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Items: 1 to 20 of 84

1.

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.

Kirby A, Gnirke A, Jaffe DB, Barešová V, Pochet N, Blumenstiel B, Ye C, Aird D, Stevens C, Robinson JT, Cabili MN, Gat-Viks I, Kelliher E, Daza R, DeFelice M, Hůlková H, Sovová J, Vylet'al P, Antignac C, Guttman M, Handsaker RE, Perrin D, Steelman S, Sigurdsson S, Scheinman SJ, Sougnez C, Cibulskis K, Parkin M, Green T, Rossin E, Zody MC, Xavier RJ, Pollak MR, Alper SL, Lindblad-Toh K, Gabriel S, Hart PS, Regev A, Nusbaum C, Kmoch S, Bleyer AJ, Lander ES, Daly MJ.

Nat Genet. 2013 Mar;45(3):299-303. doi: 10.1038/ng.2543. Epub 2013 Feb 10.

2.

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.

Chin Med J (Engl). 2017 Oct 20;130(20):2459-2464. doi: 10.4103/0366-6999.216408.

3.

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.

J Nephrol. 2016 Jun;29(3):451-455. doi: 10.1007/s40620-016-0282-9. Epub 2016 Mar 4.

PMID:
26943180
4.

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.

Nephrol Dial Transplant. 2017 Dec 1;32(12):2010-2017. doi: 10.1093/ndt/gfx083.

PMID:
29156055
5.

Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1.

Bleyer AJ, Kmoch S, Antignac C, Robins V, Kidd K, Kelsoe JR, Hladik G, Klemmer P, Knohl SJ, Scheinman SJ, Vo N, Santi A, Harris A, Canaday O, Weller N, Hulick PJ, Vogel K, Rahbari-Oskoui FF, Tuazon J, Deltas C, Somers D, Megarbane A, Kimmel PL, Sperati CJ, Orr-Urtreger A, Ben-Shachar S, Waugh DA, McGinn S, Bleyer AJ Jr, Hodanová K, Vylet'al P, Živná M, Hart TC, Hart PS.

Clin J Am Soc Nephrol. 2014 Mar;9(3):527-35. doi: 10.2215/CJN.06380613. Epub 2014 Feb 7.

6.
7.

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.

J Mol Diagn. 2016 Jul;18(4):566-71. doi: 10.1016/j.jmoldx.2016.03.003. Epub 2016 May 5.

8.

Refinement of the gene locus for autosomal dominant medullary cystic kidney disease type 1 (MCKD1) and construction of a physical and partial transcriptional map of the region.

Fuchshuber A, Kroiss S, Karle S, Berthold S, Huck K, Burton C, Rahman N, Koptides M, Deltas C, Otto E, Rüschendorf F, Feest T, Hildebrandt F.

Genomics. 2001 Mar 15;72(3):278-84.

PMID:
11401443
9.

Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin.

Ekici AB, Hackenbeck T, Morinière V, Pannes A, Buettner M, Uebe S, Janka R, Wiesener A, Hermann I, Grupp S, Hornberger M, Huber TB, Isbel N, Mangos G, McGinn S, Soreth-Rieke D, Beck BB, Uder M, Amann K, Antignac C, Reis A, Eckardt KU, Wiesener MS.

Kidney Int. 2014 Sep;86(3):589-99. doi: 10.1038/ki.2014.72. Epub 2014 Mar 26.

10.

Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations.

Wenzel A, Altmueller J, Ekici AB, Popp B, Stueber K, Thiele H, Pannes A, Staubach S, Salido E, Nuernberg P, Reinhardt R, Reis A, Rump P, Hanisch FG, Wolf MTF, Wiesener M, Huettel B, Beck BB.

Sci Rep. 2018 Mar 8;8(1):4170. doi: 10.1038/s41598-018-22428-0.

11.

Bovine Muc1 is a highly polymorphic gene encoding an extensively glycosylated mucin that binds bacteria.

Sando L, Pearson R, Gray C, Parker P, Hawken R, Thomson PC, Meadows JR, Kongsuwan K, Smith S, Tellam RL.

J Dairy Sci. 2009 Oct;92(10):5276-91. doi: 10.3168/jds.2009-2216.

12.

Telomeric refinement of the MCKD1 locus on chromosome 1q21.

Wolf MT, van Vlem B, Hennies HC, Zalewski I, Karle SM, Puetz M, Panther F, Otto E, Fuchshuber A, Lameire N, Loeys B, Hildebrandt F.

Kidney Int. 2004 Aug;66(2):580-5.

13.

Analysis of Yak MUC1 Protein Polymorphisms and the Corresponding VNTR Structure.

Zheng Y, Fan Q, Liu Y, Zhao X, He X, Jin S.

Anim Biotechnol. 2009;20(4):231-7. doi: 10.1080/10495390903209928.

PMID:
19937497
14.

Mucin variable number tandem repeat polymorphisms and severity of cystic fibrosis lung disease: significant association with MUC5AC.

Guo X, Pace RG, Stonebraker JR, Commander CW, Dang AT, Drumm ML, Harris A, Zou F, Swallow DM, Wright FA, O'Neal WK, Knowles MR.

PLoS One. 2011;6(10):e25452. doi: 10.1371/journal.pone.0025452. Epub 2011 Oct 6.

15.

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.

Am J Kidney Dis. 2018 Apr;71(4):495-500. doi: 10.1053/j.ajkd.2017.08.024. Epub 2017 Dec 6.

PMID:
29217307
16.

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.

Proteomics. 2018 Apr;18(7):e1700456. doi: 10.1002/pmic.201700456. Epub 2018 Mar 13.

PMID:
29436780
18.

The polymorphism in MUC1 gene in Nelore cattle.

de Souza FR, Dentillo DB, Meola J, Biase FH, Andréa MV, Vozzi PA, Lôbo RB, Martelli LR.

J Anim Breed Genet. 2007 Feb;124(1):42-6.

PMID:
17302961
19.

Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families.

Stavrou C, Koptides M, Tombazos C, Psara E, Patsias C, Zouvani I, Kyriacou K, Hildebrandt F, Christofides T, Pierides A, Deltas CC.

Kidney Int. 2002 Oct;62(4):1385-94. Erratum in: Kidney Int 2002 Nov;62(5):1920..

20.

Further evidence for linkage of autosomal-dominant medullary cystic kidney disease on chromosome 1q21.

Auranen M, Ala-Mello S, Turunen JA, Järvelä I.

Kidney Int. 2001 Oct;60(4):1225-32.

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