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Items: 1 to 20 of 88

1.
Mutations causing medullary cystic kidney disease type 1 (MCKD1) lie in a large VNTR in MUC1 missed by massively parallel sequencing
Andrew Kirby, Andreas Gnirke, David B. Jaffe, Veronika Barešová, Nathalie Pochet, Brendan Blumenstiel, Chun Ye, Daniel Aird, Christine Stevens, James T. Robinson, Moran N. Cabili, Irit Gat-Viks, Edward Kelliher, Riza Daza, Matthew DeFelice, Helena Hulková, Jana Sovová, Petr Vylet’al, Corinne Antignac, Mitchell Guttman, Robert E. Handsaker, Danielle Perrin, Scott Steelman, Snaevar Sigurdsson, Steven J. Scheinman, Carrie Sougnez, Kristian Cibulskis, Melissa Parkin, Todd Green, Elizabeth Rossin, Michael C. Zody, Ramnik J. Xavier, Martin R. Pollak, Seth L. Alper, Kerstin Lindblad-Toh, Stacey Gabriel, P. Suzanne Hart, Aviv Regev, Chad Nusbaum, Stanislav Kmoch, Anthony J. Bleyer, Eric S. Lander, Mark J. Daly
Nat Genet. Author manuscript; available in PMC 2014 Jan 24.
Published in final edited form as: Nat Genet. 2013 Mar; 45(3): 299–303. Published online 2013 Feb 10. doi: 10.1038/ng.2543
PMCID:
PMC3901305
AbstractArticlePDF–677K
2.
Variable Clinical Presentation of an MUC1 Mutation Causing Medullary Cystic Kidney Disease Type 1
Anthony J. Bleyer, Stanislav Kmoch, Corinne Antignac, Vicki Robins, Kendrah Kidd, John R. Kelsoe, Gerald Hladik, Philip Klemmer, Stephen J. Knohl, Steven J. Scheinman, Nam Vo, Ann Santi, Alese Harris, Omar Canaday, Nelson Weller, Peter J. Hulick, Kristen Vogel, Frederick F. Rahbari-Oskoui, Jennifer Tuazon, Constantinos Deltas, Douglas Somers, Andre Megarbane, Paul L. Kimmel, C. John Sperati, Avi Orr-Urtreger, Shay Ben-Shachar, David A. Waugh, Stella McGinn, Anthony J. Bleyer, Jr., Kateřina Hodaňová, Petr Vylet'al, Martina Živná, Thomas C. Hart, P. Suzanne Hart
Clin J Am Soc Nephrol. 2014 Mar 7; 9(3): 527–535. Published online 2014 Feb 7. doi: 10.2215/CJN.06380613
PMCID:
PMC3944763
AbstractArticle
3.
Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations
Andrea Wenzel, Janine Altmueller, Arif B. Ekici, Bernt Popp, Kurt Stueber, Holger Thiele, Alois Pannes, Simon Staubach, Eduardo Salido, Peter Nuernberg, Richard Reinhardt, André Reis, Patrick Rump, Franz-Georg Hanisch, Matthias T. F. Wolf, Michael Wiesener, Bruno Huettel, Bodo B. Beck
Sci Rep. 2018; 8: 4170. Published online 2018 Mar 8. doi: 10.1038/s41598-018-22428-0
PMCID:
PMC5843638
AbstractArticlePDF–3.0M
4.
Compound Fault Feature Extraction of Rolling Bearing Acoustic Signals Based on AVMD-IMVO-MCKD
Shishuai Wu, Jun Zhou, Tao Liu
Sensors (Basel) 2022 Sep; 22(18): 6769. Published online 2022 Sep 7. doi: 10.3390/s22186769
PMCID:
PMC9502951
AbstractArticlePDF–11M
5.
SMRT sequencing revealed to be an effective method for ADTKD-MUC1 diagnosis through follow-up analysis of a Chinese family
Guo-qin Wang, Hong-liang Rui, Hong-rui Dong, Li-jun Sun, Min Yang, Yan-yan Wang, Nan Ye, Zhi-rui Zhao, Xue-jiao Liu, Xiao-yi Xu, Yi-pu Chen, Hong Cheng
Sci Rep. 2020; 10: 8616. Published online 2020 May 25. doi: 10.1038/s41598-020-65491-2
PMCID:
PMC7248079
AbstractArticlePDF–4.6M
6.
Cultural adaptation and validation of the Malay Chronic Kidney Disease Self-management instrument (MCKD-SM)
Ayat Ali Al Sawad, Soo Kun Lim, Li Yoong Tang, Aneesa Abdul Rashid, Boon-How Chew
BMC Nephrol. 2022; 23: 384. Published online 2022 Dec 1. doi: 10.1186/s12882-022-03016-x
PMCID:
PMC9716702
AbstractArticlePDF–1.3M
7.
Biallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease Recognition
Karl X. Knaup, Thomas Hackenbeck, Bernt Popp, Johanna Stoeckert, Andrea Wenzel, Maike Büttner-Herold, Frederick Pfister, Markus Schueler, Didem Seven, Annette M. May, Jan Halbritter, Hermann-Josef Gröne, André Reis, Bodo B. Beck, Kerstin Amann, Arif B. Ekici, Michael S. Wiesener
J Am Soc Nephrol. 2018 Sep; 29(9): 2298–2309. Published online 2018 Jul 26. doi: 10.1681/ASN.2018030245
PMCID:
PMC6115663
AbstractArticle
8.
Autosomal Dominant Tubulointerstitial Kidney Disease: More than Just HNF1β
Anthony J. Bleyer, Matthias Wolf, Kendrah O. Kidd, Martina Zivna, Stanislav Kmoch
Pediatr Nephrol. Author manuscript; available in PMC 2023 May 1.
Published in final edited form as: Pediatr Nephrol. 2022 May; 37(5): 933–946. Published online 2021 May 22. doi: 10.1007/s00467-021-05118-4
PMCID:
PMC8722360
AbstractArticlePDF–917K
9.
Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations
Petr Vylet'al, Kendrah Kidd, Hannah C. Ainsworth, Drahomíra Springer, Alena Vrbacká, Anna Přistoupilová, Rebecca P. Hughey, Seth L. Alper, Niall Lennon, Steven Harrison, Maegan Harden, Victoria Robins, Abbigail Taylor, Lauren Martin, Katrice Howard, Ibrahim Bitar, Carl D. Langefeld, Veronika Barešová, Hana Hartmannová, Kateřina Hodaňová, Tomáš Zima, Martina Živná, Stanislav Kmoch, Anthony J. Bleyer
Am J Nephrol. 2021 Jul; 52(5): 378–387. Published online 2021 Jun 7. doi: 10.1159/000515810
PMCID:
PMC8315672
AbstractArticle
10.
Autosomal dominant tubulointerstitial kidney disease: A review
Martina Živná, Kendrah O. Kidd, Veronika Barešová, Helena Hůlková, Stanislav Kmoch, Anthony J. Bleyer, Sr
Am J Med Genet C Semin Med Genet. 2022 Sep; 190(3): 309–324. Published online 2022 Oct 17. doi: 10.1002/ajmg.c.32008
PMCID:
PMC9619361
AbstractArticlePDF–3.1M
11.
Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study
Bernt Popp, Arif B. Ekici, Karl X. Knaup, Karen Schneider, Steffen Uebe, Jonghun Park, Vineet Bafna, Heike Meiselbach, Kai-Uwe Eckardt, Mario Schiffer, André Reis, Cornelia Kraus, Michael Wiesener
Eur J Hum Genet. 2022 Dec; 30(12): 1413–1422. Published online 2022 Sep 13. doi: 10.1038/s41431-022-01177-9
PMCID:
PMC9712573
AbstractArticlePDF–2.8M
12.
Phenotype and Outcome in Hereditary Tubulointerstitial Nephritis Secondary to UMOD Mutations
Guillaume Bollée, Karin Dahan, Martin Flamant, Vincent Morinière, Audrey Pawtowski, Laurence Heidet, Didier Lacombe, Olivier Devuyst, Yves Pirson, Corinne Antignac, Bertrand Knebelmann
Clin J Am Soc Nephrol. 2011 Oct; 6(10): 2429–2438. doi: 10.2215/CJN.01220211
PMCID:
PMC3359549
AbstractArticle
13.
Influence of glycoprotein MUC1 on trafficking of the Ca2+-selective ion channels, TRPV5 and TRPV6, and on in vivo calcium homeostasis
Mohammad M. Al-bataineh, Carol L. Kinlough, Allison Marciszyn, Tracey Lam, Lorena Ye, Kendrah Kidd, Joseph C. Maggiore, Paul A. Poland, Stanislav Kmoch, Anthony Bleyer, Daniel J. Bain, Nicolas Montalbetti, Thomas R. Kleyman, Rebecca P. Hughey, Evan C. Ray
J Biol Chem. 2023 Mar; 299(3): 102925. Published online 2023 Jan 20. doi: 10.1016/j.jbc.2023.102925
PMCID:
PMC9996365
AbstractArticlePDF–1.3M
14.
Tamm-Horsfall Glycoprotein Interacts with Renal Outer Medullary Potassium Channel ROMK2 and Regulates Its Function
Aparna Renigunta, Vijay Renigunta, Turgay Saritas, Niels Decher, Kerim Mutig, Siegfried Waldegger
J Biol Chem. 2011 Jan 21; 286(3): 2224–2235. Published online 2010 Nov 16. doi: 10.1074/jbc.M110.149880
PMCID:
PMC3023518
AbstractArticlePDF–2.4M
15.
Hypoxia controls expression of kidney-pathogenic MUC1 variants
Stephanie Naas, René Krüger, Karl Xaver Knaup, Julia Naas, Steffen Grampp, Mario Schiffer, Michael Wiesener, Johannes Schödel
Life Sci Alliance. 2023 Sep; 6(9): e202302078. Published online 2023 Jun 14. doi: 10.26508/lsa.202302078
PMCID:
PMC10267510
AbstractArticlePDF–2.0M
16.
Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression
Frank Zaucke, Joana M. Boehnlein, Sarah Steffens, Roman S. Polishchuk, Luca Rampoldi, Andreas Fischer, Andreas Pasch, Christoph W. A. Boehm, Anne Baasner, Massimo Attanasio, Bernd Hoppe, Helmut Hopfer, Bodo B. Beck, John A. Sayer, Friedhelm Hildebrandt, Matthias T. F. Wolf
Hum Mol Genet. 2010 May 15; 19(10): 1985–1997. Published online 2010 Feb 18. doi: 10.1093/hmg/ddq077
PMCID:
PMC2860893
AbstractArticlePDF–432K
17.
Autosomal Dominant Tubulo-Interstitial Kidney Disease
Anthony J. Bleyer, Kendrah Kidd, Martina Živná, Stanislav Kmoch
Adv Chronic Kidney Dis. Author manuscript; available in PMC 2018 Mar 1.
Published in final edited form as: Adv Chronic Kidney Dis. 2017 Mar; 24(2): 86–93. doi: 10.1053/j.ackd.2016.11.012
PMCID:
PMC5488707
AbstractArticlePDF–88K
18.
Genetic Testing of the mucin 1 gene-Variable Number Tandem Repeat Single Cytosine Insertion Mutation in a Chinese Family with Medullary Cystic Kidney Disease
Nuo Si, Ke Zheng, Jie Ma, Xiao-Lu Meng, Xue-Mei Li, Xue Zhang
Chin Med J (Engl) 2017 Oct 20; 130(20): 2459–2464. doi: 10.4103/0366-6999.216408
PMCID:
PMC5684639
AbstractArticlePDF–1.1M
19.
Novel roles for mucin 1 in the kidney
Mohammad Al-bataineh, Timothy A. Sutton, Rebecca P Hughey
Curr Opin Nephrol Hypertens. Author manuscript; available in PMC 2018 Sep 1.
Published in final edited form as: Curr Opin Nephrol Hypertens. 2017 Sep; 26(5): 384–391. doi: 10.1097/MNH.0000000000000350
PMCID:
PMC5786376
AbstractArticlePDF–630K
20.
Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease
Martina Živná, Kendrah Kidd, Anna Přistoupilová, Veronika Barešová, Mathew DeFelice, Brendan Blumenstiel, Maegan Harden, Peter Conlon, Peter Lavin, Dervla M. Connaughton, Hana Hartmannová, Kateřina Hodaňová, Viktor Stránecký, Alena Vrbacká, Petr Vyleťal, Jan Živný, Miroslav Votruba, Jana Sovová, Helena Hůlková, Victoria Robins, Rebecca Perry, Andrea Wenzel, Bodo B. Beck, Tomáš Seeman, Ondřej Viklický, Sylvie Rajnochová-Bloudíčková, Gregory Papagregoriou, Constantinos C. Deltas, Seth L. Alper, Anna Greka, Anthony J. Bleyer, Stanislav Kmoch
J Am Soc Nephrol. 2018 Sep; 29(9): 2418–2431. Published online 2018 Jul 2. doi: 10.1681/ASN.2018020180
Correction in:
J Am Soc Nephrol. 2020 Apr; 31(4): 892.
PMCID:
PMC6115665
AbstractArticle

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