Detalhe da pesquisa
1.
Prdx5 regulates DNA damage response through autophagy-dependent Sirt2-p53 axis.
Hum Mol Genet
; 32(4): 567-579, 2023 01 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36067023
2.
Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.
Am J Hum Genet
; 109(8): 1484-1499, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35896117
3.
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.
Am J Hum Genet
; 109(1): 136-156, 2022 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34890546
4.
Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease.
Gastroenterology
; 166(5): 902-914, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38101549
5.
State of the Science and Ethical Considerations for Preimplantation Genetic Testing for Monogenic Cystic Kidney Diseases and Ciliopathies.
J Am Soc Nephrol
; 35(2): 235-248, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37882743
6.
Global analysis of urinary extracellular vesicle small RNAs in autosomal dominant polycystic kidney disease.
J Gene Med
; 26(2): e3674, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38404150
7.
Association of Kidney Cysts With Progressive CKD After Radical Nephrectomy.
Am J Kidney Dis
; 2024 Jan 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38280640
8.
PKD1 Truncating Mutations Accelerate eGFR Decline in Autosomal Dominant Polycystic Kidney Disease Patients.
Am J Nephrol
; 2024 Jan 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38194940
9.
Combining genotype with height-adjusted kidney length predicts rapid progression of ADPKD.
Nephrol Dial Transplant
; 2024 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38224954
10.
Accuracy and processing time of kidney volume measurement methods in rodents polycystic kidney disease models: superiority of semiautomated kidney segmentation.
Am J Physiol Renal Physiol
; 324(4): F423-F430, 2023 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36794756
11.
Utility of new image-derived biomarkers for autosomal dominant polycystic kidney disease prognosis using automated instance cyst segmentation.
Kidney Int
; 104(2): 334-342, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36736536
12.
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.
Kidney Int
; 104(5): 995-1007, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37598857
13.
Netrin-1 Overexpression Induces Polycystic Kidney Disease: A Novel Mechanism Contributing to Cystogenesis in Autosomal Dominant Polycystic Kidney Disease.
Am J Pathol
; 192(6): 862-875, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35358475
14.
Protein Kinase A Downregulation Delays the Development and Progression of Polycystic Kidney Disease.
J Am Soc Nephrol
; 33(6): 1087-1104, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35236775
15.
Disrupting polycystin-2 EF hand Ca2+ affinity does not alter channel function or contribute to polycystic kidney disease.
J Cell Sci
; 133(24)2020 12 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-33199522
16.
Up-Regulation of DNA Damage Response Signaling in Autosomal Dominant Polycystic Kidney Disease.
Am J Pathol
; 191(5): 902-920, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33549515
17.
Primary Hyperoxaluria Type 3 Can Also Result in Kidney Failure: A Case Report.
Am J Kidney Dis
; 79(1): 125-128, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34245816
18.
Congenital Heart Disease in Adults with Autosomal Dominant Polycystic Kidney Disease.
Am J Nephrol
; 53(4): 316-324, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35313307
19.
Clinical characterization of primary hyperoxaluria type 3 in comparison with types 1 and 2.
Nephrol Dial Transplant
; 37(5): 869-875, 2022 04 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33543760
20.
mtor Haploinsufficiency Ameliorates Renal Cysts and Cilia Abnormality in Adult Zebrafish tmem67 Mutants.
J Am Soc Nephrol
; 32(4): 822-836, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33574160