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Items: 1 to 20 of 102

1.

Biallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease Recognition.

Knaup KX, Hackenbeck T, Popp B, Stoeckert J, Wenzel A, Büttner-Herold M, Pfister F, Schueler M, Seven D, May AM, Halbritter J, Gröne HJ, Reis A, Beck BB, Amann K, Ekici AB, Wiesener MS.

J Am Soc Nephrol. 2018 Sep;29(9):2298-2309. doi: 10.1681/ASN.2018030245. Epub 2018 Jul 26.

2.

Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.

Živná M, Kidd K, Přistoupilová A, Barešová V, DeFelice M, Blumenstiel B, Harden M, Conlon P, Lavin P, Connaughton DM, Hartmannová H, Hodaňová K, Stránecký V, Vrbacká A, Vyleťal P, Živný J, Votruba M, Sovová J, Hůlková H, Robins V, Perry R, Wenzel A, Beck BB, Seeman T, Viklický O, Rajnochová-Bloudíčková S, Papagregoriou G, Deltas CC, Alper SL, Greka A, Bleyer AJ, Kmoch S.

J Am Soc Nephrol. 2018 Sep;29(9):2418-2431. doi: 10.1681/ASN.2018020180. Epub 2018 Jul 2.

3.

Autosomal Dominant Tubulointerstitial Kidney Disease: Clinical Presentation of Patients With ADTKD-UMOD and ADTKD-MUC1.

Ayasreh N, Bullich G, Miquel R, Furlano M, Ruiz P, Lorente L, Valero O, García-González MA, Arhda N, Garin I, Martínez V, Pérez-Gómez V, Fulladosa X, Arroyo D, Martínez-Vea A, Espinosa M, Ballarín J, Ars E, Torra R.

Am J Kidney Dis. 2018 Sep;72(3):411-418. doi: 10.1053/j.ajkd.2018.03.019. Epub 2018 May 18.

PMID:
29784615
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.

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
6.

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.

7.

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
8.

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
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.

Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease.

Gast C, Marinaki A, Arenas-Hernandez M, Campbell S, Seaby EG, Pengelly RJ, Gale DP, Connor TM, Bunyan DJ, Hodaňová K, Živná M, Kmoch S, Ennis S, Venkat-Raman G.

BMC Nephrol. 2018 Oct 30;19(1):301. doi: 10.1186/s12882-018-1107-y.

11.

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.

12.

Autosomal dominant tubulointerstitial kidney disease: of names and genes.

Bleyer AJ, Kmoch S.

Kidney Int. 2014 Sep;86(3):459-61. doi: 10.1038/ki.2014.125.

13.

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.

14.

Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease.

Cornec-Le Gall E, Olson RJ, Besse W, Heyer CM, Gainullin VG, Smith JM, Audrézet MP, Hopp K, Porath B, Shi B, Baheti S, Senum SR, Arroyo J, Madsen CD, Férec C, Joly D, Jouret F, Fikri-Benbrahim O, Charasse C, Coulibaly JM, Yu AS, Khalili K, Pei Y, Somlo S, Le Meur Y, Torres VE; Genkyst Study Group; HALT Progression of Polycystic Kidney Disease Group; Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease, Harris PC.

Am J Hum Genet. 2018 May 3;102(5):832-844. doi: 10.1016/j.ajhg.2018.03.013. Epub 2018 Apr 26.

15.

Autosomal Dominant Tubulointerstitial Kidney Disease.

Bleyer AJ, Kidd K, Živná M, Kmoch S.

Adv Chronic Kidney Dis. 2017 Mar;24(2):86-93. doi: 10.1053/j.ackd.2016.11.012. Review.

16.

Identification of a novel UMOD mutation (c.163G>A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease.

Lopes LB, Abreu CC, Souza CF, Guimaraes LER, Silva AA, Aguiar-Alves F, Kidd KO, Kmoch S, Bleyer AJ, Almeida JR.

Braz J Med Biol Res. 2018 Mar 1;51(3):e6560. doi: 10.1590/1414-431X20176560.

17.

A novel uromodulin mutation in autosomal dominant tubulointerstitial kidney disease: a pedigree-based study and literature review.

Lin Z, Yang J, Liu H, Cai D, An Z, Yu Y, Chen T.

Ren Fail. 2018 Nov;40(1):146-151. doi: 10.1080/0886022X.2018.1450757. Review.

18.

Autosomal Dominant Tubulointerstitial Kidney Disease, MUC1-Related.

Bleyer AJ, Kmoch S.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2013 Aug 15 [updated 2016 Jun 30].

19.

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.

20.

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.

Bolar NA, Golzio C, Živná M, Hayot G, Van Hemelrijk C, Schepers D, Vandeweyer G, Hoischen A, Huyghe JR, Raes A, Matthys E, Sys E, Azou M, Gubler MC, Praet M, Van Camp G, McFadden K, Pediaditakis I, Přistoupilová A, Hodaňová K, Vyleťal P, Hartmannová H, Stránecký V, Hůlková H, Barešová V, Jedličková I, Sovová J, Hnízda A, Kidd K, Bleyer AJ, Spong RS, Vande Walle J, Mortier G, Brunner H, Van Laer L, Kmoch S, Katsanis N, Loeys BL.

Am J Hum Genet. 2016 Jul 7;99(1):174-87. doi: 10.1016/j.ajhg.2016.05.028.

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