Detalhe da pesquisa
1.
Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine-dependent epilepsy.
J Inherit Metab Dis
; 46(1): 129-142, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36225138
2.
Distal and proximal hypoxia response elements cooperate to regulate organ-specific erythropoietin gene expression.
Haematologica
; 105(12): 2774-2784, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33256376
3.
Generation of renal Epo-producing cell lines by conditional gene tagging reveals rapid HIF-2 driven Epo kinetics, cell autonomous feedback regulation, and a telocyte phenotype.
Kidney Int
; 95(2): 375-387, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30502050
4.
New insights into human lysine degradation pathways with relevance to pyridoxine-dependent epilepsy due to antiquitin deficiency.
J Inherit Metab Dis
; 42(4): 620-628, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30767241
5.
Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy.
J Med Genet
; 54(12): 809-814, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28391250
6.
N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics.
J Inherit Metab Dis
; 39(1): 131-7, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26174906
7.
The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies.
J Inherit Metab Dis
; 39(5): 733-741, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27342130
8.
Cln5 represents a new type of cysteine-based S-depalmitoylase linked to neurodegeneration.
Sci Adv
; 8(15): eabj8633, 2022 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35427157
9.
Chicken ovalbumin upstream promoter-transcription factor II regulates nuclear receptor, myogenic, and metabolic gene expression in skeletal muscle cells.
Physiol Genomics
; 43(4): 213-27, 2011 Feb 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-21119012
10.
Rev-erb beta regulates the Srebp-1c promoter and mRNA expression in skeletal muscle cells.
Biochem Biophys Res Commun
; 388(4): 654-9, 2009 Oct 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-19682428
11.
A novel distal upstream hypoxia response element regulating oxygen-dependent erythropoietin gene expression.
Haematologica
; 99(4): e45-8, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24510339
12.
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
Eur J Hum Genet
; 27(3): 408-421, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30552426
13.
Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency.
PLoS One
; 12(5): e0176363, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28463998
14.
ABC transporter activity linked to radiation resistance and molecular subtype in pediatric medulloblastoma.
Exp Hematol Oncol
; 2(1): 26, 2013 Oct 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-24219920
15.
H-cadherin expression reduces invasion of malignant melanoma.
Pigment Cell Melanoma Res
; 22(3): 296-306, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19368692