Detalhe da pesquisa
1.
Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis.
Kidney Int
; 105(4): 799-811, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38096951
2.
Mechanism of efficient double-strand break repair by a long non-coding RNA.
Nucleic Acids Res
; 48(19): 10953-10972, 2020 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33045735
3.
PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome.
Hum Mol Genet
; 28(22): 3805-3814, 2019 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31600779
4.
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes.
Kidney Int
; 98(6): 1589-1604, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32750457
5.
PDGFRB mutation and tyrosine kinase inhibitor resistance in Ph-like acute lymphoblastic leukemia.
Blood
; 131(20): 2256-2261, 2018 05 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-29434033
6.
Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.
Am J Hum Genet
; 99(1): 174-87, 2016 Jul 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27392076
7.
Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females.
Rheumatology (Oxford)
; 57(7): 1180-1185, 2018 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30423175
8.
Chronic tubulointerstitial kidney disease in untreated adenine phosphoribosyl transferase (APRT) deficiency: A case reportâ©.
Clin Nephrol
; 90(4): 296-301, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30106368
9.
Mechanism of efficient double-strand break repair by a long non-coding RNA.
Nucleic Acids Res
; 49(2): 1199-1200, 2021 01 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33337499
10.
Oligomeric interface modulation causes misregulation of purine 5´-nucleotidase in relapsed leukemia.
BMC Biol
; 14(1): 91, 2016 10 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-27756303
11.
Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate.
J Inherit Metab Dis
; 38(2): 287-94, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25331909
12.
Biochemical properties of nematode O-acetylserine(thiol)lyase paralogs imply their distinct roles in hydrogen sulfide homeostasis.
Biochim Biophys Acta
; 1834(12): 2691-701, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24100226
13.
Conformationally constrained nucleoside phosphonic acids--potent inhibitors of human mitochondrial and cytosolic 5'(3')-nucleotidases.
Org Biomol Chem
; 12(40): 7971-82, 2014 Oct 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-25178098
14.
Novel structural arrangement of nematode cystathionine ß-synthases: characterization of Caenorhabditis elegans CBS-1.
Biochem J
; 443(2): 535-47, 2012 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22240119
15.
Conformational properties of nine purified cystathionine ß-synthase mutants.
Biochemistry
; 51(23): 4755-63, 2012 06 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-22612060
16.
Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts.
J Inherit Metab Dis
; 35(3): 469-77, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22069143
17.
Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: a cellular model of adenylosuccinate lyase deficiency.
Mol Genet Metab
; 102(1): 61-8, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20884265
18.
Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency.
J Inherit Metab Dis
; 34(1): 49-55, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20821054
19.
Stages, scaffolds and strings in the spatial organisation of non-homologous end joining: Insights from X-ray diffraction and Cryo-EM.
Prog Biophys Mol Biol
; 163: 60-73, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33285184
20.
Dimers of DNA-PK create a stage for DNA double-strand break repair.
Nat Struct Mol Biol
; 28(1): 13-19, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33077952