Production and characterization of transgenic mice harboring mutant human UMOD gene

Nucleosides, Nucleotides and Nucleic Acids

Volumn 27, Issue 6-7, 2008, Pages 596-600

  Takiue, Yuichi ^a   Hosoyamada, Makoto ^a   Yokoo, Takuya ^a   Kimura, Masaki ^a   Ochiai, Manami ^b   Kaneko, Kiyoko ^b   Ichida, Kimiyoshi ^c   Hosoya, Tatsuo ^c   Shibasaki, Toshiaki ^a,c  

^a KEIO UNIVERSITY   (Japan)

^b TEIKYO UNIVERSITY   (Japan)

^c JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Creatinine clearance; Familial juvenile hyperuricemic nephropathy; LC MS MS; Transgenic mice; Uromodulin

Indexed keywords

COMPLEMENTARY DNA; TAMM HORSFALL GLYCOPROTEIN;

ANIMAL TISSUE; CONFERENCE PAPER; CONTROLLED STUDY; CREATININE CLEARANCE; FAMILIAL DISEASE; HUMAN; LIQUID CHROMATOGRAPHY; MASS SPECTROMETRY; MOUSE; NONHUMAN; URIC ACID NEPHROPATHY; URINARY EXCRETION; WESTERN BLOTTING;

ANIMALS; CREATININE; DISEASE MODELS, ANIMAL; HUMANS; HYPERURICEMIA; KIDNEY; MICE; MICE, TRANSGENIC; MUCOPROTEINS; MUTATION;

ANIMALIA; MUS MUSCULUS;

EID: 46749135161     PISSN: 15257770     EISSN: 15322335     Source Type: Journal    
DOI: 10.1080/15257770802136065     Document Type: Conference Paper

References (12)

1. Cameron, J.S.; Simmonds, H.A. Hereditary hyperuricemia and renal disease. Semin. Nephrol. 2005, 25, 9-18.
2. Bleyer, A.J.; Woodard, A.S.; Shihabi, Z.; Sandhu, J.; Zhu, H.; Satko, S.G.; Weller, N.; Deterding, E.; McBride, D.; Gorry, M.C.; Xu, L.; Ganier, D.; Hart, T.C. Clinical characterization of a family with a mutation in the uromodulin (Tamm-Horsfall glycoprotein) gene. Kidney Int. 2003, 64, 36-42.
3. Hart, T.C.; Gorry, M.C.; Hart, P.S.; Woodard, A.S.; Shihabi, Z.; Sandhu, J.; Shirts, B.; Xu, L.; Zhu, H.; Barmada, M.M.; Bleyer, A.J. Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. J. Med. Genet. 2002, 39, 882-892.
4. Kumar, S.; Muchmore, A. Tamm-Horsfall protein - Uromodulin (1950 - 1990). Kidney Int., 1990, 37, 1395-1401.
5. Bleyer, A.J.; Hart, T.C.; Shihabi, Z.; Robins, V.; Hoyer, J.R. Mutations in the uromodulin gene decrease urinary excretion of Tamm-Horsfall protein. Kidney Int., 2004, 66, 974-977.
6. Dahan, K.; Devuyst, O.; Smaers, M.; Vertommen, D.; Loute, G.; Poux, J.M.; Viron, B.; Jacquot, C.; Gagnadoux, M.F.; Chauveau, D.; Buchler, M.; Cochat, P.; Cosyns, J.P.; Mougenot, B.; Rider, M.H.; Antignac, C.; Verellen-Dumoulin, C.; Pirson, Y. A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin. J. Am. Soc. Nephrol. 2003, 14, 2883-2893.
7. Devuyst, O.; Dahan, K.; Pirson, Y. Tamm-Horsfall protein or uromodulin: new ideas about an old molecule. Nephrol. Dial. Transplant 2005, 20, 1290-1294.
8. Scolari, F.; Caridi, G.; Rampoldi, L.; Tardanico, R.; Izzi, C.; Pirulli, D.; Amoroso, A.; Casari, G.; Ghiggeri, G.M. Uromodulin storage diseases: clinical aspects and mechanisms. Am. J. Kidney Dis. 2004, 44, 987-999.
9. Hosoyamada, M.; Yan, K.; Nishibori, Y.; Takiue, Y.; Kudo, A.; Kawakami, H.; Shibasaki, T.; Endou, H. Nephrin and podocin expression around the onset of puromycin aminonucleoside nephrosis. J. Pharmacol. Sci. 2005, 97, 234-241.
10. Shevchenko, A.; Wilm, M.; Vorm, O. Mann M. Mass spectrometric sequencing of proteins silverstained polyacrylamide gels. Anal. Chem. 1996, 68, 850-858.
11. Bleasby, A.J.; Akrigg, D.; Attwood, T.K. OWL - A non-redundant composite protein sequence database. Nucleic Acids Res. 1994, 22, 3574-3577.
12. Rampoldi, L.; Caridi, G.; Santon, D.; Boaretto, F.; Bernascone, I.; Lamorte, G.; Tardanico, R.; Dagnino, M.; Colussi, G.; Scolari, F.; Ghiggeri, G.M.; Amoroso, A.; Casari, G. Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics. Hum. Mol. Genet. 2003, 12, 3369-3384.