Science, medicine, and the future: New interventions in hearing impairment.
作者信息
Steel K P
机构信息
MRC Institute of Hearing Research, University Park, Nottingham NG7 2RD.
出版信息
BMJ. 2000 Mar 4;320(7235):622-5. doi: 10.1136/bmj.320.7235.622.
Abstract
摘要
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Science, medicine, and the future: New interventions in hearing impairment.科学、医学与未来：听力障碍的新干预措施
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本文引用的文献
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Dev Biol. 1999 Oct 15;214(2):331-41. doi: 10.1006/dbio.1999.9424.
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Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus.
Nat Genet. 1999 Sep;23(1):16-8. doi: 10.1038/12612.
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Mutation of the Na-K-Cl co-transporter gene Slc12a2 results in deafness in mice.钠-钾-氯协同转运蛋白基因Slc12a2的突变导致小鼠耳聋。
Hum Mol Genet. 1999 Aug;8(8):1579-84. doi: 10.1093/hmg/8.8.1579.
4
Deafness and imbalance associated with inactivation of the secretory Na-K-2Cl co-transporter.与分泌型钠-钾-2氯协同转运蛋白失活相关的耳聋和平衡失调。
Nat Genet. 1999 Jun;22(2):192-5. doi: 10.1038/9713.
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Deafness genes: expressions of surprise.耳聋基因：令人惊讶的表达。
Trends Genet. 1999 Jun;15(6):207-11. doi: 10.1016/s0168-9525(99)01753-9.
6
Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling.由于连接蛋白-26基因缺陷导致的儿童期常见耳聋形式DFNB1的临床特征：对遗传咨询的意义。
Lancet. 1999 Apr 17;353(9161):1298-303. doi: 10.1016/S0140-6736(98)11071-1.
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A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness.编码 otoferlin（一种 FER-1 样蛋白）的 OTOF 基因突变会导致 DFNB9，这是一种非综合征性耳聋。
Nat Genet. 1999 Apr;21(4):363-9. doi: 10.1038/7693.
8
KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness.KCNQ4是一种在感觉性外毛细胞中表达的新型钾通道，在显性遗传性耳聋中发生突变。
Cell. 1999 Feb 5;96(3):437-46. doi: 10.1016/s0092-8674(00)80556-5.
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Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment.编码缝隙连接蛋白β-3的基因中的突变与常染色体显性遗传性听力障碍相关。
Nat Genet. 1998 Dec;20(4):370-3. doi: 10.1038/3845.
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Mutations in a plasma membrane Ca2+-ATPase gene cause deafness in deafwaddler mice.质膜钙ATP酶基因突变导致耳聋摇摆鼠耳聋。
Nat Genet. 1998 Aug;19(4):390-4. doi: 10.1038/1284.
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