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HUMAN MITOCHONDRIAL tRNA MUTATIONS IN MATERNALLY INHERITED DEAFNESS 被引量:2
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作者 ZHENG Jing GONG Sha-sha +2 位作者 TANG Xiao-wen ZHU Yi GUAN Min-xin 《Journal of Otology》 2013年第1期44-50,共7页
Mutations in mitochondrial tRNA genes have been shown to be associated with maternally inherited syn-dromic and non-syndromic deafness. Among those, mutations such as tRNALeu(UUR) 3243A>G associated with syndromic ... Mutations in mitochondrial tRNA genes have been shown to be associated with maternally inherited syn-dromic and non-syndromic deafness. Among those, mutations such as tRNALeu(UUR) 3243A>G associated with syndromic deafness are often present in heteroplasmy, and the non-syndromic deafness-associated tRNA mu-tations including tRNASer(UCN) 7445A>G are often in homoplasmy or in high levels of heteroplasmy. These tRNA mutations are the primary factors underlying the development of hearing loss. However, other tRNA mutations such as tRNAThr 15927G>A and tRNASer(UCN) 7444G>A are insufficient to produce a deafness phe-notype, but always act in synergy with the primary mitochondrial DNA mutations, and can modulate their phenotypic manifestation. These tRNA mutations may alter the structure and function of the corresponding mitochondrial tRNAs and cause failures in tRNAs metabolism. Thereby, the impairment of mitochondrial protein synthesis and subsequent defects in respiration caused by these tRNA mutations, results in mitochon-drial dysfunctions and eventually leads to the development of hearing loss. Here, we summarized the deaf-ness-associated mitochondrial tRNA mutations and discussed the pathophysiology of these mitochondrial tRNA mutations, and we hope these data will provide a foundation for the early diagnosis, management, and treatment of maternally inherited deafness. 展开更多
关键词 DEAFNESS mitochondria tRNA primary mutation secondary mutation maternally inherited
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Prognostic value of JAK2, MPL and CALR mutations in Chinese patients with primary myelofibrosis
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作者 徐泽锋 《China Medical Abstracts(Internal Medicine)》 2016年第3期178-,共1页
Objective To evaluate the prognostic value of JAK2,MPL and CALR mutations in Chinese patients with primary myelofibrosis(PMF).Methods Four hundred and two Chinese patients with PMF were retrospectively analyzed.The Ka... Objective To evaluate the prognostic value of JAK2,MPL and CALR mutations in Chinese patients with primary myelofibrosis(PMF).Methods Four hundred and two Chinese patients with PMF were retrospectively analyzed.The Kaplan-Meier method,the Log-rank test,the likelihood ratio test and the Cox 展开更多
关键词 MPL and CALR mutations in Chinese patients with primary myelofibrosis Prognostic value of JAK2 JAK
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Diagnostic potential of mitochondrial DNA assessment in patients with optic neuropathy
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作者 冯雪梅 濮伟 +2 位作者 高殿文 Yasushi Isashiki Norio Ohba 《Chinese Medical Journal》 SCIE CAS CSCD 2000年第8期71-74,共4页
关键词 bilateral optic neuropathy mitochondrial DNA primary mutations
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