Detalhe da pesquisa
1.
The transcription factor ATF4 mediates endoplasmic reticulum stress-related podocyte injury and slit diaphragm defects.
Kidney Int
; 103(5): 872-885, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36587794
2.
DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation.
Am J Hum Genet
; 107(6): 1113-1128, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33232676
3.
OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis.
Genet Med
; 25(3): 100351, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36571463
4.
Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy.
Am J Hum Genet
; 104(1): 45-54, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30609407
5.
Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome.
J Am Soc Nephrol
; 32(3): 580-596, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33593823
6.
Novel nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitment.
Kidney Int
; 98(4): 958-969, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32505465
7.
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.
Am J Hum Genet
; 100(2): 323-333, 2017 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28089251
8.
Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients.
J Am Soc Nephrol
; 30(2): 201-215, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30655312
9.
The nucleoside-diphosphate kinase NME3 associates with nephronophthisis proteins and is required for ciliary function during renal development.
J Biol Chem
; 293(39): 15243-15255, 2018 09 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-30111592
10.
Monogenic causes of chronic kidney disease in adults.
Kidney Int
; 95(4): 914-928, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30773290
11.
Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis.
Hum Genet
; 138(3): 211-219, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30778725
12.
Mutations in SLC26A1 Cause Nephrolithiasis.
Am J Hum Genet
; 98(6): 1228-1234, 2016 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27210743
13.
Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome.
Nephrol Dial Transplant
; 34(3): 485-493, 2019 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29534211
14.
Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children.
Nephrol Dial Transplant
; 34(3): 474-485, 2019 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30295827
15.
GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome.
J Am Soc Nephrol
; 29(8): 2123-2138, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29959197
16.
Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.
J Am Soc Nephrol
; 29(9): 2348-2361, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30143558
17.
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.
Kidney Int
; 93(1): 204-213, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28893421
18.
DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling.
Am J Hum Genet
; 96(1): 81-92, 2015 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-25557784
19.
Mutations in WDR4 as a new cause of Galloway-Mowat syndrome.
Am J Med Genet A
; 176(11): 2460-2465, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30079490
20.
Modeling Monogenic Human Nephrotic Syndrome in the Drosophila Garland Cell Nephrocyte.
J Am Soc Nephrol
; 28(5): 1521-1533, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27932481