Search details
1.
Small Molecule Targets TMED9 and Promotes Lysosomal Degradation to Reverse Proteinopathy.
Cell
; 178(3): 521-535.e23, 2019 07 25.
Article
in English
| MEDLINE | ID: mdl-31348885
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.
Article
in English
| MEDLINE | ID: mdl-35947615
3.
Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis.
Kidney Int
; 105(4): 799-811, 2024 Apr.
Article
in English
| 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.
Article
in English
| MEDLINE | ID: mdl-36250282
5.
A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis.
Kidney Int
; 101(2): 349-359, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34560138
6.
Factors that lead to dialysis as the preferred treatment modality for patients with chronic kidney disease.
Curr Opin Nephrol Hypertens
; 31(2): 180-184, 2022 03 01.
Article
in English
| MEDLINE | ID: mdl-34954719
7.
Genetic Etiologies for Chronic Kidney Disease Revealed through Next-Generation Renal Gene Panel.
Am J Nephrol
; 53(4): 297-306, 2022.
Article
in English
| MEDLINE | ID: mdl-35325889
8.
Autosomal dominant tubulointerstitial kidney disease: more than just HNF1ß.
Pediatr Nephrol
; 37(5): 933-946, 2022 05.
Article
in English
| MEDLINE | ID: mdl-34021396
9.
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.
Article
in English
| MEDLINE | ID: mdl-34251273
10.
PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome.
Hum Mol Genet
; 28(22): 3805-3814, 2019 11 15.
Article
in English
| MEDLINE | ID: mdl-31600779
11.
Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations.
Am J Nephrol
; 52(5): 378-387, 2021.
Article
in English
| MEDLINE | ID: mdl-34098564
12.
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.
Article
in English
| MEDLINE | ID: mdl-32450155
13.
Outcomes of patient self-referral for the diagnosis of several rare inherited kidney diseases.
Genet Med
; 22(1): 142-149, 2020 01.
Article
in English
| MEDLINE | ID: mdl-31337885
14.
Utility of Genomic Testing after Renal Biopsy.
Am J Nephrol
; 51(1): 43-53, 2020.
Article
in English
| MEDLINE | ID: mdl-31822006
15.
Renal transplant outcomes in patients with autosomal dominant tubulointerstitial kidney disease.
Clin Transplant
; 34(2): e13783, 2020 02.
Article
in English
| MEDLINE | ID: mdl-31958169
16.
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.
Article
in English
| MEDLINE | ID: mdl-27392076
17.
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.
Article
in English
| MEDLINE | ID: mdl-30683197
18.
Quality of life in patients with autosomal dominant tubulointerstitial kidney diseaseâ©.
Clin Nephrol
; 92(6): 302-311, 2019 Dec.
Article
in English
| MEDLINE | ID: mdl-31587753
19.
Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.
J Am Soc Nephrol
; 29(9): 2418-2431, 2018 09.
Article
in English
| MEDLINE | ID: mdl-29967284
20.
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.
Article
in English
| MEDLINE | ID: mdl-37085259