| [1] |
Econimo L, Schaeffer C, Zeni L, et al. Autosomal dominant tubulointerstitial kidney disease: an emerging cause of genetic CKD [J]. Kidney Int Rep, 2022, 7(11): 2332-2344.
|
| [2] |
Eckardt KU, Alper SL, Antignac C, et al. Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--a KDIGO consensus report [J]. Kidney Int, 2015, 88(4): 676-683.
|
| [3] |
Bolar NA, Golzio C, Živná M, et al. Heterozygous loss-of-function SEC61A1 mutations cause autosomal-dominant tubulo-interstitial and glomerulocystic kidney disease with anemia [J]. Am J Hum Genet, 2016, 99(1): 174-187.
|
| [4] |
Kirby A, Gnirke A, Jaffe DB, et al. Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing [J]. Nat Genet, 2013, 45(3): 299-303.
|
| [5] |
Ekici AB, Hackenbeck T, Morinière V, et al. Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin [J]. Kidney Int, 2014, 86(3): 589-599.
|
| [6] |
Bi J, Guo W, Ji P, et al. The spectrum of diseases, genetic landscape and new mutation sites of hereditary cystic kidney disease [J]. Clin Kidney J, 2025, 18(4): sfaf064.
|
| [7] |
Gendler SJ, Lancaster CA, Taylor-Papadimitriou J, et al. Molecular cloning and expression of human tumor-associated polymorphic epithelial mucin [J]. J Biol Chem, 1990, 265(25): 15286-15293.
|
| [8] |
Lan MS, Batra SK, Qi WN, et al. Cloning and sequencing of a human pancreatic tumor mucin cDNA [J]. J Biol Chem, 1990, 265(25): 15294-15299.
|
| [9] |
Bensouna I, Robert T, Vanhoye X, et al. Systematic screening of autosomal dominant tubulointerstitial kidney disease-MUC1 27dupC pathogenic variant through exome sequencing [J]. J Am Soc Nephrol, 2025, 36(2): 256-263.
|
| [10] |
Xu D, Mao A, Chen L, et al. Comprehensive analysis of PKD1 and PKD2 by long-read sequencing in autosomal dominant polycystic kidney disease [J]. Clin Chem, 2024, 70(6): 841-854.
|
| [11] |
Zhang T, Zhou J, Gao W, et al. Complex genome assembly based on long-read sequencing [J]. Brief Bioinform, 2022, 23(5): bbac305.
|
| [12] |
Olinger E, Hofmann P, Kidd K, et al. Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1 [J]. Kidney Int, 2020, 98(3): 717-731.
|
| [13] |
Levitin F, Baruch A, Weiss M, et al. A novel protein derived from the MUC1 gene by alternative splicing and frameshifting [J]. J Biol Chem, 2005, 280(11): 10655-10663.
|
| [14] |
Dvela-Levitt M, Kost-Alimova M, Emani M, et al. Small molecule targets TMED9 and promotes lysosomal degradation to reverse proteinopathy [J]. Cell, 2019, 178(3): 521-535.
|
| [15] |
Živná M, Kidd K, Pristoupilová A, et al. Noninvasive immunohistochemical diagnosis and novel MUC1 mutations causing autosomal dominant tubulointerstitial kidney disease [J]. J Am Soc Nephrol, 2018, 29(9): 2418-2431.
|