Detalles de la búsqueda
1.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-35947615
2.
Uromodulin: Roles in Health and Disease.
Annu Rev Physiol
; 83: 477-501, 2021 02 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-33566673
3.
Cryo-EM structure of native human uromodulin, a zona pellucida module polymer.
EMBO J
; 39(24): e106807, 2020 12 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-33196145
4.
Clinical and genetic spectra of kidney disease caused by REN mutations.
Kidney Int
; 98(6): 1397-1400, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-33276865
5.
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1.
Kidney Int
; 98(3): 717-731, 2020 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-32450155
6.
Protein trafficking defects in inherited kidney diseases.
Nephrol Dial Transplant
; 29 Suppl 4: iv33-44, 2014 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-25165184
7.
Leader peptide or pro-segment mutants of renin are misrouted to mitochondria in autosomal dominant tubulointerstitial kidney disease.
Dis Model Mech
; 16(6)2023 06 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37283036
8.
Allelic effects on uromodulin aggregates drive autosomal dominant tubulointerstitial kidney disease.
EMBO Mol Med
; 15(12): e18242, 2023 Dec 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-37885358
9.
Urinary secretion and extracellular aggregation of mutant uromodulin isoforms.
Kidney Int
; 81(8): 769-78, 2012 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-22237754
10.
A transgenic mouse model for uromodulin-associated kidney diseases shows specific tubulo-interstitial damage, urinary concentrating defect and renal failure.
Hum Mol Genet
; 19(15): 2998-3010, 2010 Aug 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-20472742
11.
Autosomal Dominant Tubulointerstitial Kidney Disease: An Emerging Cause of Genetic CKD.
Kidney Int Rep
; 7(11): 2332-2344, 2022 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-36531871
12.
α-Gal A missense variants associated with Fabry disease can lead to ER stress and induction of the unfolded protein response.
Mol Genet Metab Rep
; 33: 100926, 2022 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-36345359
13.
The G-quartet containing FMRP binding site in FMR1 mRNA is a potent exonic splicing enhancer.
Nucleic Acids Res
; 36(15): 4902-12, 2008 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-18653529
14.
Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations.
Kidney Int Rep
; 5(9): 1472-1485, 2020 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-32954071
15.
Hepatitis B virus X protein affects S phase progression leading to chromosome segregation defects by binding to damaged DNA binding protein 1.
Hepatology
; 48(5): 1467-76, 2008 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-18781669
16.
Significant increase in the apparent incidence of essential thrombocythemia related to new WHO diagnostic criteria: a population-based study.
Haematologica
; 94(6): 865-9, 2009 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-19377078
17.
Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein.
Sci Rep
; 9(1): 11601, 2019 08 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31406136
18.
Frequent reduction or absence of detection of the JAK2-mutated clone in JAK2V617F-positive patients within the first years of hydroxyurea therapy.
Haematologica
; 93(11): 1723-7, 2008 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-18728027
19.
Regulation of IRE1 RNase activity by the Ribonuclease inhibitor 1 (RNH1).
Cell Cycle
; 17(15): 1901-1916, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-30109813
20.
[Mutant uromodulin is secreted in the urine of patients with familial hyperuricemic nephropathy and induces the formation of extracellular aggregates]. / L'uromodulina mutata è secreta nelle urine di pazienti affetti da nefropatia iperuricemica familiare ed induce la formazione di aggregati extracellulari.
G Ital Nefrol
; 29(2): 137-41, 2012.
Artículo
en Italiano
| MEDLINE | ID: mdl-22538938