메뉴 건너뛰기




Volumn 22, Issue 1, 2009, Pages 19-27

Update on Usher syndrome

Author keywords

Inner ear; Retina; Usher syndrome

Indexed keywords

CADHERIN 23; CLARIN 1; HARMONIN PROTEIN; MASS1 PROTEIN; MYOSIN VIIA; PROTEIN; PROTOCADHERIN 15; SCAFFOLD PROTEIN CONTAINING ANKYRIN REPEAT AND SAM DOMAIN; UNCLASSIFIED DRUG; USHERIN; WHIRLIN;

EID: 60549091982     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/WCO.0b013e3283218807     Document Type: Review
Times cited : (108)

References (117)
  • 1
    • 32444438120 scopus 로고    scopus 로고
    • Evidence-based overview of ophthalmic disorders in deaf children: A literature update
    • discussion SO
    • Nikolopoulos TP, Lioumi D, Stamataki S, O'Donoghue GM. Evidence-based overview of ophthalmic disorders in deaf children: a literature update. Otol Neurotol 2006; 27 (2 Suppl 1):S1 -S24; discussion SO.
    • (2006) Otol Neurotol , vol.27 , Issue.2 SUPPL. 1
    • Nikolopoulos, T.P.1    Lioumi, D.2    Stamataki, S.3    O'Donoghue, G.M.4
  • 2
    • 0027180952 scopus 로고
    • Genetic epidemiological studies of early-onset deafness in the U.S. school-age population
    • Marazita ML, Ploughman LM, Rawlings B, et al. Genetic epidemiological studies of early-onset deafness in the U.S. school-age population. Am J Med Genet 1993; 46:486-491.
    • (1993) Am J Med Genet , vol.46 , pp. 486-491
    • Marazita, M.L.1    Ploughman, L.M.2    Rawlings, B.3
  • 3
    • 0030922189 scopus 로고    scopus 로고
    • The prevalence of Usher syndrome and other retinal dystrophy-hearing impairment associations
    • Rosenberg T, Haim M, Hauch AM, Parving A. The prevalence of Usher syndrome and other retinal dystrophy-hearing impairment associations. Clin Genet 1997; 51:314-321.
    • (1997) Clin Genet , vol.51 , pp. 314-321
    • Rosenberg, T.1    Haim, M.2    Hauch, A.M.3    Parving, A.4
  • 4
    • 0036951477 scopus 로고    scopus 로고
    • Prevalence and geographical distribution of Usher syndrome in Germany
    • Spandau UH, Rohrschneider K. Prevalence and geographical distribution of Usher syndrome in Germany. Graefes Arch Clin Exp Ophthalmol 2002; 240:495-498.
    • (2002) Graefes Arch Clin Exp Ophthalmol , vol.240 , pp. 495-498
    • Spandau, U.H.1    Rohrschneider, K.2
  • 5
    • 0020619770 scopus 로고
    • Usher syndrome: Definition and estimate of prevalence from two high-risk populations
    • Boughman JA, Vernon M, Shaver KA. Usher syndrome: definition and estimate of prevalence from two high-risk populations. J Chronic Dis 1983; 36:595-603.
    • (1983) J Chronic Dis , vol.36 , pp. 595-603
    • Boughman, J.A.1    Vernon, M.2    Shaver, K.A.3
  • 6
    • 0023091261 scopus 로고
    • Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway
    • Grondahl J. Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway. Clin Genet 1987; 31:255-264.
    • (1987) Clin Genet , vol.31 , pp. 255-264
    • Grondahl, J.1
  • 8
    • 0035775666 scopus 로고    scopus 로고
    • Usher syndrome: From genetics to pathogenesis
    • Petit C. Usher syndrome: from genetics to pathogenesis. Annu Rev Genomics Hum Genet 2001; 2:271-297.
    • (2001) Annu Rev Genomics Hum Genet , vol.2 , pp. 271-297
    • Petit, C.1
  • 9
    • 0032511101 scopus 로고    scopus 로고
    • Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type lla
    • Eudy JD, Weston MD, Yao S, et al. Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type lla. Science 1998; 280:1753-1757.
    • (1998) Science , vol.280 , pp. 1753-1757
    • Eudy, J.D.1    Weston, M.D.2    Yao, S.3
  • 10
    • 0342615016 scopus 로고    scopus 로고
    • A sequence-ready map of the Usher syndrome type III critical region on chromosome 3q
    • Joensuu T, Hamalainen R, Lehesjoki AE, et al. A sequence-ready map of the Usher syndrome type III critical region on chromosome 3q. Genomics 2000; 63:409-416.
    • (2000) Genomics , vol.63 , pp. 409-416
    • Joensuu, T.1    Hamalainen, R.2    Lehesjoki, A.E.3
  • 13
    • 0036021030 scopus 로고    scopus 로고
    • USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory sy-napses
    • Adato A, Vreugde S, Joensuu T, et al. USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory sy-napses. Eur J Hum Genet 2002; 10:339-350.
    • (2002) Eur J Hum Genet , vol.10 , pp. 339-350
    • Adato, A.1    Vreugde, S.2    Joensuu, T.3
  • 14
    • 0036723958 scopus 로고    scopus 로고
    • Usher syndrome type III: Revised genomic structure of the USH3 gene and identification of novel mutations
    • Fields RR, Zhou G, Huang D, et al. Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations. Am J Hum Genet 2002; 71:607-617.
    • (2002) Am J Hum Genet , vol.71 , pp. 607-617
    • Fields, R.R.1    Zhou, G.2    Huang, D.3
  • 15
    • 0142209180 scopus 로고    scopus 로고
    • Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III
    • Ness SL, Ben-Yosef T, Bar-Lev A, et al. Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III. J Med Genet 2003; 40:767-772.
    • (2003) J Med Genet , vol.40 , pp. 767-772
    • Ness, S.L.1    Ben-Yosef, T.2    Bar-Lev, A.3
  • 16
    • 0031014526 scopus 로고    scopus 로고
    • Usher syndrome in the city of Birmingham-prevalence and clinical classification
    • Hope CI, Bundey S, Proops D, Fielder AR. Usher syndrome in the city of Birmingham-prevalence and clinical classification. Br J Ophthalmol 1997; 81:46-53.
    • (1997) Br J Ophthalmol , vol.81 , pp. 46-53
    • Hope, C.I.1    Bundey, S.2    Proops, D.3    Fielder, A.R.4
  • 17
    • 0036117719 scopus 로고    scopus 로고
    • Usher syndrome clinical types I and II: Could ocular symptoms and signs differentiate between the two types?
    • Tsilou ET, Rubin BI, Caruso RC, et al. Usher syndrome clinical types I and II: could ocular symptoms and signs differentiate between the two types? Acta Ophthalmol Scand 2002; 80:196-201.
    • (2002) Acta Ophthalmol Scand , vol.80 , pp. 196-201
    • Tsilou, E.T.1    Rubin, B.I.2    Caruso, R.C.3
  • 18
    • 33947201782 scopus 로고    scopus 로고
    • The changing face of Usher syndrome: Clinical implications
    • Cohen M, Bitner-Glindzicz M, Luxon L. The changing face of Usher syndrome: clinical implications. Int J Audiol 2007; 46:82-93.
    • (2007) Int J Audiol , vol.46 , pp. 82-93
    • Cohen, M.1    Bitner-Glindzicz, M.2    Luxon, L.3
  • 19
    • 0021710774 scopus 로고
    • Vestibular and auditory function in Usher's syndrome
    • Kumar A, Fishman G, Torok N. Vestibular and auditory function in Usher's syndrome. Ann Otol Rhinol Laryngol 1984; 93 (6 Pt 1):600-608.
    • (1984) Ann Otol Rhinol Laryngol , vol.93 , Issue.6 PART 1 , pp. 600-608
    • Kumar, A.1    Fishman, G.2    Torok, N.3
  • 22
    • 0027058412 scopus 로고
    • Linkage of Usher syndrome type I gene (USH1 B) to the long arm of chromosome 11
    • Kimberling WJ, Moller CG, Davenport S, et al. Linkage of Usher syndrome type I gene (USH1 B) to the long arm of chromosome 11. Genomics 1992; 14:988-994.
    • (1992) Genomics , vol.14 , pp. 988-994
    • Kimberling, W.J.1    Moller, C.G.2    Davenport, S.3
  • 23
    • 0030951102 scopus 로고    scopus 로고
    • The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene
    • Weil D, Kussel P, Blanchard S, et al. The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. Nat Genet 1997; 16:191-193.
    • (1997) Nat Genet , vol.16 , pp. 191-193
    • Weil, D.1    Kussel, P.2    Blanchard, S.3
  • 24
    • 0033816925 scopus 로고    scopus 로고
    • A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C
    • Verpy E, Leibovici M, Zwaenepoel I, et al. A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. Nat Genet 2000; 26:51-55.
    • (2000) Nat Genet , vol.26 , pp. 51-55
    • Verpy, E.1    Leibovici, M.2    Zwaenepoel, I.3
  • 25
    • 0033822063 scopus 로고    scopus 로고
    • A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene
    • Bitner-Glindzicz M, Lindley KJ, Rutland P, et al. A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. Nat Genet 2000; 26:56-60.
    • (2000) Nat Genet , vol.26 , pp. 56-60
    • Bitner-Glindzicz, M.1    Lindley, K.J.2    Rutland, P.3
  • 26
    • 0035168168 scopus 로고    scopus 로고
    • Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23
    • Bork JM, Peters LM, Riazuddin S, et al. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Am J Hum Genet 2001; 68:26-37.
    • (2001) Am J Hum Genet , vol.68 , pp. 26-37
    • Bork, J.M.1    Peters, L.M.2    Riazuddin, S.3
  • 27
    • 0035158639 scopus 로고    scopus 로고
    • Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D
    • Bolz H, von Brederlow B, Ramirez A, et al. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. Nat Genet 2001; 27:108-112.
    • (2001) Nat Genet , vol.27 , pp. 108-112
    • Bolz, H.1    von Brederlow, B.2    Ramirez, A.3
  • 28
    • 0031032971 scopus 로고    scopus 로고
    • A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21
    • Chaib H, Kaplan J, Gerber S, et al. A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21. Hum Mol Genet 1997; 6:27-31.
    • (1997) Hum Mol Genet , vol.6 , pp. 27-31
    • Chaib, H.1    Kaplan, J.2    Gerber, S.3
  • 29
    • 0035421436 scopus 로고    scopus 로고
    • Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F
    • Alagramam KN, Yuan H, Kuehn MH, et al. Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. Hum Mol Genet 2001; 10:1709-1718.
    • (2001) Hum Mol Genet , vol.10 , pp. 1709-1718
    • Alagramam, K.N.1    Yuan, H.2    Kuehn, M.H.3
  • 30
    • 0034968358 scopus 로고    scopus 로고
    • Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F
    • Ahmed ZM, Riazuddin S, Bernstein SL, et al. Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. Am J Hum Genet 2001; 69:25-34.
    • (2001) Am J Hum Genet , vol.69 , pp. 25-34
    • Ahmed, Z.M.1    Riazuddin, S.2    Bernstein, S.L.3
  • 31
    • 0037341463 scopus 로고    scopus 로고
    • Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin
    • Weil D, EI-Amraoui A, Masmoudi S, et al. Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. Hum Mol Genet 2003; 12:463-471.
    • (2003) Hum Mol Genet , vol.12 , pp. 463-471
    • Weil, D.1    EI-Amraoui, A.2    Masmoudi, S.3
  • 32
    • 1842592042 scopus 로고    scopus 로고
    • Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II
    • van Wijk E, Pennings RJ, te Brinke H, et al. Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II. Am J Hum Genet 2004; 74:738-744.
    • (2004) Am J Hum Genet , vol.74 , pp. 738-744
    • van Wijk, E.1    Pennings, R.J.2    te Brinke, H.3
  • 33
    • 0032958299 scopus 로고    scopus 로고
    • A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2
    • Hmani M, Ghorbel A, Boulila-Elgaied A, et al. A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2. Eur J Hum Genet 1999; 7:363-367.
    • (1999) Eur J Hum Genet , vol.7 , pp. 363-367
    • Hmani, M.1    Ghorbel, A.2    Boulila-Elgaied, A.3
  • 34
    • 0842328857 scopus 로고    scopus 로고
    • Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II
    • Weston MD, Luijendijk MW, Humphrey KD, et al. Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II. Am J Hum Genet 2004; 74:357-366.
    • (2004) Am J Hum Genet , vol.74 , pp. 357-366
    • Weston, M.D.1    Luijendijk, M.W.2    Humphrey, K.D.3
  • 35
    • 33947148611 scopus 로고    scopus 로고
    • A novel gene for Usher syndrome type 2: Mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss
    • Ebermann I, Scholl HP, Charbel Issa P, et al. A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss. Hum Genet 2007; 121:203-211.
    • (2007) Hum Genet , vol.121 , pp. 203-211
    • Ebermann, I.1    Scholl, H.P.2    Charbel Issa, P.3
  • 36
    • 0036626684 scopus 로고    scopus 로고
    • Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC
    • Ahmed ZM, Smith TN, Riazuddin S, et al. Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC. Hum Genet 2002; 110:527-531.
    • (2002) Hum Genet , vol.110 , pp. 527-531
    • Ahmed, Z.M.1    Smith, T.N.2    Riazuddin, S.3
  • 37
    • 0030960855 scopus 로고    scopus 로고
    • Mutations in the myosin VIIA gene cause nonsyndromic recessive deafness
    • Liu XZ, Walsh J, Mburu P, et al. Mutations in the myosin VIIA gene cause nonsyndromic recessive deafness. Nat Genet 1997; 16:188-190.
    • (1997) Nat Genet , vol.16 , pp. 188-190
    • Liu, X.Z.1    Walsh, J.2    Mburu, P.3
  • 38
    • 0043168114 scopus 로고    scopus 로고
    • Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31
    • Mburu P, Mustapha M, Varela A, et al. Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. Nat Genet 2003; 34:421-428.
    • (2003) Nat Genet , vol.34 , pp. 421-428
    • Mburu, P.1    Mustapha, M.2    Varela, A.3
  • 39
    • 0033927821 scopus 로고    scopus 로고
    • Missense mutation in the USH2A gene: Association with recessive retinitis pigmentosa without hearing loss
    • Rivolta C, Sweklo EA, Berson EL, Dryja TP. Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. Am J Hum Genet 2000; 66:1975-1978.
    • (2000) Am J Hum Genet , vol.66 , pp. 1975-1978
    • Rivolta, C.1    Sweklo, E.A.2    Berson, E.L.3    Dryja, T.P.4
  • 40
    • 4344578456 scopus 로고    scopus 로고
    • Comprehensive screening of the USH2A gene in Usher syndrome type II and nonsyndromic recessive retinitis pigmentosa
    • Seyedahmadi BJ, Rivolta C, Keene JA, et al. Comprehensive screening of the USH2A gene in Usher syndrome type II and nonsyndromic recessive retinitis pigmentosa. Exp Eye Res 2004; 79:167-173.
    • (2004) Exp Eye Res , vol.79 , pp. 167-173
    • Seyedahmadi, B.J.1    Rivolta, C.2    Keene, J.A.3
  • 41
    • 18444366182 scopus 로고    scopus 로고
    • CDH23 mutation and phenotype heterogeneity: A profile of 107 diverse families with Usher syndrome and nonsyndromic deafness
    • Astuto LM, Bork JM, Weston MD, et al. CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. Am J Hum Genet 2002; 71:262-275.
    • (2002) Am J Hum Genet , vol.71 , pp. 262-275
    • Astuto, L.M.1    Bork, J.M.2    Weston, M.D.3
  • 42
    • 0242711914 scopus 로고    scopus 로고
    • A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome
    • Ben-Yosef T, Ness SL, Madeo AC, et al. A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome. N Engl J Med 2003; 348:1664-1670.
    • (2003) N Engl J Med , vol.348 , pp. 1664-1670
    • Ben-Yosef, T.1    Ness, S.L.2    Madeo, A.C.3
  • 43
  • 44
    • 33749019339 scopus 로고    scopus 로고
    • Usher syndrome: Molecular links of pathogenesis, proteins and pathways
    • Kremer H, van Wijk E, Marker T, et al. Usher syndrome: molecular links of pathogenesis, proteins and pathways. Hum Mol Genet 2006; 15 Spec No 2:R262-70.
    • (2006) Hum Mol Genet , vol.15 , Issue.SPEC 2
    • Kremer, H.1    van Wijk, E.2    Marker, T.3
  • 45
    • 0348013128 scopus 로고    scopus 로고
    • PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleies are responsible for both USH1 F and DFNB23
    • Ahmed ZM, Riazuddin S, Ahmad J, et al. PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleies are responsible for both USH1 F and DFNB23. Hum Mol Genet 2003; 12:3215-3223.
    • (2003) Hum Mol Genet , vol.12 , pp. 3215-3223
    • Ahmed, Z.M.1    Riazuddin, S.2    Ahmad, J.3
  • 46
    • 0036664454 scopus 로고    scopus 로고
    • Mutations in the alternatively spliced exons of USH1C cause nonsyndromic recessive deafness
    • Ouyang XM, Xia XJ, Verpy E, et al. Mutations in the alternatively spliced exons of USH1C cause nonsyndromic recessive deafness. Hum Genet 2002; 111:26-30.
    • (2002) Hum Genet , vol.111 , pp. 26-30
    • Ouyang, X.M.1    Xia, X.J.2    Verpy, E.3
  • 47
    • 0036362711 scopus 로고    scopus 로고
    • Clinical presentation of DFNB12 and Usher syndrome type 1D
    • Bork JM, Morell RJ, Khan S, et al. Clinical presentation of DFNB12 and Usher syndrome type 1D. Adv Otorhinolaryngol 2002; 61:145-152.
    • (2002) Adv Otorhinolaryngol , vol.61 , pp. 145-152
    • Bork, J.M.1    Morell, R.J.2    Khan, S.3
  • 48
    • 33846699514 scopus 로고    scopus 로고
    • Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1 F syndrome
    • Le Guedard S, Faugere V, Malcolm S, et al. Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1 F syndrome. Mol Vis 2007; 13:102-107.
    • (2007) Mol Vis , vol.13 , pp. 102-107
    • Le Guedard, S.1    Faugere, V.2    Malcolm, S.3
  • 49
    • 17844368155 scopus 로고    scopus 로고
    • Haplotype analysis of the USH1D locus and genotype-phenotype correlations
    • Liu XZ, Blanton SH, Bitner-Glindzicz M, et al. Haplotype analysis of the USH1D locus and genotype-phenotype correlations. Clin Genet 2001; 60:58-62.
    • (2001) Clin Genet , vol.60 , pp. 58-62
    • Liu, X.Z.1    Blanton, S.H.2    Bitner-Glindzicz, M.3
  • 50
    • 33749346050 scopus 로고    scopus 로고
    • Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%
    • Roux AF, Faugere V, Le Guedard S, et al. Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. J Med Genet 2006; 43:763-768.
    • (2006) J Med Genet , vol.43 , pp. 763-768
    • Roux, A.F.1    Faugere, V.2    Le Guedard, S.3
  • 51
    • 0033358594 scopus 로고    scopus 로고
    • A mutation (2314delG) in the Usher syndrome type NA gene: High prevalence and phenotypic variation
    • Liu XZ, Hope C, Liang CY, et al. A mutation (2314delG) in the Usher syndrome type NA gene: high prevalence and phenotypic variation. Am J Hum Genet 1999; 64:1221-1225.
    • (1999) Am J Hum Genet , vol.64 , pp. 1221-1225
    • Liu, X.Z.1    Hope, C.2    Liang, C.Y.3
  • 52
    • 23844543556 scopus 로고    scopus 로고
    • Clinical and genetic studies in Spanish patients with Usher syndrome type II: Description of new mutations and evidence for a lack of genotype-phenotype correlation
    • Bernai S, Meda C, Solans T, et al. Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype-phenotype correlation. Clin Genet 2005; 68:204-214.
    • (2005) Clin Genet , vol.68 , pp. 204-214
    • Bernai, S.1    Meda, C.2    Solans, T.3
  • 53
    • 33144483550 scopus 로고    scopus 로고
    • TheDFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1
    • van WijkE, van der Zwaag B, Peters T, et al. TheDFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1. Hum Mol Genet 2006; 15:751-765.
    • (2006) Hum Mol Genet , vol.15 , pp. 751-765
    • van WijkE1    van der2    Zwaag, B.3    Peters, T.4
  • 54
    • 53749104121 scopus 로고    scopus 로고
    • USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23
    • 25 May [Epub ahead of print
    • Ahmed Z, Riazuddin S, Khan S, et al. USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23. Clin Genet 2008; 25 May [Epub ahead of print].
    • (2008) Clin Genet
    • Ahmed, Z.1    Riazuddin, S.2    Khan, S.3
  • 55
    • 33745916308 scopus 로고    scopus 로고
    • The efficiency of the synaptic vesicle cycle at central nervous system synapses
    • Fernandez-Alfonso T, Ryan TA. The efficiency of the synaptic vesicle cycle at central nervous system synapses. Trends Cell Biol 2006; 16:413-420.
    • (2006) Trends Cell Biol , vol.16 , pp. 413-420
    • Fernandez-Alfonso, T.1    Ryan, T.A.2
  • 56
    • 13544276525 scopus 로고    scopus 로고
    • Interactions in the network of Usher syndrome type 1 proteins
    • Adato A, Michel V, Kikkawa Y, et al. Interactions in the network of Usher syndrome type 1 proteins. Hum Mol Genet 2005; 14:347-356.
    • (2005) Hum Mol Genet , vol.14 , pp. 347-356
    • Adato, A.1    Michel, V.2    Kikkawa, Y.3
  • 57
    • 29644447271 scopus 로고    scopus 로고
    • Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2
    • Reiners J, van Wijk E, Marker T, et al. Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2. Hum Mol Genet 2005; 14:3933-3943.
    • (2005) Hum Mol Genet , vol.14 , pp. 3933-3943
    • Reiners, J.1    van Wijk, E.2    Marker, T.3
  • 58
    • 37549042393 scopus 로고    scopus 로고
    • A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells
    • Maerker T, van Wijk E, Overlack N, et al. A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells. Hum Mol Genet 2008; 17:71-86.
    • (2008) Hum Mol Genet , vol.17 , pp. 71-86
    • Maerker, T.1    van Wijk, E.2    Overlack, N.3
  • 59
    • 12244277402 scopus 로고    scopus 로고
    • Myosin Vila, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle
    • Boeda B, EI-Amraoui A, Bahloul A, et al. Myosin Vila, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle. EMBO J 2002; 21:6689-6699.
    • (2002) EMBO J , vol.21 , pp. 6689-6699
    • Boeda, B.1    EI-Amraoui, A.2    Bahloul, A.3
  • 60
    • 33644537736 scopus 로고    scopus 로고
    • Physical and functional interaction between protocadherin 15 and myosin Vlla in mechanosensory hair cells
    • Senften M, Schwander M, Kazmierczak P, et al. Physical and functional interaction between protocadherin 15 and myosin Vlla in mechanosensory hair cells. J Neurosci 2006; 26:2060-2071.
    • (2006) J Neurosci , vol.26 , pp. 2060-2071
    • Senften, M.1    Schwander, M.2    Kazmierczak, P.3
  • 61
    • 0142200818 scopus 로고    scopus 로고
    • Differential distribution of harmonin isoforms and their possible role in Usher-1 protein complexes in mammalian photoreceptor cells
    • Reiners J, Reidel B, EI-Amraoui A, et al. Differential distribution of harmonin isoforms and their possible role in Usher-1 protein complexes in mammalian photoreceptor cells. Invest Ophthalmol Vis Sci 2003; 44:5006-5015.
    • (2003) Invest Ophthalmol Vis Sci , vol.44 , pp. 5006-5015
    • Reiners, J.1    Reidel, B.2    EI-Amraoui, A.3
  • 62
    • 11844291359 scopus 로고    scopus 로고
    • PDZ-binding motifs are unable to ensure correct polarized protein distribution in the absence of additional localization signals
    • Milewski MI, Lopez A, Jurkowska M, et al. PDZ-binding motifs are unable to ensure correct polarized protein distribution in the absence of additional localization signals. FEBS Lett 2005; 579:483-487.
    • (2005) FEBS Lett , vol.579 , pp. 483-487
    • Milewski, M.I.1    Lopez, A.2    Jurkowska, M.3
  • 63
    • 54749086397 scopus 로고    scopus 로고
    • A specificity map for the PDZ domain family
    • Tonikian R, Zhang Y, Sazinsky SL, et al. A specificity map for the PDZ domain family. PLoS Biol 2008; 6:e239.
    • (2008) PLoS Biol , vol.6
    • Tonikian, R.1    Zhang, Y.2    Sazinsky, S.L.3
  • 64
    • 29644441618 scopus 로고    scopus 로고
    • Usherin, the defective protein in Usher syndrome type NA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells
    • Adato A, Lefevre G, Delprat B, et al. Usherin, the defective protein in Usher syndrome type NA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells. Hum Mol Genet 2005; 14:3921-3932.
    • (2005) Hum Mol Genet , vol.14 , pp. 3921-3932
    • Adato, A.1    Lefevre, G.2    Delprat, B.3
  • 65
    • 0037069346 scopus 로고    scopus 로고
    • The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions
    • Siemens J, Kazmierczak P, Reynolds A, et al. The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions. Proc Natl Acad Sci U S A 2002; 99:14946-14951.
    • (2002) Proc Natl Acad Sci U S A , vol.99 , pp. 14946-14951
    • Siemens, J.1    Kazmierczak, P.2    Reynolds, A.3
  • 66
    • 13544251711 scopus 로고    scopus 로고
    • Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly
    • Delprat B, Michel V, Goodyear R, et al. Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly. Hum Mol Genet 2005; 14:401-410.
    • (2005) Hum Mol Genet , vol.14 , pp. 401-410
    • Delprat, B.1    Michel, V.2    Goodyear, R.3
  • 67
    • 47249166431 scopus 로고    scopus 로고
    • Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene
    • Herrera W, Aleman TS, Cideciyan AV, et al. Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene. Invest Ophthalmol Vis Sci 2008; 49:2651-2660.
    • (2008) Invest Ophthalmol Vis Sci , vol.49 , pp. 2651-2660
    • Herrera, W.1    Aleman, T.S.2    Cideciyan, A.V.3
  • 68
    • 0030828719 scopus 로고    scopus 로고
    • How hearing happens
    • Hudspeth AJ. How hearing happens. Neuron 1997; 19:947-950.
    • (1997) Neuron , vol.19 , pp. 947-950
    • Hudspeth, A.J.1
  • 69
    • 0035424620 scopus 로고    scopus 로고
    • Mechanisms that regulate mechanosensory hair cell differentiation
    • Muller U, Littlewood-Evans A. Mechanisms that regulate mechanosensory hair cell differentiation. Trends Cell Biol 2001; 11:334-342.
    • (2001) Trends Cell Biol , vol.11 , pp. 334-342
    • Muller, U.1    Littlewood-Evans, A.2
  • 70
    • 34547700102 scopus 로고    scopus 로고
    • The micromachinery of mechanotransduction in hair cells
    • Vollrath MA, Kwan KY, Corey DP. The micromachinery of mechanotransduction in hair cells. Annu Rev Neurosci 2007; 30:339-365.
    • (2007) Annu Rev Neurosci , vol.30 , pp. 339-365
    • Vollrath, M.A.1    Kwan, K.Y.2    Corey, D.P.3
  • 71
    • 18844448958 scopus 로고    scopus 로고
    • Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development
    • Lagziel A, Ahmed ZM, Schultz JM, et al. Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development. Dev Biol 2005; 280:295-306.
    • (2005) Dev Biol , vol.280 , pp. 295-306
    • Lagziel, A.1    Ahmed, Z.M.2    Schultz, J.M.3
  • 72
    • 0029794058 scopus 로고    scopus 로고
    • Human Usher 1 B/mouse shaker-1: The retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells
    • el-Amraoui A, Sahly I, Picaud S, et al. Human Usher 1 B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells. Hum Mol Genet 1996; 5:1171-1178.
    • (1996) Hum Mol Genet , vol.5 , pp. 1171-1178
    • el-Amraoui, A.1    Sahly, I.2    Picaud, S.3
  • 73
    • 0030965704 scopus 로고    scopus 로고
    • Effects of shaker-1 mutations on myosin-VIIa protein and mRNA expression
    • Hasson T, Walsh J, Cable J, et al. Effects of shaker-1 mutations on myosin-VIIa protein and mRNA expression. Cell Motil Cytoskeleton 1997; 37:127-138.
    • (1997) Cell Motil Cytoskeleton , vol.37 , pp. 127-138
    • Hasson, T.1    Walsh, J.2    Cable, J.3
  • 74
    • 18844363457 scopus 로고    scopus 로고
    • Cadherin 23 is a component of the transient lateral links in the developing hair bundles of cochlear sensory cells
    • Michel V, Goodyear RJ, Weil D, et al. Cadherin 23 is a component of the transient lateral links in the developing hair bundles of cochlear sensory cells. Dev Biol 2005; 280:281-294.
    • (2005) Dev Biol , vol.280 , pp. 281-294
    • Michel, V.1    Goodyear, R.J.2    Weil, D.3
  • 75
    • 26444539665 scopus 로고    scopus 로고
    • Sustained cadherin 23 expression in young and adult cochlea of normal and hearing-impaired mice
    • Rzadzinska AK, Derr A, Kachar B, Noben-Trauth K. Sustained cadherin 23 expression in young and adult cochlea of normal and hearing-impaired mice. Hear Res 2005; 208:114-121.
    • (2005) Hear Res , vol.208 , pp. 114-121
    • Rzadzinska, A.K.1    Derr, A.2    Kachar, B.3    Noben-Trauth, K.4
  • 76
    • 2342421512 scopus 로고    scopus 로고
    • Cadherin 23 is a component of the tip link in hair-cell stereocilia
    • Siemens J, Lillo C, Dumont RA, et al. Cadherin 23 is a component of the tip link in hair-cell stereocilia. Nature 2004; 428:950-955.
    • (2004) Nature , vol.428 , pp. 950-955
    • Siemens, J.1    Lillo, C.2    Dumont, R.A.3
  • 77
    • 50849144332 scopus 로고    scopus 로고
    • Cadherins and mechanotransduction by hair cells
    • Muller U. Cadherins and mechanotransduction by hair cells. Curr Opin Cell Biol 2008; 20:557-566.
    • (2008) Curr Opin Cell Biol , vol.20 , pp. 557-566
    • Muller, U.1
  • 78
    • 34248353947 scopus 로고    scopus 로고
    • Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells
    • First report of a mouse model for Usher syndrome manifesting photoreceptor degeneration
    • Liu X, Bulgakov OV, Darrow KN, et al. Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells. Proc Natl Acad Sci U S A 2007; 104:4413-4418. First report of a mouse model for Usher syndrome manifesting photoreceptor degeneration.
    • (2007) Proc Natl Acad Sci U S A , vol.104 , pp. 4413-4418
    • Liu, X.1    Bulgakov, O.V.2    Darrow, K.N.3
  • 79
    • 33745787321 scopus 로고    scopus 로고
    • The very large G-protein-coupled receptor VLGR1: A component of the ankle link complex required for the normal development of auditory hair bundles
    • McGee J, Goodyear RJ, McMillan DR, et al. The very large G-protein-coupled receptor VLGR1: a component of the ankle link complex required for the normal development of auditory hair bundles. J Neurosci 2006; 26:6543-6553.
    • (2006) J Neurosci , vol.26 , pp. 6543-6553
    • McGee, J.1    Goodyear, R.J.2    McMillan, D.R.3
  • 80
    • 34250377309 scopus 로고    scopus 로고
    • Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning
    • Michalski N, Michel V, Bahloul A, et al. Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning. J Neurosci 2007; 27:6478-6488.
    • (2007) J Neurosci , vol.27 , pp. 6478-6488
    • Michalski, N.1    Michel, V.2    Bahloul, A.3
  • 81
    • 0034669042 scopus 로고    scopus 로고
    • Vezatin, a novel transmembrane protein, bridges myosin VIIA to the cadherin-catenins complex
    • Kussel-Andermann P, El-Amraoui A, Safieddine S, et al. Vezatin, a novel transmembrane protein, bridges myosin VIIA to the cadherin-catenins complex. EMBO J 2000; 19:6020-6029.
    • (2000) EMBO J , vol.19 , pp. 6020-6029
    • Kussel-Andermann, P.1    El-Amraoui, A.2    Safieddine, S.3
  • 82
    • 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
    • Reiners J, Nagel-Wolfrum K, Jurgens K, et al. 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.
    • (2006) Exp Eye Res , vol.83 , pp. 97-119
    • Reiners, J.1    Nagel-Wolfrum, K.2    Jurgens, K.3
  • 83
    • 0028860302 scopus 로고
    • A type VII myosin encoded by the mouse deafness gene shaker-1
    • Gibson F, Walsh J, Mburu P, etal. A type VII myosin encoded by the mouse deafness gene shaker-1. Nature 1995; 374:62-64.
    • (1995) Nature , vol.374 , pp. 62-64
    • Gibson, F.1    Walsh, J.2    Mburu, P.3
  • 84
    • 0345530996 scopus 로고    scopus 로고
    • Mouse models of USH1C and DFNB18: Phenotypic and molecular analyses of two new spontaneous mutations of the Ushlc gene
    • Johnson KR, Gagnon LH, Webb LS, et al. Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ushlc gene. Hum Mol Genet 2003; 12:3075-3086.
    • (2003) Hum Mol Genet , vol.12 , pp. 3075-3086
    • Johnson, K.R.1    Gagnon, L.H.2    Webb, L.S.3
  • 85
    • 0035168151 scopus 로고    scopus 로고
    • Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1 D
    • Di Palma F, Holme RH, Bryda EC, et al. Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1 D. Nat Genet 2001; 27:103-107.
    • (2001) Nat Genet , vol.27 , pp. 103-107
    • Di Palma, F.1    Holme, R.H.2    Bryda, E.C.3
  • 86
    • 0037337023 scopus 로고    scopus 로고
    • Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice
    • Kikkawa Y, Shitara H, Wakana S, et al. Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice. Hum Mol Genet 2003; 12:453-461.
    • (2003) Hum Mol Genet , vol.12 , pp. 453-461
    • Kikkawa, Y.1    Shitara, H.2    Wakana, S.3
  • 87
    • 0031884319 scopus 로고    scopus 로고
    • Shaker-1 mutations reveal roles for myosin VIIA in both development and function of cochlear hair cells
    • Self T, Mahony M, Fleming J, et al. Shaker-1 mutations reveal roles for myosin VIIA in both development and function of cochlear hair cells. Development 1998; 125:557-566.
    • (1998) Development , vol.125 , pp. 557-566
    • Self, T.1    Mahony, M.2    Fleming, J.3
  • 88
    • 0043244878 scopus 로고    scopus 로고
    • The molecular genetics of Usher syndrome
    • Ahmed ZM, Riazuddin S, Wilcox ER. The molecular genetics of Usher syndrome. Clin Genet 2003; 63:431-444.
    • (2003) Clin Genet , vol.63 , pp. 431-444
    • Ahmed, Z.M.1    Riazuddin, S.2    Wilcox, E.R.3
  • 89
    • 0033938995 scopus 로고    scopus 로고
    • Rhodopsin transport in the membrane of the connecting cilium of mammalian photoreceptor cells
    • Wolfrum U, Schmitt A. Rhodopsin transport in the membrane of the connecting cilium of mammalian photoreceptor cells. Cell Motil Cytoskeleton 2000; 46:95-107.
    • (2000) Cell Motil Cytoskeleton , vol.46 , pp. 95-107
    • Wolfrum, U.1    Schmitt, A.2
  • 91
    • 0031750338 scopus 로고    scopus 로고
    • Myosin Vlla as a common component of cilia and microvilli
    • Wolfrum U, Liu X, Schmitt A, et al. Myosin Vlla as a common component of cilia and microvilli. Cell Motil Cytoskeleton 1998; 40:261-271.
    • (1998) Cell Motil Cytoskeleton , vol.40 , pp. 261-271
    • Wolfrum, U.1    Liu, X.2    Schmitt, A.3
  • 92
    • 0026777641 scopus 로고
    • Ultrastructure of connecting cilia in different forms of retinitis pigmentosa
    • Barrong SD, Chaitin MH, Fliesler SJ, et al. Ultrastructure of connecting cilia in different forms of retinitis pigmentosa. Arch Ophthalmol 1992; 110:706-710.
    • (1992) Arch Ophthalmol , vol.110 , pp. 706-710
    • Barrong, S.D.1    Chaitin, M.H.2    Fliesler, S.J.3
  • 94
    • 0035004268 scopus 로고    scopus 로고
    • Null RPGRIP1 alleles in patients with Leber congenital amaurosis
    • Dryja TP, Adams SM, Grimsby JL, et al. Null RPGRIP1 alleles in patients with Leber congenital amaurosis. Am J Hum Genet 2001; 68:1295-1298.
    • (2001) Am J Hum Genet , vol.68 , pp. 1295-1298
    • Dryja, T.P.1    Adams, S.M.2    Grimsby, J.L.3
  • 95
    • 15844378213 scopus 로고    scopus 로고
    • A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)
    • Meindl A, Dry K, Herrmann K, et al. A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). Nat Genet 1996; 13:35-42.
    • (1996) Nat Genet , vol.13 , pp. 35-42
    • Meindl, A.1    Dry, K.2    Herrmann, K.3
  • 96
    • 33749054088 scopus 로고    scopus 로고
    • Bardet-Biedl syndrome: An emerging pathomechanism of intracellular transport
    • Blacque OE, Leroux MR. Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport. Cell Mol Life Sci 2006; 63:2145-2161.
    • (2006) Cell Mol Life Sci , vol.63 , pp. 2145-2161
    • Blacque, O.E.1    Leroux, M.R.2
  • 97
    • 34250012834 scopus 로고    scopus 로고
    • A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis
    • Nachury MV, Loktev AV, Zhang Q, et al. A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell 2007; 129:1201-1213.
    • (2007) Cell , vol.129 , pp. 1201-1213
    • Nachury, M.V.1    Loktev, A.V.2    Zhang, Q.3
  • 98
    • 25444448312 scopus 로고    scopus 로고
    • Photoreceptor expression of the Usher syndrome type 1 protein protocadherin 15 (USH1F) and its interaction with the scaffold protein harmonin (USH1C)
    • Reiners J, Marker T, Jurgens K, et al. Photoreceptor expression of the Usher syndrome type 1 protein protocadherin 15 (USH1F) and its interaction with the scaffold protein harmonin (USH1C). Mol Vis 2005; 11:347-355.
    • (2005) Mol Vis , vol.11 , pp. 347-355
    • Reiners, J.1    Marker, T.2    Jurgens, K.3
  • 99
    • 33646884877 scopus 로고    scopus 로고
    • Molecular analysis of the supramolecular usher protein complex in the retina. Harmonin as the key protein of the Usher syndrome
    • Reiners J, Wolfrum U. Molecular analysis of the supramolecular usher protein complex in the retina. Harmonin as the key protein of the Usher syndrome. Adv Exp Med Biol 2006; 572:349-353.
    • (2006) Adv Exp Med Biol , vol.572 , pp. 349-353
    • Reiners, J.1    Wolfrum, U.2
  • 100
    • 38749124706 scopus 로고    scopus 로고
    • Usher syndrome: Animal models, retinal function of Usher proteins, and prospects for gene therapy
    • Comprehensive review of animal models in Usher syndrome
    • Williams DS. Usher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapy. Vision Res 2008; 48:433-441. Comprehensive review of animal models in Usher syndrome.
    • (2008) Vision Res , vol.48 , pp. 433-441
    • Williams, D.S.1
  • 101
    • 48049108714 scopus 로고    scopus 로고
    • Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism
    • Jacobson SG, Cideciyan AV, Aleman TS, et al. Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism. Hum Mol Genet 2008; 17:2405-2415.
    • (2008) Hum Mol Genet , vol.17 , pp. 2405-2415
    • Jacobson, S.G.1    Cideciyan, A.V.2    Aleman, T.S.3
  • 102
    • 33847282820 scopus 로고    scopus 로고
    • Development of a genotyping microarray for Usher syndrome
    • Cremers FP, Kimberling WJ, Kulm M, et al. Development of a genotyping microarray for Usher syndrome. J Med Genet 2007; 44:153-160.
    • (2007) J Med Genet , vol.44 , pp. 153-160
    • Cremers, F.P.1    Kimberling, W.J.2    Kulm, M.3
  • 103
    • 0034835042 scopus 로고    scopus 로고
    • Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3
    • Joensuu T, Hamalainen R, Yuan B, et al. Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. Am J Hum Genet 2001; 69:673-684.
    • (2001) Am J Hum Genet , vol.69 , pp. 673-684
    • Joensuu, T.1    Hamalainen, R.2    Yuan, B.3
  • 104
    • 2442718924 scopus 로고    scopus 로고
    • The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa
    • Brownstein Z, Ben-Yosef T, Dagan O, et al. The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa. Pediatr Res 2004; 55:995-1000.
    • (2004) Pediatr Res , vol.55 , pp. 995-1000
    • Brownstein, Z.1    Ben-Yosef, T.2    Dagan, O.3
  • 105
    • 45549107998 scopus 로고    scopus 로고
    • Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews
    • Auslender N, Bandah D, Rizel L, et al. Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews. Genet Test 2008; 12:289-294.
    • (2008) Genet Test , vol.12 , pp. 289-294
    • Auslender, N.1    Bandah, D.2    Rizel, L.3
  • 106
    • 57649239287 scopus 로고    scopus 로고
    • An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians
    • Epub ahead of print, doi: 10.1038/ejhg.2008.143
    • Ebermann I, Koenekoop RK, Lopez I, et al. An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians. Eur J Hum Genet 2008 [Epub ahead of print]. doi: 10.1038/ejhg.2008.143.
    • (2008) Eur J Hum Genet
    • Ebermann, I.1    Koenekoop, R.K.2    Lopez, I.3
  • 107
    • 35748962325 scopus 로고    scopus 로고
    • Deafblindness in French Canadians from Quebec: A predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population
    • Ebermann I, Lopez I, Bitner-Glindzicz M, et al. Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population. Genome Biol 2007; 8:R47.
    • (2007) Genome Biol , vol.8
    • Ebermann, I.1    Lopez, I.2    Bitner-Glindzicz, M.3
  • 108
    • 0033940001 scopus 로고    scopus 로고
    • Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type lla
    • Weston MD, Eudy JD, Fujita S, et al. Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type lla. Am J Hum Genet 2000; 66:1199-1210.
    • (2000) Am J Hum Genet , vol.66 , pp. 1199-1210
    • Weston, M.D.1    Eudy, J.D.2    Fujita, S.3
  • 109
    • 2442656582 scopus 로고    scopus 로고
    • Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments
    • Aller E, Najera C, Millan JM, et al. Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments. Eur J Hum Genet 2004; 12:407-410.
    • (2004) Eur J Hum Genet , vol.12 , pp. 407-410
    • Aller, E.1    Najera, C.2    Millan, J.M.3
  • 110
    • 41449108355 scopus 로고    scopus 로고
    • Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II
    • Dreyer B, Brox V, Tranebjaerg L, et al. Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II. Hum Mutat 2008; 29:451.
    • (2008) Hum Mutat , vol.29 , pp. 451
    • Dreyer, B.1    Brox, V.2    Tranebjaerg, L.3
  • 111
    • 0034973570 scopus 로고    scopus 로고
    • A common ancestral origin of the frequent and widespread 2299delG USH2A mutation
    • Dreyer B, Tranebjaerg L, Brox V, et al. A common ancestral origin of the frequent and widespread 2299delG USH2A mutation. Am J Hum Genet 2001; 69:228-234.
    • (2001) Am J Hum Genet , vol.69 , pp. 228-234
    • Dreyer, B.1    Tranebjaerg, L.2    Brox, V.3
  • 112
    • 0033937587 scopus 로고    scopus 로고
    • Identification of novel USH2A mutations: Implications for the structure of USH2A protein
    • Dreyer B, Tranebjaerg L, Rosenberg T, et al. Identification of novel USH2A mutations: implications for the structure of USH2A protein. Eur J Hum Genet 2000; 8:500-506.
    • (2000) Eur J Hum Genet , vol.8 , pp. 500-506
    • Dreyer, B.1    Tranebjaerg, L.2    Rosenberg, T.3
  • 113
    • 0034740617 scopus 로고    scopus 로고
    • Spectrum of mutations in USH2A in British patients with Usher syndrome type II
    • Leroy BP, Aragon-Martin JA, Weston MD, et al. Spectrum of mutations in USH2A in British patients with Usher syndrome type II. Exp Eye Res 2001; 72:503-509.
    • (2001) Exp Eye Res , vol.72 , pp. 503-509
    • Leroy, B.P.1    Aragon-Martin, J.A.2    Weston, M.D.3
  • 114
    • 11144355079 scopus 로고    scopus 로고
    • Mutational spectrum in Usher syndrome type II
    • Ouyang XM, Hejtmancik JF, Jacobson SG, et al. Mutational spectrum in Usher syndrome type II. Clin Genet 2004; 65:288-293.
    • (2004) Clin Genet , vol.65 , pp. 288-293
    • Ouyang, X.M.1    Hejtmancik, J.F.2    Jacobson, S.G.3
  • 115
    • 34548025292 scopus 로고    scopus 로고
    • Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II
    • Aller E, Jaijo T, Beneyto M, et al. Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II. J Med Genet 2006; 43:e55.
    • (2006) J Med Genet , vol.43
    • Aller, E.1    Jaijo, T.2    Beneyto, M.3
  • 116
    • 34548014988 scopus 로고    scopus 로고
    • Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients
    • Baux D, Larrieu L, Blanchet C, et al. Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients. Hum Mutat 2007; 28:781-789.
    • (2007) Hum Mutat , vol.28 , pp. 781-789
    • Baux, D.1    Larrieu, L.2    Blanchet, C.3
  • 117
    • 65249107881 scopus 로고    scopus 로고
    • Baux D, Faugere V, Larrieu L, et al. UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes. Hum Mutat 2008; 29:E76-E87. First publically available comprehensive repository for the growing number of sequence variants relating to Usher syndrome and related nonsyndromic disorders.
    • Baux D, Faugere V, Larrieu L, et al. UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes. Hum Mutat 2008; 29:E76-E87. First publically available comprehensive repository for the growing number of sequence variants relating to Usher syndrome and related nonsyndromic disorders.


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.