메뉴 건너뛰기




Volumn 419, Issue 4, 2012, Pages 643-647

Molecular analysis of the TMPRSS3 gene in Moroccan families with non-syndromic hearing loss

Author keywords

Hearing loss; Moroccan population; Polymorphism; TMPRSS3 gene

Indexed keywords

PROTEIN; TMPRSS3 PROTEIN; UNCLASSIFIED DRUG;

EID: 84858754223     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2012.02.066     Document Type: Article
Times cited : (15)

References (31)
  • 2
    • 0033850250 scopus 로고    scopus 로고
    • Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins
    • Rabionet R., Gasparini P., Estivill X. Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins. Hum. Mutat. 2000, 16:190-202.
    • (2000) Hum. Mutat. , vol.16 , pp. 190-202
    • Rabionet, R.1    Gasparini, P.2    Estivill, X.3
  • 3
    • 79954630324 scopus 로고    scopus 로고
    • Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in non syndromic genetic hearing loss in a South African population
    • Kabahuma R.I., Ouyang X., Du L.L., Yan D., Hutchin T., Ramsay M., Penn C., Liu X.Z. Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in non syndromic genetic hearing loss in a South African population. Int. J. Pediatr. Otorhinolaryngol. 2011, 75:611-617.
    • (2011) Int. J. Pediatr. Otorhinolaryngol. , vol.75 , pp. 611-617
    • Kabahuma, R.I.1    Ouyang, X.2    Du, L.L.3    Yan, D.4    Hutchin, T.5    Ramsay, M.6    Penn, C.7    Liu, X.Z.8
  • 4
    • 8744312800 scopus 로고    scopus 로고
    • Hereditary non-syndromic sensorineural hearing loss: transforming silence to sound
    • Schrijver I. Hereditary non-syndromic sensorineural hearing loss: transforming silence to sound. J. Mol. Diagn. 2004, 6:275-284.
    • (2004) J. Mol. Diagn. , vol.6 , pp. 275-284
    • Schrijver, I.1
  • 6
    • 0030070163 scopus 로고    scopus 로고
    • Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan
    • Veske A., Oehlmann R., Younus F., Mohyuddin A., Muller-Myhsok B., Mehdi S.Q., Gal A. Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan. Hum. Mol. Genet. 1996, 5:165-168.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 165-168
    • Veske, A.1    Oehlmann, R.2    Younus, F.3    Mohyuddin, A.4    Muller-Myhsok, B.5    Mehdi, S.Q.6    Gal, A.7
  • 7
    • 69949118724 scopus 로고    scopus 로고
    • Type II transmembrane serine proteases
    • Bugge T.H., Antalis T.M., Wu Q. Type II transmembrane serine proteases. J. Biol. Chem. 2009, 284:23177-23181.
    • (2009) J. Biol. Chem. , vol.284 , pp. 23177-23181
    • Bugge, T.H.1    Antalis, T.M.2    Wu, Q.3
  • 8
    • 0023621284 scopus 로고
    • First cysteine-rich repeat in ligand-binding domain of low density lipoprotein receptor binds Ca2' and monoclonal antibodies, but not lipoproteins
    • van Driel I.R., Goldstein J.L., Sudhof T.C., Brown M.S. First cysteine-rich repeat in ligand-binding domain of low density lipoprotein receptor binds Ca2' and monoclonal antibodies, but not lipoproteins. J. Biol. Chem. 1987, 262:17443-17449.
    • (1987) J. Biol. Chem. , vol.262 , pp. 17443-17449
    • van Driel, I.R.1    Goldstein, J.L.2    Sudhof, T.C.3    Brown, M.S.4
  • 9
    • 0022259920 scopus 로고
    • The LDL receptor gene: a mosaic of exons shared with different proteins
    • Sudhof T.C., Goldstein J.L., Brown M.S., Russell D.W. The LDL receptor gene: a mosaic of exons shared with different proteins. Science 1985, 228:815-822.
    • (1985) Science , vol.228 , pp. 815-822
    • Sudhof, T.C.1    Goldstein, J.L.2    Brown, M.S.3    Russell, D.W.4
  • 10
    • 4043065142 scopus 로고    scopus 로고
    • The scavenger receptor cysteine-rich (SRCR) domain: an ancient and highly, conserved protein module of the innate immune system
    • Sarrias M.R., Gronlund J., Padilla O., Madsen J., Holmskov U., Lozano F. The scavenger receptor cysteine-rich (SRCR) domain: an ancient and highly, conserved protein module of the innate immune system. Crit. Rev. Immunol. 2004, 24:1-37.
    • (2004) Crit. Rev. Immunol. , vol.24 , pp. 1-37
    • Sarrias, M.R.1    Gronlund, J.2    Padilla, O.3    Madsen, J.4    Holmskov, U.5    Lozano, F.6
  • 12
    • 0035167046 scopus 로고    scopus 로고
    • Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness
    • Scott H.S., Kudoh J., Wattenhofer M., Shibuya K., Berry A., Chrast R., Guipponi M., Wang J., Kawasaki K., Asakawa S., et al. Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness. Nat. Genet. 2001, 27:59-63.
    • (2001) Nat. Genet. , vol.27 , pp. 59-63
    • Scott, H.S.1    Kudoh, J.2    Wattenhofer, M.3    Shibuya, K.4    Berry, A.5    Chrast, R.6    Guipponi, M.7    Wang, J.8    Kawasaki, K.9    Asakawa, S.10
  • 13
    • 38449107595 scopus 로고    scopus 로고
    • TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness
    • Guipponi M., Antonarakis S.E., Scott H.S. TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness. Front. Biosci. 2008, 13:1557-1567.
    • (2008) Front. Biosci. , vol.13 , pp. 1557-1567
    • Guipponi, M.1    Antonarakis, S.E.2    Scott, H.S.3
  • 20
    • 28644439243 scopus 로고    scopus 로고
    • Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - Implications for genetic testing
    • Hutchin T., Coy N.N., Conlon H., et al. Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - Implications for genetic testing. Clin. Genet. 2005, 68:506-512.
    • (2005) Clin. Genet. , vol.68 , pp. 506-512
    • Hutchin, T.1    Coy, N.N.2    Conlon, H.3
  • 23
    • 0034191958 scopus 로고    scopus 로고
    • Towards a structural basis of human non-synonymous single nucleotide polymorphisms
    • Sunyaev S., Ramensky V., Bork P. Towards a structural basis of human non-synonymous single nucleotide polymorphisms. Trends Genet. 2000, 16:198-200.
    • (2000) Trends Genet. , vol.16 , pp. 198-200
    • Sunyaev, S.1    Ramensky, V.2    Bork, P.3
  • 24
    • 0032483116 scopus 로고    scopus 로고
    • Folding, calcium binding, and structural characterization of a concatemer of the first and second ligand-binding modules of the low-density lipoprotein receptor
    • Bieri S., Atkins A.R., Lee H.T., Winzor D.J., Smith R., Kroon P.A. Folding, calcium binding, and structural characterization of a concatemer of the first and second ligand-binding modules of the low-density lipoprotein receptor. Biochemistry 1998, 37:10994-11002.
    • (1998) Biochemistry , vol.37 , pp. 10994-11002
    • Bieri, S.1    Atkins, A.R.2    Lee, H.T.3    Winzor, D.J.4    Smith, R.5    Kroon, P.A.6
  • 25
    • 0030759357 scopus 로고    scopus 로고
    • Molecular basis of familial hypercholesterolaemia from structure of LDL receptor module
    • Fass D., Blacklow S., Kim P.S., Berger J.M. Molecular basis of familial hypercholesterolaemia from structure of LDL receptor module. Nature 1997, 388:691-693.
    • (1997) Nature , vol.388 , pp. 691-693
    • Fass, D.1    Blacklow, S.2    Kim, P.S.3    Berger, J.M.4
  • 27
    • 0042327815 scopus 로고    scopus 로고
    • Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3
    • Lee Y.J., Park D., Kim S.Y., Park W.J. Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3. J. Med. Genet. 2003, 40:629-631.
    • (2003) J. Med. Genet. , vol.40 , pp. 629-631
    • Lee, Y.J.1    Park, D.2    Kim, S.Y.3    Park, W.J.4
  • 29
    • 34250807826 scopus 로고    scopus 로고
    • Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings
    • Elbracht M., Senderek J., Eggermann T., Thürmer C., Park J., Westhofen M., Zerres K. Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings. J. Med. Genet. 2007, 44:81.
    • (2007) J. Med. Genet. , vol.44 , pp. 81
    • Elbracht, M.1    Senderek, J.2    Eggermann, T.3    Thürmer, C.4    Park, J.5    Westhofen, M.6    Zerres, K.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.