메뉴 건너뛰기




Volumn 64, Issue 6, 1999, Pages 1655-1660

Identification of a new locus for medullary cystic disease, on chromosome 16p12

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOMAL LOCALIZATION; CHROMOSOME 1; CHROMOSOME 16P; CLINICAL ARTICLE; CLINICAL FEATURE; FEMALE; GENETIC HETEROGENEITY; GENETIC LINKAGE; HUMAN; MALE; MEDULLARY SPONGE KIDNEY; NEPHROLITHIASIS; PEDIGREE; PRIORITY JOURNAL; SCHOOL CHILD;

EID: 0033358592     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302414     Document Type: Article
Times cited : (98)

References (29)
  • 1
    • 0017250942 scopus 로고
    • Morphology of the ascending thick limb of Henle
    • Allen F, Tischer CC (1976) Morphology of the ascending thick limb of Henle. Kidney Int 9:8-22
    • (1976) Kidney Int , vol.9 , pp. 8-22
    • Allen, F.1    Tischer, C.C.2
  • 2
    • 0027454556 scopus 로고
    • A family of human phosphodiesterases homologous to the dunce learning and memory gene product of Drosophila melanogaster are potential targets for antidepressant drugs
    • Bolger G, Michaeli T, Martins T, St. John T, Steiner B, Rodgers L, Riggs M, et al (1993) A family of human phosphodiesterases homologous to the dunce learning and memory gene product of Drosophila melanogaster are potential targets for antidepressant drugs. Mol Cell Biol 13:6558-6571
    • (1993) Mol Cell Biol , vol.13 , pp. 6558-6571
    • Bolger, G.1    Michaeli, T.2    Martins, T.3    St. John, T.4    Steiner, B.5    Rodgers, L.6    Riggs, M.7
  • 5
    • 13344259999 scopus 로고    scopus 로고
    • A comprehensive genetic map of the human genome based on 5,264 microsatellites
    • Dib C, Fauré S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, et al (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
    • (1996) Nature , vol.380 , pp. 152-154
    • Dib, C.1    Fauré, S.2    Fizames, C.3    Samson, D.4    Drouot, N.5    Vignal, A.6    Millasseau, P.7
  • 6
    • 0026335993 scopus 로고
    • Cloning of a leucine-zipper protein recognized by the sera of patients with antibody-associated parancoplastic cerebellar degeneration
    • Fathallah Shaykh H, Wolf S, Wong E, Posner JB, Furneaux HM (1991) Cloning of a leucine-zipper protein recognized by the sera of patients with antibody-associated parancoplastic cerebellar degeneration. Proc Natl Acad Sci USA 88:3451-3454
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 3451-3454
    • Fathallah Shaykh, H.1    Wolf, S.2    Wong, E.3    Posner, J.B.4    Furneaux, H.M.5
  • 8
    • 0014984851 scopus 로고
    • Evolution of clinical signs in adult-onset cystic disease of the renal medulla
    • Gardner KD Jr (1971) Evolution of clinical signs in adult-onset cystic disease of the renal medulla. Ann Intern Med 74:47-54
    • (1971) Ann Intern Med , vol.74 , pp. 47-54
    • Gardner K.D., Jr.1
  • 11
    • 0026615931 scopus 로고
    • The nephronophthisis complex: Clinical and genetic aspects
    • Hildebrandt F, Waldherr R, Kutt R, Brandis M (1992) The nephronophthisis complex: clinical and genetic aspects. Clin Invest 70:802-808
    • (1992) Clin Invest , vol.70 , pp. 802-808
    • Hildebrandt, F.1    Waldherr, R.2    Kutt, R.3    Brandis, M.4
  • 12
    • 0024328023 scopus 로고
    • Complementary DNA encoding core protein 11 of human mitochondrial cytochrome bc1 complex: Substantial diversity in deduced primary structure from its yeast counterpart
    • Hosokawa Y, Suzuki H, Toda H, Nishikimi M, Ozawa T (1989) Complementary DNA encoding core protein 11 of human mitochondrial cytochrome bc1 complex: substantial diversity in deduced primary structure from its yeast counterpart. J Biol Chem 264:13483-13488
    • (1989) J Biol Chem , vol.264 , pp. 13483-13488
    • Hosokawa, Y.1    Suzuki, H.2    Toda, H.3    Nishikimi, M.4    Ozawa, T.5
  • 13
    • 0026705371 scopus 로고
    • mu-crystallin is a mammalian homologue of agrobacterium ornithine cyclodeaminase and is expressed in human retina
    • Kim RY, Gasser R, Wistow GJ (1992) mu-crystallin is a mammalian homologue of agrobacterium ornithine cyclodeaminase and is expressed in human retina. Proc Natl Acad Sci USA 89:9292-9296
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 9292-9296
    • Kim, R.Y.1    Gasser, R.2    Wistow, G.J.3
  • 15
    • 0016593318 scopus 로고
    • Chronic interstitial nephritis: Etiologic factors
    • Murray T, Goldberg M (1975) Chronic interstitial nephritis: etiologic factors. Ann Intern Med 82:453
    • (1975) Ann Intern Med , vol.82 , pp. 453
    • Murray, T.1    Goldberg, M.2
  • 18
    • 0027739344 scopus 로고
    • Localization of the Tamm-Horsfall glycoprotein (uromodulin) gene to chromosome 16p12.3-16p13.11
    • Pook MA, Jeremiah S, Scheinman SJ, Povey S, Thakker RV (1993) Localization of the Tamm-Horsfall glycoprotein (uromodulin) gene to chromosome 16p12.3-16p13.11. Ann Hum Genet 57:285-290
    • (1993) Ann Hum Genet , vol.57 , pp. 285-290
    • Pook, M.A.1    Jeremiah, S.2    Scheinman, S.J.3    Povey, S.4    Thakker, R.V.5
  • 19
    • 0018104474 scopus 로고
    • Tamm-Horsfall protein abnormal localization in renal disease
    • Resnick JS, Sisson S, Vernier RL (1978) Tamm-Horsfall protein abnormal localization in renal disease. Lab Invest 38:550-555
    • (1978) Lab Invest , vol.38 , pp. 550-555
    • Resnick, J.S.1    Sisson, S.2    Vernier, R.L.3
  • 21
    • 9844224478 scopus 로고    scopus 로고
    • A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis
    • Saunier S, Calado J, Heilig R, Silbermann F, Benessy F, Morin G, Konrad M, et al (1997) A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis. Hum Mol Genet 6:2317-2323
    • (1997) Hum Mol Genet , vol.6 , pp. 2317-2323
    • Saunier, S.1    Calado, J.2    Heilig, R.3    Silbermann, F.4    Benessy, F.5    Morin, G.6    Konrad, M.7
  • 22
    • 7344268573 scopus 로고    scopus 로고
    • Autosomal dominant medullary cystic disease: A disorder with variable clinical pictures and absence of linkage with the NPH1 locus
    • Scolari F, Ghiggeri GM, Casari G, Amoroso A, Puzzer D, Caridi G, Valzorio B, et al (1998) Autosomal dominant medullary cystic disease: a disorder with variable clinical pictures and absence of linkage with the NPH1 locus, Nephrol Dial Transplant 13:2536-2546
    • (1998) Nephrol Dial Transplant , vol.13 , pp. 2536-2546
    • Scolari, F.1    Ghiggeri, G.M.2    Casari, G.3    Amoroso, A.4    Puzzer, D.5    Caridi, G.6    Valzorio, B.7
  • 23
    • 0027946089 scopus 로고
    • Liddle's syndrome: Heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel
    • Shimkets RA, Warnock DG, Bositis CM, Nelson-Williams C, Hansson JH, Schambelan M, Gill JRJ, et al (1994) Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel. Cell 79:407-414.
    • (1994) Cell , vol.79 , pp. 407-414
    • Shimkets, R.A.1    Warnock, D.G.2    Bositis, C.M.3    Nelson-Williams, C.4    Hansson, J.H.5    Schambelan, M.6    Gill, J.R.J.7
  • 24
    • 0018733601 scopus 로고
    • Co-localization by immunofluorescence and by light- and electron-microscopic immunoperoxidase techniques of Tamm-Horsfall glycoprotein in adult hamster kidney
    • Sikri KL, Foster CL, Bloomfield FJ, Marshall RD (1978) Co-localization by immunofluorescence and by light- and electron-microscopic immunoperoxidase techniques of Tamm- Horsfall glycoprotein in adult hamster kidney. Biochem J 181:525-532
    • (1978) Biochem J , vol.181 , pp. 525-532
    • Sikri, K.L.1    Foster, C.L.2    Bloomfield, F.J.3    Marshall, R.D.4
  • 25
    • 0031105760 scopus 로고    scopus 로고
    • Human glutamate pyruvate transaminase (GPT): Localization to 8q24.3, cDNA and genomic sequences, and polymorphic sites
    • Sohocki MM, Sullivan LS, Harrison WR, Sodergren EJ, Elder FF, Weinstock G, Tanase S, et al (1997) Human glutamate pyruvate transaminase (GPT): localization to 8q24.3, cDNA and genomic sequences, and polymorphic sites. Genomics 40:247-252
    • (1997) Genomics , vol.40 , pp. 247-252
    • Sohocki, M.M.1    Sullivan, L.S.2    Harrison, W.R.3    Sodergren, E.J.4    Elder, F.F.5    Weinstock, G.6    Tanase, S.7
  • 26
    • 0032079701 scopus 로고    scopus 로고
    • Medullary cystic kidney disease with hyperuricemia and gout in a large Cypriot family: No allelism with nephronophthisis type 1
    • Stavrou C, Pierides A, Zouvani I, Kyriacou K, Antignac C, Neophytou P, Christodoulou K, et al (1998) Medullary cystic kidney disease with hyperuricemia and gout in a large Cypriot family: no allelism with nephronophthisis type 1, Am J Med Genet 77:149-154
    • (1998) Am J Med Genet , vol.77 , pp. 149-154
    • Stavrou, C.1    Pierides, A.2    Zouvani, I.3    Kyriacou, K.4    Antignac, C.5    Neophytou, P.6    Christodoulou, K.7
  • 27
    • 0029097865 scopus 로고
    • Cloning, chromosomal localization, and physical linkage of the beta and gamma subunits (SCNN1B and SCNN1G) of the human epithelial amiloride-sensitive sodium channel
    • Voilley N, Bassilana F, Mignon C, Merscher S, Mattei MG, Carle GF, Lazdunski M, et al (1995) Cloning, chromosomal localization, and physical linkage of the beta and gamma subunits (SCNN1B and SCNN1G) of the human epithelial amiloride-sensitive sodium channel. Genomics 28:560-565
    • (1995) Genomics , vol.28 , pp. 560-565
    • Voilley, N.1    Bassilana, F.2    Mignon, C.3    Merscher, S.4    Mattei, M.G.5    Carle, G.F.6    Lazdunski, M.7
  • 28
    • 0000801438 scopus 로고
    • SLINK: A general simulation program for linkage analysis
    • Weeks DE, Ott J, Larhrop GM (1990) SLINK: a general simulation program for linkage analysis. Am J Hum Genet Suppl 47:A204
    • (1990) Am J Hum Genet , Issue.SUPPL. 47
    • Weeks, D.E.1    Ott, J.2    Larhrop, G.M.3
  • 29
    • 0017819924 scopus 로고
    • Pathologic localization of Tamm-Horsfall protein in interstitial deposit in renal disease
    • Zanger RA, Cotran RS, Hoyer JR (1978) Pathologic localization of Tamm-Horsfall protein in interstitial deposit in renal disease. Lab Invest 38:52-57
    • (1978) Lab Invest , vol.38 , pp. 52-57
    • Zanger, R.A.1    Cotran, R.S.2    Hoyer, J.R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.