-
1
-
-
0036914069
-
Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy
-
Hart T.C., Gorry M.C., Hart P.S., et al. Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. J Med Genet 39 (2002) 882-892
-
(2002)
J Med Genet
, vol.39
, pp. 882-892
-
-
Hart, T.C.1
Gorry, M.C.2
Hart, P.S.3
-
2
-
-
0034805901
-
Mechanism of release of urinary Tamm-Horsfall glycoprotein from the kidney GPI-anchored counterpart
-
Cavallone D., Malagolini N., and Serafini-Cessi F. Mechanism of release of urinary Tamm-Horsfall glycoprotein from the kidney GPI-anchored counterpart. Biochem Biophys Res Commun 280 (2001) 110-114
-
(2001)
Biochem Biophys Res Commun
, vol.280
, pp. 110-114
-
-
Cavallone, D.1
Malagolini, N.2
Serafini-Cessi, F.3
-
3
-
-
0034034916
-
Tamm-Horsfall protein updated
-
Kokot F., and Duława J. Tamm-Horsfall protein updated. Nephron 85 (2000) 97-102
-
(2000)
Nephron
, vol.85
, pp. 97-102
-
-
Kokot, F.1
Duława, J.2
-
4
-
-
0346752171
-
Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics
-
Rampoldi L., Caridi G., Santon D., et al. Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics. Hum Mol Genet 12 (2003) 3369-3384
-
(2003)
Hum Mol Genet
, vol.12
, pp. 3369-3384
-
-
Rampoldi, L.1
Caridi, G.2
Santon, D.3
-
5
-
-
26044445786
-
Tamm-Horsfall protein or uromodulin: New ideas about an old molecule
-
Devuyst O., Dahan K., and Pirson Y. Tamm-Horsfall protein or uromodulin: New ideas about an old molecule. Nephrol Dial Transplant 20 (2005) 1290-1294
-
(2005)
Nephrol Dial Transplant
, vol.20
, pp. 1290-1294
-
-
Devuyst, O.1
Dahan, K.2
Pirson, Y.3
-
6
-
-
0034763887
-
Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2: Two facets of the same disease?
-
Dahan K., Fuchshuber A., Adamis S., et al. Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2: Two facets of the same disease?. J Am Soc Nephrol 12 (2001) 2348-2357
-
(2001)
J Am Soc Nephrol
, vol.12
, pp. 2348-2357
-
-
Dahan, K.1
Fuchshuber, A.2
Adamis, S.3
-
7
-
-
0033358592
-
Identification of a new locus for medullary cystic disease, on chromosome 16p12
-
Scolari F., Puzzer D., Amoroso A., et al. Identification of a new locus for medullary cystic disease, on chromosome 16p12. Am J Hum Genet 64 (1999) 1655-1660
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1655-1660
-
-
Scolari, F.1
Puzzer, D.2
Amoroso, A.3
-
8
-
-
0037301206
-
Familial juvenile hyperuricaemic nephropathy (FJHN): Linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes
-
Stibůrková B., Majewski J., Hodanová K., et al. Familial juvenile hyperuricaemic nephropathy (FJHN): Linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes. Eur J Hum Genet 11 (2003) 145-154
-
(2003)
Eur J Hum Genet
, vol.11
, pp. 145-154
-
-
Stibůrková, B.1
Majewski, J.2
Hodanová, K.3
-
9
-
-
10744226387
-
A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin
-
Dahan K., Devuyst O., Smaers M., et al. A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin. J Am Soc Nephrol 14 (2003) 2883-2893
-
(2003)
J Am Soc Nephrol
, vol.14
, pp. 2883-2893
-
-
Dahan, K.1
Devuyst, O.2
Smaers, M.3
-
10
-
-
0037341801
-
Uromodulin mutations cause familial juvenile hyperuricemic nephropathy
-
Turner J.J., Stacey J.M., Harding B., et al. Uromodulin mutations cause familial juvenile hyperuricemic nephropathy. J Clin Endocrinol Metab 88 (2003) 1398-1401
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 1398-1401
-
-
Turner, J.J.1
Stacey, J.M.2
Harding, B.3
-
11
-
-
26444591591
-
A novel heterozygous missense mutation in the UMOD gene responsible for familial juvenile hyperuricemic nephropathy
-
Calado J., Gaspar A., Clemente C., and Rueff J. A novel heterozygous missense mutation in the UMOD gene responsible for familial juvenile hyperuricemic nephropathy. BMC Med Genet 6 (2005) 5-8
-
(2005)
BMC Med Genet
, vol.6
, pp. 5-8
-
-
Calado, J.1
Gaspar, A.2
Clemente, C.3
Rueff, J.4
-
12
-
-
33947128725
-
The uromodulin C744G mutation causes MCKD2 and FJHN in children and adults and may be due to a possible founder effect
-
Wolf M.T., Beck B.B., Zaucke F., et al. The uromodulin C744G mutation causes MCKD2 and FJHN in children and adults and may be due to a possible founder effect. Kidney Int 71 (2007) 574-581
-
(2007)
Kidney Int
, vol.71
, pp. 574-581
-
-
Wolf, M.T.1
Beck, B.B.2
Zaucke, F.3
-
13
-
-
42749083339
-
Urinary uromodulin carries an intact ZP domain generated by a conserved C-terminal proteolytic cleavage
-
Santambrogio S., Cattaneo A., Bernascone I., et al. Urinary uromodulin carries an intact ZP domain generated by a conserved C-terminal proteolytic cleavage. Biochem Biophys Res Commun 370 (2008) 410-413
-
(2008)
Biochem Biophys Res Commun
, vol.370
, pp. 410-413
-
-
Santambrogio, S.1
Cattaneo, A.2
Bernascone, I.3
-
14
-
-
33749532096
-
Defective intracellular trafficking of uromodulin mutant isoforms
-
Bernascone I., Vavassori S., Di Pentima A., et al. Defective intracellular trafficking of uromodulin mutant isoforms. Traffic 7 (2006) 1567-1579
-
(2006)
Traffic
, vol.7
, pp. 1567-1579
-
-
Bernascone, I.1
Vavassori, S.2
Di Pentima, A.3
-
15
-
-
33846021647
-
Membrane targeting and secretion of mutant uromodulin in familial juvenile hyperuricemic nephropathy
-
Jennings P., Aydin S., Kotanko P., et al. Membrane targeting and secretion of mutant uromodulin in familial juvenile hyperuricemic nephropathy. J Am Soc Nephrol 18 (2007) 264-273
-
(2007)
J Am Soc Nephrol
, vol.18
, pp. 264-273
-
-
Jennings, P.1
Aydin, S.2
Kotanko, P.3
-
16
-
-
33748413779
-
Alterations of uromodulin biology: A common denominator of the genetically heterogeneous FJHN/MCKD syndrome
-
Vylet'al P., Kublova M., Kalbacova M., et al. Alterations of uromodulin biology: A common denominator of the genetically heterogeneous FJHN/MCKD syndrome. Kidney Int 70 (2006) 1155-1169
-
(2006)
Kidney Int
, vol.70
, pp. 1155-1169
-
-
Vylet'al, P.1
Kublova, M.2
Kalbacova, M.3
-
17
-
-
0029590072
-
Pax2 controls multiple steps of urogenital development
-
Torres M., Gomez-Pardo E., Dressler G., and Gross P. Pax2 controls multiple steps of urogenital development. Development 121 (1995) 4057-4065
-
(1995)
Development
, vol.121
, pp. 4057-4065
-
-
Torres, M.1
Gomez-Pardo, E.2
Dressler, G.3
Gross, P.4
-
18
-
-
0036219713
-
Genes and proteins in renal development
-
Davies J.A., and Fisher C.E. Genes and proteins in renal development. Exp Nephrol 10 (2002) 102-113
-
(2002)
Exp Nephrol
, vol.10
, pp. 102-113
-
-
Davies, J.A.1
Fisher, C.E.2
-
19
-
-
2342508500
-
A transcriptional network in polycystic kidney disease
-
Gresh L., Fischer E., Reimann A., et al. A transcriptional network in polycystic kidney disease. EMBO J 23 (2004) 1657-1668
-
(2004)
EMBO J
, vol.23
, pp. 1657-1668
-
-
Gresh, L.1
Fischer, E.2
Reimann, A.3
-
20
-
-
0035166810
-
Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease
-
Bingham C., Bulman M.P., Ellard S., et al. Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease. Am J Hum Genet 68 (2001) 219-224
-
(2001)
Am J Hum Genet
, vol.68
, pp. 219-224
-
-
Bingham, C.1
Bulman, M.P.2
Ellard, S.3
-
21
-
-
0142010689
-
Crucial roles of Brn1 in distal tubule formation and function in mouse kidney
-
Nakai S., Sugitani Y., Sato H., et al. Crucial roles of Brn1 in distal tubule formation and function in mouse kidney. Development 130 (2003) 4751-4759
-
(2003)
Development
, vol.130
, pp. 4751-4759
-
-
Nakai, S.1
Sugitani, Y.2
Sato, H.3
|