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Identification of a new mutation of the myosin VII head region in Usher syndrome type 1.

作者信息

Liu X Z, Newton V E, Steel K P, Brown S D

机构信息

Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, Imperial College of Science, Technology and Medicine, London, UK.

出版信息

Hum Mutat. 1997;10(2):168-70. doi: 10.1002/(SICI)1098-1004(1997)10:2<168::AID-HUMU10>3.0.CO;2-Y.

DOI:10.1002/(SICI)1098-1004(1997)10:2<168::AID-HUMU10>3.0.CO;2-Y
PMID:9259201
Abstract
摘要

相似文献

1
Identification of a new mutation of the myosin VII head region in Usher syndrome type 1.
Hum Mutat. 1997;10(2):168-70. doi: 10.1002/(SICI)1098-1004(1997)10:2<168::AID-HUMU10>3.0.CO;2-Y.
2
Identification of three novel mutations in the MYO7A gene.
Hum Mutat. 1999 Aug 19;14(2):181. doi: 10.1002/(SICI)1098-1004(1999)14:2<181::AID-HUMU11>3.0.CO;2-3.
3
Novel mutations in MYO7A and USH2A in Usher syndrome.耳-肾综合征中MYO7A和USH2A的新型突变。
Ophthalmic Genet. 2005 Mar;26(1):25-9. doi: 10.1080/13816810590918118.
4
Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.34例Ⅰ型Usher综合征患者中发现12种新的肌球蛋白VIIA突变：遗传异质性的确认
Hum Mutat. 1999;13(2):133-40. doi: 10.1002/(SICI)1098-1004(1999)13:2<133::AID-HUMU5>3.0.CO;2-U.
5
Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.在西班牙分别患有I型和II型Usher综合征的患者中，肌球蛋白VIIA（MYO7A）和usherin（USH2A）发生了突变。
Hum Mutat. 2002 Jul;20(1):76-7. doi: 10.1002/humu.9042.
6
Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2).西班牙II型Usher综合征（USH2）患者中2314delG突变的患病率
Ophthalmic Genet. 2000 Jun;21(2):123-8.
7
Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib.
Mol Cell Probes. 1998 Dec;12(6):417-20. doi: 10.1006/mcpr.1998.0202.
8
Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D.1D型Usher综合征患者新型CDH23突变的鉴定及体外表达
Hum Mutat. 2002 Mar;19(3):268-73. doi: 10.1002/humu.10049.
9
Ala397Asp mutation of myosin VIIA gene segregating in a Spanish family with type-Ib Usher syndrome.
Hum Genet. 1998 Jun;102(6):691-4. doi: 10.1007/s004390050763.
10
Spectrum of mutations in USH2A in British patients with Usher syndrome type II.英国II型Usher综合征患者USH2A基因的突变谱
Exp Eye Res. 2001 May;72(5):503-9. doi: 10.1006/exer.2000.0978.

引用本文的文献

1
Mutations in Drosophila crinkled/Myosin VIIA disrupt denticle morphogenesis.果蝇卷曲蛋白/肌球蛋白 VIIA 突变破坏小刺突形态发生。
Dev Biol. 2021 Feb;470:121-135. doi: 10.1016/j.ydbio.2020.11.007. Epub 2020 Nov 25.
2
Molecular Assembly and Structural Plasticity of Sensory Ribbon Synapses-A Presynaptic Perspective.感觉纤毛突触的分子组装和结构可塑性——从突触前角度看。
Int J Mol Sci. 2020 Nov 19;21(22):8758. doi: 10.3390/ijms21228758.
3
Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c.
基因治疗可恢复1c型Usher综合征小鼠模型的听觉和前庭功能。
Nat Biotechnol. 2017 Mar;35(3):264-272. doi: 10.1038/nbt.3801. Epub 2017 Feb 6.
4
Cargo binding activates myosin VIIA motor function in cells.货物结合激活细胞中的肌球蛋白 VIIA 运动功能。
Proc Natl Acad Sci U S A. 2011 Apr 26;108(17):7028-33. doi: 10.1073/pnas.1009188108. Epub 2011 Apr 11.
5
A Myo7a mutation cosegregates with stereocilia defects and low-frequency hearing impairment.Myo7a突变与静纤毛缺陷和低频听力障碍共分离。
Mamm Genome. 2004 Sep;15(9):686-97. doi: 10.1007/s00335-004-2344-x.
6
At the speed of sound: gene discovery in the auditory system.以音速：听觉系统中的基因发现
Am J Hum Genet. 2001 Nov;69(5):923-35. doi: 10.1086/324122. Epub 2001 Sep 27.
7
Myosins and deafness.肌球蛋白与耳聋
J Muscle Res Cell Motil. 1999 Apr;20(3):241-8. doi: 10.1023/a:1005403725521.
8
Myosin VIIa participates in opsin transport through the photoreceptor cilium.肌球蛋白VIIa通过光感受器纤毛参与视蛋白运输。
J Neurosci. 1999 Aug 1;19(15):6267-74. doi: 10.1523/JNEUROSCI.19-15-06267.1999.
9
Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins.来自不同地区的1B型Usher综合征家族中人类肌球蛋白VIIA基因全部49个外显子的突变谱及单倍型分析。
Am J Hum Genet. 1997 Oct;61(4):813-21. doi: 10.1086/514899.