Detalhe da pesquisa
1.
Learning Physiology From Inherited Kidney Disorders.
Physiol Rev
; 99(3): 1575-1653, 2019 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31215303
2.
An intermediate-effect size variant in UMOD confers risk for chronic kidney disease.
Proc Natl Acad Sci U S A
; 119(33): e2114734119, 2022 08 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35947615
3.
Uromodulin: Roles in Health and Disease.
Annu Rev Physiol
; 83: 477-501, 2021 02 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33566673
4.
Multisystem involvement, defective lysosomes and impaired autophagy in a novel rat model of nephropathic cystinosis.
Hum Mol Genet
; 31(13): 2262-2278, 2022 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35137071
5.
AQP1 Promoter Variant, Water Transport, and Outcomes in Peritoneal Dialysis.
N Engl J Med
; 385(17): 1570-1580, 2021 10 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34670044
6.
Fasting influences aquaporin expression, water transport and adipocyte metabolism in the peritoneal membrane.
Nephrol Dial Transplant
; 38(6): 1408-1420, 2023 05 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-36520078
7.
Uromodulin and its association with urinary metabolites: the German Chronic Kidney Disease Study.
Nephrol Dial Transplant
; 38(1): 70-79, 2023 Jan 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35612992
8.
Meta-GWAS Reveals Novel Genetic Variants Associated with Urinary Excretion of Uromodulin.
J Am Soc Nephrol
; 33(3): 511-529, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35228297
9.
UMOD and the architecture of kidney disease.
Pflugers Arch
; 474(8): 771-781, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35881244
10.
An update on the use of tolvaptan for autosomal dominant polycystic kidney disease: consensus statement on behalf of the ERA Working Group on Inherited Kidney Disorders, the European Rare Kidney Disease Reference Network and Polycystic Kidney Disease International.
Nephrol Dial Transplant
; 37(5): 825-839, 2022 04 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35134221
11.
Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional study.
Nephrol Dial Transplant
; 37(12): 2474-2486, 2022 11 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35137195
12.
The Effect of Tolvaptan on BP in Polycystic Kidney Disease: A Post Hoc Analysis of the TEMPO 3:4 Trial.
J Am Soc Nephrol
; 32(7): 1801-1812, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33888577
13.
Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.
J Am Soc Nephrol
; 32(6): 1498-1512, 2021 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33811157
14.
Genetic insights into rapid kidney function decline.
Kidney Int
; 99(4): 805-808, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33745545
15.
Mendelian randomization to assess causality between uromodulin, blood pressure and chronic kidney disease.
Kidney Int
; 100(6): 1282-1291, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34634361
16.
A genome-wide association study suggests correlations of common genetic variants with peritoneal solute transfer rates in patients with kidney failure receiving peritoneal dialysis.
Kidney Int
; 100(5): 1101-1111, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34197840
17.
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
18.
OCRL deficiency impairs endolysosomal function in a humanized mouse model for Lowe syndrome and Dent disease.
Hum Mol Genet
; 28(12): 1931-1946, 2019 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30590522
20.
Cell-Based Phenotypic Drug Screening Identifies Luteolin as Candidate Therapeutic for Nephropathic Cystinosis.
J Am Soc Nephrol
; 31(7): 1522-1537, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32503896