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Volumn 70, Issue , 2011, Pages 75-83

Hearing loss disorders associated with renal disease

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 4; EYA1 PROTEIN, HUMAN; NUCLEAR PROTEIN; PROTEIN TYROSINE PHOSPHATASE; SIGNAL PEPTIDE;

EID: 79952366272     PISSN: 00653071     EISSN: None     Source Type: Book Series    
DOI: 10.1159/000322478     Document Type: Article
Times cited : (5)

References (65)
  • 1
    • 33646856845 scopus 로고    scopus 로고
    • Molecular basis of human Usher syndrome: Deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease
    • DOI 10.1016/j.exer.2005.11.010, PII S0014483506000686
    • Reiners J, Nagel- Wolfrum K, Jurgens K, Marker T, Wolfrum U: Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease. Exp Eye Res 2006;83:97-119. (Pubitemid 43783252)
    • (2006) Experimental Eye Research , vol.83 , Issue.1 , pp. 97-119
    • Reiners, J.1    Nagel-Wolfrum, K.2    Jurgens, K.3    Marker, T.4    Wolfrum, U.5
  • 2
    • 0016880752 scopus 로고
    • Familial branchio-otorenal dysplasia: A new addition to the branchial arch syndromes
    • Melnick M, Bixler D, Nance WE, Silk K, Yune H: Familial branchio- otorenal dysplasia: a new addition to the branchial arch syndromes. Clin Genet 1976;9:25-34.
    • (1976) Clin. Genet. , vol.9 , pp. 25-34
    • Melnick, M.1    Bixler, D.2    Nance, W.E.3    Silk, K.4    Yune, H.5
  • 6
    • 0018254276 scopus 로고
    • Genetic aspects of the BOR syndrome - branchial fistulas, ear pits, hearing loss, and renal anomalies
    • Fraser FC, Ling D, Clogg D, Nogrady B: Genetic aspects of the BOR syndrome - branchial fistulas, ear pits, hearing loss, and renal anomalies. Am J Med Genet 1978;2:241-252. (Pubitemid 9086016)
    • (1978) American Journal of Medical Genetics , vol.2 , Issue.3 , pp. 241-252
    • Fraser, F.C.1    Ling, D.2    Clogg, D.3    Nogrady, B.4
  • 8
    • 0004837512 scopus 로고
    • The temporal bone in the preauricular pit cervical fistula hearing loss syndrome
    • Fitch N, Lindsay JR, Srolovitz H: The temporal bone in the preauricular pit, cervical fistula, hearing loss syndrome. Ann Otol 1976;85:268-275.
    • (1976) Ann. Otol. , vol.85 , pp. 268-275
    • Fitch, N.1    Lindsay, J.R.2    Srolovitz, H.3
  • 9
    • 0028990685 scopus 로고
    • Phenotypic manifestations of branchiooto-renal syndrome
    • Chen A, Francis M, Ni L, et al: Phenotypic manifestations of branchiooto- renal syndrome. Am J Med Genet 1995;58:365-370.
    • (1995) Am. J. Med. Genet. , vol.58 , pp. 365-370
    • Chen, A.1    Francis, M.2    Ni, L.3
  • 10
    • 0036197558 scopus 로고    scopus 로고
    • Temporal bone anomalies in the branchio-oto-renal syndrome: Detailed computed tomographic and magnetic resonance imaging findings
    • Ceruti S, Stinckens C, Cremers CW, Casselman JW: Temporal bone anomalies in the branchio- oto- renal syndrome: detailed computed tomographic and magnetic resonance imaging findings. Otol Neurotol 2002;23:200-207. (Pubitemid 34208586)
    • (2002) Otology and Neurotology , vol.23 , Issue.2 , pp. 200-207
    • Ceruti, S.1    Stinckens, C.2    Cremers, C.W.R.J.3    Casselman, J.W.4
  • 11
    • 0022461894 scopus 로고
    • Branchio-oto-renal syndrome: Reduced penetrance and variable expressivity in four generations of a large kindred
    • Heimler A, Lieber E: BOR syndrome: reduced penetrance and variable expressivity in 4 generations of a large kindred. Am J Med Genet 1986;25:15-27. (Pubitemid 16044579)
    • (1986) American Journal of Medical Genetics , vol.25 , Issue.1 , pp. 15-27
    • Heimler, A.1    Lieber, E.2
  • 12
    • 0020568906 scopus 로고
    • Autosomal dominant duplication of the renal collecting system, hearing loss, and external ear anomalies: A new syndrome?
    • Fraser FC, Ayme S, Halal F, Sproule JR: Autosomal dominant duplication of the renal collecting system, hearing loss, and external ear anomalies: a new syndrome? Am J Med Gen 1983;14:473-478. (Pubitemid 13108936)
    • (1983) American Journal of Medical Genetics , vol.14 , Issue.3 , pp. 473-478
    • Fraser, F.C.1    Ayme, S.2    Halal, F.3    Sproule, J.4
  • 13
    • 0019165942 scopus 로고
    • Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss
    • DOI 10.1002/ajmg.1320070316
    • Fraser FC, Sproule JR, Halal F: Frequency of the branchio- oto- renal (BOR) syndrome in children with profound hearing loss. Am J Med Genet 1980;7:341-349. (Pubitemid 11203638)
    • (1980) American Journal of Medical Genetics , vol.7 , Issue.3 , pp. 341-349
    • Fraser, F.C.1    Sproule, J.R.2    Halal, F.3
  • 16
    • 0031046284 scopus 로고    scopus 로고
    • A human homologue of the drosophila eyes absent gene underlies branchio-otorenal BOR syndrome and identifies a novel gene family
    • Abdelhak S, Kalatzis V, Heilig R, et al: A human homologue of the Drosophila eyes absent gene underlies branchio- otorenal (BOR) syndrome and identifies a novel gene family. Nat Genet 1997;15: 157-164.
    • (1997) Nat. Genet. , vol.15 , pp. 157-164
    • Abdelhak, S.1    Kalatzis, V.2    Heilig, R.3
  • 20
    • 33745840476 scopus 로고    scopus 로고
    • Transcriptional activation of the SALL1 by the human SIX1 homeodomain during kidney development
    • DOI 10.1074/jbc.M600180200
    • Chai L, Yang J, Di C, et al: Transcriptional activation of the SALL1 by the human SIX1 homeodomain during kidney development. J Biol Chem 2006;281:18918-18926. (Pubitemid 44035394)
    • (2006) Journal of Biological Chemistry , vol.281 , Issue.28 , pp. 18918-18926
    • Chai, L.1    Yang, J.2    Di, C.3    Cui, W.4    Kawakami, K.5    Lai, R.6    Ma, Y.7
  • 21
    • 0842348809 scopus 로고    scopus 로고
    • Atypical Phenotype and Intrafamilial Variability Associated with a Novel SALL1 Mutation [5]
    • Albrecht B, Liebers M, Kohlhase J: Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation. Am J Med Gen 2004;125A: 102-104. (Pubitemid 38166544)
    • (2004) American Journal of Medical Genetics , vol.125 A , Issue.1 , pp. 102-104
    • Albrecht, B.1    Liebers, M.2    Kohlhase, J.3
  • 22
    • 0034042540 scopus 로고    scopus 로고
    • A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype
    • Engels S, Kohlhase J, McGaughran J: A SALL1 mutation causes a branchio- otorenal syndrome- like phenotype. J Med Genet 2000;37:458-460. (Pubitemid 30386741)
    • (2000) Journal of Medical Genetics , vol.37 , Issue.6 , pp. 458-460
    • Engels, S.1    Kohlhase, J.2    McGaughran, J.3
  • 23
    • 33847727918 scopus 로고    scopus 로고
    • Townes-brocks syndrome: Twenty novel sall1 mutations in sporadic and familial cases and refinement of the sall1 hot spot region
    • Botzenhart EM, Bartalini G, Blair E, et al: Townes- Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. Hum Mutat 2007;28:204-205.
    • (2007) Hum. Mutat. , vol.28 , pp. 204-205
    • Botzenhart, E.M.1    Bartalini, G.2    Blair, E.3
  • 24
    • 0025653588 scopus 로고
    • Alports syndrome: A clinical and genetic study
    • Basel Karger
    • Flinter F: Alport syndrome: a clinical and genetic study. Contrib Nephrol. Basel, Karger, 1990, vol 80, pp 9- 16.
    • (1990) Contrib. Nephrol , vol.80 , pp. 9-16
    • Flinter, F.1
  • 25
    • 0021233670 scopus 로고
    • Alport's syndrome: Audiological manifestations and implications
    • Gleeson MJ: Alport syndrome: audiological manifestations and implications. J Laryngol Otol 1984;98:449-465. (Pubitemid 14129052)
    • (1984) Journal of Laryngology and Otology , vol.98 , Issue.5 , pp. 449-465
    • Gleeson, M.J.1
  • 27
  • 28
    • 37349123995 scopus 로고    scopus 로고
    • Inherited diseases of the glomerular basement membrane
    • DOI 10.1038/ncpneph0671, PII NCPNEPH0671
    • Gubler MC: Inherited diseases of the glomerular basement membrane. Nat Clin Pract Nephrol 2008;4:24-37. (Pubitemid 350308222)
    • (2008) Nature Clinical Practice Nephrology , vol.4 , Issue.1 , pp. 24-37
    • Gubler, M.C.1
  • 29
    • 0023673080 scopus 로고
    • Alports syndrome and related hereditary nephropathies
    • Basel Karger
    • Grunfeld JP, Charbonneau R, Grateau G, Noel LH: Alport syndrome and related hereditary nephropathies. Contrib Nephrol. Basel, Karger, 1988, vol 61, pp 82- 90.
    • (1988) Contrib Nephrol , vol.61 , pp. 82-90
    • Grunfeld, J.P.1    Charbonneau, R.2    Grateau, G.3    Noel, L.H.4
  • 31
    • 34250630898 scopus 로고    scopus 로고
    • Alport syndrome and thin basement membrane nephropathy
    • DOI 10.1159/000101802
    • Thorner PS: Alport syndrome and thin basement membrane nephropathy. Nephron Clin Pract 2007;106:c82-c88. (Pubitemid 46933396)
    • (2007) Nephron - Clinical Practice , vol.106 , Issue.2
    • Thorner, P.S.1
  • 32
    • 72449157447 scopus 로고    scopus 로고
    • Retinal findings in patients with alport syndrome: Expanding the clinical spectrum
    • Fawzi AA, Lee NG, Eliott D, Song J, Stewart JM: Retinal findings in patients with Alport syndrome: expanding the clinical spectrum. Br J Ophthalmol 2009; 93:1606-1611.
    • (2009) Br. J. Ophthalmol. , vol.93 , pp. 1606-1611
    • Fawzi, A.A.1    Lee, N.G.2    Eliott, D.3    Song, J.4    Stewart, J.M.5
  • 33
    • 0025292712 scopus 로고
    • Identification of mutations in the COL4A5 collagen gene in alport syndrome
    • Barker DF, Hostikka SL, Zhou J, et al: Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science 1990;248:1224-1227.
    • (1990) Science , vol.248 , pp. 1224-1227
    • Barker, D.F.1    Hostikka, S.L.2    Zhou, J.3
  • 34
    • 0024442303 scopus 로고
    • Distribution of familial nephritis antigen in normal tissue and renal basement membranes of patients with homozygous and heterozygous Alport familial nephritis. Relationship of familial nephritis and Goodpasture antigens to novel collagen chains and type IV collagen
    • Kleppel MM, Kashtan C, Santi PA, Wieslander J, Michael AF: Distribution of familial nephritis antigen in normal tissue and renal basement membranes of patients with homozygous and heterozygous Alport familial nephritis: relationship of familial nephritis and Goodpasture antigens to novel collagen chains and type IV collagen. Lab Invest 1989;61:278-289. (Pubitemid 19249641)
    • (1989) Laboratory Investigation , vol.61 , Issue.3 , pp. 278-289
    • Kleppel, M.M.1    Kashtan, C.2    Santi, P.A.3    Wieslander, J.4    Michael, A.F.5
  • 38
    • 0027494603 scopus 로고
    • Type IV collagen: Structure, gene organization, and role in human diseases. Molecular basis of goodpasture and alport syndromes and diffuse leiomyomatosis
    • Hudson BG, Reeders ST, Tryggvason K: Type IV collagen: structure, gene organization, and role in human diseases: molecular basis of Goodpasture and Alport syndromes and diffuse leiomyomatosis. J Biol Chem 1993;268:26033-26036. (Pubitemid 23361657)
    • (1993) Journal of Biological Chemistry , vol.268 , Issue.35 , pp. 26033-26036
    • Hudson, B.G.1    Reeders, S.T.2    Tryggvason, K.3
  • 39
    • 0034049609 scopus 로고    scopus 로고
    • Alport syndrome and diffuse leiomyomatosis. Clinical aspects, pathology, molecular biology and extracellular matrix studies. A synthesis
    • Garcia- Torres R, Cruz D, Orozco L, Heidet L, Gubler MC: Alport syndrome and diffuse leiomyomatosis: clinical aspects, pathology, molecular biology and extracellular matrix studies. A synthesis. Nephrologie 2000;21:9-12. (Pubitemid 30123190)
    • (2000) Nephrologie , vol.21 , Issue.1 , pp. 9-12
    • Garcia-Torres, R.1    Cruz, D.2    Orozco, L.3    Heidet, L.4    Gubler, M.C.5
  • 41
    • 69549089909 scopus 로고    scopus 로고
    • Treatment of alport syndrome: Beyond animal models
    • Gross O, Kashtan CE: Treatment of Alport syndrome: beyond animal models. Kidney Int 2009;76:599-603.
    • (2009) Kidney Int. , vol.76 , pp. 599-603
    • Gross, O.1    Kashtan, C.E.2
  • 42
    • 1542315368 scopus 로고    scopus 로고
    • Perspectives for gene therapy in renal diseases
    • DOI 10.2169/internalmedicine.43.85
    • Imai E, Isaka Y: Perspectives for gene therapy in renal diseases. Intern Med 2004;43:85-96. (Pubitemid 38325157)
    • (2004) Internal Medicine , vol.43 , Issue.2 , pp. 85-96
    • Imai, E.1    Isaka, Y.2
  • 43
    • 33746922312 scopus 로고    scopus 로고
    • Renal transplantation in patients with Alport syndrome
    • DOI 10.1111/j.1399-3046.2006.00528.x
    • Kashtan CE: Renal transplantation in patients with Alport syndrome. Pediatr Transplant 2006;10:651-657. (Pubitemid 44186284)
    • (2006) Pediatric Transplantation , vol.10 , Issue.6 , pp. 651-657
    • Kashtan, C.E.1
  • 44
    • 0032818483 scopus 로고    scopus 로고
    • Renal-coloboma syndrome: A multi-system developmental disorder caused by PAX2 mutations
    • DOI 10.1034/j.1399-0004.1999.560101.x
    • Eccles MR, Schimmenti LA: Renalcoloboma syndrome: a multi- system developmental disorder caused by PAX2 mutations. Clin Genet 1999;56:1-9. (Pubitemid 29354006)
    • (1999) Clinical Genetics , vol.56 , Issue.1 , pp. 1-9
    • Ecoles, M.R.1    Schimmenti, L.A.2
  • 47
    • 0028966947 scopus 로고
    • Mutation of the PAX2 gene in a family with optic nerve colobomas renal anomalies and vesicoureteral reflux
    • Sanyanusin P, Schimmenti LA, McNoe LA, et al: Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. Nat Genet 1995;9:358-364.
    • (1995) Nat. Genet. , vol.9 , pp. 358-364
    • Sanyanusin, P.1    Schimmenti, L.A.2    McNoe, L.A.3
  • 48
    • 0033678520 scopus 로고    scopus 로고
    • PAX2 mutations in renal-coloboma syndrome: Mutational hotspot and germline mosaicism
    • Amiel J, Audollent S, Joly D, et al: PAX2 mutations in renal- coloboma syndrome: mutational hotspot and germline mosaicism. Eur J Hum Genet 2000;8:820-826.
    • (2000) Eur. J. Hum. Genet. , vol.8 , pp. 820-826
    • Amiel, J.1    Audollent, S.2    Joly, D.3
  • 50
    • 0015304377 scopus 로고
    • Hereditary macrothrombocytopathia nephritis and deafness
    • Epstein CJ, Sahud MA, Piel CF, et al: Hereditary macrothrombocytopathia, nephritis and deafness. Am J Med 1972; 52:299-310.
    • (1972) Am. J. Med. , vol.52 , pp. 299-310
    • Epstein, C.J.1    Sahud, M.A.2    Piel, C.F.3
  • 53
    • 73649189052 scopus 로고
    • Urticaria deafness and amyloidosis: A new heredofamilial syndrome
    • Muckle TJ, Wells SM: Urticaria, deafness, and amyloidosis: a new heredofamilial syndrome. Q J Med 1962;31: 235-248.
    • (1962) Q. J. Med. , vol.31 , pp. 235-248
    • Muckle, T.J.1    Wells, S.M.2
  • 54
    • 0036745064 scopus 로고    scopus 로고
    • Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever cold sensitivity sensorineural deafness and AA amyloidosis
    • Aganna E, Martinon F, Hawkins PN, et al: Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis. Arthritis Rheum 2002;46:2445-2452.
    • (2002) Arthritis. Rheum. , vol.46 , pp. 2445-2452
    • Aganna, E.1    Martinon, F.2    Hawkins, P.N.3
  • 56
    • 0015796049 scopus 로고
    • Familial infantile renal tubular acidosis and congenital nerve deafness: An autosomal recessive syndrome
    • Cohen T, Brand- Auraban A, Karshai C, et al: Familial infantile renal tubular acidosis and congenital nerve deafness: an autosomal recessive syndrome. Clin Genet 1973;4:275-278.
    • (1973) Clin. Genet. , vol.4 , pp. 275-278
    • Cohen, T.1    Brand-Auraban, A.2    Karshai, C.3
  • 60
    • 70349731548 scopus 로고    scopus 로고
    • Inner ear abnormalities in four patients with dRTA and SNHL: Clinical and genetic heterogeneity
    • Andreucci E, Bianchi B, Carboni I, et al: Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity. Pediatr Nephrol 2009;24:2147-2153.
    • (2009) Pediatr. Nephrol. , vol.24 , pp. 2147-2153
    • Andreucci, E.1    Bianchi, B.2    Carboni, I.3
  • 62
    • 0028787681 scopus 로고
    • Infantile variant of bartter syndrome and sensorineural deafness: A new autosomal recessive disorder
    • Landau D, Shalev H, Ohaly M, Carmi R: Infantile variant of Bartter syndrome and sensorineural deafness: a new autosomal recessive disorder. Am J Med Genet 1995;59:454-459.
    • (1995) Am. J. Med. Genet. , vol.59 , pp. 454-459
    • Landau, D.1    Shalev, H.2    Ohaly, M.3    Carmi, R.4
  • 64
    • 0035408815 scopus 로고    scopus 로고
    • Hypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness
    • Jeck N, Reinalter SC, Henne T, et al: Hypokalemic salt- losing tubulopathy with chronic renal failure and sensorineural deafness. Pediatrics 2001;108: E5.
    • (2001) Pediatrics , vol.108
    • Jeck, N.1    Reinalter, S.C.2    Henne, T.3
  • 65
    • 79952426422 scopus 로고    scopus 로고
    • Genetic hearing loss associated with renal disorders in toriello HV
    • Reardon W Gorlin RJ eds ed 2. New York Oxford University Press
    • Bitner- Glindzicz M, Heath KE, Campos- Barros A: Genetic hearing loss associated with renal disorders; in Toriello HV, Reardon W, Gorlin RJ (eds): Hereditary Hearing Loss and its Syndromes, ed 2. New York, Oxford University Press, 2004, pp 267- 289.
    • (2004) Hereditary Hearing Loss and its Syndromes , pp. 267-289
    • Bitner-Glindzicz, M.1    Heath, K.E.2    Campos-Barros, A.3


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