| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 7987332 | 1994 | Reid, F.M., Vernham, G.A., Jacobs, H.T. (1994) Complete mtDNA sequence of a patient in a maternal pedigree with sensorineural deafness Human Molecular Genetics . 3 (8): 1435-1436 . |
| 2 | 7994888 | 1994 | Vernham, G.A., Reid, F.M., Rundle, P.A., Jacobs, H.T. (1994) Bilateral sensorineural hearing loss in members of a maternal lineage with mitochondrial point mutation Clinical Otolaryngology . 19 (4): 314-319 . |
| 3 | 8019558 | 1994 | Reid, F.M., Vernham, G.A., Jacobs, H.T. (1994) A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness Human Mutation . 3 (3): 243-247 . |
| 4 | 8572257 | 1995 | Fischel-Ghodsian, N., Prezant, T. R., Fournier, P., Stewart, I. A., Maw, M. (1995) Mitochondrial mutation associated with nonsyndromic deafness American Journal of Otolaryngology . 16 (6): 403-408 . |
| 5 | 9247714 | 1997 | Hyslop, S.J., James, A.M., Maw, M., Fischel-Ghodsian, N., Murphy, M.P. (1997) The effect on mitochondrial function of the tRNA Ser(UCN)/COI A7445G mtDNA point mutation associated with maternally-inherited sensorineural deafness Biochemistry and Molecular Biology International . 42 (3): 567-575 . |
| 6 | 9450881 | 1998 | Sevior, K.B., Hatamochi, A., Stewart, I.A., Bykhovskaya, Y., Allen-Powell, D.R., Fischel-Ghodsian, N., Maw, M.A. (1998) Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness American Journal of Medical Genetics . 75 (2): 179-185 . |
| 7 | 9742104 | 1998 | Guan, M.X., Enriquez, J.A., Fischel-Ghodsian, N., Puranam, R.S., Lin, C.P., Maw, M.A., Attardi, G. (1998) The deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression Molecular and Cellular Biology . 18 (10): 5868-5879 . |
| 8 | 10220138 | 1999 | Fischel-Ghodsian, N. (1999) Mitochondrial deafness mutations reviewed Human Mutation . 13 (4): 261-270 . |
| 9 | 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 . |
| 10 | 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 . |
| 11 | 10760311 | 2000 | Willems, P. J. (2000) Genetic causes of hearing loss New England Journal of Medicine . 342 (15): 1101-1109 . |
| 12 | 10905659 | 2000 | Van Camp, G., Smith, R. J. (2000) Maternally inherited hearing impairment Clinical Genetics . 57 (6): 409-414 . |
| 13 | 10936107 | 2000 | Ruiz-Pesini, E., Lapena, A. C., Diez-Sanchez, C., Perez-Martos, A., Montoya, J., Alvarez, E., Diaz, M., Urries, A., Montoro, L., Lopez-Perez, M. J., Enriquez, J. A. (2000) Human mtDNA Haplogroups associated with high or reduced spermatozoa motility American Journal of Human Genetics . 67 (3): 682-696 . |
| 14 | 11069477 | 2000 | Martin, L., Toutain, A., Guillen, C., Haftek, M., Machet, M. C., Toledano, C., Arbeille, B., Lorette, G., Rotig, A., Vaillant, L. (2000) Inherited palmoplantar keratoderma and sensorineural deafness associated with A7445G point mutation in the mitochondrial genome British Journal of Dermatology . 143 (4): 876-883 . |
| 15 | 11215518 | 2000 | Hutchin, T. P., Cortopassi, G. A. (2000) Mitochondrial defects and hearing loss Cellular and Molecular Life Sciences . 57 (13-14): 1927-1937 |
| 16 | 11175301 | 2001 | Hutchin, T. P., Lench, N. J., Arbuzova, S., Markham, A. F., Mueller, R. F. (2001) Maternally inherited hearing impairment in a family with the mitochondrial DNA A7445G mutation European Journal of Human Genetics . 9 (1): 56-58 . |
| 17 | 11691920 | 2001 | Levinger, L., Jacobs, O., James, M. (2001) In vitro 3'-end endonucleolytic processing defect in a human mitochondrial tRNA(Ser(UCN)) precursor with the U7445C substitution, which causes non-syndromic deafness Nucleic Acids Research . 29 (21): 4334-4340 . |
| 18 | 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 . |
| 19 | 15126302 | 2004 | Guan, M. X. (2004) Molecular pathogenetic mechanism of maternally inherited deafness Annals of the New York Academy of Sciences . 1011 (-): 259-271 . |
| 20 | 15477393 | 2004 | Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 . |
| 21 | 15620132 | 2004 | Li, W., Han, D., Yuan, H., Cao, J. (2004) [Pedigree analysis and sequence analysis of mtDNA 12srRNA, tRNA(Leu(UUR)), tRNA(Ser(UCN)) gene in nonsyndromic inherited deafness pedigrees] Lin Chuang Er Bi Yan Hou Ke Za Zhi . 18 (10): 582-585, 589 . |
| 22 | 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 . |
| 23 | 15694374 | 2005 | Li, X., Zhang, L. S., Fischel-Ghodsian, N., Guan, M. X. (2005) Biochemical characterization of the deafness-associated mitochondrial tRNASer(UCN) A7445G mutation in osteosarcoma cell cybrids Biochemical and Biophysical Research Communications . 328 (2): 491-498 . |
| 24 | 15987292 | 2005 | Caria, H., Matos, T., Oliveira-Soares, R., Santos, A. R., Galhardo, I., Soares-Almeida, L., Dias, O., Andrea, M., Correia, C., Fialho, G. (2005) A7445G mtDNA mutation present in a Portuguese family exhibiting hereditary deafness and palmoplantar keratoderma Journal of the European Academy of Dermatology and Venereology : JEADV . 19 (4): 455-458 . |
| 25 | 16092542 | 2005 | Angeli, S. I., Liu, X. Z., Yan, D., Balkany, T., Telischi, F. (2005) Coenzyme Q-10 treatment of patients with a 7445A--->G mitochondrial DNA mutation stops the progression of hearing loss Acta Oto-Laryngologica . 125 (5): 510-512 . |
| 26 | 16132471 | 2005 | de Magalhaes, J. P. (2005) Human disease-associated mitochondrial mutations fixed in nonhuman primates Journal of Molecular Evolution . 61 (4): 491-497 . |
| 27 | 16361254 | 2006 | Yan, H., Zareen, N., Levinger, L. (2006) Naturally occurring mutations in human mitochondrial pre-tRNASer(UCN) can affect the transfer ribonuclease Z cleavage site, processing kinetics, and substrate secondary structure Journal of Biological Chemistry . 281 (7): 3926-3935 . |
| 28 | 17489842 | 2007 | Kokotas, H., Petersen, M. B., Willems, P. J. (2007) Mitochondrial deafness Clinical Genetics . 71 (5): 379-391 . |
| 29 | 18402672 | 2008 | Alvarez-Iglesias, V., Barros, F., Carracedo, A., Salas, A. (2008) Minisequencing mitochondrial DNA pathogenic mutations [METHODS] BMC Medical Genetics . 9 (-): 26 . |
| 30 | 18537605 | 2008 | Maasz, A., Komlosi, K., Hadzsiev, K., Szabo, Z., Willems, P. J., Gerlinger, I., Kosztolanyi, G., Mehes, K., Melegh, B. (2008) Phenotypic variants of the deafness-associated mitochondrial DNA A7445G mutation Current Medicinal Chemistry . 15 (13): 1257-1262 . |
| 31 | 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 . |
| 32 | 20064630 | 2010 | Nishigaki, Y., Ueno, H., Coku, J., Koga, Y., Fujii, T., Sahashi, K., Nakano, K., Yoneda, M., Nonaka, M., Tang, L., Liou, C. W., Paquis-Flucklinger, V., Harigaya, Y., Ibi, T., Goto, Y., Hosoya, H., DiMauro, S., Hirano, M., Tanaka, M. (2010) Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations [METHODS] Mitochondrion . 10 (3): 300-308 . |
| 33 | 21621438 | 2011 | Rydzanicz, M., Cywinska, K., Wrobel, M., Pollak, A., Gawecki, W., Wojsyk-Banaszak, I., Lechowicz, U., Mueller-Malesinska, M., Oldak, M., Ploski, R., Skarzynski, H., Szyfter, K., Szyfter, W. (2011) The contribution of the mitochondrial COI/tRNA(Ser(UCN)) gene mutations to non-syndromic and aminoglycoside-induced hearing loss in Polish patients Molecular Genetics and Metabolism . 104 (1-2): 153-159 . |
| 34 | 22567359 | 2011 | Nogueira, C., Coutinho, M., Pereira, C., Tessa, A., Santorelli, F. M., Vilarinho, L. (2011) Molecular investigation of pediatric portuguese patients with sensorineural hearing loss Genetics Research International . 2011 (): 587602 . |
| 35 | 22538251 | 2012 | Zheng, J., Ji, Y., Guan, M. X. (2012) Mitochondrial tRNA mutations associated with deafness Mitochondrion . 12 (3): 406-413 . |
| 36 | 23525847 | 2013 | Yelverton, J. C., Arnos, K., Xia, X. J., Nance, W. E., Pandya, A., Dodson, K. M. (2013) The clinical and audiologic features of hearing loss due to mitochondrial mutations Otolaryngology-Head and Neck Surgery . 148 (6): 1017-1022 . |
| 37 | 25968158 | 2015 | Tang, X., Zheng, J., Ying, Z., Cai, Z., Gao, Y., He, Z., Yu, H., Yao, J., Yang, Y., Wang, H., Chen, Y., Guan, M. X. (2015) Mitochondrial tRNA(Ser(UCN)) variants in 2651 Han Chinese subjects with hearing loss Mitochondrion . 23 (): 17-24 . |
| 38 | 30035268 | 2017 | Kataoka, Y., Sugaya, A., Maeda, Y., Kariya, S., Omichi, R., Fukushima, K., Nishizaki, K. (2017) Genetic counseling of a hearing-impaired patient with multiple genetic mutations Nihon Jibiinkoka Gakkai Kaiho . 120 (2): 131-136 . |
| 39 | 29605341 | 2018 | Matsushima, K., Nakano, A., Arimoto, Y., Mutai, H., Yamazawa, K., Murayama, K., Matsunaga, T. (2018) High-level heteroplasmy for the m.7445A>G mitochondrial DNA mutation can cause progressive sensorineural hearing loss in infancy [See comment Finsterer 2018 PMID 29921456] International Journal of Pediatric Otorhinolaryngology . 108 (): 125-131 . |
| 40 | 29921456 | 2018 | Finsterer, J., Zarrouk-Mahjoub, S. (2018) Infantile-onset deafness in m.7445A>G carriers may be multicausal [Comment on Matsushima et al 2018, PMID 29605341] International Journal of Pediatric Otorhinolaryngology . 111 (): 192-193 . |
| 41 | 29934116 | 2018 | Matsunaga, T., Matsushima, K., Murayama, K. (2018) Response to "infantile-onset deafness in m.7445A>G carriers may be multicausal" [Finsterer et al 2018 PMID 29921456] International Journal of Pediatric Otorhinolaryngology . 111 (): 194 . |
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| 43 | 32169613 | 2020 | Zheng, J., Bai, X., Xiao, Y., Ji, Y., Meng, F., Aishanjiang, M., Gao, Y., Wang, H., Fu, Y., Guan, M. X. (2020) Mitochondrial tRNA mutations in 887 Chinese subjects with hearing loss Mitochondrion . 52 (): 163-172 . |