MITOMAP References for Variant A7445G at 7445

Download PMID list

PMID Reference
8019558 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 .
7987332 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 .
7994888 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 .
9247714 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 .
9450881 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 .
9742104 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 .
10936107 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 .
10220138 Fischel-Ghodsian, N. (1999) Mitochondrial deafness mutations reviewed Human Mutation . 13 (4): 261-270 .
18674747 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 .
NA Bolze, A., Mendez, F., White, S., Tanudjaja, F., Isaksson, M., Jiang, R., Dei Rossi, A., Cirulli, E. T., Rashkin, M., Metcalf, W. J., Grzymski, J. J., Lee, W., Lu, J. T. and Washington, N. L. (2020) A catalog of homoplasmic and heteroplasmic mitochondrial DNA variants in humans bioRxiv . ePub (https://www.biorxiv.org/content/10.1101/798264v3): 798264 .
31965079 Wong, L. C., Chen, T., Wang, J., Tang, S., Schmitt, E. S., Landsverk, M., Li, F., Wang, Y., Zhang, S., Zhang, V. W., Craigen, W. J. (2020) Interpretation of mitochondrial tRNA variants Genetics in Medicine 22 (5): 917-926; Suppl Table 1 .
12655418 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 .
10905659 Van Camp, G., Smith, R. J. (2000) Maternally inherited hearing impairment Clinical Genetics . 57 (6): 409-414 .
10577941 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 .
8572257 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 .
15126302 Guan, M. X. (2004) Molecular pathogenetic mechanism of maternally inherited deafness Annals of the New York Academy of Sciences . 1011 (-): 259-271 .
15694374 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 .
10760311 Willems, P. J. (2000) Genetic causes of hearing loss New England Journal of Medicine . 342 (15): 1101-1109 .
16361254 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 .
11691920 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 .
15477393 Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 .
18402672 Alvarez-Iglesias, V., Barros, F., Carracedo, A., Salas, A. (2008) Minisequencing mitochondrial DNA pathogenic mutations [METHODS] BMC Medical Genetics . 9 (-): 26 .
16132471 de Magalhaes, J. P. (2005) Human disease-associated mitochondrial mutations fixed in nonhuman primates Journal of Molecular Evolution . 61 (4): 491-497 .
11175301 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 .
10633132 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 .
18537605 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 .
11215518 Hutchin, T. P., Cortopassi, G. A. (2000) Mitochondrial defects and hearing loss Cellular and Molecular Life Sciences . 57 (13-14): 1927-1937
15292920 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 .
20064630 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 .
17489842 Kokotas, H., Petersen, M. B., Willems, P. J. (2007) Mitochondrial deafness Clinical Genetics . 71 (5): 379-391 .
21621438 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 .
29605341 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 .
29921456 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 .
29934116 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 .
25968158 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 .
32169613 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 .
22538251 Zheng, J., Ji, Y., Guan, M. X. (2012) Mitochondrial tRNA mutations associated with deafness Mitochondrion . 12 (3): 406-413 .