메뉴 건너뛰기




Volumn 5, Issue , 2012, Pages

In silico modeling of the pore region of a KCNQ4 missense mutant from a patient with hearing loss

Author keywords

Channel; Deafness; Electrostatic; Hearing loss; Molecular Modeling; Mutation; Potassium; Structure

Indexed keywords

KCNQ4 PROTEIN, HUMAN; POTASSIUM CHANNEL KCNQ;

EID: 84858125876     PISSN: None     EISSN: 17560500     Source Type: Journal    
DOI: 10.1186/1756-0500-5-145     Document Type: Article
Times cited : (12)

References (34)
  • 1
    • 14744282666 scopus 로고    scopus 로고
    • Sensorineural hearing loss in children
    • DOI 10.1016/S0140-6736(05)71047-3
    • Sensorineural hearing loss in children. Smith RJ, Bale JF Jr, White KR, Lancet 2005 365 879 890 10.1016/S0140-6736(05)71047-3 15752533 (Pubitemid 40332167)
    • (2005) Lancet , vol.365 , Issue.9462 , pp. 879-890
    • Smith, R.J.H.1    Bale Jr., J.F.2    White, K.R.3
  • 2
    • 33646706079 scopus 로고    scopus 로고
    • Newborn hearing screening - A silent revolution
    • DOI 10.1056/NEJMra050700
    • Newborn hearing screening-a silent revolution. Morton CC, Nance WE, N Engl J Med 2006 354 2151 2164 10.1056/NEJMra050700 16707752 (Pubitemid 43736615)
    • (2006) New England Journal of Medicine , vol.354 , Issue.20 , pp. 2151-2164
    • Morton, C.C.1    Nance, W.E.2
  • 3
    • 34547749906 scopus 로고    scopus 로고
    • Clinical aspects of hereditary hearing loss
    • DOI 10.1097/GIM.0b013e3180980bd0, PII 0012581720070700000001
    • Clinical aspects of hereditary hearing loss. Kochhar A, Hildebrand MS, Smith RJ, Genet Med 2007 9 393 408 10.1097/GIM.0b013e3180980bd0 17666886 (Pubitemid 47224886)
    • (2007) Genetics in Medicine , vol.9 , Issue.7 , pp. 393-408
    • Kochhar, A.1    Hildebrand, M.S.2    Smith, R.J.H.3
  • 5
    • 0033524936 scopus 로고    scopus 로고
    • KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness
    • DOI 10.1016/S0092-8674(00)80556-5
    • KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. Kubisch C, Schroeder BC, Friedrich T, Lütjohann B, El-Amraoui A, Marlin S, Petit C, Jentsch TJ, Cell 1999 96 437 446 10.1016/S0092-8674(00)80556-5 10025409 (Pubitemid 29077597)
    • (1999) Cell , vol.96 , Issue.3 , pp. 437-446
    • Kubisch, C.1    Schroeder, B.C.2    Friedrich, T.3    Lutjohann, B.4    El-Amraoui, A.5    Marlin, S.6    Petit, C.7    Jentsch, T.J.8
  • 6
    • 0034929557 scopus 로고    scopus 로고
    • KCNQ potassium channels: Physiology, pathophysiology, and pharmacology
    • DOI 10.1016/S0163-7258(01)00116-4, PII S0163725801001164
    • KCNQ potassium channels: physiology, pathophysiology, and pharmacology. Robbins J, Pharmacol Ther 2001 90 1 19 10.1016/S0163-7258(01)00116-4 11448722 (Pubitemid 32622837)
    • (2001) Pharmacology and Therapeutics , vol.90 , Issue.1 , pp. 1-19
    • Robbins, J.1
  • 7
    • 12344264009 scopus 로고    scopus 로고
    • Phenotype determination guides swift genotyping of a DFNA2/KCNQ4 family with a hot spot mutation (W276S)
    • DOI 10.1097/00129492-200501000-00009
    • Phenotype determination guides swift genotyping of a DFNA2/KCNQ4 family with a hot spot mutation (W276S). Topsakal V, Pennings RJ, te Brinke H, Hamel B, Huygen PL, Kremer H, Cremers CW, Otol Neurotol 2005 26 52 58 10.1097/00129492-200501000-00009 15699719 (Pubitemid 40130209)
    • (2005) Otology and Neurotology , vol.26 , Issue.1 , pp. 52-58
    • Topsakal, V.1    Pennings, R.J.E.2    Te Brinke, H.3    Hamel, B.4    Huygen, P.L.M.5    Kremer, H.6    Cremers, C.W.R.J.7
  • 8
    • 0034640646 scopus 로고    scopus 로고
    • + channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region
    • 10.1002/1096-8628(20000731)93:3<184: AID-AJMG4>3.0.CO;2-5 10925378
    • + channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region. Van Hauwe P, Coucke PJ, Ensink RJ, Huygen P, Cremers CW, Van Camp G, Am J Med Genet 2000 93 184 187 10.1002/1096-8628(20000731)93:3<184::AID-AJMG4>3.0.CO;2-5 10925378
    • (2000) Am J Med Genet , vol.93 , pp. 184-187
    • Van Hauwe, P.1    Coucke, P.J.2    Ensink, R.J.3    Huygen, P.4    Cremers, C.W.5    Van Camp, G.6
  • 10
    • 77954895219 scopus 로고    scopus 로고
    • Structure of the full-length Shaker potassium channel Kv1.2 by normal-mode-based X-ray crystallographic refinement
    • 10.1073/pnas.1000142107 20534430
    • Structure of the full-length Shaker potassium channel Kv1.2 by normal-mode-based X-ray crystallographic refinement. Chen X, Wang Q, Ni F, Ma J, Proc Natl Acad Sci USA 2010 107 11352 11357 10.1073/pnas.1000142107 20534430
    • (2010) Proc Natl Acad Sci USA , vol.107 , pp. 11352-11357
    • Chen, X.1    Wang, Q.2    Ni, F.3    Ma, J.4
  • 11
    • 36248982122 scopus 로고    scopus 로고
    • + channel in a lipid membrane-like environment
    • DOI 10.1038/nature06265, PII NATURE06265
    • Atomic structure of a voltage-dependent K + channel in a lipid membrane-like environment. Long SB, Tao X, Campbell EB, MacKinnon R, Nature 2007 450 376 382 10.1038/nature06265 18004376 (Pubitemid 350126743)
    • (2007) Nature , vol.450 , Issue.7168 , pp. 376-382
    • Long, S.B.1    Tao, X.2    Campbell, E.B.3    MacKinnon, R.4
  • 12
    • 58149331215 scopus 로고    scopus 로고
    • Determinants within the turret and pore-loop domains of KCNQ3 K + channels governing functional activity
    • 10.1529/biophysj.108.137604 18790849
    • Determinants within the turret and pore-loop domains of KCNQ3 K + channels governing functional activity. Zaika O, Hernandez CC, Bal M, Tolstykh GP, Shapiro MS, Biophys J 2008 95 5121 5137 10.1529/biophysj.108.137604 18790849
    • (2008) Biophys J , vol.95 , pp. 5121-5137
    • Zaika, O.1    Hernandez, C.C.2    Bal, M.3    Tolstykh, G.P.4    Shapiro, M.S.5
  • 13
    • 0030801002 scopus 로고    scopus 로고
    • Gapped BLAST and PSI-BLAST: A new generation of protein database search programs
    • DOI 10.1093/nar/25.17.3389
    • Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. Altschul SF, Madden TL, Schäffer AA, Zhang J, Zhang Z, Miller W, Lipman DJ, Nucleic Acids Res 1997 25 3389 3402 10.1093/nar/25.17.3389 9254694 (Pubitemid 27359211)
    • (1997) Nucleic Acids Research , vol.25 , Issue.17 , pp. 3389-3402
    • Altschul, S.F.1    Madden, T.L.2    Schaffer, A.A.3    Zhang, J.4    Zhang, Z.5    Miller, W.6    Lipman, D.J.7
  • 14
    • 34547873510 scopus 로고    scopus 로고
    • Enhancing the functional annotation of PDB structures in PDBsum using key figures extracted from the literature
    • DOI 10.1093/bioinformatics/btm085
    • Enhancing the functional annotation of PDB structures in PDBsum using key figures extracted from the literature. Laskowski RA, Bioinformatics 2007 23 1824 1827 10.1093/bioinformatics/btm085 17384425 (Pubitemid 47250316)
    • (2007) Bioinformatics , vol.23 , Issue.14 , pp. 1824-1827
    • Laskowski, R.A.1
  • 15
    • 32144432437 scopus 로고    scopus 로고
    • The SWISS-MODEL workspace: A web-based environment for protein structure homology modelling
    • DOI 10.1093/bioinformatics/bti770
    • The SWISS-MODEL Workspace: A web-based environment for protein structure homology modeling. Arnold K, Bordoli L, Kopp J, Schwede T, Bioinformatics 2006 22 195 201 10.1093/bioinformatics/bti770 16301204 (Pubitemid 43205406)
    • (2006) Bioinformatics , vol.22 , Issue.2 , pp. 195-201
    • Arnold, K.1    Bordoli, L.2    Kopp, J.3    Schwede, T.4
  • 17
    • 0029004590 scopus 로고
    • Protein modeling by E-mail
    • 10.1038/nbt0795-658
    • Protein modeling by E-mail. Peitsch MC, Bio/Technology 1995 13 658 660 10.1038/nbt0795-658
    • (1995) Bio/Technology , vol.13 , pp. 658-660
    • Peitsch, M.C.1
  • 18
    • 0025830469 scopus 로고
    • A method to identify protein sequences that fold into a known three-dimensional structure
    • A method to identify protein sequences that fold into a known three-dimensional structure. Bowie JU, Lüthy R, Eisenberg D, Science 1991 253 164 170 10.1126/science.1853201 1853201 (Pubitemid 21917131)
    • (1991) Science , vol.253 , Issue.5016 , pp. 164-170
    • Bowie, J.U.1    Luthy, R.2    Eisenberg, D.3
  • 19
    • 0026610767 scopus 로고
    • Assessment of protein models with three-dimensional profiles
    • 10.1038/356083a0 1538787
    • Assessment of protein models with three-dimensional profiles. Lüthy R, Bowie JU, Eisenberg D, Nature 1992 356 83 85 10.1038/356083a0 1538787
    • (1992) Nature , vol.356 , pp. 83-85
    • Lüthy, R.1    Bowie, J.U.2    Eisenberg, D.3
  • 21
    • 0022192011 scopus 로고
    • Effects of the -helix dipole upon the functioning and structure of proteins and peptides
    • 2424281
    • Effects of the -helix dipole upon the functioning and structure of proteins and peptides. Hol WG, Adv Biophys 1985 19 133 165 2424281
    • (1985) Adv Biophys , vol.19 , pp. 133-165
    • Hol, W.G.1
  • 23
    • 0033516590 scopus 로고    scopus 로고
    • + channel: Electrostatic stabilization of monovalent cations
    • DOI 10.1126/science.285.5424.100
    • + channel: electrostatic stabilization of monovalent cations. Roux B, MacKinnon R, Science 1999 285 100 102 10.1126/science.285.5424.100 10390357 (Pubitemid 29307574)
    • (1999) Science , vol.285 , Issue.5424 , pp. 100-102
    • Roux, B.1    MacKinnon, R.2
  • 24
    • 0037122805 scopus 로고    scopus 로고
    • X-ray structure of a CIC chloride channel at 3.0 A reveals the molecular basis of anion selectivity
    • DOI 10.1038/415287a
    • X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity. Dutzler R, Campbell EB, Cadene M, Chait BT, MacKinnon R, Nature 2002 415 287 294 10.1038/415287a 11796999 (Pubitemid 34087544)
    • (2002) Nature , vol.415 , Issue.6869 , pp. 287-294
    • Dutzler, R.1    Campbell, E.B.2    Cadene, M.3    Chait, B.T.4    MacKinnon, R.5
  • 26
    • 0032508498 scopus 로고    scopus 로고
    • Long-range electrostatic trapping of single-protein molecules at a liquid-solid interface
    • DOI 10.1126/science.281.5383.1650
    • Long-range electrostatic trapping of single-protein molecules at a liquid-solid interface. Xu XH, Yeung ES, Science 1998 281 1650 1653 9733506 (Pubitemid 28435575)
    • (1998) Science , vol.281 , Issue.5383 , pp. 1650-1653
    • Xu, X.-H.N.1    Yeung, E.S.2
  • 27
    • 0037115388 scopus 로고    scopus 로고
    • Dynamics of single-protein molecules at a liquid/solid interface: Implications in capillary electrophoresis and chromatography
    • DOI 10.1021/ac0261202
    • Dynamics of single-protein molecules at a liquid/solid interface: implications in capillary electrophoresis and chromatography. Kang SH, Yeung ES, Anal Chem 2002 74 6334 6339 10.1021/ac0261202 12510756 (Pubitemid 36025180)
    • (2002) Analytical Chemistry , vol.74 , Issue.24 , pp. 6334-6339
    • Kang, S.H.1    Yeung, E.S.2
  • 28
    • 0031020268 scopus 로고    scopus 로고
    • Like-charge attractions in metastable colloidal crystallites
    • DOI 10.1038/385230a0
    • Like-charge attractions in metastable colloidal crystallites. Larsen AE, Grier DG, Nature 1995 385 230 233 (Pubitemid 27043715)
    • (1997) Nature , vol.385 , Issue.6613 , pp. 230-233
    • Larsen, A.E.1    Grier, D.G.2
  • 30
    • 68349085754 scopus 로고    scopus 로고
    • Determination of protein surface excess on a liquid/solid interface by single-molecule counting
    • 10.1007/s00216-009-2888-4
    • Determination of protein surface excess on a liquid/solid interface by single-molecule counting. Li N, Tang H, Gai H, Dong X, Wang Q, Yeung ES, Anal Bioanalytical Chem 2009 394 1879 1885 10.1007/s00216-009-2888-4
    • (2009) Anal Bioanalytical Chem , vol.394 , pp. 1879-1885
    • Li, N.1    Tang, H.2    Gai, H.3    Dong, X.4    Wang, Q.5    Yeung, E.S.6
  • 32
    • 78651402896 scopus 로고    scopus 로고
    • Cellular and molecular mechanisms of autosomal dominant form of progressive hearing loss, DFNA2
    • 10.1074/jbc.M110.179010 20966080
    • Cellular and molecular mechanisms of autosomal dominant form of progressive hearing loss, DFNA2. Kim HJ, Lv P, Sihn CR, Yamoah EN, J Biol Chem 2011 286 1517 1527 10.1074/jbc.M110.179010 20966080
    • (2011) J Biol Chem , vol.286 , pp. 1517-1527
    • Kim, H.J.1    Lv, P.2    Sihn, C.R.3    Yamoah, E.N.4
  • 33
    • 30644460913 scopus 로고    scopus 로고
    • Clinical course of hearing and language development in GJB2 and non-GJB2 deafness following habilitation with hearing aids
    • DOI 10.1159/000089607
    • Clinical course of hearing and language development in GJB2 and non-GJB2 deafness following habilitation with hearing aids. Matsunaga T, Hirota E, Bito S, Niimi S, Usami S, Audiol Neuro 2006 11 59 68 10.1159/000089607 (Pubitemid 43087560)
    • (2006) Audiology and Neurotology , vol.11 , Issue.1 , pp. 59-68
    • Matsunaga, T.1    Hirota, E.2    Bito, S.3    Niimi, S.4    Usami, S.-I.5
  • 34
    • 75149192021 scopus 로고    scopus 로고
    • Value of genetic testing in determination of therapy for auditory disorders
    • 10.2302/kjm.58.216 20037285
    • Value of genetic testing in determination of therapy for auditory disorders. Matsunaga T, Keio J Med 2009 58 216 222 10.2302/kjm.58.216 20037285
    • (2009) Keio J Med , vol.58 , pp. 216-222
    • Matsunaga, T.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.