Detalhe da pesquisa
1.
Nephronophthisis: a pathological and genetic perspective.
Pediatr Nephrol
; 2023 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37930417
2.
Gentamicin Inhibits Ca2+ Channel TRPV5 and Induces Calciuresis Independent of the Calcium-Sensing Receptor-Claudin-14 Pathway.
J Am Soc Nephrol
; 33(3): 547-564, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35022312
3.
Autosomal dominant tubulointerstitial kidney disease: more than just HNF1ß.
Pediatr Nephrol
; 37(5): 933-946, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34021396
4.
The roles of homocysteinemia and methylmalonic acidemia in kidney injury in atypical hemolytic uremic syndrome caused by cobalamin C deficiency.
Pediatr Nephrol
; 37(6): 1415-1418, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34854955
5.
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes.
Kidney Int
; 98(6): 1589-1604, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32750457
6.
Uromodulin regulates renal magnesium homeostasis through the ion channel transient receptor potential melastatin 6 (TRPM6).
J Biol Chem
; 293(42): 16488-16502, 2018 10 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-30139743
7.
Uromodulin in mineral metabolism.
Curr Opin Nephrol Hypertens
; 28(5): 481-489, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31205055
8.
Mercury Intoxication as a Rare Cause of Membranous Nephropathy in a Child.
Am J Kidney Dis
; 72(4): 601-605, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30041877
9.
Mucin-1 Increases Renal TRPV5 Activity In Vitro, and Urinary Level Associates with Calcium Nephrolithiasis in Patients.
J Am Soc Nephrol
; 27(11): 3447-3458, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27036738
10.
A rare case of hyporeninemic hypertension: Questions.
Pediatr Nephrol
; 36(3): 567-568, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32607770
11.
A rare case of hyporeninemic hypertension: Answers.
Pediatr Nephrol
; 36(3): 569-573, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32607771
12.
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
Nat Genet
; 39(7): 875-81, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17558409
13.
Klotho up-regulates renal calcium channel transient receptor potential vanilloid 5 (TRPV5) by intra- and extracellular N-glycosylation-dependent mechanisms.
J Biol Chem
; 289(52): 35849-57, 2014 Dec 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-25378396
14.
Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.
Kidney Int
; 88(4): 676-83, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25738250
15.
Nephronophthisis and related syndromes.
Curr Opin Pediatr
; 27(2): 201-11, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25635582
16.
Homozygous NEK8 Mutations in Siblings With Neonatal Cholestasis Progressing to End-stage Liver, Renal, and Cardiac Disease.
J Pediatr Gastroenterol Nutr
; 70(1): e19-e22, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31633649
17.
Ghrelin enhances tubular magnesium absorption in the kidney.
Front Physiol
; 15: 1363708, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38638279
18.
Uromodulin upregulates TRPV5 by impairing caveolin-mediated endocytosis.
Kidney Int
; 84(1): 130-7, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23466996
19.
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.
Nat Genet
; 34(4): 455-9, 2003 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-12872122
20.
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.
Nat Genet
; 34(4): 413-20, 2003 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-12872123