메뉴 건너뛰기




Volumn 79, Issue 6, 2011, Pages 594-598

DFNB93, a novel locus for autosomal recessive moderate-to-severe hearing impairment

Author keywords

[No Author keywords available]

Indexed keywords

EDETIC ACID; GENOMIC DNA;

EID: 79955578778     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01593.x     Document Type: Letter
Times cited : (24)

References (27)
  • 1
    • 0036363375 scopus 로고    scopus 로고
    • The Colorado newborn hearing screening project, 1992-1999: on the threshold of effective population-based universal newborn hearing screening.
    • Mehl AL, Thomson V. The Colorado newborn hearing screening project, 1992-1999: on the threshold of effective population-based universal newborn hearing screening. Pediatrics 2002: 109 (1): E7.
    • (2002) Pediatrics , vol.109 , Issue.1
    • Mehl, A.L.1    Thomson, V.2
  • 2
    • 0038238367 scopus 로고    scopus 로고
    • Distinctive audiometric profile associated with DFNB21 alleles of TECTA.
    • Naz S, Alasti F, Mowjoodi A et al. Distinctive audiometric profile associated with DFNB21 alleles of TECTA. J Med Genet 2003: 40 (5): 360-363.
    • (2003) J Med Genet , vol.40 , Issue.5 , pp. 360-363
    • Naz, S.1    Alasti, F.2    Mowjoodi, A.3
  • 3
    • 37649020614 scopus 로고    scopus 로고
    • A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families.
    • Alasti F, Sanati MH, Behrouzifard AH et al. A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families. Int J Pediatr Otorhinolaryngol 2008: 72 (2): 249-255.
    • (2008) Int J Pediatr Otorhinolaryngol , vol.72 , Issue.2 , pp. 249-255
    • Alasti, F.1    Sanati, M.H.2    Behrouzifard, A.H.3
  • 4
    • 0035680324 scopus 로고    scopus 로고
    • The HUGO Gene Nomenclature Committee (HGNC).
    • Povey S, Lovering R, Bruford E et al. The HUGO Gene Nomenclature Committee (HGNC). Hum Genet 2001: 109 (6): 678-680.
    • (2001) Hum Genet , vol.109 , Issue.6 , pp. 678-680
    • Povey, S.1    Lovering, R.2    Bruford, E.3
  • 5
    • 0024427198 scopus 로고
    • A simple and efficient non-organic procedure for the isolation of genomic DNA from blood.
    • Grimberg J, Nawoschik S, Belluscio L et al. A simple and efficient non-organic procedure for the isolation of genomic DNA from blood. Nucleic Acids Res 1989: 17 (20): 8390.
    • (1989) Nucleic Acids Res , vol.17 , Issue.20 , pp. 8390
    • Grimberg, J.1    Nawoschik, S.2    Belluscio, L.3
  • 6
    • 13844266053 scopus 로고    scopus 로고
    • easyLINKAGE: a PERL script for easy and automated two-/multi-point linkage analyses.
    • Lindner TH, Hoffmann K. easyLINKAGE: a PERL script for easy and automated two-/multi-point linkage analyses. Bioinformatics 2005: 21 (3): 405-407.
    • (2005) Bioinformatics , vol.21 , Issue.3 , pp. 405-407
    • Lindner, T.H.1    Hoffmann, K.2
  • 7
    • 0029945706 scopus 로고    scopus 로고
    • Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics.
    • Sobel E, Lange K. Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics. Am J Hum Genet 1996: 58 (6): 1323-1337.
    • (1996) Am J Hum Genet , vol.58 , Issue.6 , pp. 1323-1337
    • Sobel, E.1    Lange, K.2
  • 8
    • 33845985328 scopus 로고    scopus 로고
    • Signatures from tissue-specific MPSS libraries identify transcripts preferentially expressed in the mouse inner ear.
    • Peters LM, Belyantseva IA, Lagziel A et al. Signatures from tissue-specific MPSS libraries identify transcripts preferentially expressed in the mouse inner ear. Genomics 2007: 89 (2): 197-206.
    • (2007) Genomics , vol.89 , Issue.2 , pp. 197-206
    • Peters, L.M.1    Belyantseva, I.A.2    Lagziel, A.3
  • 9
    • 0035985507 scopus 로고    scopus 로고
    • Gene discovery in the auditory system: characterization of additional cochlear-expressed sequences.
    • Resendes BL, Robertson NG, Szustakowski JD et al. Gene discovery in the auditory system: characterization of additional cochlear-expressed sequences. J Assoc Res Otolaryngol 2002: 3 (1): 45-53.
    • (2002) J Assoc Res Otolaryngol , vol.3 , Issue.1 , pp. 45-53
    • Resendes, B.L.1    Robertson, N.G.2    Szustakowski, J.D.3
  • 10
    • 48449097800 scopus 로고    scopus 로고
    • ENDEAVOUR update: a web resource for gene prioritization in multiple species.
    • Web Server issue
    • Tranchevent LC, Barriot R, Yu S et al. ENDEAVOUR update: a web resource for gene prioritization in multiple species. Nucleic Acids Res 2008: 36 (Web Server issue): W377-W384.
    • (2008) Nucleic Acids Res , vol.36
    • Tranchevent, L.C.1    Barriot, R.2    Yu, S.3
  • 11
    • 59349118706 scopus 로고    scopus 로고
    • Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?
    • Hilgert N, Smith RJ, Van Camp G. Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics? Mutat Res 2009: 681 (2-3): 189-196.
    • (2009) Mutat Res , vol.681 , Issue.2-3 , pp. 189-196
    • Hilgert, N.1    Smith, R.J.2    Van Camp, G.3
  • 12
    • 18544381909 scopus 로고    scopus 로고
    • A high-resolution recombination map of the human genome.
    • Kong A, Gudbjartsson DF, Sainz J et al. et al. A high-resolution recombination map of the human genome. Nat Genet 2002: 31 (3): 241-247.
    • (2002) Nat Genet , vol.31 , Issue.3 , pp. 241-247
    • Kong, A.1    Gudbjartsson, D.F.2    Sainz, J.3
  • 13
    • 0029988255 scopus 로고    scopus 로고
    • A metric map of humans: 23,500 loci in 850 bands.
    • Collins A et al. A metric map of humans: 23, 500 loci in 850 bands. Proc Natl Acad Sci U S A 1996: 93 (25): 14771-14775.
    • (1996) Proc Natl Acad Sci U S A , vol.93 , Issue.25 , pp. 14771-14775
    • Collins, A.1
  • 14
    • 2342436150 scopus 로고    scopus 로고
    • Cofilin promotes actin polymerization and defines the direction of cell motility.
    • Ghosh M, Song X, Mouneimne G et al. Cofilin promotes actin polymerization and defines the direction of cell motility. Science 2004: 304 (5671): 743-746.
    • (2004) Science , vol.304 , Issue.5671 , pp. 743-746
    • Ghosh, M.1    Song, X.2    Mouneimne, G.3
  • 15
    • 54549117918 scopus 로고    scopus 로고
    • Dynamic length regulation of sensory stereocilia.
    • Manor U, Kachar B. Dynamic length regulation of sensory stereocilia. Semin Cell Dev Biol 2008: 19 (6): 502-510.
    • (2008) Semin Cell Dev Biol , vol.19 , Issue.6 , pp. 502-510
    • Manor, U.1    Kachar, B.2
  • 16
    • 33744988126 scopus 로고    scopus 로고
    • Deafness associated changes in expression of two-pore domain potassium channels in the rat cochlear nucleus.
    • Holt AG et al. Deafness associated changes in expression of two-pore domain potassium channels in the rat cochlear nucleus. Hear Res 2006: 216-217: 146-153
    • (2006) Hear Res , vol.216-217 , pp. 146-153
    • Holt, A.G.1
  • 17
    • 13844303837 scopus 로고    scopus 로고
    • NF-kappaB pathway protects cochlear hair cells from aminoglycoside-induced ototoxicity.
    • Jiang H, Sha SH, Schacht J. NF-kappaB pathway protects cochlear hair cells from aminoglycoside-induced ototoxicity. J Neurosci Res 2005: 79 (5): 644-651.
    • (2005) J Neurosci Res , vol.79 , Issue.5 , pp. 644-651
    • Jiang, H.1    Sha, S.H.2    Schacht, J.3
  • 18
    • 33947380599 scopus 로고    scopus 로고
    • A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2-q13.4.
    • Kalay E, Caylan R, Kiroglu AF et al. A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2-q13.4. J Mol Med 2007: 85 (4): 397-404.
    • (2007) J Mol Med , vol.85 , Issue.4 , pp. 397-404
    • Kalay, E.1    Caylan, R.2    Kiroglu, A.F.3
  • 19
    • 34047244525 scopus 로고    scopus 로고
    • Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB63 to chromosome 11q13.3-q13.4.
    • Tlili A, Masmoudi S, Dhouib H et al. Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB63 to chromosome 11q13.3-q13.4. Ann Hum Genet 2007: 71 (Pt 2): 271-275.
    • (2007) Ann Hum Genet , vol.71 , Issue.PART 2 , pp. 271-275
    • Tlili, A.1    Masmoudi, S.2    Dhouib, H.3
  • 20
    • 33846386029 scopus 로고    scopus 로고
    • Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3.
    • Khan SY, Riazuddin S, Tariq M et al. Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3. Hum Genet 2007: 120 (6): 789-793.
    • (2007) Hum Genet , vol.120 , Issue.6 , pp. 789-793
    • Khan, S.Y.1    Riazuddin, S.2    Tariq, M.3
  • 21
    • 84984930451 scopus 로고    scopus 로고
    • Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans.
    • Ahmed ZM, Masmoudi S, Kalay E et al. Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. Nat Genet 2008: 40 (11): 1335-1340.
    • (2008) Nat Genet , vol.40 , Issue.11 , pp. 1335-1340
    • Ahmed, Z.M.1    Masmoudi, S.2    Kalay, E.3
  • 22
    • 33744455727 scopus 로고    scopus 로고
    • A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation.
    • Plantinga RF, De Brouwer AP, Huygen PL et al. A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation. J Assoc Res Otolaryngol 2006: 7 (2): 173-181.
    • (2006) J Assoc Res Otolaryngol , vol.7 , Issue.2 , pp. 173-181
    • Plantinga, R.F.1    De Brouwer, A.P.2    Huygen, P.L.3
  • 23
    • 4444237227 scopus 로고    scopus 로고
    • A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations.
    • Pfister M, Thiele H, Van Camp G et al. A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations. Cell Physiol Biochem 2004: 14 (4-6): 369-376.
    • (2004) Cell Physiol Biochem , vol.14 , Issue.4-6 , pp. 369-376
    • Pfister, M.1    Thiele, H.2    Van Camp, G.3
  • 24
    • 56749117987 scopus 로고    scopus 로고
    • Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer.
    • Collin RW, de Heer AM, Oostrik J et al. Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer. Eur J Hum Genet 2008: 16 (12): 1430-1436.
    • (2008) Eur J Hum Genet , vol.16 , Issue.12 , pp. 1430-1436
    • Collin, R.W.1    de Heer, A.M.2    Oostrik, J.3
  • 25
    • 63449091205 scopus 로고    scopus 로고
    • Flat threshold and mid-frequency hearing impairment in a Dutch DFNA8/12 family with a novel mutation in TECTA. Some evidence for protection of the inner ear.
    • de Heer AR, Pauw RJ, Huygen PL et al. Flat threshold and mid-frequency hearing impairment in a Dutch DFNA8/12 family with a novel mutation in TECTA. Some evidence for protection of the inner ear. Audiol Neurootol 2008: 14 (3): 153-162.
    • (2008) Audiol Neurootol , vol.14 , Issue.3 , pp. 153-162
    • de Heer, A.R.1    Pauw, R.J.2    Huygen, P.L.3
  • 26
    • 34447260934 scopus 로고    scopus 로고
    • Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus.
    • Meyer NC, Alasti F, Nishimura CJ et al. Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus. Am J Med Genet A 2007: 143A (14): 1623-1629.
    • (2007) Am J Med Genet A , vol.143 A , Issue.14 , pp. 1623-1629
    • Meyer, N.C.1    Alasti, F.2    Nishimura, C.J.3
  • 27
    • 0032977996 scopus 로고    scopus 로고
    • An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21.
    • Mustapha M, Weil D, Chardenoux S et al. An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21. Hum Mol Genet 1999: 8 (3): 409-412.
    • (1999) Hum Mol Genet , vol.8 , Issue.3 , pp. 409-412
    • Mustapha, M.1    Weil, D.2    Chardenoux, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.