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Novel roles for mucin 1 in the kidney.
Al-Bataineh MM, Sutton TA, Hughey RP. Al-Bataineh MM, et al. Curr Opin Nephrol Hypertens. 2017 Sep;26(5):384-391. doi: 10.1097/MNH.0000000000000350. Curr Opin Nephrol Hypertens. 2017. PMID: 28622163 Free PMC article. Review.
A frameshift mutation in MUC1 was recently identified as the genetic lesion causing medullary cystic kidney disease type 1, now appropriately renamed MUC1 Kidney Disease. SUMMARY: Studies of mucin 1 in the kidney now reveal significant fu …
A frameshift mutation in MUC1 was recently identified as the genetic lesion causing medullary cystic kidney disease …
Autosomal Tubulointerstitial Kidney Disease-MUC1 Type: Differential Proteomics Suggests that Mutated MUC1 (insC) Affects Vesicular Transport in Renal Epithelial Cells.
Staubach S, Wenzel A, Beck BB, Rinschen MM, Müller S, Hanisch FG. Staubach S, et al. Proteomics. 2018 Apr;18(7):e1700456. doi: 10.1002/pmic.201700456. Epub 2018 Mar 13. Proteomics. 2018. PMID: 29436780
Autosomal dominant tubulointerstitial kidney disease associated to the MUC1 gene (ADTKD-MUC1; formerly MCKD1) belongs to a heterogeneous group of rare hereditary kidney diseases that is prototypically caused by frameshift mutations in the MUC1 repeat domain. ...
Autosomal dominant tubulointerstitial kidney disease associated to the MUC1 gene (ADTKD-MUC1; formerly MCKD1) belongs to a heterogene …
Development and Validation of a Mass Spectrometry-Based Assay for the Molecular Diagnosis of Mucin-1 Kidney Disease.
Blumenstiel B, DeFelice M, Birsoy O, Bleyer AJ, Kmoch S, Carter TA, Gnirke A, Kidd K, Rehm HL, Ronco L, Lander ES, Gabriel S, Lennon NJ. Blumenstiel B, et al. J Mol Diagn. 2016 Jul;18(4):566-71. doi: 10.1016/j.jmoldx.2016.03.003. Epub 2016 May 5. J Mol Diagn. 2016. PMID: 27157321 Free article.
Mucin-1 kidney disease, previously described as medullary cystic kidney disease type 1 (MCKD1, OMIM 174000), is an autosomal dominant tubulointerstitial kidney disease recently shown to be caused by a single-base insertion within t …
Mucin-1 kidney disease, previously described as medullary cystic kidney disease type 1 (MCKD1 …
A case of sporadic medullary cystic kidney disease type 1 (MCKD1) with kidney enlargement complicated by IgA nephropathy.
Suzuki T, Iyoda M, Yamaguchi Y, Shibata T. Suzuki T, et al. Pathol Int. 2015 Jul;65(7):379-82. doi: 10.1111/pin.12292. Epub 2015 Mar 27. Pathol Int. 2015. PMID: 25818408
Thereafter, his kidney function decreased progressively and he started to receive hemodialysis. This is an interesting case of MCKD1 in terms of its sporadic nature, kidney enlargement, and complication of IgA-N....
Thereafter, his kidney function decreased progressively and he started to receive hemodialysis. This is an interesting case of MCKD1 …
Autosomal Dominant Tubulointerstitial Kidney Disease Due to MUC1 Mutation.
Yu SM, Bleyer AJ, Anis K, Herlitz L, Živná M, Hůlková H, Markowitz GS, Jim B. Yu SM, et al. Am J Kidney Dis. 2018 Apr;71(4):495-500. doi: 10.1053/j.ajkd.2017.08.024. Epub 2017 Dec 6. Am J Kidney Dis. 2018. PMID: 29217307
Mucin 1 kidney disease, previously referred to as medullary cystic kidney disease type 1, is a rare hereditary kidney disease. It is one of several diseases now termed autosomal dominant tubulointerstitial kidney disease, as proposed by a …
Mucin 1 kidney disease, previously referred to as medullary cystic kidney disease type 1, is a rar …
Genetic Testing of the mucin 1 gene-Variable Number Tandem Repeat Single Cytosine Insertion Mutation in a Chinese Family with Medullary Cystic Kidney Disease.
Si N, Zheng K, Ma J, Meng XL, Li XM, Zhang X. Si N, et al. Chin Med J (Engl). 2017 Oct 20;130(20):2459-2464. doi: 10.4103/0366-6999.216408. Chin Med J (Engl). 2017. PMID: 29052568 Free PMC article.
A specific type of single cytosine insertion in the variable number tandem repeat (VNTR) of the mucin 1 (MUC1) gene is the only known cause of MCKD1; however, genetic analysis of this mutation is difficult and not yet offered routinely. ...CONCLUSIONS: Clinical and genetic …
A specific type of single cytosine insertion in the variable number tandem repeat (VNTR) of the mucin 1 (MUC1) gene is the only known cause …
Testing for the cytosine insertion in the VNTR of the MUC1 gene in a cohort of Italian patients with autosomal dominant tubulointerstitial kidney disease.
Musetti C, Babu D, Fusco I, Mellone S, Zonta A, Quaglia M, Cantaluppi V, Stratta P, Giordano M. Musetti C, et al. J Nephrol. 2016 Jun;29(3):451-455. doi: 10.1007/s40620-016-0282-9. Epub 2016 Mar 4. J Nephrol. 2016. PMID: 26943180
INTRODUCTION: Medullary cystic kidney disease type 1 (MCKD1; OMIM #174000) is a familial progressive tubule-interstitial nephropathy belonging to the recently defined group of autosomal dominant tubulointerstitial kidney diseases ( …
INTRODUCTION: Medullary cystic kidney disease type 1 (MCKD1; OMIM #174000) is a familial pr …
Analysis of an ADTKD family with a novel frameshift mutation in MUC1 reveals characteristic features of mutant MUC1 protein.
Yamamoto S, Kaimori JY, Yoshimura T, Namba T, Imai A, Kobayashi K, Imamura R, Ichimaru N, Kato K, Nakaya A, Takahara S, Isaka Y. Yamamoto S, et al. Nephrol Dial Transplant. 2017 Dec 1;32(12):2010-2017. doi: 10.1093/ndt/gfx083. Nephrol Dial Transplant. 2017. PMID: 29156055
BACKGROUND: Medullary cystic kidney disease Type 1 is an autosomal dominant tubulointerstitial kidney disease (ADTKD). ...
BACKGROUND: Medullary cystic kidney disease Type 1 is an autosomal dominant tubulointerstitial kid …