| 1 | FJHN, UMOD
|
| Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum.
|
| Williams SE, Reed AA, Galvanovskis J, Antignac C, Goodship T, Karet FE, Kotanko P, Lhotta K, Morinière V, Williams P, Wong W, Rorsman P, Thakker RV.
|
| Hum Mol Genet 18(16):2963-74. Epub 2009 May 22.PMID: 19465746 2009
|
| 2 | FJHN, MCKD2, UMOD
|
| The Uromodulin C744G mutation causes MCKD2 and FJHN in children and adults and may be due to a possible founder effect.
|
| Wolf MT, Beck BB, Zaucke F, Kunze A, Misselwitz J, Ruley J, Ronda T, Fischer A, Eifinger F, Licht C, Otto E, Hoppe B, Hildebrandt F.
|
| Kidney Int 71(6):574-81. Epub 2007 Jan 24.
2007
|
| 3 | FJHN, UMOD
|
| Familial nephropathy associated with hyperuricemia in Spain: our experience with 3 families harbouring a UMOD mutation.
|
| Puig JG, Prior C, MartÃnez-Ara J, Torres RJ.
|
| Nucleosides Nucleotides Nucleic Acids 25(9-11):1295-300.
2006
|
| 4 | MCKD2, UMOD, FJHN
|
| Homozygosity for uromodulin disorders: FJHN and MCKD-type 2.
|
| Rezende-Lima W, Parreira KS, Garcia-Gonzalez M, Riveira E, Banet JF, Lens XM.
|
| Kidney Int 66(2):558-63. 2004
|
| 5 | OIT3, UMOD, FJHN, GP2
|
| Identification and characterization of D8C, a novel domain present in liver-specific LZP, uromodulin and glycoprotein 2, mutated in familial juvenile hyperuricaemic nephropathy.
|
| Yang H, Wu C, Zhao S, Guo J.
|
| FEBS Lett 578(3):236-8. 2004
|
| 6 | FJHN
|
| Genetic mapping studies of familial juvenile hyperuricemic nephropathy on chromosome 16p11-p13.
|
| Stacey JM, Turner JJ, Harding B, Nesbit MA, Kotanko P, Lhotta K, Puig JG, Torres RJ, Thakker RV.
|
| J Clin Endocrinol Metab 88(1):464-70. 2003
|
| 7 | FJHN, MCKD2, UMOD
|
| Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.
|
| Hart TC, Gorry MC, Hart PS, Woodard AS, Shihabi Z, Sandhu J, Shirts B, Xu L, Zhu H, Barmada MM, Bleyer AJ.
|
| J Med Genet 39(12):882-92. 2002
|
| 8 | FJHN
|
| Familial Juvenile Hyperuricemic Nephropathy: Localization of the Gene on Chromosome 16p11.2-and Evidence for Genetic Heterogeneity.
|
| Stiburkova B, Majewski J, Sebesta I, Zhang W, Ott J, Kmoch S.
|
| Am J Hum Genet 66(6):1989-1994. 2000
|
| 9 | FJHN
|
| Localization of a gene for familial juvenile hyperuricemic nephropathy causing underexcretion-type gout to 16p12 by genome-wide linkage analysis of a large family.
|
| Kamatani N, Moritani M, Yamanaka H, Takeuchi F, Hosoya T, Itakura M.
|
| Arthritis Rheum 43(4):925-9. 2000
|