MITOMAP References for Variant A-G at 7445

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Index PMID Date Reference
1 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 .
2 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 .
3 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 .
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 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 .
6 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 .
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 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 .
9 10220138 1999 Fischel-Ghodsian, N. (1999) Mitochondrial deafness mutations reviewed Human Mutation . 13 (4): 261-270 .
10 11215518 2000 Hutchin, T. P., Cortopassi, G. A. (2000) Mitochondrial defects and hearing loss Cellular and Molecular Life Sciences . 57 (13-14): 1927-1937
11 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 .
12 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 .
13 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 .
14 10905659 2000 Van Camp, G., Smith, R. J. (2000) Maternally inherited hearing impairment Clinical Genetics . 57 (6): 409-414 .
15 10760311 2000 Willems, P. J. (2000) Genetic causes of hearing loss New England Journal of Medicine . 342 (15): 1101-1109 .
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 18639500 2008 Chen, J., Yuan, H., Lu, J., Liu, X., Wang, G., Zhu, Y., Cheng, J., Wang, X., Han, B., Yang, L., Yang, S., Yang, A., Sun, Q., Kang, D., Zhang, X., Dai, P., Zhai, S., Han, D., Young, W. Y., Guan, M. X. (2008) Mutations at position 7445 in the precursor of mitochondrial tRNA(Ser(UCN)) gene in three maternal Chinese pedigrees with sensorineural hearing loss Mitochondrion . 8 (4): 285-292 .
19 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 .
20 15126302 2004 Guan, M. X. (2004) Molecular pathogenetic mechanism of maternally inherited deafness Annals of the New York Academy of Sciences . 1011 (-): 259-271 .
21 15477393 2004 Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 .
22 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 .
23 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 .
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 16132471 2005 de Magalhaes, J. P. (2005) Human disease-associated mitochondrial mutations fixed in nonhuman primates Journal of Molecular Evolution . 61 (4): 491-497 .
26 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 .
27 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 .
28 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 .
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 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 .
31 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 .
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 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 .
34 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 .
35 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 .
36 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 .
37 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 .
38 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 .
39 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 .
40 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 .