Detalhe da pesquisa
1.
Whole-genome sequencing of patients with rare diseases in a national health system.
Nature
; 583(7814): 96-102, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32581362
2.
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
3.
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.
Am J Hum Genet
; 108(2): 357-367, 2021 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33508234
4.
Evaluation of a proteomic signature coupled with the kidney failure risk equation in predicting end stage kidney disease in a chronic kidney disease cohort.
Clin Proteomics
; 21(1): 34, 2024 May 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38762513
5.
Highly efficient CRISPR-mediated large DNA docking and multiplexed prime editing using a single baculovirus.
Nucleic Acids Res
; 50(13): 7783-7799, 2022 07 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35801912
6.
Kidney Organoids Generated Using an Allelic Series of NPHS2 Point Variants Reveal Distinct Intracellular Podocin Mistrafficking.
J Am Soc Nephrol
; 34(1): 88-109, 2023 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36167728
7.
Pit 1 transporter (SLC20A1) as a key factor in the NPP1-mediated inhibition of insulin signaling in human podocytes.
J Cell Physiol
; 238(8): 1921-1936, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37269459
8.
Podocyte protease activated receptor 1 stimulation in mice produces focal segmental glomerulosclerosis mirroring human disease signaling events.
Kidney Int
; 104(2): 265-278, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36940798
9.
The TRAPP complex mediates secretion arrest induced by stress granule assembly.
EMBO J
; 38(19): e101704, 2019 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31429971
10.
Proteomic signature associated with chronic kidney disease (CKD) progression identified by data-independent acquisition mass spectrometry.
Clin Proteomics
; 20(1): 19, 2023 Apr 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37076799
11.
Associations with age and glomerular filtration rate in a referred population with chronic kidney disease: methods and baseline data from a UK multicentre cohort study (NURTuRE-CKD).
Nephrol Dial Transplant
; 38(11): 2617-2626, 2023 Oct 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37230953
12.
What is circulating factor disease and how is it currently explained?
Pediatr Nephrol
; 38(11): 3513-3518, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36952039
13.
Shared genetic risk across different presentations of gene test-negative idiopathic nephrotic syndrome.
Pediatr Nephrol
; 38(6): 1793-1800, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36357634
14.
Interaction of Fabry Disease and Diabetes Mellitus: Suboptimal Recruitment of Kidney Protective Factors.
Int J Mol Sci
; 24(21)2023 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37958836
15.
Hyperglycemic environment disrupts phosphate transporter function and promotes calcification processes in podocytes and isolated glomeruli.
J Cell Physiol
; 237(5): 2478-2491, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35150131
16.
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
17.
Hyperglycemia alters mitochondrial respiration efficiency and mitophagy in human podocytes.
Exp Cell Res
; 407(1): 112758, 2021 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34437881
18.
Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model.
Pediatr Nephrol
; 37(11): 2643-2656, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35211795
19.
A novel method for successful induction of interdigitating process formation in conditionally immortalized podocytes from mice, rats, and humans.
Biochem Biophys Res Commun
; 570: 47-52, 2021 09 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34271436
20.
A critical re-analysis of cases of post-transplantation recurrence in genetic nephrotic syndrome.
Pediatr Nephrol
; 36(11): 3757-3769, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34031708