-
1
-
-
0036914069
-
Mutations of the uromodulin gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy
-
HART TC, GORRY MC, HART PS, et al: Mutations of the uromodulin gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. J Med Genet 39:882-892, 2002
-
(2002)
J Med Genet
, vol.39
, pp. 882-892
-
-
Hart, T.C.1
Gorry, M.C.2
Hart, P.S.3
-
2
-
-
0037341801
-
Uromodulin mutations cause familial juvenile hyperuricemic nephropathy
-
TURNER JJ, STACEY JM, HARDING B, et al: Uromodulin mutations cause familial juvenile hyperuricemic nephropathy. J Clin Endocrinol Metab 88:1398-1401, 2003
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 1398-1401
-
-
Turner, J.J.1
Stacey, J.M.2
Harding, B.3
-
3
-
-
0242639932
-
Renal manifestations of a mutation in the uromodulin (Tamm Horsfall Protein) gene
-
BLEYER AJ, TRACHTMAN H, SANDHU J, et al: Renal manifestations of a mutation in the uromodulin (Tamm Horsfall Protein) gene. Am J Kidney Dis 42:E20-E26, 2003
-
(2003)
Am J Kidney Dis
, vol.42
-
-
Bleyer, A.J.1
Trachtman, H.2
Sandhu, J.3
-
4
-
-
10744226387
-
A cluster of mutations in the uromodulin gene cause familial juvenile hyperuricemic nephropathy with abnormal excretion of uromodulin
-
DAHAN K, DEVUYST O, SMAERS M, et al: A cluster of mutations in the uromodulin gene cause familial juvenile hyperuricemic nephropathy with abnormal excretion of uromodulin. J Am Soc Nephrol 14:2883-2893, 2003
-
(2003)
J Am Soc Nephrol
, vol.14
, pp. 2883-2893
-
-
Dahan, K.1
Devuyst, O.2
Smaers, M.3
-
5
-
-
10744224657
-
Mutations of the uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes 3 EGF-like domains
-
WOLF MT, MUCHA BE, ATTANSIO M, et al: Mutations of the uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes 3 EGF-like domains. Kidney Int 64:1580-1587, 2003
-
(2003)
Kidney Int
, vol.64
, pp. 1580-1587
-
-
Wolf, M.T.1
Mucha, B.E.2
Attansio, M.3
-
7
-
-
0021719032
-
Excretion of Tamm-Horsfall glycoprotein in renal disease
-
LYNN KL, MARSHALL RD: Excretion of Tamm-Horsfall glycoprotein in renal disease. Clin Nephrol 22:253-257, 1984
-
(1984)
Clin Nephrol
, vol.22
, pp. 253-257
-
-
Lynn, K.L.1
Marshall, R.D.2
-
8
-
-
0020422693
-
An improved radioimmunoassay for urinary Tamm-Horsfall glycoprotein
-
DAWNAY AB, THORNLEY C, CATTELL WR: An improved radioimmunoassay for urinary Tamm-Horsfall glycoprotein. Biochem J 206:461-465, 1982
-
(1982)
Biochem J
, vol.206
, pp. 461-465
-
-
Dawnay, A.B.1
Thornley, C.2
Cattell, W.R.3
-
9
-
-
0021911580
-
Human Tamm-Horsfall glycoprotein: Urinary and plasma levels in normal subjects and patients with renal disease determined by a fully validated radioimmunoassay
-
THORNLEY C, DAWNAY A, CATTELL WR: Human Tamm-Horsfall glycoprotein: Urinary and plasma levels in normal subjects and patients with renal disease determined by a fully validated radioimmunoassay. Clin Sci 68:529-535, 1985
-
(1985)
Clin Sci
, vol.68
, pp. 529-535
-
-
Thornley, C.1
Dawnay, A.2
Cattell, W.R.3
-
10
-
-
0021140474
-
Variations of urinary Tamm-Horsfall protein in humans during the first thirty years of life
-
OLLIER-HARTMANN MP, POUGET-ABADIE C, BOUILLIE J, HARTMANN L: Variations of urinary Tamm-Horsfall protein in humans during the first thirty years of life. Nephron 38:163-166, 1984
-
(1984)
Nephron
, vol.38
, pp. 163-166
-
-
Ollier-Hartmann, M.P.1
Pouget-Abadie, C.2
Bouillie, J.3
Hartmann, L.4
-
11
-
-
78651023652
-
Characterization and separation of an inhibitor of viral hemagglutination present in urine
-
TAMM I, HORSFALL FL: Characterization and separation of an inhibitor of viral hemagglutination present in urine. Proc Soc Exp Biol Med 74:108-114, 1950
-
(1950)
Proc Soc Exp Biol Med
, vol.74
, pp. 108-114
-
-
Tamm, I.1
Horsfall, F.L.2
-
12
-
-
0023113789
-
Identification of human uromodulin as the Tamm-Horsfall urinary glycoprotein
-
PENNICA D, KOHR WJ, KUANG W, et al: Identification of human uromodulin as the Tamm-Horsfall urinary glycoprotein. Science 236:83-88, 1987
-
(1987)
Science
, vol.236
, pp. 83-88
-
-
Pennica, D.1
Kohr, W.J.2
Kuang, W.3
-
14
-
-
0018865050
-
Use of 3,5-dichloro-2-hydroxybenzenesulfonic acid/4 aminophenazone chromogenic system in direct enzymic assay of uric acid in serum and urine
-
FOSSATI P, PRENCIPE L, BERTI G: Use of 3,5-dichloro-2- hydroxybenzenesulfonic acid/4 aminophenazone chromogenic system in direct enzymic assay of uric acid in serum and urine. Clin Chem 26:227-231, 1980
-
(1980)
Clin Chem
, vol.26
, pp. 227-231
-
-
Fossati, P.1
Prencipe, L.2
Berti, G.3
-
15
-
-
0026571598
-
Inhibition of calcium oxalate crystal growth in vitro by uropontin: Another member of the aspartic acid-rich protein superfamily
-
SHIRAGA H, MIN W, VANDUSEN WJ, et al: Inhibition of calcium oxalate crystal growth in vitro by uropontin: Another member of the aspartic acid-rich protein superfamily. Proc Natl Acad Sci USA 89:426-430, 1992
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 426-430
-
-
Shiraga, H.1
Min, W.2
VanDusen, W.J.3
-
16
-
-
0031912669
-
Quantitative studies of human urinary excretion of uropontin
-
MIN W, SHIRAGA H, CHALKO C, et al: Quantitative studies of human urinary excretion of uropontin. Kidney Int 53:189-193, 1998
-
(1998)
Kidney Int
, vol.53
, pp. 189-193
-
-
Min, W.1
Shiraga, H.2
Chalko, C.3
-
17
-
-
0016230478
-
Ontogeny of Tamm-Horsfall urinary glycoprotein
-
HOYER JR, RESNICK JS, MICHAEL AF, VERNIER RL: Ontogeny of Tamm-Horsfall urinary glycoprotein. Lab Invest 30:757-761, 1974
-
(1974)
Lab Invest
, vol.30
, pp. 757-761
-
-
Hoyer, J.R.1
Resnick, J.S.2
Michael, A.F.3
Vernier, R.L.4
-
18
-
-
12444304213
-
Clinical characterization of a family with a mutation in the uromodulin (Tamm-Horsfall glycoprotein) gene
-
BLEYER AJ, WOODARD AS, SHIHABI Z, et al: Clinical characterization of a family with a mutation in the uromodulin (Tamm-Horsfall glycoprotein) gene. Kidney Int 64:36-42, 2003
-
(2003)
Kidney Int
, vol.64
, pp. 36-42
-
-
Bleyer, A.J.1
Woodard, A.S.2
Shihabi, Z.3
-
19
-
-
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 12:3369-3384, 2003
-
(2003)
Hum Mol Genet
, vol.12
, pp. 3369-3384
-
-
Rampoldi, L.1
Caridi, G.2
Santon, D.3
-
20
-
-
0025353820
-
Tamm-Horsfall protein - Uromodulin (1950-1990)
-
KUMAR S, MUCHMORE A: Tamm-Horsfall protein - Uromodulin (1950-1990). Kidney Int 37:1395-1401, 1990
-
(1990)
Kidney Int
, vol.37
, pp. 1395-1401
-
-
Kumar, S.1
Muchmore, A.2
-
21
-
-
0030724926
-
Intracellular transport, cell-surface exposure and release of recombinant Tamm-Horsfall glycoprotein
-
MALAGOLINI N, CAVALLONE D, SERAFINI-CESSI F: Intracellular transport, cell-surface exposure and release of recombinant Tamm-Horsfall glycoprotein. Kidney Int 52:1340-1350, 1997
-
(1997)
Kidney Int
, vol.52
, pp. 1340-1350
-
-
Malagolini, N.1
Cavallone, D.2
Serafini-Cessi, F.3
-
22
-
-
0037154221
-
Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer
-
SCOTT SP, BENDIX R, CHEN P, et al: Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer. Proc Natl Acad Sci USA 99:925-930, 2002
-
(2002)
Proc Natl Acad Sci USA
, vol.99
, pp. 925-930
-
-
Scott, S.P.1
Bendix, R.2
Chen, P.3
-
23
-
-
0036679151
-
Pseudoachondroplasia is caused through both intra- and extracellular pathogenic pathways
-
DINSER R, ZAUCKE F, KREPPEL F, et al: Pseudoachondroplasia is caused through both intra- and extracellular pathogenic pathways. J Clin Invest 4:505-513, 2002
-
(2002)
J Clin Invest
, vol.4
, pp. 505-513
-
-
Dinser, R.1
Zaucke, F.2
Kreppel, F.3
-
24
-
-
0037018773
-
Endoplasmic reticulum storage diseases
-
RUTISHAUSER J. SPIESS M: Endoplasmic reticulum storage diseases. Swiss Med Wkly 132:211-222, 2002
-
(2002)
Swiss Med Wkly
, vol.132
, pp. 211-222
-
-
Rutishauser, J.1
Spiess, M.2
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