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TMC1

tmc188, tmc1 my chart
NM_138691

NM_028953

RefSeq protein

NP_619636

NP_083229

Location UCSC Chr 9: 7252 – 7284 Mb Chr 19: 2078 – 2095 Mb PubMed search 1 2 Wikidata
  • ^ "Human PubMed Reference:" 
  • ^ "Mouse PubMed Reference:" 
  • ^ a b c d Kurima K, Peters LM, Yang Y, Riazuddin S, Ahmed ZM, Naz S, Arnaud D, Drury S, Mo J, Makishima T, Ghosh M, Menon PS, Deshmukh D, Oddoux C, Ostrer H, Khan S, Riazuddin S, Deininger PL, Hampton LL, Sullivan SL, Battey JF, Keats BJ, Wilcox ER, Friedman TB, Griffith AJ Mar 2002 "Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function" Nat Genet 30 3: 277–84 PMID 11850618 doi:101038/ng842 
  • ^ a b Vreugde S, Erven A, Kros CJ, Marcotti W, Fuchs H, Kurima K, Wilcox ER, Friedman TB, Griffith AJ, Balling R, Hrabé De Angelis M, Avraham KB, Steel KP 2002 "Beethoven, a mouse model for dominant, progressive hearing loss DFNA36" Nat Genet 30 3: 257–8 PMID 11850623 doi:101038/ng848 
  • ^ a b c "Entrez Gene: TMC1 transmembrane channel-like 1" 
  • ^ Vriens J, Nilius B, Voets T 2014 "Peripheral thermosensation in mammals" Nature Reviews Neuroscience 15 9: 573–89 PMID 25053448 doi:101038/nrn3784 
  • ^ Kawashima Y, Géléoc GS, Kurima K, Labay V, Lelli A, Asai Y, Makishima T, Wu DK, Della Santina CC, Holt JR, Griffith AJ 2011 "Mechanotransduction in mouse inner ear hair cells requires transmembrane channel-like genes" J Clin Invest 121 12: 4796–809 PMC 3223072  PMID 22105175 doi:101172/JCI60405 
  • ^ a b Maeda R, Kindt KS, Mo W, Morgan CP, Erickson T, Zhao H, Clemens-Grisham R, Barr-Gillespie PG, Nicolson T 2014 "Tip-link protein protocadherin 15 interacts with transmembrane channel-like proteins TMC1 and TMC2" Proc Natl Acad Sci USA 111 35: 12907–12 PMC 4156717  PMID 25114259 doi:101073/pnas1402152111 
  • ^ Pan B, Géléoc GS, Asai Y, Horwitz GC, Kurima K, Ishikawa K, Kawashima Y, Griffith AJ, Holt JR 2013 "TMC1 and TMC2 are components of the mechanotransduction channel in hair cells of the mammalian inner ear" Neuron 79 3: 504–15 PMC 3827726  PMID 23871232 doi:101016/jneuron201306019 
  • ^ a b Kitajiri S, Makishima T, Friedman TB, Griffith AJ 2007 "A novel mutation at the DFNA36 hearing loss locus reveals a critical function and potential genotype-phenotype correlation for amino acid-572 of TMC1" Clin Genet 71 2: 148–52 PMID 17250663 doi:101111/j1399-0004200700739x 
  • ^ Gallacher, James 9 July 2015 "Deafness could be treated by virus, say scientists" UK: BBC Retrieved 9 July 2015 
  • ^ Askew, Charles; et al 8 July 2015 "Tmc gene therapy restores auditory function in deaf mice" Science Translational Medicine American Association for the Advancement of Science 7 295: 295ra108 PMID 26157030 doi:101126/scitranslmedaab1996 
  • ^ Riahi Z, Bonnet C, Zainine R, Louha M, Bouyacoub Y, Laroussi N, Chargui M, Kefi R, Jonard L, Dorboz I, Hardelin JP, Salah SB, Levilliers J, Weil D, McElreavey K, Boespflug OT, Besbes G, Abdelhak S, Petit C 2014 "Whole Exome Sequencing Identifies New Causative Mutations in Tunisian Families with Non-Syndromic Deafness" PLoS ONE 9 6: e99797 PMC 4057390  PMID 24926664 doi:101371/journalpone0099797 
  • ^ Duman D, Tekin M 2012 "Autosomal recessive nonsyndromic deafness genes: a review" Front Biosci Landmark Ed 17: 2213–36 PMC 3683827  PMID 22652773 doi:102741/4046 
  • Further readingedit

    • Kitajiri SI, McNamara R, Makishima T, Husnain T, Zafar AU, Kittles RA, Ahmed ZM, Friedman TB, Riazuddin S, Griffith AJ 2008 "Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan" Clin Genet 72 6: 546–50 PMID 17877751 doi:101111/j1399-0004200700895x 
    • Kalay E, Karaguzel A, Caylan R, Heister A, Cremers FP, Cremers CW, Brunner HG, de Brouwer AP, Kremer H 2006 "Four novel TMC1 DFNB7/DFNB11 mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss" Hum Mutat 26 6: 591 PMID 16287143 doi:101002/humu9384 
    • Meyer CG, Gasmelseed NM, Mergani A, Magzoub MM, Muntau B, Thye T, Horstmann RD 2006 "Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree" Hum Mutat 25 1: 100 PMID 15605408 doi:101002/humu9302 
    • Keresztes G, Mutai H, Heller S 2003 "TMC and EVER genes belong to a larger novel family, the TMC gene family encoding transmembrane proteins" BMC Genomics 4: 24 PMC 165604  PMID 12812529 doi:101186/1471-2164-4-24 
    • Scott DA, Carmi R, Elbedour K, Yosefsberg S, Stone EM, Sheffield VC 1996 "An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds" Am J Hum Genet 59 2: 385–91 PMC 1914732  PMID 8755925 
    • Jain PK, Fukushima K, Deshmukh D, Ramesh A, Thomas E, Lalwani AK, Kumar S, Plopis B, Skarka H, Srisailapathy CR 1996 "A human recessive neurosensory nonsyndromic hearing impairment locus is potential homologue of murine deafness dn locus" Hum Mol Genet 4 12: 2391–4 PMID 8634715 doi:101093/hmg/4122391 

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