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Volumn 12, Issue 2, 2008, Pages 289-294

Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

EID: 45549107998     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2007.0107     Document Type: Article
Times cited : (29)

References (23)
  • 1
    • 0034164449 scopus 로고    scopus 로고
    • Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families
    • Adato A, Weston MD, Berry A, Kimberling WJ, Bonne-Tamir A (2000) Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families. Hum Mutat 15:388.
    • (2000) Hum Mutat , vol.15 , pp. 388
    • Adato, A.1    Weston, M.D.2    Berry, A.3    Kimberling, W.J.4    Bonne-Tamir, A.5
  • 4
    • 0018185292 scopus 로고
    • Molecular basis of base substitution hotspots in Escherichia coli
    • Coulondre C, Miller JH, Farabaugh PJ, Gilbert W (1978) Molecular basis of base substitution hotspots in Escherichia coli. Nature 274:775-780.
    • (1978) Nature , vol.274 , pp. 775-780
    • Coulondre, C.1    Miller, J.H.2    Farabaugh, P.J.3    Gilbert, W.4
  • 7
  • 10
    • 33846987563 scopus 로고    scopus 로고
    • Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2
    • Kaiserman N, Obolensky A, Banin E, Sharon D (2007) Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2. Arch Ophthalmol 125:219-224.
    • (2007) Arch Ophthalmol , vol.125 , pp. 219-224
    • Kaiserman, N.1    Obolensky, A.2    Banin, E.3    Sharon, D.4
  • 12
    • 34248353947 scopus 로고    scopus 로고
    • Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells
    • Liu X, Bulgakov OV, Darrow KN, Pawlyk B, Adamian M, Liberman MC, Li T (2007) Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells. Proc Natl Acad Sci USA 104:4413-4418.
    • (2007) Proc Natl Acad Sci USA , vol.104 , pp. 4413-4418
    • Liu, X.1    Bulgakov, O.V.2    Darrow, K.N.3    Pawlyk, B.4    Adamian, M.5    Liberman, M.C.6    Li, T.7
  • 14
    • 0036635438 scopus 로고    scopus 로고
    • Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively
    • Najera C, Beneyto M, Blanca J, Aller E, Fontcuberta A, Millan JM, Ayuso C (2002) Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively. Hum Mutat 20:76-77.
    • (2002) Hum Mutat , vol.20 , pp. 76-77
    • Najera, C.1    Beneyto, M.2    Blanca, J.3    Aller, E.4    Fontcuberta, A.5    Millan, J.M.6    Ayuso, C.7
  • 16
    • 0035514049 scopus 로고    scopus 로고
    • A genetic profile of contemporary Jewish populations
    • Ostrer H (2001) A genetic profile of contemporary Jewish populations. Nat Rev Genet 2:891-898.
    • (2001) Nat Rev Genet , vol.2 , pp. 891-898
    • Ostrer, H.1
  • 18
    • 0035775666 scopus 로고    scopus 로고
    • Usher syndrome: From genetics to pathogenesis
    • Petit C (2001) Usher syndrome: from genetics to pathogenesis. Annu Rev Genomics Hum Genet 2:271-297.
    • (2001) Annu Rev Genomics Hum Genet , vol.2 , pp. 271-297
    • Petit, C.1
  • 19
    • 35448977775 scopus 로고    scopus 로고
    • In vitro and ex vivo suppression by aminoglycosides of PCDH15 nonsense mutations underlying type 1 Usher syndrome
    • Rebibo-Sabbah A, Nudelman I, Ahmed ZM, Baasov T, Ben-Yosef T (2007) In vitro and ex vivo suppression by aminoglycosides of PCDH15 nonsense mutations underlying type 1 Usher syndrome. Hum Genet 122:373-381.
    • (2007) Hum Genet , vol.122 , pp. 373-381
    • Rebibo-Sabbah, A.1    Nudelman, I.2    Ahmed, Z.M.3    Baasov, T.4    Ben-Yosef, T.5
  • 20
    • 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, Claassen A, Yntema HG, Hoefsloot LH, Cremers FP, Cremers CW, Kremer H (2004) 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 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    Claassen, A.4    Yntema, H.G.5    Hoefsloot, L.H.6    Cremers, F.P.7    Cremers, C.W.8    Kremer, H.9
  • 22
    • 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, Moller C, Kimberling WJ (2004) Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II. Am J Hum Genet 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    Moller, C.4    Kimberling, W.J.5
  • 23
    • 0034058539 scopus 로고    scopus 로고
    • Molecular basis of mendelian disorders among Jews
    • Zlotogora J, Bach G, Munnich A (2000) Molecular basis of mendelian disorders among Jews. Mol Genet Metab 69:169-180.
    • (2000) Mol Genet Metab , vol.69 , pp. 169-180
    • Zlotogora, J.1    Bach, G.2    Munnich, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.