Index | PMID | Date | Reference |
---|---|---|---|
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 | 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 . |
7 | 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 . |
8 | 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 . |
9 | 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 . |
10 | 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 . |
11 | 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 . |
12 | 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 . |
13 | 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 . |
14 | 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 . |
15 | 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 . |
16 | 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 . |
17 | 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 . |
18 | 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 . |
19 | 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 . |
20 | 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 . |
21 | 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 . |
22 | 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 . |
23 | 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 . |
24 | 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 . |
25 | 10220138 | 1999 | Fischel-Ghodsian, N. (1999) Mitochondrial deafness mutations reviewed Human Mutation . 13 (4): 261-270 . |
26 | 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 . |
27 | 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 . |
28 | 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 . |
29 | 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 . |
30 | 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 . |
31 | 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 . |
32 | 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 . |
33 | 10760311 | 2000 | Willems, P. J. (2000) Genetic causes of hearing loss New England Journal of Medicine . 342 (15): 1101-1109 . |
34 | 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 . |
35 | 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 . |
36 | 10905659 | 2000 | Van Camp, G., Smith, R. J. (2000) Maternally inherited hearing impairment Clinical Genetics . 57 (6): 409-414 . |
37 | 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 . |
38 | 11215518 | 2000 | Hutchin, T. P., Cortopassi, G. A. (2000) Mitochondrial defects and hearing loss Cellular and Molecular Life Sciences . 57 (13-14): 1927-1937 |
39 | 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 . |
40 | 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 . |
41 | 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 . |
42 | 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 . |
43 | 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 . |
44 | 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 . |
45 | 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 . |
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 | 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 . |
48 | 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 . |
49 | 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 . |
50 | 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 . |
51 | 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 . |
52 | 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 . |
53 | 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 . |
54 | 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 . |
55 | 15126302 | 2004 | Guan, M. X. (2004) Molecular pathogenetic mechanism of maternally inherited deafness Annals of the New York Academy of Sciences . 1011 (-): 259-271 . |
56 | 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 . |
57 | 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 . |
58 | 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 . |
59 | 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 . |
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 | 16132471 | 2005 | de Magalhaes, J. P. (2005) Human disease-associated mitochondrial mutations fixed in nonhuman primates Journal of Molecular Evolution . 61 (4): 491-497 . |
63 | 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 . |
64 | 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 . |
65 | 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 . |
66 | 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 . |
67 | 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 . |
68 | 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 . |
69 | 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 . |
70 | 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 . |
71 | 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 . |
72 | 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 . |
73 | 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 . |
74 | 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 . |
75 | 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 . |
76 | 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 . |
77 | 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 . |
78 | 17489842 | 2007 | Kokotas, H., Petersen, M. B., Willems, P. J. (2007) Mitochondrial deafness Clinical Genetics . 71 (5): 379-391 . |
79 | 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 . |
80 | 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 . |
81 | 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 . |
82 | 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 . |
83 | 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 . |
84 | 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 . |
85 | 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 . |
86 | 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 . |
87 | 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 . |
88 | 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 . |
89 | 18775412 | 2008 | Zhang, A. M., Jia, X., Yao, Y. G., Zhang, Q. (2008) Co-occurrence of A1555G and G11778A in a Chinese family with high penetrance of Leber's hereditary optic neuropathy Biochemical and Biophysical Research Communications . 376 (1): 221-224 . |
90 | 18790089 | 2008 | Konings, A., Van Camp, G., Goethals, A., Van Eyken, E., Vandevelde, A., Ben Azza, J., Peeters, N., Wuyts, W., Smeets, H., Van Laer, L. (2008) Mutation analysis of mitochondrial DNA 12SrRNA and tRNASer(UCN) genes in non-syndromic hearing loss patients Mitochondrion . 8 (40669): 377-382 . |
91 | 18820594 | 2008 | Wang, X., Lu, J., Zhu, Y., Yang, A., Yang, L., Li, R., Chen, B., Qian, Y., Tang, X., Wang, J., Zhang, X., Guan, M. X. (2008) Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families Pharmacogenetics and Genomics . 18 (12): 1059-1070 . |
92 | 18930888 | 2008 | Tang, X. W., Li, Z. Y., Lu, J. X., Zhu, Y., Li, R. H., Wang, J. D., Guan, M. X. (2008) [Mitochondrial tRNAThr G15927A mutation may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation.] Yi Chuan [Hereditas] . 30 (10): 1287-1294 . |
93 | 19026397 | 2008 | Ji, Y., Zhang, A. M., Jia, X., Zhang, Y. P., Xiao, X., Li, S., Guo, X., Bandelt, H. J., Zhang, Q., Yao, Y. G. (2008) Mitochondrial DNA haplogroups M7b1'2 and M8a affect clinical expression of leber hereditary optic neuropathy in Chinese families with the m.11778G-->a mutation American Journal of Human Genetics . 83 (6): 760-768 . |
94 | 19082356 | 2008 | Maniglia, L. P., Moreira, B. C. L., da Silva, M., Piatto, V. B., Maniglia, J. V. (2008) Screening of the mitochondrial A1555G mutation in patients with sensorineural hearing loss Brazilian Journal of Otorhinolaryngology . 74 (5): 731-736 . |
95 | 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 . |
96 | 19370763 | 2009 | Dobrowolski, S. F., Gray, J., Miller, T., Sears, M. (2009) Identifying sequence variants in the human mitochondrial genome using high-resolution melt (HRM) profiling Human Mutation (Online) . 30 (6): 891-898 . |
97 | 19371214 | 2009 | Rydzanicz, M., Wrobel, M., Cywinska, K., Froehlich, D., Gawecki, W., Szyfter, W., Szyfter, K. (2009) Screening of the general Polish population for deafness-associated mutations in mitochondrial 12S rRNA and tRNA Ser(UCN) genes Genetic Testing and Molecular Biomarkers . 13 (2): 167-172 . |
98 | 19376484 | 2009 | Ding, Y., Li, Y., You, J., Yang, L., Chen, B., Lu, J., Guan, M. X. (2009) Mitochondrial tRNA(Glu) A14693G variant may modulate the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in a Han Chinese family Journal of Genetics and Genomics (Yi Chuan Xue Bao) . 36 (4): 241-250 . |
99 | 19687236 | 2009 | Qian, Y., Guan, M. X. (2009) Interaction of aminoglycosides with human mitochondrial 12S rRNA carrying the deafness-associated mutation Antimicrobial Agents and Chemotherapy . 53 (11): 4612-4618 . |
100 | 19705751 | 2009 | Dzhemileva, L. U., Posukh, O. L., Tazetdinov, A. M., Barashkov, N. A., Zhuravskii, S. G., Ponidelko, S. N., Markova, T. G., Tadinova, V. N., Fedorova, S. A., Maksimova, N. R., Khusnutdinova, E. K. (2009) [Analysis of mitochondrial 12S rRNA and tRNA(Ser(UCN)) genes in patients with nonsyndromic sensorineural hearing loss from various regions of Russia] Genetika . 45 (7): 982-991 . |
101 | 19818876 | 2010 | Lu, J., Qian, Y., Li, Z., Yang, A., Zhu, Y., Li, R., Yang, L., Tang, X., Chen, B., Ding, Y., Li, Y., You, J., Zheng, J., Tao, Z., Zhao, F., Wang, J., Sun, D., Zhao, J., Meng, Y., Guan, M. X. (2010) Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation Mitochondrion . 10 (1): 69-81 . |
102 | 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 . |
103 | 20100600 | 2010 | Lu, J., Li, Z., Zhu, Y., Yang, A., Li, R., Zheng, J., Cai, Q., Peng, G., Zheng, W., Tang, X., Chen, B., Chen, J., Liao, Z., Yang, L., Li, Y., You, J., Ding, Y., Yu, H., Wang, J., Sun, D., Zhao, J., Xue, L., Wang, J., Guan, M. X. (2010) Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss Mitochondrion . 10 (4): 380-390 . |
104 | 20111055 | 2010 | Kato, T., Nishigaki, Y., Noguchi, Y., Ueno, H., Hosoya, H., Ito, T., Kimura, Y., Kitamura, K., Tanaka, M. (2010) Extensive and rapid screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss Journal of Human Genetics . 55 (3): 147-154 . |
105 | 20123042 | 2010 | Cao, Y., Ma, Y., Zhang, Y., Li, Y., Fang, F., Wang, S., Bu, D., Xu, Y., Pei, P., Li, L., Xiao, Y., Wu, H., Yang, Y., Zou, L., Qi, Y. (2010) Detection of eight frequently encountered point mutations in mitochondria in Chinese patients suggestive of mitochondrial encephalomyopathies Mitochondrion . 10 (4): 330-334 . |
106 | 20353758 | 2010 | Rydzanicz, M., Wrobel, M., Pollak, A., Gawecki, W., Brauze, D., Kostrzewska-Poczekaj, M., Wojsyk-Banaszak, I., Lechowicz, U., Mueller-Malesinska, M., Oldak, M., Ploski, R., Skarzynski, H., Szyfter, K. (2010) Mutation analysis of mitochondrial 12S rRNA gene in Polish patients with non-syndromic and aminoglycoside-induced hearing loss Biochemical and Biophysical Research Communications . 395 (1): 116-121 . |
107 | 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 . |
108 | 21047563 | 2011 | Guan, M. X. (2011) Mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity Mitochondrion . 11 (2): 237-45 . |
109 | 21162657 | 2011 | Ji, Y. B., Han, D. Y., Lan, L., Wang, D. Y., Zong, L., Zhao, F. F., Liu, Q., Benedict-Alderfer, C., Zheng, Q. Y., Wang, Q. J. (2011) Molecular epidemiological analysis of mitochondrial DNA12SrRNA A1555G, GJB2, and SLC26A4 mutations in sporadic outpatients with nonsyndromic sensorineural hearing loss in China Acta Oto-Laryngologica . 131 (2): 124-129 . |
110 | 21456129 | 2011 | Li, Y., Tang, J., Pan, Z., Xiao, P., Zhou, D., Jin, L., Pan, M., Lu, Z. (2011) Single nucleotide polymorphism genotyping and point mutation detection by ligation on microarrays Journal of Nanoscience and Nanotechnology . 11 (2): 994-1003 . |
111 | 21495045 | 2011 | Ealy, M., Lynch, K. A., Meyer, N. C., Smith, R. J. (2011) The prevalence of mitochondrial mutations associated with aminoglycoside-induced sensorineural hearing loss in an NICU population Laryngoscope . 121 (6): 1184-1186 . |
112 | 21504270 | 2011 | Men, M., Jiang, L., Wang, H., Liu, Y., Hu, Z., He, C., Feng, Y. (2011) Unique penetrance of hearing loss in a five-generation Chinese family with the mitochondrial 12S rRNA 1555A > G mutation Acta Oto-Laryngologica . 131 (9): 970-975 . |
113 | 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 . |
114 | 21725156 | 2011 | Kokotas, H., Grigoriadou, M., Korres, G. S., Ferekidou, E., Kandiloros, D., Korres, S., Petersen, M. B. (2011) Detection of deafness-causing mutations in the Greek mitochondrial genome Disease Markers . 30 (6): 283-289 . |
115 | 21838605 | 2011 | Ding, Y., Leng, J., Zheng, J. (2011) Critical reassessment of a five-generation Chinese family carrying deafness-associated mitochondrial 1555A>G mutation Acta Oto-Laryngologica . 131 (11): 1239-1240 . |
116 | 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 . |
117 | 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 . |
118 | 22475488 | 2012 | Shen, S. S., Liu, C., Xu, Z. Y., Hu, Y. H., Gao, G. F., Wang, S. Y. (2012) Heteroplasmy levels of mtDNA1555A>G mutation is positively associated with diverse phenotypes and mutation transmission in a Chinese family Biochemical and Biophysical Research Communications . 420 (4): 907-912 . |
119 | 23301511 | 2013 | Mkaouar-Rebai, E., Chamkha, I., Mezghani, N., Ben Ayed, I., Fakhfakh, F. (2013) Screening of mitochondrial mutations in Tunisian patients with mitochondrial disorders: an overview study Mitochondrial DNA . 24 (3): 163-178 . |
120 | 23395464 | 2013 | Sobenin, I. A., Sazonova, M. A., Postnov, A. Y., Bobryshev, Y. V., Orekhov, A. N. (2013) Changes of mitochondria in atherosclerosis: possible determinant in the pathogenesis of the disease Atherosclerosis . 227 (2): 283-288 . |
121 | 23774020 | 2013 | Liang, L. Z., Wu, Y., Yang, Y. L., Cai, Q., Xiao, H. L., Zheng, J., Zheng, B. J., Tang, X. W., Zhu, Y., Lu, J. X., Guan, M. X. (2013) [Mitochondrial tRNAIle A4317G mutation may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation] Yi Chuan . 35 (6): 752-760 . |
122 | 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 . |
123 | 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 . |
124 | 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 . |
125 | 25834827 | 2015 | Sazonova, M. A., Sinyov, V. V., Barinova, V. A., Ryzhkova, A. I., Zhelankin, A. V., Postnov, A. Y., Sobenin, I. A., Bobryshev, Y. V., Orekhov, A. N. (2015) Mosaicism of mitochondrial genetic variation in atherosclerotic lesions of the human aorta BioMed Research International . 2015 (): 825468 . |
126 | 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 . |
127 | 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 . |
128 | 26361786 | 2015 | Ying, Z., Zheng, J., Cai, Z., Liu, L., Dai, Y., Yao, J., Wang, H., Gao, Y., Zheng, B., Tang, X., Zhu, Y., Guan, M. X., Chen, Y. (2015) Mitochondrial haplogroup B increases the risk for hearing loss among the Eastern Asian pedigrees carrying 12S rRNA 1555A>G mutation Protein and Cell . 6 (11): 844-848 . |
129 | 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 . |
130 | 26741492 | 2016 | Kohda, M., Tokuzawa, Y., Kishita, Y., Nyuzuki, H., Moriyama, Y., Mizuno, Y., Hirata, T., Yatsuka, Y., Yamashita-Sugahara, Y., Nakachi, Y., Kato, H., Okuda, A., Tamaru, S., Borna, N. N., Banshoya, K., Aigaki, T., Sato-Miyata, Y., Ohnuma, K., Suzuki, T., Nagao, A., Maehata, H., Matsuda, F., Higasa, K., Nagasaki, M., Yasuda, J., Yamamoto, M., Fushimi, T., Shimura, M., Kaiho-Ichimoto, K., Harashima, H., Yamazaki, T., Mori, M., Murayama, K., Ohtake, A., Okazaki, Y. (2016) A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain complex deficiencies PLoS Genetics . 12 (1): e1005679 . |
131 | 27654872 | 2016 | Barbarino, J. M., McGregor, T. L., Altman, R. B., Klein, T. E. (2016) PharmGKB summary: very important pharmacogene information for MT-RNR1 Pharmacogenetics and Genomics . 26 (12): 558-567 . |
132 | 27308839 | 2017 | Wu, C. C., Tsai, C. H., Hung, C. C., Lin, Y. H., Lin, Y. H., Huang, F. L., Tsao, P. N., Su, Y. N., Lee, Y. L., Hsieh, W. S., Hsu, C. J. (2017) Newborn genetic screening for hearing impairment: a population-based longitudinal study Genetics in Medicine . 19 (1): 6-12 . |
133 | 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 . |
134 | 28320335 | 2017 | Mutai, H., Watabe, T., Kosaki, K., Ogawa, K., Matsunaga, T. (2017) Mitochondrial mutations in maternally inherited hearing loss BMC Medical Genetics . 18 (1): 32 . |
135 | 28951770 | 2017 | Sazonova, M. A., Sinyov, V. V., Ryzhkova, A. I., Galitsyna, E. V., Khasanova, Z. B., Postnov, A. Y., Yarygina, E. I., Orekhov, A. N., Sobenin, I. A. (2017) Role of mitochondrial genome mutations in pathogenesis of carotid atherosclerosis Oxidative Medicine and Cellular Longevity . 2017 (): 6934394 . |
136 | 29182774 | 2017 | Kullar, P. J., Gomez-Duran, A., Gammage, P. A., Garone, C., Minczuk, M., Golder, Z., Wilson, J., Montoya, J., Hakli, S., Karppa, M., Horvath, R., Majamaa, K., Chinnery, P. F. (2017) Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family Brain 141 (1): 55-62 |
137 | 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 . |
138 | 29336589 | 2018 | Celie, B. M., Mariman, A., Boone, J., Delesie, L., Tobback, E., Seneca, S., De Paepe, B., Vogelaers, D., Van Coster, R. N., Bourgois, J. G. (2018) Near-infrared spectroscopy screening to allow detection of pathogenic mitochondrial DNA variants in individuals with unexplained abnormal fatigue: a preliminary study Applied Spectroscopy . 72 (5): 715-724 . |
139 | 29340697 | 2018 | Valiente-Palleja, A., Torrell, H., Muntane, G., Cortes, M. J., Martinez-Leal, R., Abasolo, N., Alonso, Y., Vilella, E., Martorell, L. (2018) Genetic and clinical evidence of mitochondrial dysfunction in autism spectrum disorder and intellectual disability Human Molecular Genetics . 27 (5): 891-900 . |
140 | 29348176 | 2018 | Meng, F., He, Z., Tang, X., Zheng, J., Jin, X., Zhu, Y., Ren, X., Zhou, M., Wang, M., Gong, S., Mo, J. Q., Shu, Q., Guan, M. X. (2018) Contribution of the tRNA(Ile) 4317A-->G mutation to the phenotypic manifestation of the deafness-associated mitochondrial 12S rRNA 1555A-->G mutation The Journal of Biological Chemistry . 293 (9): 3321-3334 . |
141 | 29670672 | 2018 | Sazonova, M. A., Ryzhkova, A. I., Sinyov, V. V., Galitsyna, E. V., Melnichenko, A. A., Demakova, N. A., Sobenin, I. A., Shkurat, T. P., Orekhov, A. N. (2018) Mitochondrial genome mutations associated with myocardial infarction Disease Markers . 2018 (): 9749457 . |
142 | 29707576 | 2018 | Wang, C., Wang, S., Chen, H., Lu, D. (2018) Establishment of a gene detection system for hotspot mutations of hearing loss Biomed Research International . 2018 (): 6828306 . |
143 | 30272361 | 2018 | Cui, Y., He, D. J. (2018) Mitochondrial tRNAIle A4317G mutation may be associated with hearing impairment in a Han Chinese family Mol Med Rep . 18 (6): 5159-5165 . |
144 | 30369864 | 2018 | Chinnery, P. F., Gomez-Duran, A. (2018) Oldies but goldies mtDNA population variants and neurodegenerative diseases Frontiers in Neuroscience . 12 (): 682 . |
145 | 30671084 | 2018 | Piotrowska-Nowak, A., Elson, J. L., Sobczyk-Kopciol, A., Piwonska, A., Puch-Walczak, A., Drygas, W., Ploski, R., Bartnik, E., Tonska, K. (2018) New mtDNA association model, MutPred variant load, suggests individuals with multiple mildly deleterious mtDNA variants are more likely to suffer from atherosclerosis Frontiers in Genetics . 9 (Jan): 702. [Curator's note, personal communication: diabetes patient D282 carries m.12278T-C and is GB seq MH120660.1] . |
146 | 30523288 | 2019 | Igumnova, V., Veidemane, L., Viksna, A., Capligina, V., Zole, E., Ranka, R. (2019) The prevalence of mitochondrial mutations associated with aminoglycoside-induced deafness in ethnic Latvian population: the appraisal of the evidence Journal of Human Genetics . 64 (3): 199-206 . |
147 | 30693673 | 2019 | Zhou, Y., Li, C., Li, M., Zhao, Z., Tian, S., Xia, H., Liu, P., Han, Y., Ren, R., Chen, J., Jia, C., Guo, W. (2019) Mutation analysis of common deafness genes among 1,201 patients with non-syndromic hearing loss in Shanxi Province Molecular Genetics and Genomic Medicine . 7 (3): e537 . |
148 | 31540444 | 2019 | Sazonova, M. A., Sinyov, V. V., Ryzhkova, A. I., Sazonova, M. D., Khasanova, Z. B., Shkurat, T. P., Karagodin, V. P., Orekhov, A. N., Sobenin, I. A. (2019) Creation of cybrid Cultures containing mtDNA mutations m.12315G>A and m.1555G>A, associated with atherosclerosis Biomolecules . 9 (9): 499 . |
149 | 32400865 | 2020 | Ding, Y., Lang, J., Zhang, J., Xu, J., Lin, X., Lou, X., Zheng, H., Huai, L. (2020) Screening for deafness-associated mitochondrial 12S rRNA mutations by using a multiplex allele-specific PCR method Bioscience Reports . 40 (5): BSR20200778 . |
150 | 32867169 | 2020 | Habbane, M., Llobet, L., Bayona-Bafaluy, M. P., Barcena, J. E., Ceberio, L., Gomez-Diaz, C., Gort, L., Artuch, R., Montoya, J., Ruiz-Pesini, E. (2020) Leigh Syndrome in a pedigree harboring the m.1555A>G mutation in the mitochondrial 12S rRNA Genes (Basel) . 11 (9): . |
151 | 32991883 | 2020 | Rovcanin, B., Jancic, J., Samardzic, J., Rovcanin, M., Nikolic, B., Ivancevic, N., Novakovic, I., Kostic, V. (2020) In silico model of mtDNA mutations effect on secondary and 3D structure of mitochondrial rRNA and tRNA in Leber's hereditary optic neuropathy Experimental Eye Research . 201 (): 108277 . |
152 | NA | 2021 | Amritkumar, P., Srisailapathy, C. R. S. (2021) Screening for mitochondrial A1555G mutation among aassortative mating hearing impaired families in South India: some vital insights New Frontiers in Medicine and Medical Research . 1 (): 17-27; https://doi.org/10.9734/bpi/nfmmr/v1/3292F . |
153 | 34467602 | 2021 | Yang, Z., Slone, J., Wang, X., Zhan, J., Huang, Y., Namjou, B., Kaufman, K. M., Pauciulo, M., Harley, J. B., Muglia, L. J., Chepelev, I., Huang, T. (2021) Validation of low-coverage whole-genome sequencing for mitochondrial DNA variants suggests mitochondrial DNA as a genetic cause of preterm birth Human Mutation 42 (12): 1602-1614 . |
154 | 34732400 | 2021 | Schon, K. R., Horvath, R., Wei, W., Calabrese, C., Tucci, A., Ibanez, K., Ratnaike, T., Pitceathly, R. D. S., Bugiardini, E., Quinlivan, R., Hanna, M. G., Clement, E., Ashton, E., Sayer, J. A., Brennan, P., Josifova, D., Izatt, L., Fratter, C., Nesbitt, V., Barrett, T., McMullen, D. J., Smith, A., Deshpande, C., Smithson, S. F., Festenstein, R., Canham, N., Caulfield, M., Houlden, H., Rahman, S., Chinnery, P. F., Genomics England Research Consortium (2021) Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study BMJ: British Medical Journal . 375 (): e066288 . |
155 | 35614445 | 2022 | Gu, P., Wang, G., Gao, X., Kang, D., Dai, P., Huang, S. (2022) Clinical and molecular findings in a Chinese family with a de novo mitochondrial A1555G mutation BMC Medical Genomics . 15 (1): 121 . |
156 | 36292680 | 2022 | Ding, Y., Teng, Y., Guo, Q., Leng, J. (2022) Mitochondrial tRNA(Gln) 4394C>T mutation may contribute to the clinical expression of 1555A>G-induced deafness Genes (Basel) 13 (10): 1794 |
157 | 37587338 | 2023 | Gupta, R., Kanai, M., Durham, T. J., Tsuo, K., McCoy, J. G., Kotrys, A. V., Zhou, W., Chinnery, P. F., Karczewski, K. J., Calvo, S. E., Neale, B. M., Mootha, V. K. (2023) Nuclear genetic control of mtDNA copy number and heteroplasmy in humans Nature . 620 (7975): 839-848 . |
158 | 37737178 | 2023 | Chen, C., Guan, M. X. (2023) Induced pluripotent stem cells: ex vivo models for human diseases due to mitochondrial DNA mutations Journal of Biomedical Science . 30 (1): 82 . |
159 | 37988592 | 2024 | Cannon, S. J., Hall, T., Hawkes, G., Colclough, K., Boggan, R. M., Wright, C. F., Pickett, S. J., Hattersley, A. T., Weedon, M. N., Patel, K. A. (2024) Penetrance and expressivity of mitochondrial variants in a large clinically unselected population Human Molecular Genetics . 33 (5): 465-474 . |
160 | 38465286 | 2024 | Nogueira, C., Pereira, C., Silva, L., Laranjeira, M., Lopes, A., Neiva, R., Rodrigues, E., Campos, T., Martins, E., Bandeira, A., Coelho, M., Magalhaes, M., Damasio, J., Gaspar, A., Janeiro, P., Gomes, A. L., Ferreira, A. C., Jacinto, S., Vieira, J. P., Diogo, L., Santos, H., Mendonca, C., Vilarinho, L. (2024) The genetic landscape of mitochondrial diseases in the next-generation sequencing era: a Portuguese cohort study Frontiers in Cell and Developmental Biology . 12 (): 1331351 . |