| 1 | MT-CO2, MTDFN1
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| Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss.
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| Gutiérrez Cortés N, Pertuiset C, Dumon E, Börlin M, Hebert-Chatelain E, Pierron D, Feldmann D, Jonard L, Marlin S, Letellier T, Rocher C.
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| Hum Mutat 33(4):681-9. doi: 10.1002/humu.22023. Epub 2012 Feb 14. 2012
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| 2 | MTDFN1, TRNH
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| Maternally transmitted late-onset non-syndromic deafness is associated with the novel heteroplasmic T12201C mutation in the mitochondrial tRNAHis gene.
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| Yan X, Wang X, Wang Z, Sun S, Chen G, He Y, Mo JQ, Li R, Jiang P, Lin Q, Sun M, Li W, Bai Y, Zhang J, Zhu Y, Lu J, Yan Q, Li H, Guan MX.
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| J Med Genet 48(10):682-90. doi: 10.1136/jmedgenet-2011-100219.
2011
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| 3 | MTDFN1
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| Phenotypic expression of maternally inherited deafness is affected by RNA modification and cytoplasmic ribosomal proteins.
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| Bykhovskaya Y, Mengesha E, Fischel-Ghodsian N.
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| Mol Genet Metab 97(4):297-304. Epub 2009 May 13.
2009
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| 4 | MTDFN1
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| A mutation in mitochondrial 12S rRNA, A827G, in Argentinean family with hearing loss after aminoglycoside treatment.
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| Chaig MR, Zernotti ME, Soria NW, Romero OF, Romero MF, Gerez NM.
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| Biochem Biophys Res Commun 368(3):631-6. Epub 2008 Feb 7. 2008
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| 5 | MTDFN1
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| Mitochondrial deafness alleles confer misreading of the genetic code.
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| Hobbie SN, Bruell CM, Akshay S, Kalapala SK, Shcherbakov D, Bšttger EC.
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| Proc Natl Acad Sci U S A 105(9):3244-9. Epub 2008 Feb 28. 2008
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| 6 | MTDFN1
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| New polymorphic mtDNA restriction site in the 12S rRNA gene detected in Tunisian patients with non-syndromic hearing loss.
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| Mkaouar-Rebai E, Tlili A, Masmoudi S, Charfeddine I, Fakhfakh F.
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| Biochem Biophys Res Commun 369(3):849-52. Epub 2008 Mar 4. 2008
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| 7 | MTDFN1
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| The mitochondrial tRNA(Ala) T5628C variant may have a modifying role in the phenotypic manifestation of the 12S rRNA C1494T mutation in a large Chinese family with hearing loss.
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| Han D, Dai P, Zhu Q, Liu X, Huang D, Yuan Y, Yuan H, Wang X, Qian Y, Young WY, Guan MX.
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| Biochem Biophys Res Commun 357(2):554-60. Epub 2007 Apr 9. 2007
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| 8 | TRMU, MTDFN1
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| Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations.
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| Guan MX, Yan Q, Li X, Bykhovskaya Y, Gallo-Teran J, Hajek P, Umeda N, Zhao H, Garrido G, Mengesha E, Suzuki T, del Castillo I, Peters JL, Li R, Qian Y, Wang X, Ballana E, Shohat M, Lu J, Estivill X, Watanabe K, Fischel-Ghodsian N.
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| Am J Hum Genet 79(2):291-302. Epub 2006 Jun 22. 2006
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| 9 | TRMU, MTDFN1
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| Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations.
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| Yan Q, Bykhovskaya Y, Li R, Mengesha E, Shohat M, Estivill X, Fischel-Ghodsian N, Guan MX.
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| Biochem Biophys Res Commun 342(4):1130-6. Epub 2006 Feb 23. 2006
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| 10 | MTDFN1
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| Clinical and molecular analysis of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss associated with the mitochondrial 12S rRNA C1494T mutation.
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| Wang Q, Li QZ, Han D, Zhao Y, Zhao L, Qian Y, Yuan H, Li R, Zhai S, Young WY, Guan MX.
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| Biochem Biophys Res Commun 340(2):583-8. Epub 2005 Dec 19. 2006
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| 11 | MTDFN1
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| Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment.
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| Jacobs HT, Hutchin TP, Kappi T, Gillies G, Minkkinen K, Walker J, Thompson K, Rovio AT, Carella M, Melchionda S, Zelante L, Gasparini P, Pyykko I, Shah ZH, Zeviani M, Mueller RF.
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| Eur J Hum Genet 13(1):26-33. 2005
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| 12 | MTDFN1
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| Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss.
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| Li Z, Li R, Chen J, Liao Z, Zhu Y, Qian Y, Xiong S, Heman-Ackah S, Wu J, Choo DI, Guan MX.
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| Hum Genet 117(1):9-15. Epub 2005 Apr 20. 2005
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| 13 | MTDFN1
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| Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation.
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| Young WY, Zhao L, Qian Y, Wang Q, Li N, Greinwald JH Jr, Guan MX.
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| Biochem Biophys Res Commun 328(4):1244-51. 2005
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| 14 | MTDFN1
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| Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family.
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| Zhao H, Li R, Wang Q, Yan Q, Deng JH, Han D, Bai Y, Young WY, Guan MX.
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| Am J Hum Genet 74(1):139-52. Epub 2003 Dec 12. 2004
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| 15 | MTDFN1
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| Molecular analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in paediatric subjects with non-syndromic hearing loss.
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| Li R, Greinwald JH Jr, Yang L, Choo DI, Wenstrup RJ, Guan MX.
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| J Med Genet 41(8):615-20. No abstract available. 2004
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| 16 | MTDFN1
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| Pathogenesis of the deafness-associated A1555G mitochondrial DNA mutation.
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| Giordano C, Pallotti F, Walker WF, Checcarelli N, Musumeci O, Santorelli F, d'Amati G, Schon EA, DiMauro S, Hirano M, Davidson MM.
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| Biochem Biophys Res Commun 293(1):521-9. 2002
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| 17 | MTDFN1
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| Maternally inherited deafness associated with a T1095C mutation in the mDNA.
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| Tessa A, Giannotti A, Tieri L, Vilarinho L, Marotta G, Santorelli FM.
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| Eur J Hum Genet 9(2):147-9. 2001
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| 18 | MTDFN1
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| Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation.
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| Guan MX, Fischel-Ghodsian N, Attardi G.
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| Hum Mol Genet 10(6):573-80. 2001
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| 19 | MTDFN1
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| A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity.
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| Guan MX, Fischel-Ghodsian N, Attardi G.
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| Hum Mol Genet 9(12):1787-93. 2000
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| 20 | MTDFN1
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| Sensorineural hearing loss and the 1555G mitochondrial DNA mutation.
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| Hutchin T.
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| Acta Otolaryngol (Stockh) 119(1):48-52. 1999
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| 21 | MTDFN1
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| The A1555G Mutation in the 12S rRNA Gene of Human mtDNA: Recurrent Origins and Founder Events in Families Affected by Sensorineural Deafness.
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| Torroni A, Cruciani F, Rengo C, Sellitto D, Lopez-Bigas N, Rabionet R, Govea N, Lopez De Munain A, Sarduy M, Romero L, Villamar M, del Castillo I, Moreno F, Estivill X, Scozzari R.
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| Am J Hum Genet 65(5):1349-1358 1999
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| 22 | MTDFN1
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| Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment with aminoglycosides.
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| Estivill X, Govea N, Barcelo E, Badenas C, Romero E, Moral L, Scozzri R, D'Urbano L, Zeviani M, Torroni A.
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| Am J Hum Genet 62(1):27-35. 1998
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| 23 | MTDFN1
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| Phylogenetic analysis of mitochondrial DNA in Japanese pedigrees of sensorineural hearing loss associated with the A1555G mutation.
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| Abe S, et al.
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| Eur J Hum Genet 6 : 563-569. 1998
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| 24 | MTDFN1
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| Mutation in the mitochondrial 12S rRNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity.
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| Pandya A, et al.
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| J Med Genet 34 : 169-172. 1997
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| 25 | MTDFN1
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| Audiologic features of hearing loss due to the 1,555 mutation of mitochondrial DNA.
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| Tsuiki T, Murai K, Murai S, Kitamura K, Tamagawa Y.
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| Ann Otol Rhinol Laryngol 106(8):643-8. 1997
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| 26 | MTDFN1
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| Familial streptomycin ototoxicity in a South African family : a mitochondrial disorder.
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| Gardner JC, Goliath R, Viljoen D, Sellars S, Cortopassi G, Hutchin T, Greenberg J, Beighton P.
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| J Med Genet 34(11):904-6. 1997
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| 27 | MTDFN1
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| Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation.
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| Guan MX, et al.
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| Hum Mol Genet 5 : 963-971. 1996
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| 28 | MTDFN1
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| Non-syndromic deafness associated with a mutation and a polymorphism in the mitochondrial 12S ribosomal RNA gene in a large Zairean pedigree.
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| Matthijs G, et al.
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| Eur J Hum Genet 4 : 46-51. 1996
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| 29 | MTDFN1, MT-RNR1
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| Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness.
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| Prezant TR, Agapian JV, Bohlman MC, Bu X, Oztas S, Qiu WQ, Arnos KS, Cortopassi GA, Jaber L, Rotter JI, et al.
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| Nat Genet 4(3):289-94. 1993
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| 30 | MTDFN1
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| Genetic aspects of antibiotic induced deafness : mitochondrial inheritance.
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| Hu DN, et al.
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| J Med Genet 28 : 79-83. 1991
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