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| 1 | Mitochondrial tRNA^(Glu) A14693G variant may modulate the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in a Han Chinese family显示文摘Mutations in mitochondrial 12S rRNA gene are one of the most important causes of aminoglycoside-induced and nonsyndromic hear- ing loss. Here we report the characterization of one Han Chinese pedigree with aminoglycoside-induced and nonsyndromic hearing loss. This Chinese family carrying the 12S rRNA A1555G mutation exhibited high penetrance and expressivity of hearing impairment. In par- ticular, penetrances of hearing loss in this family pedigree were 43.8% and 25%, respectively, when aminoglycoside-induced hearing loss was included or excluded. Mutational analysis of entire mitochondrial genomes in this family showed the homoplasmic A1555G mutation and a set of variants belonging to haplogroup Y2. Of these, the A14693G variant occurred at the extremely conserved nucleotide (conven- tional position 54) of the TΨC-loop of tRNAGlu and was absent in 156 Chinese controls. Nucleotides at position 54 of tRNAs are often modified, thereby contributing to the structural formation and stabilization of functional tRNAs. Thus, the structural alteration of tRNA by the A14693G variant may lead to a failure in tRNA metabolism and impair mitochondrial protein synthesis, thereby worsening mito- chondrial dysfunctions altered by the A1555G mutation. Therefore, the tRNAGlu A14693G variant may have a potential modifier role in increasing the penetrance and expressivity of the deafness-associated A1555G mutation in this Chinese pedigree. | Yu Ding Yongyan Li Junyan You Li Yang Bobei Chen Jianxin Lu Min-Xin Guan | 2009 | Journal of Genetics and Genomics2009，36，4： | 7 |
| 2 | The current management of hepatoblastoma: a combination of chemotherapy, conventional resection, and liver transplantation 显示文摘 | Tiao GM Bobey N Allen S Nieves N Alonso M Bucuvalas J | 2005 | J Pediatr2005，146，2： | 1 |
| 3 | Dual-wavelength vertical scanning low-coherence interferometric microscope显示文摘 | Jan Niehues Peter Lehmann Klaus Bobey | 2007 | Applied Optics2007，46，29： | 1 |
| 4 | Marrow stromal stem cells 显示文摘 | Bianco P C ehron Bobey P | 2000 | J Clin Invest2000，105，12： | 1 |
| 5 | The current management of hepatoblastoma:a combination of chemotherapy,conventional resection,and live tranaplantation显示文摘 | Tiao GM Bobey N Allen S | | 0，，02： | 1 |
| 6 | The current management of hepatoblastoma:a combination of chemotherapy,conventional resection and liver mansplantation显示文摘 | Tiao GM Bobey N Allen S | 2005 | J Pediatr2005，146，2： | 1 |
| 7 | The Effect of EDI on Marketing Channel Relationships in Retailing 显示文摘 | Vijayasarathy L R Bobey D | 1997 | Information & Management1997，33，2： | 1 |
| 8 | The effect of EDI on marketing channel relationships in retailing显示文摘 | BOBEY D | 1997 | Information & Management1997，33，2： | 1 |
| 9 | The current management of hepatohlastoma:A combination of chemotherapy,conventional resection and liver transplantation显示文摘 | Tiao GM Bobey N AHen S | | 0，，02： | 1 |
| 10 | The current management of hepatoblastoma:A combination of chemotherapy, conventional resection, and liver transplantation 显示文摘 | Tiao GM Bobey N Allen S | 2005 | J Pediatr2005，146，2： | 1 |
| 11 | The current management of hepatoblastoma : A combination of chemotherapy, conventional resection, and liver transplantation 显示文摘 | Tiao GM Bobey N Allen S | 2005 | J Pediatr2005，146，2： | 1 |
| 12 | Dual-wavelength vertical scanning low-coherence interferometric microscope显示文摘 | Niehues J Lehmann P Bobey K | 2007 | Appl Opt2007，46，29： | 1 |
| 13 | Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss显示文摘 | Jianxin Lu Zhiyuan Li Yi Zhu Aifen Yang Ronghua Li Jing Zheng Qin Cai Guanghua Peng Wuwei Zheng Xiaowen Tang Bobei Chen Jianfu Chen Zhisu Liao Li Yang Yongyan Li Junyan You Yu Ding Hong Yu Jindan Wang Dongmei Sun Jianyue Zhao Ling Xue Jiying Wang Min-Xin | 2010 | Mitochondrion2010，，4： | 1 |
| 14 | The current management of hepa- toblastoma:a combination of chemotherapy,conventional resection,and liver transplantation显示文摘 | Tiao GM Bobey NtAllen S | 2005 | J Pediatr2005，146，2： | 1 |
| 15 | The current management of hepatoblastoma: a combination of chemotherapy, conventional resection, and liver transplantation显示文摘 | Tiao GM Bobey N Allen S | 2005 | J Pediatr2005，146，2： | 1 |
| 16 | The current management of hepatoblastoma: a combination of chemotherapy, conventional resection, and liver transplantation 显示文摘 | Tiao GM Bobey N Allen S | 2005 | J Pediatr2005，146，2： | 1 |
| 17 | The current manage- ment of hepatoblastoma: a combination of chemothera- py, conventional resection, and liver transplantation显示文摘 | Tiao G M Bobey N Allen S | 2005 | J Pediatr2005，146，： | 1 |
| 18 | The Effect of EDI on Marketing Channel Relationships in Retailing显示文摘 | VIJAYASARATHY LR BOBEY D | 1997 | Information & Management1997，33，2： | 1 |
| 19 | The current management of hepatoblastoma: A combination of chemotherapy, conventional resection and liver transplantation 显示文摘 | Tiao GM Bobey N Allen S | 2005 | J Pediatr2005，146，2： | 1 |
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