MITOMAP References for RNA Mutation A1555G

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1 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 .
2 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 .
3 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) .
4 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 .
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 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 .
8 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 .
9 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 .
10 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 .
11 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 .
12 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 .
13 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 .
14 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 .
15 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 .
16 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 .
17 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 .
18 7550368 1995 Bacino, C., Prezant, T. R., Bu, X., Fournier, P., Fischel-Ghodsian, N. (1995) Susceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside induced deafness Pharmacogenetics . 5 (3): 165-172 .
19 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 .
20 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 .
21 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 .
22 10220138 1999 Fischel-Ghodsian, N. (1999) Mitochondrial deafness mutations reviewed Human Mutation . 13 (4): 261-270 .
23 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 .
24 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 .
25 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 .
26 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 .
27 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 .
28 18674747 2008 Elliott, H. R., Samuels, D. C., Eden, J. A., Relton, C. L., Chinnery, P. F. (2008) Pathogenic mitochondrial DNA mutations are common in the general population American Journal of Human Genetics . 83 (2): 254-260 .
29 19144107 2009 Bardien, S., Human, H., Harris, T., Hefke, G., Veikondis, R., Schaaf, H. S., van der Merwe, L., Greinwald, J. H., Fagan, J., de Jong, G. (2009) A rapid method for detection of five known mutations associated with aminoglycoside-induced deafness BMC Medical Genetics . 10 (-): 2 .
30 20860455 2010 Pacheu-Grau, D., Gomez-Duran, A., Montoya, J., Ruiz-Pesini, E. (2010) Influence of mtDNA genetic variation on antibiotic therapy Pharmacogenomics . 11 (9): 1185-1187 .
31 22341444 2012 Raimundo, N., Song, L., Shutt, T. E., McKay, S. E., Cotney, J., Guan, M. X., Gilliland, T. C., Hohuan, D., Santos-Sacchi, J., Shadel, G. S. (2012) Mitochondrial stress engages E2F1 apoptotic signaling to cause deafness Cell . 148 (4): 716-726 .
32 23847141 2013 Bannwarth, S., Procaccio, V., Lebre, A. S., Jardel, C., Chaussenot, A., Hoarau, C., Maoulida, H., Charrier, N., Gai, X., Xie, H. M., Ferre, M., Fragaki, K., Hardy, G., Mousson de Camaret, B., Marlin, S., Dhaenens, C. M., Slama, A., Rocher, C., Paul Bonnefont, J., Rotig, A., Aoutil, N., Gilleron, M., Desquiret-Dumas, V., Reynier, P., Ceresuela, J., Jonard, L., Devos, A., Espil-Taris, C., Martinez, D., Gaignard, P., Le Quan Sang, K. H., Amati-Bonneau, P., Falk, M. J., Florentz, C., Chabrol, B., Durand-Zaleski, I., Paquis-Flucklinger, V. (2013) Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders Journal of Medical Genetics . 50 (10): 704-714 .
33 25838379 2015 Amunts, A., Brown, A., Toots, J., Scheres, S. H., Ramakrishnan, V. (2015) Ribosome. The structure of the human mitochondrial ribosome Science . 348 (6230): 95-98 .
34 25837512 2015 Greber, B. J., Bieri, P., Leibundgut, M., Leitner, A., Aebersold, R., Boehringer, D., Ban, N. (2015) Ribosome. The complete structure of the 55S mammalian mitochondrial ribosome Science . 348 (6232): 303-308 .
35 25313049 2014 Rebolledo-Jaramillo, B., Su, M. S., Stoler, N., McElhoe, J. A., Dickins, B., Blankenberg, D., Korneliussen, T. S., Chiaromonte, F., Nielsen, R., Holland, M. M., Paul, I. M., Nekrutenko, A., Makova, K. D. (2014) Maternal age effect and severe germ-line bottleneck in the inheritance of human mitochondrial DNA Proceedings of the National Academy of Sciences of the United States of America . 111 (43): 15474-15479 .
36 26404827 2015 Lightowlers, R. N., Taylor, R. W., Turnbull, D. M. (2015) Mutations causing mitochondrial disease: What is new and what challenges remain? Science . 349 (6255): 1494-1499 .
37 28049726 2017 Meng, F., Cang, X., Peng, Y., Li, R., Zhang, Z., Li, F., Fan, Q., Guan, A. S., Fischel-Ghosian, N., Zhao, X., Guan, M. X. (2017) Biochemical evidence for a nuclear modifier allele (A10S) in TRMU (Methylaminomethyl-2-thiouridylate-methyltransferase) related to mitochondrial tRNA modification in the phenotypic manifestation of deafness-associated 12S rRNA mutation The Journal of Biological Chemistry . 292 (7): 2881-2892 .
38 29253894 2017 Wei, W., Gomez-Duran, A., Hudson, G., Chinnery, P. F. (2017) Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations PLoS Genetics . 13 (12): e1007126 .
39 24092330 2014 Smith, P. M., Elson, J. L., Greaves, L. C., Wortmann, S. B., Rodenburg, R. J., Lightowlers, R. N., Chrzanowska-Lightowlers, Z. M., Taylor, R. W., Vila-Sanjurjo, A. (2014) The role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potential Human Molecular Genetics . 23 (4): 949-967 .
40 30369864 2018 Chinnery, P. F., Gomez-Duran, A. (2018) Oldies but goldies mtDNA population variants and neurodegenerative diseases Frontiers in Neuroscience . 12 (): 682 .
41 12711217 2003 Carelli, V., Giordano, C., d'Amati, G. (2003) Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction Trends in Genetics . 19 (5): 257-262 .
42 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 .
43 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 .
44 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 .
45 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 .
46 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 .
47 10905659 2000 Van Camp, G., Smith, R. J. (2000) Maternally inherited hearing impairment Clinical Genetics . 57 (6): 409-414 .
48 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 .
49 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 .
50 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 .
51 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 .
52 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 .
53 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 .
54 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 .
55 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 .
56 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 .
57 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 .
58 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 .
59 15126302 2004 Guan, M. X. (2004) Molecular pathogenetic mechanism of maternally inherited deafness Annals of the New York Academy of Sciences . 1011 (-): 259-271 .
60 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 .
61 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 .
62 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 .
63 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 .
64 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 .
65 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 .
66 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 .
67 10760311 2000 Willems, P. J. (2000) Genetic causes of hearing loss New England Journal of Medicine . 342 (15): 1101-1109 .
68 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 .
69 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 .
70 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 .
71 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 .
72 16132471 2005 de Magalhaes, J. P. (2005) Human disease-associated mitochondrial mutations fixed in nonhuman primates Journal of Molecular Evolution . 61 (4): 491-497 .
73 18386806 2008 Chen, B., Sun, D., Yang, L., Zhang, C., Yang, A., Zhu, Y., Zhao, J., Chen, Y., Guan, M., Wang, X., Li, R., Tang, X., Wang, J., Tao, Z., Lu, J., Guan, M. X. (2008) Mitochondrial ND5 T12338C, tRNA(Cys) T5802C, and tRNA(Thr) G15927A variants may have a modifying role in the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese pedigrees American Journal of Medical Genetics. Part A . 146A (10): 1248-1258 .
74 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 .
75 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 .
76 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 .
77 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 .
78 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 .
79 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 .
80 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 .
81 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 .
82 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 .
83 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 .
84 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 .
85 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 .
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