8.
Unravelling the pathogenesis of foramen magnum stenosis in patients with severe achondroplasia: a CT-based comparison with age-matched controls and FGFR3 craniosynostosis syndromes.
Childs Nerv Syst
; 39(12): 3491-3499, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37322357
9.
Centrally mediated obstructive apnoea and restenosis of the foramen magnum in an infant with achondroplasia.
Br J Neurosurg
; 37(3): 409-412, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32924616
10.
C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia.
N Engl J Med
; 381(1): 25-35, 2019 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31269546
11.
Automated reanalysis application to assist in detecting novel gene-disease associations after genome sequencing.
Genet Med
; 24(4): 811-820, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34949530
12.
Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study.
Genet Med
; 24(12): 2444-2452, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36107167
13.
Structure-based optimization of type III indoleamine 2,3-dioxygenase 1 (IDO1) inhibitors.
J Enzyme Inhib Med Chem
; 37(1): 1773-1811, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-35758198
14.
Probing the Conformational Dynamics of Affinity-Enhanced T Cell Receptor Variants upon Binding the Peptide-Bound Major Histocompatibility Complex by Hydrogen/Deuterium Exchange Mass Spectrometry.
Biochemistry
; 60(11): 859-872, 2021 03 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33689297
15.
Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial.
Lancet
; 396(10252): 684-692, 2020 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32891212
16.
Clinical trials in skeletal dysplasia: a paradigm for treating rare diseases.
Br Med Bull
; 139(1): 16-35, 2021 09 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34453435
17.
Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study.
Genet Med
; 23(12): 2443-2447, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34341520
18.
Earlier detection of hypochondroplasia: A large single-center UK case series and systematic review.
Am J Med Genet A
; 185(1): 73-82, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33051983
19.
Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders.
Am J Med Genet A
; 185(2): 517-527, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33398909
20.
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Genet Med
; 22(2): 389-397, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31388190