Detalhe da pesquisa
1.
Redefining WILD syndrome: a primary lymphatic dysplasia with congenital multisegmental lymphoedema, cutaneous lymphovascular malformation, CD4 lymphopaenia and warts.
J Med Genet
; 60(1): 84-90, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34916230
2.
Calcium and the Ca-ATPase SPCA1 modulate plasma membrane abundance of ZIP8 and ZIP14 to regulate Mn(II) uptake in brain microvascular endothelial cells.
J Biol Chem
; 298(8): 102211, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35787370
3.
Disruption of the Pseudomonas aeruginosa Tat system perturbs PQS-dependent quorum sensing and biofilm maturation through lack of the Rieske cytochrome bc1 sub-unit.
PLoS Pathog
; 17(8): e1009425, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34460871
4.
Cysteine-Selective Modification of Peptides and Proteins via Desulfurative C-C Bond Formation.
Chemistry
; 29(16): e202202503, 2023 Mar 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36534955
5.
Site-Selective Installation of Nϵ -Modified Sidechains into Peptide and Protein Scaffolds via Visible-Light-Mediated Desulfurative C-C Bond Formation.
Angew Chem Int Ed Engl
; 61(2): e202110223, 2022 01 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34713958
6.
Routine Use of Tenecteplase for Thrombolysis in Acute Ischemic Stroke.
Stroke
; 52(3): 1087-1090, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33588597
7.
Diazophosphonates: Effective Surrogates for Diazoalkanes in Pyrazole Synthesis.
Chemistry
; 27(55): 13703-13708, 2021 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34425034
8.
The solute carriers ZIP8 and ZIP14 regulate manganese accumulation in brain microvascular endothelial cells and control brain manganese levels.
J Biol Chem
; 294(50): 19197-19208, 2019 12 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31699897
9.
Site-Selective Modification of Peptides and Proteins via Interception of Free-Radical-Mediated Dechalcogenation.
Angew Chem Int Ed Engl
; 59(52): 23659-23667, 2020 12 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-32893423
10.
Pachyonychia congenita responding favorably to a combination of surgical and medical therapies.
Dermatol Ther
; 32(5): e13045, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31364784
11.
Keratin 12 missense mutation induces the unfolded protein response and apoptosis in Meesmann epithelial corneal dystrophy.
Hum Mol Genet
; 25(6): 1176-91, 2016 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26758872
12.
Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.
Am J Hum Genet
; 96(3): 440-7, 2015 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25683118
13.
Incorporation Modes of Iodate in Calcite.
Environ Sci Technol
; 52(10): 5902-5910, 2018 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29699395
14.
Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance.
Am J Hum Genet
; 93(3): 471-81, 2013 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23993193
15.
Uniparental disomy (UPD) of a novel bisphosphoglycerate mutase (BPGM) mutation leading to erythrocytosis.
Br J Haematol
; 192(1): 220-223, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33216349
16.
A method for noninvasive prenatal diagnosis of monogenic autosomal recessive disorders.
Blood
; 134(14): 1190-1193, 2019 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31444163
17.
Computational Investigation of Technetium(IV) Incorporation into Inverse Spinels: Magnetite (Fe3O4) and Trevorite (NiFe2O4).
Environ Sci Technol
; 50(10): 5216-24, 2016 05 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-27049925
18.
Antagonistic coevolution accelerates molecular evolution.
Nature
; 464(7286): 275-8, 2010 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-20182425
19.
Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin.
J Allergy Clin Immunol
; 136(5): 1268-76, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26073755
20.
Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema.
Nat Genet
; 39(5): 650-4, 2007 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17417636