-
1
-
-
0032434010
-
Phylogenetic analysis of mitochondrial DNA in Japanese pedigrees of sensorineural hearing loss associated with the A1555G mutation
-
Abe S., et al. Phylogenetic analysis of mitochondrial DNA in Japanese pedigrees of sensorineural hearing loss associated with the A1555G mutation. Eur. J. Hum. Genet. 6 (1998) 563-569
-
(1998)
Eur. J. Hum. Genet.
, vol.6
, pp. 563-569
-
-
Abe, S.1
-
2
-
-
0035500580
-
Connexin 26 gene (GJB2) mutation modulates the severity of hearing loss associated with the 1555A→G mitochondrial mutation
-
Abe S., Kelley P.M., Kimberling W.J., and Usami S.I. Connexin 26 gene (GJB2) mutation modulates the severity of hearing loss associated with the 1555A→G mitochondrial mutation. Am. J. Med. Genet. 103 (2001) 334-338
-
(2001)
Am. J. Med. Genet.
, vol.103
, pp. 334-338
-
-
Abe, S.1
Kelley, P.M.2
Kimberling, W.J.3
Usami, S.I.4
-
3
-
-
0032868141
-
Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA
-
Andrews R.M., Kubacka I., Chinnery P.F., Lightowlers R.N., Turnbull D.M., and Howell N. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat. Genet. 23 (1999) 147
-
(1999)
Nat. Genet.
, vol.23
, pp. 147
-
-
Andrews, R.M.1
Kubacka, I.2
Chinnery, P.F.3
Lightowlers, R.N.4
Turnbull, D.M.5
Howell, N.6
-
4
-
-
0019837699
-
Sequence and gene organization of mouse mitochondrial DNA
-
Bibb M.J., Van Etten R.A., Wright C.T., Walberg M.W., and Clayton D.A. Sequence and gene organization of mouse mitochondrial DNA. Cell 26 (1981) 167-180
-
(1981)
Cell
, vol.26
, pp. 167-180
-
-
Bibb, M.J.1
Van Etten, R.A.2
Wright, C.T.3
Walberg, M.W.4
Clayton, D.A.5
-
5
-
-
13444256467
-
MITOMAP: a human mitochondrial genome database-2004 update
-
Brandon M.C., et al. MITOMAP: a human mitochondrial genome database-2004 update. Nucleic Acids Res. 33 (2005) D611-D613
-
(2005)
Nucleic Acids Res.
, vol.33
-
-
Brandon, M.C.1
-
6
-
-
0032486097
-
Evidence for complex nuclear inheritance in a pedigree with nonsyndromic deafness due to a homoplasmic mitochondrial mutation
-
Bykhovskaya Y., et al. Evidence for complex nuclear inheritance in a pedigree with nonsyndromic deafness due to a homoplasmic mitochondrial mutation. Am. J. Med. Genet. 77 (1998) 421-426
-
(1998)
Am. J. Med. Genet.
, vol.77
, pp. 421-426
-
-
Bykhovskaya, Y.1
-
7
-
-
0042828920
-
Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss
-
del Castillo F.J., et al. Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss. J. Med. Genet. 40 (2003) 632-636
-
(2003)
J. Med. Genet.
, vol.40
, pp. 632-636
-
-
del Castillo, F.J.1
-
8
-
-
29244487525
-
Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: implication for early detection and prevention of deafness
-
Dai P., et al. Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: implication for early detection and prevention of deafness. Biochem. Biophys. Res. Commun. 340 (2006) 194-199
-
(2006)
Biochem. Biophys. Res. Commun.
, vol.340
, pp. 194-199
-
-
Dai, P.1
-
9
-
-
17344365276
-
Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment with aminoglycosides
-
Estivill X., et al. Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment with aminoglycosides. Am. J. Hum. Genet. 62 (1998) 27-35
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 27-35
-
-
Estivill, X.1
-
10
-
-
13544261687
-
Genetic factors in aminoglycoside toxicity
-
Fischel-Ghodsian N. Genetic factors in aminoglycoside toxicity. Pharmacogenomics (Lond.) 6 (2005) 27-36
-
(2005)
Pharmacogenomics (Lond.)
, vol.6
, pp. 27-36
-
-
Fischel-Ghodsian, N.1
-
12
-
-
0024352214
-
The complete nucleotide sequence of the Rattus norvegicus mitochondrial genome: cryptic signals revealed by comparative analysis between vertebrates
-
Gadaleta G., Pepe G., De Candia G., Quagliariello C., Sbisa E., and Saccone C. The complete nucleotide sequence of the Rattus norvegicus mitochondrial genome: cryptic signals revealed by comparative analysis between vertebrates. J. Mol. Evol. 28 (1989) 497-516
-
(1989)
J. Mol. Evol.
, vol.28
, pp. 497-516
-
-
Gadaleta, G.1
Pepe, G.2
De Candia, G.3
Quagliariello, C.4
Sbisa, E.5
Saccone, C.6
-
13
-
-
33745043245
-
Prevalence of mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity
-
Guan M.X. Prevalence of mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity. Volta. Rev. 105 (2005) 211-237
-
(2005)
Volta. Rev.
, vol.105
, pp. 211-237
-
-
Guan, M.X.1
-
14
-
-
0030016359
-
Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation
-
Guan M.X., Fischel-Ghodsian N., and Attardi G. Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation. Hum. Mol. Genet. 5 (1996) 963-997
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 963-997
-
-
Guan, M.X.1
Fischel-Ghodsian, N.2
Attardi, G.3
-
15
-
-
0031682732
-
Ser(UCN) precursor processing, has long-range effects on NADH dehydrogenase ND6 subunit gene expression
-
Ser(UCN) precursor processing, has long-range effects on NADH dehydrogenase ND6 subunit gene expression. Mol. Cell Biol. 18 (1998) 5868-5879
-
(1998)
Mol. Cell Biol.
, vol.18
, pp. 5868-5879
-
-
Guan, M.X.1
-
16
-
-
0033858002
-
A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity
-
Guan M.X., Fischel-Ghodsian N., and Attardi G. A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity. Hum. Mol. Genet. 9 (2000) 1787-1793
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 1787-1793
-
-
Guan, M.X.1
Fischel-Ghodsian, N.2
Attardi, G.3
-
17
-
-
0035869153
-
Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation
-
Guan M.X., Fischel-Ghodsian N., and Attardi G. Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation. Hum. Mol. Genet. 10 (2001) 573-580
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 573-580
-
-
Guan, M.X.1
Fischel-Ghodsian, N.2
Attardi, G.3
-
18
-
-
33746559647
-
Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations
-
Guan M.X., et al. Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations. Am. J. Hum. Genet. 79 (2006) 291-302
-
(2006)
Am. J. Hum. Genet.
, vol.79
, pp. 291-302
-
-
Guan, M.X.1
-
19
-
-
34247098543
-
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
-
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. Biochem. Biophys. Res. Commun. 357 (2007) 554-560
-
(2007)
Biochem. Biophys. Res. Commun.
, vol.357
, pp. 554-560
-
-
Han, D.1
-
20
-
-
19944432928
-
Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment
-
Jacobs H.T., et al. Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment. Eur. J. Hum. Genet. 13 (2005) 26-33
-
(2005)
Eur. J. Hum. Genet.
, vol.13
, pp. 26-33
-
-
Jacobs, H.T.1
-
22
-
-
0344167734
-
Cosegregation of C-insertion at position 961 with A1555G mutation of mitochondrial 12S rRNA gene in a large Chinese family with maternally inherited hearing loss
-
Li R., et al. Cosegregation of C-insertion at position 961 with A1555G mutation of mitochondrial 12S rRNA gene in a large Chinese family with maternally inherited hearing loss. Am. J. Med. Genet. 124A (2004) 113-117
-
(2004)
Am. J. Med. Genet.
, vol.124 A
, pp. 113-117
-
-
Li, R.1
-
24
-
-
12844286161
-
Ser(UCN) 7511C mutation in a Japanese family
-
Ser(UCN) 7511C mutation in a Japanese family. Biochem. Biophys. Res. Commun. 328 (2005) 32-37
-
(2005)
Biochem. Biophys. Res. Commun.
, vol.328
, pp. 32-37
-
-
Li, R.1
-
25
-
-
20344407298
-
Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside induced and non-syndromic hearing loss
-
Li Z., et al. Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside induced and non-syndromic hearing loss. Hum. Genet. 117 (2005) 9-15
-
(2005)
Hum. Genet.
, vol.117
, pp. 9-15
-
-
Li, Z.1
-
26
-
-
0029916599
-
Non-syndromic deafness associated with a mutation and a polymorphism in the mitochondrial 12S ribosomal RNA gene in a large Zairean pedigree
-
Matthijs G., Claes S., Longo-Bbenza B., and Cassiman J.-J. Non-syndromic deafness associated with a mutation and a polymorphism in the mitochondrial 12S ribosomal RNA gene in a large Zairean pedigree. Eur. J. Hum. Genet. 4 (1996) 46-51
-
(1996)
Eur. J. Hum. Genet.
, vol.4
, pp. 46-51
-
-
Matthijs, G.1
Claes, S.2
Longo-Bbenza, B.3
Cassiman, J.-J.4
-
27
-
-
0031055387
-
Mutation in the mitochondrial 12S ribosomal-RNA gene in 2 families from Mongolia with matrilineal aminoglycoside ototoxicity
-
Pandya A., et al. Mutation in the mitochondrial 12S ribosomal-RNA gene in 2 families from Mongolia with matrilineal aminoglycoside ototoxicity. J. Med. Genet. 34 (1997) 169-172
-
(1997)
J. Med. Genet.
, vol.34
, pp. 169-172
-
-
Pandya, A.1
-
28
-
-
0027226069
-
Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness
-
Prezant T.R., et al. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat. Genet. 4 (1993) 289-294
-
(1993)
Nat. Genet.
, vol.4
, pp. 289-294
-
-
Prezant, T.R.1
-
29
-
-
0032519307
-
Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome
-
Rieder M.J., Taylor S.L., Tobe V.O., and Nickerson D.A. Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome. Nucleic Acids Res. 26 (1998) 967-973
-
(1998)
Nucleic Acids Res.
, vol.26
, pp. 967-973
-
-
Rieder, M.J.1
Taylor, S.L.2
Tobe, V.O.3
Nickerson, D.A.4
-
30
-
-
34247176852
-
Molecular and clinical characterisation of three Spanish families with maternally inherited non-syndromic hearing loss caused by the 1494C→T mutation in the mitochondrial 12S rRNA gene
-
Rodriguez-Ballesteros M., et al. Molecular and clinical characterisation of three Spanish families with maternally inherited non-syndromic hearing loss caused by the 1494C→T mutation in the mitochondrial 12S rRNA gene. J. Med. Genet. 43 (2006) e54
-
(2006)
J. Med. Genet.
, vol.43
-
-
Rodriguez-Ballesteros, M.1
-
31
-
-
0021876634
-
The complete nucleotide sequence of the Xenopus laevis mitochondrial genome
-
Roe A., Ma D.P., Wilson R.K., and Wong J.F. The complete nucleotide sequence of the Xenopus laevis mitochondrial genome. J. Biol. Chem. 260 (1985) 9759-9774
-
(1985)
J. Biol. Chem.
, vol.260
, pp. 9759-9774
-
-
Roe, A.1
Ma, D.P.2
Wilson, R.K.3
Wong, J.F.4
-
32
-
-
6344259029
-
Mitochondrial genome variation in eastern Asia and the peopling of Japan
-
Tanaka M., et al. Mitochondrial genome variation in eastern Asia and the peopling of Japan. Genome Res. 14 (2004) 1832-1850
-
(2004)
Genome Res.
, vol.14
, pp. 1832-1850
-
-
Tanaka, M.1
-
33
-
-
34047266817
-
Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation
-
Tang X., et al. Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation. Gene 293 (2007) 11-19
-
(2007)
Gene
, vol.293
, pp. 11-19
-
-
Tang, X.1
-
34
-
-
16944363113
-
Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484
-
Torroni A., et al. Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. Am. J. Hum. Genet. 60 (1997) 1107-1121
-
(1997)
Am. J. Hum. Genet.
, vol.60
, pp. 1107-1121
-
-
Torroni, A.1
-
35
-
-
0033361927
-
The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness
-
Torroni A., et al. The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness. Am. J. Hum. Genet. 65 (1999) 1349-1358
-
(1999)
Am. J. Hum. Genet.
, vol.65
, pp. 1349-1358
-
-
Torroni, A.1
-
36
-
-
0031004773
-
Genetic and clinical features of sensorineural hearing loss associated with the 1555 mitochondrial mutation
-
Usami S.I., et al. Genetic and clinical features of sensorineural hearing loss associated with the 1555 mitochondrial mutation. Laryngoscope 107 (1997) 483-490
-
(1997)
Laryngoscope
, vol.107
, pp. 483-490
-
-
Usami, S.I.1
-
37
-
-
29644446464
-
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
-
Wang Q., et al. 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. Biochem. Biophys. Res. Commun. 340 (2006) 583-588
-
(2006)
Biochem. Biophys. Res. Commun.
, vol.340
, pp. 583-588
-
-
Wang, Q.1
-
38
-
-
13744258058
-
Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation
-
Young W.Y., et al. Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation. Biochem. Biophys. Res. Commun. 328 (2005) 1244-1251
-
(2005)
Biochem. Biophys. Res. Commun.
, vol.328
, pp. 1244-1251
-
-
Young, W.Y.1
-
39
-
-
33749463802
-
Thr may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Chinese families with hearing loss
-
Thr may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Chinese families with hearing loss. Am. J. Med. Genet. 140A (2006) 2188-2197
-
(2006)
Am. J. Med. Genet.
, vol.140 A
, pp. 2188-2197
-
-
Young, W.Y.1
-
40
-
-
25144501268
-
Ser(UCN) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and non-syndromic hearing loss
-
Ser(UCN) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and non-syndromic hearing loss. Am. J. Med. Genet. 138A (2005) 133-140
-
(2005)
Am. J. Med. Genet.
, vol.138 A
, pp. 133-140
-
-
Yuan, H.1
-
41
-
-
0347003512
-
Maternally inherited aminoglycoside-induced and non-syndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family
-
Zhao H., et al. Maternally inherited aminoglycoside-induced and non-syndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family. Am. J. Hum. Genet. 74 (2004) 139-152
-
(2004)
Am. J. Hum. Genet.
, vol.74
, pp. 139-152
-
-
Zhao, H.1
-
42
-
-
20044362198
-
Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and nonsyndromic hearing loss
-
Zhao H., et al. Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and nonsyndromic hearing loss. Nucleic Acid Res. 33 (2005) 1132-1139
-
(2005)
Nucleic Acid Res.
, vol.33
, pp. 1132-1139
-
-
Zhao, H.1
-
43
-
-
25144464065
-
Clinical evaluation and mitochondrial genome sequence analysis of two Chinese families with aminoglycoside-induced and nonsyndromic hearing loss
-
Zhao L., et al. Clinical evaluation and mitochondrial genome sequence analysis of two Chinese families with aminoglycoside-induced and nonsyndromic hearing loss. Biochem. Biophys. Res. Commun. 336 (2005) 967-973
-
(2005)
Biochem. Biophys. Res. Commun.
, vol.336
, pp. 967-973
-
-
Zhao, L.1
|