PharmGKB summary: very important pharmacogene information for MT-RNR1.
作者信息
Barbarino Julia M, McGregor Tracy L, Altman Russ B, Klein Teri E
机构信息
Departments of aGenetics bBioengineering, Stanford University, Stanford, California cDepartment of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
出版信息
Pharmacogenet Genomics. 2016 Dec;26(12):558-567. doi: 10.1097/FPC.0000000000000247.
Abstract
摘要
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Nat Rev Drug Discov. 2015 May;14(5):346-65. doi: 10.1038/nrd4533. Epub 2015 Mar 20.
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Audio profiles in mitochondrial deafness m.1555A>G and m.3243A>G show distinct differences.线粒体耳聋m.1555A>G和m.3243A>G的听力图显示出明显差异。
Med Sci Monit. 2015 Mar 6;21:694-700. doi: 10.12659/MSM.890965.
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Acta Otolaryngol. 2015 Jan;135(1):26-34. doi: 10.3109/00016489.2014.949849. Epub 2014 Nov 7.
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Mitochondrial m.1584A 12S m62A rRNA methylation in families with m.1555A>G associated hearing loss.患有m.1555A>G相关听力损失的家系中线粒体m.1584A 12S m62A rRNA甲基化
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Mitochondrial mutation m.1555A>G as a risk factor for failed newborn hearing screening in a large cohort of preterm infants.线粒体突变m.1555A>G作为一大群早产儿新生儿听力筛查失败的危险因素。
BMC Pediatr. 2014 Aug 26;14:210. doi: 10.1186/1471-2431-14-210.
10
Normal hearing in a child with the m.1555A>G mutation despite repeated exposure to aminoglycosides. Has the penetrance of this pharmacogenetic interaction been overestimated?尽管反复接触氨基糖苷类药物，但携带m.1555A>G突变的儿童听力正常。这种药物遗传学相互作用的外显率是否被高估了？
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