Detalhe da pesquisa
1.
Systemic complement levels in patients with age-related macular degeneration carrying rare or low-frequency variants in the CFH gene.
Hum Mol Genet
; 31(3): 455-470, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34508573
2.
Tacrolimus induces a pro-fibrotic response in donor-derived human proximal tubule cells dependent on common variants of the CYP3A5 and ABCB1 genes.
Nephrol Dial Transplant
; 38(3): 599-609, 2023 02 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35945682
3.
Protective mechanisms harnessing against injurious heme and preventing kidney damage in STEC-HUS: toward new therapies?
Kidney Int
; 101(6): 1107-1109, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35597589
4.
Effect of rare coding variants in the CFI gene on Factor I expression levels.
Hum Mol Genet
; 29(14): 2313-2324, 2020 08 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32510551
5.
Kidney injury rates after unilateral nephrectomy in childhood-a systematic review and meta-analysis.
Nephrol Dial Transplant
; 37(12): 2457-2473, 2022 11 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35099015
6.
Cell Biological Responses after Shiga Toxin-1 Exposure to Primary Human Glomerular Microvascular Endothelial Cells from Pediatric and Adult Origin.
Int J Mol Sci
; 22(11)2021 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34070679
7.
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.
Brain
; 140(6): 1595-1610, 2017 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28549128
8.
The genetics of atypical hemolytic uremic syndrome.
Med Genet
; 30(4): 400-409, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30930551
9.
Serological and genetic complement alterations in infection-induced and complement-mediated hemolytic uremic syndrome.
Pediatr Nephrol
; 32(2): 297-309, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27718086
10.
Evolution of a new enzyme for carbon disulphide conversion by an acidothermophilic archaeon.
Nature
; 478(7369): 412-6, 2011 Oct 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-22012399
11.
Complement Factor H Serum Levels Determine Resistance to Pneumococcal Invasive Disease.
J Infect Dis
; 213(11): 1820-7, 2016 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26802141
12.
A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy.
Brain
; 136(Pt 5): 1544-54, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23599390
13.
Cationic uremic toxins affect human renal proximal tubule cell functioning through interaction with the organic cation transporter.
Pflugers Arch
; 465(12): 1701-14, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23812163
14.
The challenge of managing hemophilia A and STEC-induced hemolytic uremic syndrome.
Pediatr Nephrol
; 28(2): 349-52, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23001024
15.
Impact of infection on proteome-wide glycosylation revealed by distinct signatures for bacterial and viral pathogens.
iScience
; 26(8): 107257, 2023 Aug 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37520696
16.
Impaired ubiquitin-proteasome-mediated PGC-1α protein turnover and induced mitochondrial biogenesis secondary to complex-I deficiency.
Proteomics
; 12(9): 1349-62, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22589185
17.
A comprehensive full factorial LC-MS/MS proteomics benchmark data set.
Proteomics
; 12(14): 2276-81, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22887946
18.
Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.
Am J Hum Genet
; 84(6): 718-27, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19463981
19.
Atypical hemolytic uremic syndrome and genetic aberrations in the complement factor H-related 5 gene.
J Hum Genet
; 57(7): 459-64, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22622361
20.
Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation.
J Inherit Metab Dis
; 35(6): 1059-69, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22403016