메뉴 건너뛰기




Volumn 8, Issue 4, 1999, Pages 645-653

Inner ear and kidney anomalies caused by IAP insertion in an intron of the Eya1 gene in a mouse model of BOR syndrome

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; BRANCHIOOTORENAL SYNDROME; CHROMOSOME 1; CIRCLING BEHAVIOR; GENE EXPRESSION; GENE INSERTION; GENE MAPPING; HEARING IMPAIRMENT; INNER EAR; INTRON; KIDNEY ANOMALY; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; ONCOGENE; PRIORITY JOURNAL; SPONTANEOUS MUTATION;

EID: 0033061834     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.4.645     Document Type: Article
Times cited : (76)

References (30)
  • 1
    • 0026410464 scopus 로고
    • Genetic epidemiology of hearing loss
    • Morton, N.E. (1991) Genetic epidemiology of hearing loss. Ann. NY Acad. Sci., 630, 16-31.
    • (1991) Ann. NY Acad. Sci. , vol.630 , pp. 16-31
    • Morton, N.E.1
  • 2
    • 0031683423 scopus 로고    scopus 로고
    • The fundamental and medical impacts of recent progress in research on hereditary hearing loss
    • Kalatzis, V. and Petit, C. (1998) The fundamental and medical impacts of recent progress in research on hereditary hearing loss. Hum. Mol. Genet., 7, 1589-1597.
    • (1998) Hum. Mol. Genet. , vol.7 , pp. 1589-1597
    • Kalatzis, V.1    Petit, C.2
  • 4
    • 0028168963 scopus 로고
    • Genetic deafness - Progress with mouse models
    • Brown, S.D. and Steel, K.P. (1994) Genetic deafness - progress with mouse models. Hum. Mol. Genet., 3, 1453-1456.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 1453-1456
    • Brown, S.D.1    Steel, K.P.2
  • 5
    • 0029562474 scopus 로고
    • Inherited hearing defects in mice
    • Steel, K.P. (1995) Inherited hearing defects in mice. Annu. Rev. Genet., 29, 675-701.
    • (1995) Annu. Rev. Genet. , vol.29 , pp. 675-701
    • Steel, K.P.1
  • 12
    • 0031027150 scopus 로고    scopus 로고
    • Mouse Eya homologues of the Drosophila eyes absent gene require Pax6 for expression in lens and nasal placode
    • Xu, P.-X., Woo, I., Her, H., Beier, D.R. and Maas, R.L. (1997) Mouse Eya homologues of the Drosophila eyes absent gene require Pax6 for expression in lens and nasal placode. Development, 124, 219-231.
    • (1997) Development , vol.124 , pp. 219-231
    • Xu, P.-X.1    Woo, I.2    Her, H.3    Beier, D.R.4    Maas, R.L.5
  • 15
    • 0003436550 scopus 로고    scopus 로고
    • Baltimore, MD: Center for Medical Genetics, Johns Hopkins University
    • OMIM (1998) Online Mendelian Inheritance in Man (OMIM) (Baltimore, MD: Center for Medical Genetics, Johns Hopkins University URL: http://www3.ncbi.nlm.nih.gov/omim/).
    • (1998) Online Mendelian Inheritance in Man (OMIM)
  • 16
    • 0031980199 scopus 로고    scopus 로고
    • Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome
    • Kumar, S., Kimberling, W.J., Weston, M.D., Schaefer, B.G., Berg, M.A., Marres, H.A. and Cremers, C.W. (1998) Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome. Hum. Mutat., 11, 443-449.
    • (1998) Hum. Mutat. , vol.11 , pp. 443-449
    • Kumar, S.1    Kimberling, W.J.2    Weston, M.D.3    Schaefer, B.G.4    Berg, M.A.5    Marres, H.A.6    Cremers, C.W.7
  • 17
    • 0024254164 scopus 로고
    • The intracisternal A-particle gene family: Structure and functional aspects
    • Kuff, E.L. and Lueders, K.K. (1988) The intracisternal A-particle gene family: structure and functional aspects. Adv. Cancer Res., 51, 183-276.
    • (1988) Adv. Cancer Res. , vol.51 , pp. 183-276
    • Kuff, E.L.1    Lueders, K.K.2
  • 21
    • 0031229599 scopus 로고    scopus 로고
    • IAP insertion in the murine LamB3 gene results in junctional epidermolysis bullosa
    • Kuster, J.E., Guarnieri, M.H., Ault, J.G., Flaherty, L. and Swiatek, P.J. (1997) IAP insertion in the murine LamB3 gene results in junctional epidermolysis bullosa. Mamm. Genome, 8, 673-681.
    • (1997) Mamm. Genome , vol.8 , pp. 673-681
    • Kuster, J.E.1    Guarnieri, M.H.2    Ault, J.G.3    Flaherty, L.4    Swiatek, P.J.5
  • 22
    • 0030753977 scopus 로고    scopus 로고
    • rl-Alb2, an allele of reeler isolated from a chlorambucil screen, is due to an IAP insertion with exon skipping
    • rl-Alb2, an allele of reeler isolated from a chlorambucil screen, is due to an IAP insertion with exon skipping. Genomics, 42, 479-482.
    • (1997) Genomics , vol.42 , pp. 479-482
    • Royaux, I.1    Bernier, B.2    Montgomery, J.C.3    Flaherty, L.4    Goffinet, A.M.5
  • 23
    • 0031020025 scopus 로고    scopus 로고
    • Inherited somatic mosaicism caused by an intracistemal A particle insertion in the mouse tyrosinase gene
    • Wu, M., Rinchik, E.M., Wilkinson, E. and Johnson, D.K. (1997) Inherited somatic mosaicism caused by an intracistemal A particle insertion in the mouse tyrosinase gene. Proc. Natl Acad. Sci. USA, 94, 890-89.
    • (1997) Proc. Natl Acad. Sci. USA , vol.94 , pp. 890-989
    • Wu, M.1    Rinchik, E.M.2    Wilkinson, E.3    Johnson, D.K.4
  • 24
    • 0030776825 scopus 로고    scopus 로고
    • Two dominant mutations in the mouse Fused gene are the result of transposon insertions
    • Vasicek, T.J., Zeng, L., Guan, X.-J., Zhang, T., Costantini, F. and Tilghman, S.M. (1997) Two dominant mutations in the mouse Fused gene are the result of transposon insertions. Genetics, 147, 777-786.
    • (1997) Genetics , vol.147 , pp. 777-786
    • Vasicek, T.J.1    Zeng, L.2    Guan, X.-J.3    Zhang, T.4    Costantini, F.5    Tilghman, S.M.6
  • 25
    • 0031770826 scopus 로고    scopus 로고
    • Intracisternal A-particle element transposition into the murine beta-glucuronidase gene correlates with loss of enzyme activity: A new model for beta-glucuronidase deficiency in the C3H mouse
    • Gwynn, B., Lueders, K., Sands, M.S. and Birkenmeier, E.H. (1998) Intracisternal A-particle element transposition into the murine beta-glucuronidase gene correlates with loss of enzyme activity: a new model for beta-glucuronidase deficiency in the C3H mouse. Mol. Cell. Biol., 18, 6474-6481.
    • (1998) Mol. Cell. Biol. , vol.18 , pp. 6474-6481
    • Gwynn, B.1    Lueders, K.2    Sands, M.S.3    Birkenmeier, E.H.4
  • 26
    • 0029953417 scopus 로고    scopus 로고
    • Pax2 contributes to inner ear patterning and optic nerve trajectory
    • Torres, N., Gomezpardo, E. and Grass, P. (1996) Pax2 contributes to inner ear patterning and optic nerve trajectory. Development, 122, 3381-3391.
    • (1996) Development , vol.122 , pp. 3381-3391
    • Torres, N.1    Gomezpardo, E.2    Grass, P.3
  • 28
    • 0027355585 scopus 로고
    • A Macintosh program for storage and analysis of experimental genetic mapping data
    • Manly, K.F. (1993) A Macintosh program for storage and analysis of experimental genetic mapping data. Mamm. Genome, 4, 303-313.
    • (1993) Mamm. Genome , vol.4 , pp. 303-313
    • Manly, K.F.1
  • 29
    • 0027392717 scopus 로고
    • Genetics of age-related hearing loss in mice: I. Inbred and F1 hybrid strains
    • Erway, L.C., Willott, J.F., Archer, J.R. and Harrison, D.E. (1993) Genetics of age-related hearing loss in mice: I. Inbred and F1 hybrid strains. Hear. Res., 65, 125-132.
    • (1993) Hear. Res. , vol.65 , pp. 125-132
    • Erway, L.C.1    Willott, J.F.2    Archer, J.R.3    Harrison, D.E.4
  • 30
    • 0026608274 scopus 로고
    • Chromosomal localization of the murine gene and two related sequences encoding high-mobility-group I and Y proteins
    • Johnson, K.R., Cook, S.A. and Davisson, M.T. (1992) Chromosomal localization of the murine gene and two related sequences encoding high-mobility-group I and Y proteins. Genomics, 12, 503-509.
    • (1992) Genomics , vol.12 , pp. 503-509
    • Johnson, K.R.1    Cook, S.A.2    Davisson, M.T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.