Detalhe da pesquisa
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-35947615
2.
Influence of glycoprotein MUC1 on trafficking of the Ca2+-selective ion channels, TRPV5 and TRPV6, and on in vivo calcium homeostasis.
J Biol Chem
; 299(3): 102925, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36682497
3.
Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis.
Kidney Int
; 105(4): 799-811, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38096951
4.
Autosomal dominant tubulointerstitial kidney disease: A review.
Am J Med Genet C Semin Med Genet
; 190(3): 309-324, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36250282
5.
Autosomal dominant tubulointerstitial kidney disease: more than just HNF1ß.
Pediatr Nephrol
; 37(5): 933-946, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34021396
6.
Ultrabright plasmonic fluor nanolabel-enabled detection of a urinary ER stress biomarker in autosomal dominant tubulointerstitial kidney disease.
Am J Physiol Renal Physiol
; 321(2): F236-F244, 2021 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34251273
7.
Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations.
Am J Nephrol
; 52(5): 378-387, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34098564
8.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-32450155
9.
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
10.
Outcomes of patient self-referral for the diagnosis of several rare inherited kidney diseases.
Genet Med
; 22(1): 142-149, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31337885
11.
Utility of Genomic Testing after Renal Biopsy.
Am J Nephrol
; 51(1): 43-53, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31822006
12.
Renal transplant outcomes in patients with autosomal dominant tubulointerstitial kidney disease.
Clin Transplant
; 34(2): e13783, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31958169
13.
Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.
Am J Hum Genet
; 99(1): 174-87, 2016 Jul 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27392076
14.
A randomized trial of vonapanitase (PATENCY-1) to promote radiocephalic fistula patency and use for hemodialysis.
J Vasc Surg
; 69(2): 507-515, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30683197
15.
Quality of life in patients with autosomal dominant tubulointerstitial kidney diseaseâ©.
Clin Nephrol
; 92(6): 302-311, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31587753
16.
Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.
J Am Soc Nephrol
; 29(9): 2418-2431, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29967284
17.
Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family.
Kidney Int
; 103(5): 986-989, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37085259
18.
Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.
Hum Mol Genet
; 25(18): 4062-4079, 2016 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27466185
19.
Chronic tubulointerstitial kidney disease in untreated adenine phosphoribosyl transferase (APRT) deficiency: A case reportâ©.
Clin Nephrol
; 90(4): 296-301, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30106368
20.
Description of a New Simple and Cost-Effective Molecular Testing That Could Simplify MUC1 Variant Detection.
Kidney Int Rep
; 9(5): 1451-1457, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38707821