메뉴 건너뛰기




Volumn 110, Issue 6, 2002, Pages 527-531

Nonsyndromic recessive deafness DFNB18 and usher syndrome type IC are allelic mutations of USHIC

Author keywords

[No Author keywords available]

Indexed keywords

'HARMONIN'; CHROMOSOME PROTEIN; MESSENGER RNA; MYOSIN; MYOSIN VIIA; UNCLASSIFIED DRUG;

EID: 0036626684     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-002-0732-4     Document Type: Article
Times cited : (127)

References (27)
  • 5
    • 0025062203 scopus 로고
    • An intron mutation in the haman alpha 1(I) collagen gene alters the efficiency of pre-mRNA splicing and is associated with osteogenesis imperfecta type II
    • Bonadio J, Ramirez F, Barr M (1990) An intron mutation in the haman alpha (1)I collagen gene alters the efficiency of pre-mRNA splicing and is associated with osteogenesis imperfecta type II. J Biol Chem 265:2262-2268
    • (1990) J Biol Chem , vol.265 , pp. 2262-2268
    • Bonadio, J.1    Ramirez, F.2    Barr, M.3
  • 7
    • 0026497827 scopus 로고
    • Heterozygosity for the IVS-I-5 (G→C) mutation with a G→A change at codon 18 (Val→Met; Hb Baden) in cis and a T→G mutation at codon 126 (Val→Gly; Hb Dhonburi) in trans resulting in a thalassemia intermedia
    • Divoky V, Bisse E, Wilson JB, Gu LH, Wieland H, Heinrichs I, Prior JF, Huisman TH (1992) Heterozygosity for the IVS-I-5 (G→C) mutation with a G→A change at codon 18 (Val→Met; Hb Baden) in cis and a T→G mutation at codon 126 (Val→Gly; Hb Dhonburi) in trans resulting in a thalassemia intermedia. Biochim Biophys Acta 1180:173-179
    • (1992) Biochim Biophys Acta , vol.1180 , pp. 173-179
    • Divoky, V.1    Bisse, E.2    Wilson, J.B.3    Gu, L.H.4    Wieland, H.5    Heinrichs, I.6    Prior, J.F.7    Huisman, T.H.8
  • 8
    • 0027299332 scopus 로고
    • Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I
    • Grompe M, Al-Dhalimy M (1993) Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I. Hum Mutat 2:85-93
    • (1993) Hum Mutat , vol.2 , pp. 85-93
    • Grompe, M.1    Al-Dhalimy, M.2
  • 10
    • 0032104235 scopus 로고    scopus 로고
    • A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene
    • Jain PK, Lalwani AK, Li XC, Singleton TL, Smith TN, Chen A, Deshmukh D, Verma IC, Smith RJ, Wilcox ER (1998) A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene. Genomics 50:290-292
    • (1998) Genomics , vol.50 , pp. 290-292
    • Jain, P.K.1    Lalwani, A.K.2    Li, X.C.3    Singleton, T.L.4    Smith, T.N.5    Chen, A.6    Deshmukh, D.7    Verma, I.C.8    Smith, R.J.9    Wilcox, E.R.10
  • 11
    • 0028226978 scopus 로고
    • Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11
    • Keats BJ, Nouri N, Pelias MZ, Deininger PL, Litt M (1994) Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11. Am J Hum Genet 54:681-686
    • (1994) Am J Hum Genet , vol.54 , pp. 681-686
    • Keats, B.J.1    Nouri, N.2    Pelias, M.Z.3    Deininger, P.L.4    Litt, M.5
  • 12
    • 0031841951 scopus 로고    scopus 로고
    • Molecular characterization of beta-thalassemia in Pakistan
    • Khan SN, Riazuddin S (1998) Molecular characterization of beta-thalassemia in Pakistan. Hemoglobin 22:333-345
    • (1998) Hemoglobin , vol.22 , pp. 333-345
    • Khan, S.N.1    Riazuddin, S.2
  • 13
    • 0034704201 scopus 로고    scopus 로고
    • Human Upf proteins target an mRNA for nonsense-mediated decay when bound downstream of a termination codon
    • Lykke-Andersen J, Shu MD, Steitz JA (2000) Human Upf proteins target an mRNA for nonsense-mediated decay when bound downstream of a termination codon. Cell 103:1121-1131
    • (2000) Cell , vol.103 , pp. 1121-1131
    • Lykke-Andersen, J.1    Shu, M.D.2    Steitz, J.A.3
  • 14
    • 0029835707 scopus 로고    scopus 로고
    • Defects in RNA splicing and the consequence of shortened translational reading frames
    • Maquat LE (1996) Defects in RNA splicing and the consequence of shortened translational reading frames. Am J Hum Genet 59:279-286
    • (1996) Am J Hum Genet , vol.59 , pp. 279-286
    • Maquat, L.E.1
  • 15
    • 18244409133 scopus 로고    scopus 로고
    • A multi-center study in order to further define the molecular basis of beta-thalassemia in Thailand, Pakistan, Sri Lanka, Mauritius, Syria, and India, and to develop a simple molecular diagnostic strategy by amplification refractory mutation system-polymerase chain reaction
    • Old JM, Khan SN, Verma I, Fucharoen S, Kleanthous M, Ioannou P, Kotea N, Fisher C, Riazuddin S, Saxena R, Winichagoon P, Kyriacou K, Al-Quobaili F, Khan B (2001) A multi-center study in order to further define the molecular basis of beta-thalassemia in Thailand, Pakistan, Sri Lanka, Mauritius, Syria, and India, and to develop a simple molecular diagnostic strategy by amplification refractory mutation system-polymerase chain reaction. Hemoglobin 25:397-407
    • (2001) Hemoglobin , vol.25 , pp. 397-407
    • Old, J.M.1    Khan, S.N.2    Verma, I.3    Fucharoen, S.4    Kleanthous, M.5    Ioannou, P.6    Kotea, N.7    Fisher, C.8    Riazuddin, S.9    Saxena, R.10    Winichagoon, P.11    Kyriacou, K.12    Al-Quobaili, F.13    Khan, B.14
  • 17
    • 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
  • 18
    • 0026072398 scopus 로고
    • The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I: Heterogeneity and founder effects
    • Reitsma PH, Poort SR, Allaart CF, Briet E, Bertina RM (1991) The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I: Heterogeneity and founder effects. Blood 78:890-894
    • (1991) Blood , vol.78 , pp. 890-894
    • Reitsma, P.H.1    Poort, S.R.2    Allaart, C.F.3    Briet, E.4    Bertina, R.M.5
  • 19
    • 0036357665 scopus 로고    scopus 로고
    • The USH1C 216G→A mutation and the 9-repeat VNTR(t,t) allele are in complete linkage disequilibrium in the Acadian population
    • Savas S, Frischhertz B, Pelias MZ, Batzer MA, Deininger PL, Keats BJB (2002) The USH1C 216G→A mutation and the 9-repeat VNTR(t,t) allele are in complete linkage disequilibrium in the Acadian population. Hum Genet 110:95-97
    • (2002) Hum Genet , vol.110 , pp. 95-97
    • Savas, S.1    Frischhertz, B.2    Pelias, M.Z.3    Batzer, M.A.4    Deininger, P.L.5    Keats, B.J.B.6
  • 23
    • 0020620321 scopus 로고
    • Specific transcription and RNA splicing defects in five cloned beta-thalassaemia genes
    • Treisman R, Orkin SH, Maniatis T (1983) Specific transcription and RNA splicing defects in five cloned beta-thalassaemia genes. Nature 302:591-596
    • (1983) Nature , vol.302 , pp. 591-596
    • Treisman, R.1    Orkin, S.H.2    Maniatis, T.3
  • 26
    • 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, Levy G, Levi-Acobas F, Drira M, Ayadi H, Petit C (1997) The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. Nat Genet 16:191-193
    • (1997) Nat Genet , vol.16 , pp. 191-193
    • Weil, D.1    Kussel, P.2    Blanchard, S.3    Levy, G.4    Levi-Acobas, F.5    Drira, M.6    Ayadi, H.7    Petit, C.8
  • 27
    • 0035175198 scopus 로고    scopus 로고
    • Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis
    • Zwaenepoel I, Verpy E, Blanchard S, Meins M, Apfelstedt-Sylla E, Gal A, Petit C (2001) Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis. Hum Mutat 17:34-41
    • (2001) Hum Mutat , vol.17 , pp. 34-41
    • Zwaenepoel, I.1    Verpy, E.2    Blanchard, S.3    Meins, M.4    Apfelstedt-Sylla, E.5    Gal, A.6    Petit, C.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.