MITOMAP References for RNA Mutation A1555G

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1 7689389 1993 Prezant, T. R., Agapian, J. V., Bohlman, M. C., Bu, X., Oztas, S., Qiu, W. Q., Arnos, K. S., Cortopassi, G. A., Jaber, L., Rotter, J. I., Shohat, M., Fischel-Ghodsian, N. (1993) Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness Nature Genetics . 4 (3): 289-294 .
2 8285309 1993 Fischel-Ghodsian, N., Prezant, T. R., Bu, X., Oztas, S. (1993) Mitochondrial ribosomal RNA gene mutation in a patient with sporadic aminoglycoside ototoxicity American Journal of Otolaryngology . 14 (6): 399-403 .
3 8414970 1993 Hutchin, T., Haworth, I., Higashi, K., Fischel-Ghodsian, N., Stoneking, M., Saha, N., Arnos, C., Cortopassi, G. (1993) A molecular basis for human hypersensitivity to aminoglycoside antibiotics Nucleic Acids Research . 21 (18): 4174-4179 .
4 NA 1994 Matthijs, G., Claes, S., Longo-Mbenza, B., Cassiman, J.J. (1994) Teenage onset non-syndromic deafness associated with a mutation and a polymorphism in the mitochondrial 12S ribosomal RNA gene in a large Zairese pedigree American Journal of Human Genetics . 55 (Suppl): A23 (abstract) .
5 NA 1994 Shoffner, J. M., Brown, M., Huoponen, K., Stugard, C., Koontz, D., Kaufman, A., Graham, J., Dixon, J., Wallace, D. C. (1994) A mtDNA mutation associated with maternally inherited Parkinson's disease (PD) and deafness American Journal of Human Genetics . 55 (Suppl.): A242 (abstract 1417) .
6 7649544 1995 Tulinius, M.H., Houshmand, M., Larsson, N.G., Holme, E., Oldfors, A., Holmberg, E., Wahlstrom, J. (1995) De novo mutation in the mitochondrial ATP synthase subunit 6 gene (T8993G) with rapid segregation resulting in Leigh syndrome in the offspring Human Genetics . 96 (3): 290-294 .
7 8687424 1996 Inoue, K., Takai, D., Soejima, A., Isobe, K., Yamasoba, T., Oka, Y., Goto, Y., Hayashi, J. (1996) Mutant mtDNA at 1555 A to G in 12S rRNA gene and hypersusceptibility of mitochondrial translation to streptomycin can be co-transferred to rho0 HeLa cells Biochemical and Biophysical Research Communications . 223 (3): 496-501 .
8 8797567 1996 Braverman, I., Jaber, L., Levi, H., Adelman, C., Arons, K. S., Fischel-Ghodsian, N., Shohat, M., Elidan, J. (1996) Audiovestibular findings in patients with deafness caused by a mitochondrial susceptibility mutation and precipitated by an inherited nuclear mutation or aminoglycosides Archives of Otolaryngology -- Head and Neck surgery . 122 (9): 1001-1004 .
9 8800928 1996 Matthijs, G., Claes, S., Longo-Mbenza, B., Cassiman, J. J. (1996) Non-syndromic deafness associated with a mutation and a polymorphism in the mitochondrial 12S ribosomal RNA gene in a large Zairean pedigree European Journal of Human Genetics . 4 (1): 46-51 .
10 8817331 1996 Guan, M. X., Fischel-Ghodsian, N., Attardi, G. (1996) Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation Human Molecular Genetics . 5 (7): 963-971 .
11 8973709 1996 Tamagawa, Y., Kitamura, K., Ishida, T., Hagiwara, H., Abe, K., Nishizawa, M. (1996) Mitochondrial DNA mutation at nucleotide 1555 in a patient with bilateral sensorineural hearing loss of unknown etiology Acta Oto-laryngologica . 116 (6): 796-798 .
12 9040738 1997 el-Schahawi, M., Lopez de Munain, A., Sarrazin, A.M., Shanske, A.L., Basirico, M., Shanske, S., DiMauro, S. (1997) Two large Spanish pedigrees with nonsyndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12s rRNA gene: evidence of heteroplasmy Neurology . 48 (2): 453-456 .
13 9111378 1997 Usami, S., Abe, S., Kasai, M., Shinkawa, H., Moeller, B., Kenyon, J. B., Kimberling, W. J. (1997) Genetic and clinical features of sensorineural hearing loss associated with the 1555 mitochondrial mutation Laryngoscope . 107 (4): 483-490 .
14 9164619 1997 Fischel-Ghodsian, N., Prezant, T.R., Chaltraw, W.E., Wendt, K.A., Nelson, R.A., Arnos, K.S., Falk, R.E. (1997) Mitochondrial gene mutation is a significant predisposing factor in aminoglycoside ototoxicity American Journal of Otolaryngology . 18 (3): 173-178 .
15 9315872 1997 Hamasaki, K., Rando, R. R. (1997) Specific binding of aminoglycosides to a human rRNA construct based on a DNA polymorphism which causes aminoglycoside-induced deafness Biochemistry . 36 (40): 12323-12328 .
16 9391883 1997 Gardner, J.C., Goliath, R., Viljoen, D., Sellars, S., Cortopassi, G., Hutchin, T., Greenberg, J., Beighton, P. (1997) Familial streptomycin ototoxicity in a South African family: a mitochondrial disorder Journal of Medical Genetics . 34 (11): 904-906 .
17 9490575 1998 Estivill, X., Govea, N., Barcelo, E., Badenas, C., Romero, E., Moral, L., Scozzri, R., D'Urbano, L., Zeviani, M., Torroni, A. (1998) Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides American Journal of Human Genetics . 62 (1): 27-35 .
18 9777488 1998 Usami, S., Abe, S., Shinkawa, H., Kimberling, W. J. (1998) Sensorineural hearing loss caused by mitochondrial DNA mutations: special reference to the A1555G mutation Journal of Communication Disorders . 31 (5): 423-434; quiz 434-435 .
19 9779807 1998 Casano, R.A., Bykhovskaya, Y., Johnson, D.F., Hamon, M., Torricelli, F., Bigozzi, M., Fischel-Ghodsian, N. (1998) Hearing loss due to the mitochondrial A1555G mutation in Italian families American Journal of Medical Genetics . 79 (5): 388-391 .
20 9831149 1998 Tono, T., Ushisako, Y., Kiyomizu, K., Usami, S., Abe, S., Shinkawa, H., Komune, S. (1998) Cochlear implantation in a patient with profound hearing loss with the A1555G mitochondrial mutation American Journal of Otology . 19 (6): 754-757 .
21 9887373 1998 Abe, S., Usami, S., Shinkawa, H., Weston, M.D., Overbeck, L.D., Hoover, D.M., Kenyon, J.B., Horai, S., Kimberling, W.J. (1998) Phylogenetic analysis of mitochondrial DNA in Japanese pedigrees of sensorineural hearing loss associated with the A1555G mutation European Journal of Human Genetics . 6 (6): 563-569 .
22 9915970 1999 Santorelli, F.M., Tanji, K., Manta, P., Casali, C., Krishna, S., Hays, A.P., Mancini, D.M., DiMauro, S., Hirano, M. (1999) Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation American Journal of Human Genetics . 64 (1): 295-300 .
23 9950117 1999 Shohat, M., Fischel-Ghodsian, N., Legum, C., Halpern, G. J. (1999) Aminoglycoside-induced deafness associated with the mitochondrial DNA mutation A1555G American Journal of Otolaryngology . 20 (1): 64-67 .
24 10220138 1999 Fischel-Ghodsian, N. (1999) Mitochondrial deafness mutations reviewed Human Mutation . 13 (4): 261-270 .
25 10326749 1999 Casano, R. A., Johnson, D. F., Bykhovskaya, Y., Torricelli, F., Bigozzi, M., Fischel-Ghodsian, N. (1999) Inherited susceptibility to aminoglycoside ototoxicity: genetic heterogeneity and clinical implications American Journal of Otolaryngology . 20 (3): 151-156 .
26 10414625 1999 Scrimshaw, B. J., Faed, J. M., Tate, W. P., Yun, K. (1999) The frequency in New Zealand of a mitochondrial DNA mutation (1555 A to G) associated with aminoglycoside-induced hearing loss New Zealand Medical Journal . 112 (1089): 216-217 .
27 10424809 1999 Chinnery, P. F., Howell, N., Andrews, R. M., Turnbull, D. M. (1999) Mitochondrial DNA analysis: polymorphisms and pathogenicity Journal of Medical Genetics . 36 (7): 505-510 .
28 10521300 1999 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. (1999) The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness American Journal of Human Genetics . 65 (5): 1349-1358 .
29 10577941 1999 Pandya, A., Xia, X. J., Erdenetungalag, R., Amendola, M., Landa, B., Radnaabazar, J., Dangaasuren, B., Van Tuyle, G., Nance, W. E. (1999) Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia American Journal of Human Genetics . 65 (6): 1803-1806 .
30 10633132 2000 Usami, S., Abe, S., Akita, J., Namba, A., Shinkawa, H., Ishii, M., Iwasaki, S., Hoshino, T., Ito, J., Doi, K., Kubo, T., Nakagawa, T., Komiyama, S., Tono, T., Komune, S. (2000) Prevalence of mitochondrial gene mutations among hearing impaired patients Journal of Medical Genetics . 37 (1): 38-40 .
31 10739773 2000 Lopez-Bigas, N., Rabionet, R., Martinez, E., Bravo, O., Girons, J., Borragan, A., Pellicer, M., Arbones, M. L., Estivill, X. (2000) Mutations in the mitochondrial tRNA Ser(UCN) and in the GJB2 (connexin 26) gene are not modifiers of the age at onset or severity of hearing loss in Spanish patients with the 12S rRNA A1555G mutation American Journal of Human Genetics . 66 (4): 1465-1467 .
32 10760311 2000 Willems, P. J. (2000) Genetic causes of hearing loss New England Journal of Medicine . 342 (15): 1101-1109 .
33 10788333 2000 Bykhovskaya, Y., Estivill, X., Taylor, K., Hang, T., Hamon, M., Rosaria, A. M., Casano, S., Yang, H., Rotter, J. I., Shohat, M., Fischel-Ghodsian, N. (2000) Candidate locus for a nuclear modifier gene for maternally inherited deafness American Journal of Human Genetics . 66 (6): 1905-1910 .
34 10854117 2000 Lehtonen, M. S., Uimonen, S., Hassinen, I. E., Majamaa, K. (2000) Frequency of mitochondrial DNA point mutations among patients with familial sensorineural hearing impairment European Journal of Human Genetics . 8 (4): 315-318 .
35 10905659 2000 Van Camp, G., Smith, R. J. (2000) Maternally inherited hearing impairment Clinical Genetics . 57 (6): 409-414 .
36 10915767 2000 Guan, M. X., Fischel-Ghodsian, N., Attardi, G. (2000) A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity Human Molecular Genetics . 9 (12): 1787-1793 .
37 11215518 2000 Hutchin, T. P., Cortopassi, G. A. (2000) Mitochondrial defects and hearing loss Cellular and Molecular Life Sciences . 57 (13-14): 1927-1937
38 11174059 2001 Tono, T., Kiyomizu, K., Matsuda, K., Komune, S., Usami, S., Abe, S., Shinkawa, H. (2001) Different clinical characteristics of aminoglycoside-induced profound deafness with and without the 1555 A-->G mitochondrial mutation ORL Journal for Oto-Rhino-Laryngology and its Related Specialties . 63 (1): 25-30 .
39 11230176 2001 Guan, M. X., Fischel-Ghodsian, N., Attardi, G. (2001) Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation Human Molecular Genetics . 10 (6): 573-580 .
40 11388757 2001 Bykhovskaya, Y., Yang, H., Taylor, K., Hang, T., Tun, R. Y. M., Estivill, X., Casano, R. A. M. S., Majamaa, K., Shohat, M., Fischel-Ghodsian, N. (2001) Modifier locus for mitochondrial DNA disease: linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness Genetics in Medicine . 3 (3): 177-180 .
41 11857751 2002 Kupka, S., Toth, T., Wrobel, M., Zeissler, U., Szyfter, W., Szyfter, K., Niedzielska, G., Bal, J., Zenner, H. P., Sziklai, I., Blin, N., Pfister, M. (2002) Mutation A1555G in the 12S rRNA gene and its epidemiological importance in German, Hungarian, and Polish patients Human Mutation (Online) . 19 (3): 308-309 .
42 12011058 2002 Li, X., Li, R., Lin, X., Guan, M. X. (2002) Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12 S rRNA A1555G mutation Journal of Biological Chemistry . 277 (30): 27256-27264 .
43 12031626 2002 Yamasoba, T., Goto, Y., Oka, Y., Nishino, I., Tsukuda, K., Nonaka, I. (2002) Atypical muscle pathology and a survey of cis-mutations in deaf patients harboring a 1555 A-to-G point mutation in the mitochondrial ribosomal RNA gene Neuromuscular Disorders . 12 (5): 506-512 .
44 12054632 2002 Giordano, C., Pallotti, F., Walker, W. F., Checcarelli, N., Musumeci, O., Santorelli, F., d'Amati, G., Schon, E. A., DiMauro, S., Hirano, M., Davidson, M. M. (2002) Pathogenesis of the deafness-associated A1555G mitochondrial DNA mutation Biochemical and Biophysical Research Communications . 293 (1): 521-529 .
45 12370316 2002 Li, X., Guan, M. X. (2002) A human mitochondrial GTP binding protein related to tRNA modification may modulate phenotypic expression of the deafness-associated mitochondrial 12S rRNA mutation Molecular and Cellular Biology . 22 (21): 7701-7711 .
46 12372057 2002 Ostergaard, E., Montserrat-Sentis, B., Gronskov, K., Brondum-Nielsen, K. (2002) The A1555G mtDNA mutation in Danish hearing-impaired patients: frequency and clinical signs Clinical Genetics . 62 (4): 303-305 .
47 12394346 2002 Tang, H. Y., Hutcheson, E., Neill, S., Drummond-Borg, M., Speer, M., Alford, R. L. (2002) Genetic susceptibility to aminoglycoside ototoxicity: how many are at risk? Genetics in Medicine . 4 (5): 336-345 .
48 12655418 2003 Tekin, M., Duman, T., Bogoclu, G., Incesulu, A., Comak, E., Fitoz, S., Yilmaz, E., Ilhan, I., Akar, N. (2003) Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey European Journal of Pediatrics . 162 (3): 154-158 .
49 12920080 2003 del Castillo, F. J., Rodriguez-Ballesteros, M., Martin, Y., Arellano, B., Gallo-Teran, J., Morales-Angulo, C., Ramirez-Camacho, R., Cruz Tapia, M., Solanellas, J., Martinez-Conde, A., Villamar, M., Moreno-Pelayo, M. A., Moreno, F., del Castillo, I. (2003) Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss Journal of Medical Genetics . 40 (8): 632-636 .
50 12955586 2003 Malik, S. G., Pieter, N., Sudoyo, H., Kadir, A., Marzuki, S. (2003) Prevalence of the mitochondrial DNA A1555G mutation in sensorineural deafness patients in island Southeast Asia Journal of Human Genetics . 48 (9): 480-483 .
51 14699607 2004 Li, R., Xing, G., Yan, M., Cao, X., Liu, X. Z., Bu, X., Guan, M. X. (2004) Cosegregation of C-insertion at position 961 with the A1555G mutation of the mitochondrial 12S rRNA gene in a large Chinese family with maternally inherited hearing loss American Journal of Medical Genetics . 124A (2): 113-117 .
52 14755216 2004 Noguchi, Y., Yashima, T., Ito, T., Sumi, T., Tsuzuku, T., Kitamura, K. (2004) Audiovestibular findings in patients with mitochondrial A1555G mutation Laryngoscope . 114 (2): 344-348 .
53 15126302 2004 Guan, M. X. (2004) Molecular pathogenetic mechanism of maternally inherited deafness Annals of the New York Academy of Sciences . 1011 (-): 259-271 .
54 15179218 2004 Matsunaga, T., Kumanomido, H., Shiroma, M., Ohtsuka, A., Asamura, K., Usami, S. (2004) Deafness due to A1555G mitochondrial mutation without use of aminoglycoside Laryngoscope . 114 (6): 1085-1091 .
55 15286157 2004 Li, R., Greinwald, J. H., Jr., Yang, L., Choo, D. I., Wenstrup, R. J., Guan, M. X. (2004) Molecular analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in paediatric subjects with non-syndromic hearing loss Journal of Medical Genetics . 41 (8): 615-620 .
56 15542390 2004 Bykhovskaya, Y., Mengesha, E., Wang, D., Yang, H., Estivill, X., Shohat, M., Fischel-Ghodsian, N. (2004) Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3 Molecular Genetics and Metabolism . 83 (3): 199-206 .
57 15292920 2005 Jacobs, H. T., Hutchin, T. P., Kappi, T., Gillies, G., Minkkinen, K., Walker, J., Thompson, K., Rovio, A. T., Carella, M., Melchionda, S., Zelante, L., Gasparini, P., Pyykko, I., Shah, Z. H., Zeviani, M., Mueller, R. F. (2005) Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment European Journal of Human Genetics . 13 (1): 26-33 .
58 15708009 2005 Young, W. Y., Zhao, L., Qian, Y., Wang, Q., Li, N., Greinwald, J. H., Jr., Guan, M. X. (2005) Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation Biochemical and Biophysical Research Communications . 328 (4): 1244-1251 .
59 15841390 2005 Li, Z., Li, R., Chen, J., Liao, Z., Zhu, Y., Qian, Y., Xiong, S., Heman-Ackah, S., Wu, J., Choo, D. I., Guan, M. X. (2005) Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss Human Genetics . 117 (1): 9-15 .
60 16132471 2005 de Magalhaes, J. P. (2005) Human disease-associated mitochondrial mutations fixed in nonhuman primates Journal of Molecular Evolution . 61 (4): 491-497 .
61 16152638 2005 Yuan, H., Qian, Y., Xu, Y., Cao, J., Bai, L., Shen, W., Ji, F., Zhang, X., Kang, D., Mo, J. Q., Greinwald, J. H., Han, D., Zhai, S., Young, W. Y., Guan, M. X. (2005) Cosegregation of the G7444A mutation in the mitochondrial COI/tRNA(Ser(UCN)) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and nonsyndromic hearing loss American Journal of Medical Genetics . 138A (2): 133-140 .
62 16168391 2005 Zhao, L., Wang, Q., Qian, Y., Li, R., Cao, J., Hart, L. C., Zhai, S., Han, D., Young, W. Y., Guan, M. X. (2005) Clinical evaluation and mitochondrial DNA sequence analysis in two Chinese families with aminoglycoside-induced and non-syndromic hearing loss Biochemical and Biophysical Research Communications . 336 (3): 967-973 .
63 16375862 2006 Dai, P., Liu, X., Han, D., Qian, Y., Huang, D., Yuan, H., Li, W., Yu, F., Zhang, R., Lin, H., He, Y., Yu, Y., Sun, Q., Qin, H., Li, R., Zhang, X., Kang, D., Cao, J., Young, W. Y., Guan, M. X. (2006) Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: Implication for early detection and prevention of deafness Biochemical and Biophysical Research Communications . 340 (1): 194-199 .
64 16406239 2006 Mkaouar-Rebai, E., Tlili, A., Masmoudi, S., Louhichi, N., Charfeddine, I., Ben Amor, M., Lahmar, I., Driss, N., Drira, M., Ayadi, H., Fakhfakh, F. (2006) Mutational analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in Tunisian patients with nonsyndromic hearing loss Biochemical and Biophysical Research Communications . 340 (4): 1251-1258 .
65 16458854 2006 Ballana, E., Morales, E., Rabionet, R., Montserrat, B., Ventayol, M., Bravo, O., Gasparini, P., Estivill, X. (2006) Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment Biochemical and Biophysical Research Communications . 341 (4): 950-957 .
66 16513084 2006 Yan, Q., Bykhovskaya, Y., Li, R., Mengesha, E., Shohat, M., Estivill, X., Fischel-Ghodsian, N., Guan, M. X. (2006) 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 Biochemical and Biophysical Research Communications . 342 (4): 1130-1136 .
67 16528519 2006 Yao, Y. G., Salas, A., Bravi, C. M., Bandelt, H. J. (2006) A reappraisal of complete mtDNA variation in East Asian families with hearing impairment Human Genetics . 119 (5): 505-515 .
68 16574076 2006 Abreu-Silva, R. S., Batissoco, A. C., Lezirovitz, K., Romanos, J., Rincon, D., Auricchio, M. T., Otto, P. A., Mingroni-Netto, R. C. (2006) Correspondence regarding Ballana et al., "Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment" [BBRC 341(4):950-957]; [author reply BBRC 343(3):619-620] Biochemical and Biophysical Research Communications . 343 (3): 675-676 .
69 16631122 2006 Bravo, O., Ballana, E., Estivill, X. (2006) Cochlear alterations in deaf and unaffected subjects carrying the deafness-associated A1555G mutation in the mitochondrial 12S rRNA gene Biochemical and Biophysical Research Communications . 344 (2): 511-516 .
70 16777068 2006 Ballana, E., Morales, E., Estivill, X. (2006) Reply to correspondence by Abreu-Silva et al. regarding Ballana et al. [BBRC: Mutation T1291C in the mitochondrial 12S rRNA gene involved in deafness in a Cuban family belongs to the macrohaplogroup L1 of African origin Biochemical and Biophysical Research Communications . 346 (3): 619-620 .
71 16826519 2006 Guan, M. X., 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, J. L., Li, R., Qian, Y., Wang, X., Ballana, E., Shohat, M., Lu, J., Estivill, X., Watanabe, K., Fischel-Ghodsian, N. (2006) Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations American Journal of Human Genetics . 79 (2): 291-302 .
72 16947981 2006 Ruiz-Pesini, E., Wallace, D. C. (2006) Evidence for adaptive selection acting on the tRNA and rRNA genes of the human mitochondrial DNA Human Mutation . 27 (11): 1072-1081 .
73 16955413 2006 Young, W. Y., Zhao, L., Qian, Y., Li, R., Chen, J., Yuan, H., Dai, P., Zhai, S., Han, D., Guan, M. X. (2006) Variants in mitochondrial tRNAGlu, tRNAArg, and tRNAThr may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese families with hearing loss American Journal of Medical Genetics. Part A . 140 (20): 2188-2197 .
74 17341440 2007 Tang, X., Yang, L., Zhu, Y., Liao, Z., Wang, J., Qian, Y., Tao, Z., Hu, L., Wu, G., Lan, J., Wang, X., Ji, J., Wu, J., Ji, Y., Feng, J., Chen, J., Li, Z., Zhang, X., Lu, J., Guan, M. X. (2007) Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation Gene . 393 (40545): 11-19 .
75 17452034 2007 Wei, Q. P., Zhou, X., Yang, L., Sun, Y. H., Zhou, J., Li, G., Jiang, R., Lu, F., Qu, J., Guan, M. X. (2007) The coexistence of mitochondrial ND6 T14484C and 12S rRNA A1555G mutations in a Chinese family with Leber's hereditary optic neuropathy and hearing loss Biochemical and Biophysical Research Communications . 357 (4): 910-916 .
76 17489842 2007 Kokotas, H., Petersen, M. B., Willems, P. J. (2007) Mitochondrial deafness Clinical Genetics . 71 (5): 379-391 .
77 17637808 2007 Leveque, M., Marlin, S., Jonard, L., Procaccio, V., Reynier, P., Amati-Bonneau, P., Baulande, S., Pierron, D., Lacombe, D., Duriez, F., Francannet, C., Mom, T., Journel, H., Catros, H., Drouin-Garraud, V., Obstoy, M. F., Dollfus, H., Eliot, M. M., Faivre, L., Duvillard, C., Couderc, R., Garabedian, E. N., Petit, C., Feldmann, D., Denoyelle, F. (2007) Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip European Journal of Human Genetics . 15 (11): 1145-1155 .
78 17723226 2007 Liao, Z., Zhao, J., Zhu, Y., Yang, L., Yang, A., Sun, D., Zhao, Z., Wang, X., Tao, Z., Tang, X., Wang, J., Guan, M., Chen, J., Li, Z., Lu, J., Guan, M. X. (2007) The ND4 G11696A mutation may influence the phenotypic manifestation of the deafness-associated 12S rRNA A1555G mutation in a four-generation Chinese family Biochemical and Biophysical Research Communications . 362 (3): 670-676 .
79 18154640 2007 Ballana, E., Mercader, J. M., Fischel-Ghodsian, N., Estivill, X. (2007) MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene BMC Medical Genetics . 8 (-): 81 .
80 17999439 2008 Ballana, E., Govea, N., de Cid, R., Garcia, C., Arribas, C., Rosell, J., Estivill, X. (2008) Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations Human Mutation . 29 (2): 248-257 .
81 18215147 2008 Berrettini, S., Forli, F., Passetti, S., Rocchi, A., Pollina, L., Cecchetti, D., Mancuso, M., Siciliano, G. (2008) Mitochondrial non-syndromic sensorineural hearing loss: a clinical, audiological and pathological study from Italy, and revision of the literature Bioscience Reports . 28 (1): 49-59 .
82 18282333 2008 Bai, Y. H., Ren, C. C., Gong, X. R., Meng, L. P. (2008) A maternal hereditary deafness pedigree of the A1555G mitochondrial mutation, causing aminoglycoside ototoxicity predisposition The Journal of Laryngology and Otology . 122 (10): 1037-1041 .
83 18308926 2008 Hobbie, S. N., Bruell, C. M., Akshay, S., Kalapala, S. K., Shcherbakov, D., Bottger, E. C. (2008) Mitochondrial deafness alleles confer misreading of the genetic code Proceedings of the National Academy of Sciences of the United States of America . 105 (9): 3244-3249 .
84 18325329 2008 Mkaouar-Rebai, E., Tlili, A., Masmoudi, S., Charfeddine, I., Fakhfakh, F. (2008) New polymorphic mtDNA restriction site in the 12S rRNA gene detected in Tunisian patients with non-syndromic hearing loss Biochemical and Biophysical Research Communications . 369 (3): 849-852 .
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