-
1
-
-
0012158673
-
-
OMIM™. Johns Hopkins University, Baltimore, MD. MIM Number: {MIM 603860}: {6/1/1999}
-
Online Mendelian Inheritance in Man, OMIM™. Johns Hopkins University, Baltimore, MD. MIM Number: {MIM 603860}: {6/1/1999}. World Wide Web URL :http://www.ncbi.nlm.nih.gov/Omim/
-
-
-
-
2
-
-
0012121661
-
-
OMIM™. Johns Hopkins University, Baltimore, MD. MIM Number: {MIM 162000}: {3/10/1998}
-
Online Mendelian Inheritance in Man, OMIM™. Johns Hopkins University, Baltimore, MD. MIM Number: {MIM 162000}: {3/10/1998}. World Wide Web URL :http://www.ncbi.nlm.nih.gov/Omim/
-
-
-
-
3
-
-
0018053235
-
Familial occurrence of hyperuricemia, gout, and medullary cystic disease
-
Thompson GR, Weiss JJ, Goldman RT, Rigg GA. Familial occurrence of hyperuricemia, gout, and medullary cystic disease. Arch Intern Med 1978;138:1614-17.
-
(1978)
Arch Intern Med
, vol.138
, pp. 1614-1617
-
-
Thompson, G.R.1
Weiss, J.J.2
Goldman, R.T.3
Rigg, G.A.4
-
4
-
-
84942946004
-
Familial hyperuricemia and renal disease
-
Massari PU, Hsu CH, Barnes RV, Fox IH, Gikas PW, Weller JM. Familial hyperuricemia and renal disease. Arch Intern Med 1980;140:680-4.
-
(1980)
Arch Intern Med
, vol.140
, pp. 680-684
-
-
Massari, P.U.1
Hsu, C.H.2
Barnes, R.V.3
Fox, I.H.4
Gikas, P.W.5
Weller, J.M.6
-
5
-
-
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, Smaers M, Kroiss S, Loute G, Cosyns JP, Hildebrandt F, Verellen-Dumoulin C, Pirson Y. Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2. Two facets of the same disease? J Am Soc Nephrol 2001;12:2348-57.
-
(2001)
J Am Soc Nephrol
, vol.12
, pp. 2348-2357
-
-
Dahan, K.1
Fuchshuber, A.2
Adamis, S.3
Smaers, M.4
Kroiss, S.5
Loute, G.6
Cosyns, J.P.7
Hildebrandt, F.8
Verellen-Dumoulin, C.9
Pirson, Y.10
-
6
-
-
0034786059
-
Confirmation of a gene locus for medullary cystic kidney disease (MCKD2) on chromosome 16p12
-
Hateboer N, Gumbs C, Teare MD, Coles GA, Griffiths D, Ravine D, Futreal P, Rahman N. Confirmation of a gene locus for medullary cystic kidney disease (MCKD2) on chromosome 16p12. Kidney Int 2001;60:1233-9.
-
(2001)
Kidney Int
, vol.60
, pp. 1233-1239
-
-
Hateboer, N.1
Gumbs, C.2
Teare, M.D.3
Coles, G.A.4
Griffiths, D.5
Ravine, D.6
Futreal, P.7
Rahman, N.8
-
7
-
-
0033358592
-
Identification of a new locus for medullary cystic disease, on chromosome 16p12
-
Scolari F, Puzzer D, Amoroso A, Caridi G, Ghiggeri GM, Maiorca R, Aridon P, De Fusco M, Ballabio A, Casari G. Identification of a new locus for medullary cystic disease, on chromosome 16p12. Am J Hum Genet 1999;64:1655-60.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1655-1660
-
-
Scolari, F.1
Puzzer, D.2
Amoroso, A.3
Caridi, G.4
Ghiggeri, G.M.5
Maiorca, R.6
Aridon, P.7
De Fusco, M.8
Ballabio, A.9
Casari, G.10
-
8
-
-
0033850904
-
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. Localization of a gene for familial juvenile hyperuricemic nephropathy causing underexcretion-type gout to 16p12 by genome-wide linkage analysis of a large family. Arthritis Rheum 2000;43:925-9.
-
(2000)
Arthritis Rheum
, vol.43
, pp. 925-929
-
-
Kamatani, N.1
Moritani, M.2
Yamanaka, H.3
Takeuchi, F.4
Hosoya, T.5
Itakura, M.6
-
9
-
-
0033928339
-
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. Familial juvenile hyperuricemic nephropathy: Localization of the gene on chromosome 16p11.2-and evidence for genetic heterogeneity. Am J Hum Genet 2000;66:1989-94.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 1989-1994
-
-
Stiburkova, B.1
Majewski, J.2
Sebesta, I.3
Zhang, W.4
Ott, J.5
Kmoch, S.6
-
10
-
-
0017819924
-
Pathologic localization of Tamm-Horsfall protein in interstitial deposits in renal disease
-
Zager RA, Cotran RS, Hoyer JR. Pathologic localization of Tamm-Horsfall protein in interstitial deposits in renal disease. Lab Invest 1978;38:52-7.
-
(1978)
Lab Invest
, vol.38
, pp. 52-57
-
-
Zager, R.A.1
Cotran, R.S.2
Hoyer, J.R.3
-
11
-
-
0027411474
-
Gout, uric acid and purine metabolism in pediatric nephrology
-
Cameron JS, Moro F, Simmonds HA. Gout, uric acid and purine metabolism in pediatric nephrology. Pediatr Nephrol 1993;7:105-18.
-
(1993)
Pediatr Nephrol
, vol.7
, pp. 105-118
-
-
Cameron, J.S.1
Moro, F.2
Simmonds, H.A.3
-
12
-
-
78651023652
-
Characterisation and separation of an inhibitor of viral hemagglutination present in the urine
-
Tamm I, Horsfall FL. Characterisation and separation of an inhibitor of viral hemagglutination present in the urine. Proc Soc Exp Biol Med 1950;74:108-14.
-
(1950)
Proc Soc Exp Biol Med
, vol.74
, pp. 108-114
-
-
Tamm, I.1
Horsfall, F.L.2
-
13
-
-
0022413812
-
Uromodulin: A unique 85-kilodalton immunosuppressive glycoprotein isolated from urine of pregnant women
-
Muchmore AV, Decker JM. Uromodulin: A unique 85-kilodalton immunosuppressive glycoprotein isolated from urine of pregnant women. Science 1985;8:479-81.
-
(1985)
Science
, vol.8
, pp. 479-481
-
-
Muchmore, A.V.1
Decker, J.M.2
-
14
-
-
0018361250
-
Tamm-Horsfall glycoprotein: Ultrastructural immunoperoxidase localization in rat kidney
-
Hoyer JR, Sisson SP, Vernier RL. Tamm-Horsfall glycoprotein: Ultrastructural immunoperoxidase localization in rat kidney. Lab Invest 1979;41:168-73.
-
(1979)
Lab Invest
, vol.41
, pp. 168-173
-
-
Hoyer, J.R.1
Sisson, S.P.2
Vernier, R.L.3
-
15
-
-
0018104474
-
Tamm-Horsfall protein: Abnormal localization in renal disease
-
Resnick JS, Sisson S, Vernier RL. Tamm-Horsfall protein: Abnormal localization in renal disease. Lab Invest 1978;38:550-5.
-
(1978)
Lab Invest
, vol.38
, pp. 550-555
-
-
Resnick, J.S.1
Sisson, S.2
Vernier, R.L.3
-
16
-
-
0023895601
-
The lectin-like interaction between recombinant tumor necrosis factor and uromodulin
-
Sherblom AP, Decker JM, Muchmore AV. The lectin-like interaction between recombinant tumor necrosis factor and uromodulin. J Biol Chem 1988;263:5418-24.
-
(1988)
J Biol Chem
, vol.263
, pp. 5418-5424
-
-
Sherblom, A.P.1
Decker, J.M.2
Muchmore, A.V.3
-
17
-
-
0023259013
-
Uromodulin (Tamm-Horsfall glycoprotein): A renal ligand for lymphokines
-
Hessian C, Decker JM, Sherblom AP, Kumar S, Yue CC, Mattalilano RJ, Kawashima F, Schmeissner U, Heletky S, Chow EP, Burne CA, Show A, Muchmore V. Uromodulin (Tamm-Horsfall glycoprotein): A renal ligand for lymphokines. Science 1987;237:1479-84.
-
(1987)
Science
, vol.237
, pp. 1479-1484
-
-
Hession, C.1
Decker, J.M.2
Sherblom, A.P.3
Kumar, S.4
Yue, C.C.5
Mattalilano, R.J.6
Kawashima, F.7
Schmeissner, U.8
Heletky, S.9
Chow, E.P.10
Burne, C.A.11
Show, A.12
Muchmore, V.13
-
18
-
-
0023940041
-
Tamm-Horsfall glycoprotein interferes with bacterial adherence to human kidney cells
-
Dulawa J, Rambausek M, Jann K, Ritz E. Tamm-Horsfall glycoprotein interferes with bacterial adherence to human kidney cells. Eur J Clin Invest 1988;18:87-92.
-
(1988)
Eur J Clin Invest
, vol.18
, pp. 87-92
-
-
Dulawa, J.1
Rambausek, M.2
Jann, K.3
Ritz, E.4
-
19
-
-
0035216109
-
Effects of Tamm-Horsfall protein and albumin on the inhibition of free radicals
-
Chen WC, Lin HS, Tsai FJ, Li CW. Effects of Tamm-Horsfall protein and albumin on the inhibition of free radicals. Urol Int 2001;67:305-9.
-
(2001)
Urol Int
, vol.67
, pp. 305-309
-
-
Chen, W.C.1
Lin, H.S.2
Tsai, F.J.3
Li, C.W.4
-
20
-
-
0035081342
-
Effects of Tamm-Horsfall protein and albumin on calcium oxalate crystallization and importance of sialic acids
-
Chen WC, Lin HS, Chen HY, Shih CH, Li CW. Effects of Tamm-Horsfall protein and albumin on calcium oxalate crystallization and importance of sialic acids. Mol Urol 2001;5:1-5.
-
(2001)
Mol Urol
, vol.5
, pp. 1-5
-
-
Chen, W.C.1
Lin, H.S.2
Chen, H.Y.3
Shih, C.H.4
Li, C.W.5
-
21
-
-
0036258374
-
Vitamin A excreted in the urine of canines is associated with a Tamm-Horsfall like protein
-
Schweigert FJ, Raila J, Haebel S. Vitamin A excreted in the urine of canines is associated with a Tamm-Horsfall like protein. Vet Res 2002;33:299-311.
-
(2002)
Vet Res
, vol.33
, pp. 299-311
-
-
Schweigert, F.J.1
Raila, J.2
Haebel, S.3
-
23
-
-
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 1980;26:227-31.
-
(1980)
Clin Chem
, vol.26
, pp. 227-231
-
-
Fossati, P.1
Prencipe, L.2
Berti, G.3
-
24
-
-
0016916438
-
Prediction of creatinine clearance from serum creatinine
-
Cockroft DW, Gault MH. Prediction of creatinine clearance from serum creatinine. Nephron 1976;16:31-41.
-
(1976)
Nephron
, vol.16
, pp. 31-41
-
-
Cockroft, D.W.1
Gault, M.H.2
-
25
-
-
0029943501
-
Abnormal serum uric acid levels in children
-
Wilcox WD. Abnormal serum uric acid levels in children. J Pediatr 1996;128:731-41.
-
(1996)
J Pediatr
, vol.128
, pp. 731-741
-
-
Wilcox, W.D.1
-
26
-
-
50549196311
-
The distribution of serum uric acid values in a population unselected as to gout or hyperuricemia
-
Mikkelsen WM, Dodge HJ, Valkenburg H. The distribution of serum uric acid values in a population unselected as to gout or hyperuricemia. Am J Med 1965;39:242-51.
-
(1965)
Am J Med
, vol.39
, pp. 242-251
-
-
Mikkelsen, W.M.1
Dodge, H.J.2
Valkenburg, H.3
-
27
-
-
0016409329
-
Intrinsic renal disease leading to abnormal urate excretion
-
Rieselbach RE, Steele TH. Intrinsic renal disease leading to abnormal urate excretion. Nephron 1975;14:81-7.
-
(1975)
Nephron
, vol.14
, pp. 81-87
-
-
Rieselbach, R.E.1
Steele, T.H.2
-
28
-
-
0036201303
-
A mutation in the SOS1 gene causes hereditary gingival fibromatosis type i
-
Hart TC, Zhang Y, Gorry MC, Hart PS, Cooper M, Marrazita ML, Marks JM, Cortelli JR, Pallos D. A mutation in the SOS1 gene causes hereditary gingival fibromatosis type i. Am J Hum Genet 2002;70:943-54.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 943-954
-
-
Hart, T.C.1
Zhang, Y.2
Gorry, M.C.3
Hart, P.S.4
Cooper, M.5
Marrazita, M.L.6
Marks, J.M.7
Cortelli, J.R.8
Pallos, D.9
-
29
-
-
0028790963
-
The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recoding and fuzzy inheritance
-
O'Connell JR, Weeks DE. The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recoding and fuzzy inheritance. Nat Genet 1995;11:402-8.
-
(1995)
Nat Genet
, vol.11
, pp. 402-408
-
-
O'Connell, J.R.1
Weeks, D.E.2
-
30
-
-
0036282562
-
Localization, genomic organization, and alternative transcription of a novel human SAM-dependent methyltransferase gene on chromosome 2p22-p21
-
Zhang Y, Gorry MC, Hart PS, Pettenati MJ, Wang L, Marks JJ, Lu L, Hart TC. Localization, genomic organization, and alternative transcription of a novel human SAM-dependent methyltransferase gene on chromosome 2p22-p21. Cytogenet Cell Genet 2001;95:146-52.
-
(2001)
Cytogenet Cell Genet
, vol.95
, pp. 146-152
-
-
Zhang, Y.1
Gorry, M.C.2
Hart, P.S.3
Pettenati, M.J.4
Wang, L.5
Marks, J.J.6
Lu, L.7
Hart, T.C.8
-
31
-
-
0012164906
-
-
for loci shown in table 2 and fig 1 and for genes shown in fig 2
-
Human Genome Project Working Draft at UCSC (http://genome.ucsc.edu/) for loci shown in table 2 and fig 1 and for genes shown in fig 2.
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-
32
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0012121662
-
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BLAST (http://www.ncbi.nlm.nih.gov/blast/).
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-
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-
33
-
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0012121663
-
-
for genes and markers indicated in table 2 and fig 2
-
NCBI Human Genome Sequencing Site (http://www.ncbi.nlm.nih.gov/genome/seq/) for genes and markers indicated in table 2 and fig 2.
-
-
-
-
34
-
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0012159806
-
-
GENEMAP 99 (http://www.ncbi.nlm.nih.gov/genemap/).
-
-
-
-
35
-
-
0033555906
-
Tandem repeats finder: A program to analyze DNA sequences
-
Benson G. Tandem repeats finder: A program to analyze DNA sequences. Nucleic Acids Res 1999;27:573-80.
-
(1999)
Nucleic Acids Res
, vol.27
, pp. 573-580
-
-
Benson, G.1
-
36
-
-
0012121922
-
-
(G Benson, 1999) for the identification of STRP sites seen in table 2 and fig 2
-
Tandem Repeats Finder provided at (http://c3.biomath.mssm.edu/trf.advanced.submit.html) (G Benson, 1999) for the identification of STRP sites seen in table 2 and fig 2.
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-
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37
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0012122664
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for genes shown in fig 2
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Sanger Center's ENSEMBLE database (http://www.ensembl.org/) for genes shown in fig 2.
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38
-
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0012164907
-
-
GENIO/splice (http://genio.informatik.uni-stuttgart.de/GENIO/splice/).
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39
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0012159807
-
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for genes shown in fig 2 - locus ID Nos: XT1 - 64131, COQ7-10229, B/K-51760, G104-162074, GPRC5B-51704, GP2-2813, UMOD-7369, BUCS1-116285
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NCBI Locus Link (http://www.ncbi.nlm.nih.gov/LocusLink/) for genes shown in fig 2 - locus ID Nos: XT1 - 64131, COQ7-10229, B/K-51760, G104-162074, GPRC5B-51704, GP2-2813, UMOD-7369, BUCS1-116285.
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40
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0012158825
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Gene Accession Numbers: XT1-XM_485032, COQ7-NM_016138, B/K-NM_016524, G104-XM_091332, GPRC5B-NM_016235, GP2-NM_001502, UMOD-NM_003361, BUCS1-NM_052956
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NCBI Entrez provided at (http://www.ncbi.nlm.nih.gov/Entrez/) Gene Accession Numbers: XT1-XM_485032, COQ7-NM_016138, B/K-NM_016524, G104-XM_091332, GPRC5B-NM_016235, GP2-NM_001502, UMOD-NM_003361, BUCS1-NM_052956
-
-
-
-
41
-
-
0023113789
-
Identification of human uromodulin as the Tamm-Horsfall urinary glycoprotein
-
Pennica D, Kohr WJ, Kuang WJ, Glaister D, Aggarwal BB, Chen EY, Goeddel DV. Identification of human uromodulin as the Tamm-Horsfall urinary glycoprotein. Science 1987;236:83-8.
-
(1987)
Science
, vol.236
, pp. 83-88
-
-
Pennica, D.1
Kohr, W.J.2
Kuang, W.J.3
Glaister, D.4
Aggarwal, B.B.5
Chen, E.Y.6
Goeddel, D.V.7
-
42
-
-
0031612929
-
Recommendations for a nomenclature system for human gene mutations
-
Antonarakis SE. Recommendations for a nomenclature system for human gene mutations. Hum Mutat 1998;11:1-3.
-
(1998)
Hum Mutat
, vol.11
, pp. 1-3
-
-
Antonarakis, S.E.1
-
43
-
-
0033987736
-
Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
-
Den Dunnen J, Antonarakis S. Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion. Hum Mutat 2000;15:7-12.
-
(2000)
Hum Mutat
, vol.15
, pp. 7-12
-
-
Den Dunnen, J.1
Antonarakis, S.2
-
44
-
-
0035175979
-
Molecular analysis of uromodulin and SAH genes, positional candidates for autosomal dominant medullary cystic kidney disease linked to 16p12
-
Pirulli D, Puzzer D, De Fusco M, Crovella S, Amoroso A, Scolari F, Viola BF, Maiorca R, Caridi G, Savoldi S, Ghiggeri G, Casari G. Molecular analysis of uromodulin and SAH genes, positional candidates for autosomal dominant medullary cystic kidney disease linked to 16p12. J Nephrol 2001;14:392-6.
-
(2001)
J Nephrol
, vol.14
, pp. 392-396
-
-
Pirulli, D.1
Puzzer, D.2
De Fusco, M.3
Crovella, S.4
Amoroso, A.5
Scolari, F.6
Viola, B.F.7
Maiorca, R.8
Caridi, G.9
Savoldi, S.10
Ghiggeri, G.11
Casari, G.12
-
45
-
-
0014870017
-
Tamm-Horsfall urinary glycoprotein: The structure
-
Fletcher AP, Neuberger A, Ratcliff WA. Tamm-Horsfall urinary glycoprotein: The structure. Biochem J 1970;120:425-32.
-
(1970)
Biochem J
, vol.120
, pp. 425-432
-
-
Fletcher, A.P.1
Neuberger, A.2
Ratcliff, W.A.3
-
46
-
-
0036307181
-
The ZP domain is a conserved module for polymerization of extracellular proteins
-
Jovine L, Qi H, Williams Z, Litscher E, Wassarman PM. The ZP domain is a conserved module for polymerization of extracellular proteins. Nat Cell Biol 2002;4:457-61.
-
(2002)
Nat Cell Biol
, vol.4
, pp. 457-461
-
-
Jovine, L.1
Qi, H.2
Williams, Z.3
Litscher, E.4
Wassarman, P.M.5
-
47
-
-
0036905908
-
The impact of R53C mutation on the three-dimensional structure, stability, and DNA-binding properties of the human Hesx-1 homeodomain
-
De La Mata I, Garcia JL, Gonzalez C, Menendez M, Canada J, Jimenez-Barbero J, Asensio JL. The impact of R53C mutation on the three-dimensional structure, stability, and DNA-binding properties of the human Hesx-1 homeodomain. Chem Biochem 2002;3:726-40.
-
(2002)
Chem Biochem
, vol.3
, pp. 726-740
-
-
De La Mata, I.1
Garcia, J.L.2
Gonzalez, C.3
Menendez, M.4
Canada, J.5
Jimenez-Barbero, J.6
Asensio, J.L.7
-
48
-
-
0036301097
-
Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: Search for correlation between phenotype and the functional domains of the MEN1 protein
-
Wautot V, Bercherat C, Lespinasse J, Chambe B, Lenoir GM, Zhang CX, Porchet N, Cordier M, Beroud, Calender A. Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: Search for correlation between phenotype and the functional domains of the MEN1 protein. Hum Mutat 2002;20:35-47.
-
(2002)
Hum Mutat
, vol.20
, pp. 35-47
-
-
Wautot, V.1
Bercherat, C.2
Lespinasse, J.3
Chambe, B.4
Lenoir, G.M.5
Zhang, C.X.6
Porchet, N.7
Cordier, M.8
Beroud9
Calender, A.10
-
49
-
-
0036024994
-
Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies
-
Robinson PN, Booms P, Katzke S, Ladewig M, Neumann L, Palz M, Pregla R, Tiecke F, Rosenberg T. Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies. Hum Mutat 2002;20:153-61.
-
(2002)
Hum Mutat
, vol.20
, pp. 153-161
-
-
Robinson, P.N.1
Booms, P.2
Katzke, S.3
Ladewig, M.4
Neumann, L.5
Palz, M.6
Pregla, R.7
Tiecke, F.8
Rosenberg, T.9
-
50
-
-
0034805122
-
Deletions and duplications of Gly-Xaa-Yaa triplet repeats in the triple helical domains of type 1 collagen chains disrupt helix formation and result in several types of osteogenesis imperfecta
-
Pace JM, Atkinson M, Willing MC, Wallils G, Byers PH. Deletions and duplications of Gly-Xaa-Yaa triplet repeats in the triple helical domains of type 1 collagen chains disrupt helix formation and result in several types of osteogenesis imperfecta. Hum Mutat 2001;18:319-26.
-
(2001)
Hum Mutat
, vol.18
, pp. 319-326
-
-
Pace, J.M.1
Atkinson, M.2
Willing, M.C.3
Wallils, G.4
Byers, P.H.5
-
51
-
-
0035670863
-
Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenital
-
Terrinoni A, Smith FJ, Didona B, Canzona F, Paradisi M, Huber M, Hohl D, David A, Verloes A, Leigh IM, Munro CS, Melino G, McLean WH. Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenital. J Invest Dermatol 2001;117:1391-6.
-
(2001)
J Invest Dermatol
, vol.117
, pp. 1391-1396
-
-
Terrinoni, A.1
Smith, F.J.2
Didona, B.3
Canzona, F.4
Paradisi, M.5
Huber, M.6
Hohl, D.7
David, A.8
Verloes, A.9
Leigh, I.M.10
Munro, C.S.11
Melino, G.12
McLean, W.H.13
-
52
-
-
0032819023
-
Protein misfolding and degradation in genetic diseases
-
Bross P, Corydon TJ, Andresen BS, Jorgensen MM, Bolund L, Gregersen N. Protein misfolding and degradation in genetic diseases. Hum Mutat 1999;14:186-98.
-
(1999)
Hum Mutat
, vol.14
, pp. 186-198
-
-
Bross, P.1
Corydon, T.J.2
Andresen, B.S.3
Jorgensen, M.M.4
Bolund, L.5
Gregersen, N.6
-
53
-
-
0031029279
-
Localization of a single binding site for immunoglobulin light chains on human Tamm-Horsfall glycoprotein
-
Huang ZQ, Sanders PW. Localization of a single binding site for immunoglobulin light chains on human Tamm-Horsfall glycoprotein. J Clin Invest 1997;99:732-6.
-
(1997)
J Clin Invest
, vol.99
, pp. 732-736
-
-
Huang, Z.Q.1
Sanders, P.W.2
-
54
-
-
0024080569
-
Effect of diuretics on the renal handling of urate
-
Kahn AM. Effect of diuretics on the renal handling of urate. Semin Nephrol 1988;8:305-14.
-
(1988)
Semin Nephrol
, vol.8
, pp. 305-314
-
-
Kahn, A.M.1
-
55
-
-
0023200947
-
Medullary cystic disease. An inherited form of autoimmune interstitial nephritis?
-
Kelly CJ, Neilson EG. Medullary cystic disease. An inherited form of autoimmune interstitial nephritis? Am J Kidney Dis 1987;10:389-95.
-
(1987)
Am J Kidney Dis
, vol.10
, pp. 389-395
-
-
Kelly, C.J.1
Neilson, E.G.2
-
56
-
-
0037178265
-
Basal transcription activity of the dyskeratosis congenital gene is mediated by Sp1 and Sp3 and a patient mutation in a SP1 binding site is associated with decreased promoter activity
-
Salowsky R, Heiss NS, Benner A, Wittig R, Poustka A. Basal transcription activity of the dyskeratosis congenital gene is mediated by Sp1 and Sp3 and a patient mutation in a SP1 binding site is associated with decreased promoter activity. Gene 2002;293:9-19.
-
(2002)
Gene
, vol.293
, pp. 9-19
-
-
Salowsky, R.1
Heiss, N.S.2
Benner, A.3
Wittig, R.4
Poustka, A.5
-
57
-
-
0032222905
-
Mutation in the nerve-specific 5'′ non-coding region of Cx32 gene and absence of specific mRNA in a CMTX1 Italian family. Mutations in brief No 195
-
Online
-
Flagiello L, Cirigliano V, Strazzullo M, Cappa V, Ciccodicola A, D'Esposito M, Torrente I, Werner R, Di Iorio G, Rinaldi M, Dallapiccola A, Forabosco A, Ventrto V, D'Urso M. Mutation in the nerve-specific 5'′ non-coding region of Cx32 gene and absence of specific mRNA in a CMTX1 Italian family. Mutations in brief No 195. Online. Hum Mutat 1998;12:361.
-
(1998)
Hum Mutat
, vol.12
, pp. 361
-
-
Flagiello, L.1
Cirigliano, V.2
Strazzullo, M.3
Cappa, V.4
Ciccodicola, A.5
D'Esposito, M.6
Torrente, I.7
Werner, R.8
Di Iorio, G.9
Rinaldi, M.10
Dallapiccola, A.11
Forabosco, A.12
Ventrto, V.13
D'Urso, M.14
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