PMC Links for OMIM (Select 191845) - PMC - NCBI

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Items: 8

Select item 32568851.

Molecular and Cellular Effects of Tamm-Horsfall Protein Mutations and Their Rescue by Chemical Chaperones

Lijie Ma, Yan Liu, Tarek M. El-Achkar, Xue-Ru Wu

J Biol Chem. 2012 Jan 6; 287(2): 1290–1305. Published online 2011 Nov 23. doi: 10.1074/jbc.M111.283036

PMCID:: PMC3256885

Abstract Article PDF–4.8M

Select item 28608932.

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

Abstract Article PDF–432K

Select item 27147243.

Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum

Siân E. Williams, Anita A.C. Reed, Juris Galvanovskis, Corinne Antignac, Tim Goodship, Fiona E. Karet, Peter Kotanko, Karl Lhotta, Vincent Morinière, Paul Williams, William Wong, Patrik Rorsman, Rajesh V. Thakker

Hum Mol Genet. 2009 Aug 15; 18(16): 2963–2974. Published online 2009 May 22. doi: 10.1093/hmg/ddp235

PMCID:: PMC2714724

Abstract Article PDF–437K

Select item 22120534.

A MUCOPROTEIN DERIVED FROM HUMAN URINE WHICH REACTS WITH INFLUENZA, MUMPS, AND NEWCASTLE DISEASE VIRUSES

Igor Tamm, Frank L. Horsfall, Jr.

J Exp Med. 1952 Jan 1; 95(1): 71–97. doi: 10.1084/jem.95.1.71

PMCID:: PMC2212053

Summary PDF–1.4M

Select item 17572065.

Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy

T Hart, M Gorry, P Hart, A Woodard, Z Shihabi, J Sandhu, B Shirts, L Xu, H Zhu, M Barmada, A Bleyer

J Med Genet. 2002 Dec; 39(12): 882–892. doi: 10.1136/jmg.39.12.882

PMCID:: PMC1757206

Summary PDF–597K

Select item 13780486.

Familial juvenile hyperuricemic nephropathy: localization of the gene on chromosome 16p11.2-and evidence for genetic heterogeneity.

B Stibůrková, J Majewski, I Sebesta, W Zhang, J Ott, S Kmoch

Am J Hum Genet. 2000 Jun; 66(6): 1989–1994. Published online 2000 Apr 25. doi: 10.1086/302936

PMCID:: PMC1378048

Summary PDF–201K

Select item 13779087.

Identification of a new locus for medullary cystic disease, on chromosome 16p12.

F Scolari, D Puzzer, A Amoroso, G Caridi, G M Ghiggeri, R Maiorca, P Aridon, M De Fusco, A Ballabio, G Casari

Am J Hum Genet. 1999 Jun; 64(6): 1655–1660. doi: 10.1086/302414

PMCID:: PMC1377908

Summary PDF–204K

Select item 4740808.

Immunofluorescent localization of Tamm-Horsfall mucoprotein in human kidney

J. K. McKenzie, E. G. McQueen

J Clin Pathol. 1969 May; 22(3): 334–339. doi: 10.1136/jcp.22.3.334

PMCID:: PMC474080

Summary Page Browse PDF–2.7M

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