Detalhe da pesquisa
1.
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.
Cell
; 150(3): 533-48, 2012 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-22863007
2.
Agonists of prostaglandin E2 receptors as potential first in class treatment for nephronophthisis and related ciliopathies.
Proc Natl Acad Sci U S A
; 119(18): e2115960119, 2022 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35482924
3.
A small molecule chaperone rescues keratin-8 mediated trafficking of misfolded podocin to correct genetic Nephrotic Syndrome.
Kidney Int
; 105(4): 744-758, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37995908
4.
A wave of deep intronic mutations in X-linked Alport syndrome.
Kidney Int
; 104(2): 367-377, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37230224
5.
The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.
Kidney Int
; 104(2): 378-387, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37230223
6.
Overcoming the challenges associated with identification of deep intronic variants by whole genome sequencing.
Clin Genet
; 103(6): 693-698, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36705481
7.
TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways.
Am J Hum Genet
; 104(2): 348-355, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30661770
8.
Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice.
Nephrol Dial Transplant
; 37(2): 239-254, 2022 01 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34264297
9.
Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a renal-hepatic-pancreatic dysplasia.
Kidney Int
; 99(2): 405-409, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33129895
10.
An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis.
Kidney Int
; 100(5): 1112-1123, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34237326
11.
Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.
PLoS Genet
; 14(10): e1007748, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30365502
12.
A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.
PLoS Genet
; 14(5): e1007386, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29768408
13.
Central nervous system complications in adult cystinosis patients.
J Inherit Metab Dis
; 43(2): 348-356, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31444911
14.
Bi-allelic mutations in renin-angiotensin system genes, associated with renal tubular dysgenesis, can also present as a progressive chronic kidney disease.
Pediatr Nephrol
; 35(6): 1125-1128, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32198635
15.
Protection of Cystinotic Mice by Kidney-Specific Megalin Ablation Supports an Endocytosis-Based Mechanism for Nephropathic Cystinosis Progression.
J Am Soc Nephrol
; 30(11): 2177-2190, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31548351
16.
Endoplasmic reticulum-retained podocin mutants are massively degraded by the proteasome.
J Biol Chem
; 293(11): 4122-4133, 2018 03 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-29382718
17.
Interaction between galectin-3 and cystinosin uncovers a pathogenic role of inflammation in kidney involvement of cystinosis.
Kidney Int
; 96(2): 350-362, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30928021
18.
APOL1 risk genotype in European steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis patients of different African ancestries.
Nephrol Dial Transplant
; 34(11): 1885-1893, 2019 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29992269
19.
Impact of Cystinosin Glycosylation on Protein Stability by Differential Dynamic Stable Isotope Labeling by Amino Acids in Cell Culture (SILAC).
Mol Cell Proteomics
; 16(3): 457-468, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28082515
20.
Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.
PLoS Genet
; 12(3): e1005894, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26967905