Mitochondrial DNA mutations and pathogenicity.
作者信息
Chinnery P F, Turnbull D M, Howell N, Andrews R M
出版信息
J Med Genet. 1998 Aug;35(8):701-2. doi: 10.1136/jmg.35.8.701-a.
Abstract
摘要
相似文献
1
Mitochondrial DNA mutations and pathogenicity.线粒体DNA突变与致病性。
J Med Genet. 1998 Aug;35(8):701-2. doi: 10.1136/jmg.35.8.701-a.
2
Screening of the COL8A2 gene in an Australian family with early-onset Fuchs' endothelial corneal dystrophy.对一个患有早发性富克斯内皮性角膜营养不良的澳大利亚家族进行COL8A2基因筛查。
Clin Exp Ophthalmol. 2014 Mar;42(2):198-200. doi: 10.1111/ceo.12122. Epub 2013 May 22.
3
Parents of Patients With Congenital Hereditary Endothelial Dystrophy Should Be Evaluated for Fuchs Endothelial Corneal Dystrophy.
Cornea. 2017 Dec;36(12):e34-e35. doi: 10.1097/ICO.0000000000001397.
4
Familial presence of early onset Fuchs' corneal endothelial dystrophy, a report of two rare cases.家族性早发性富克斯角膜内皮营养不良：两例罕见病例报告
J Pak Med Assoc. 2012 Jul;62(7):728-30.
5
Fuch's corneal dystrophy in a patient with mitochondrial DNA mutations.一名患有线粒体DNA突变患者的富克斯角膜营养不良
J Med Genet. 1998 Mar;35(3):258-9. doi: 10.1136/jmg.35.3.258.
6
[Review on corneal dystrophies].[角膜营养不良综述]
J Fr Ophtalmol. 1999 Mar;22(2):226-33.
7
8
[Fuchs' syndrome].[富克斯综合征]
Med Arh. 1977 Nov-Dec;31(6):371-3.
9
Fuchs Endothelial Corneal Dystrophy: Strong Association with rs613872 Not Paralleled by Changes in Corneal Endothelial TCF4 mRNA Level.富克斯角膜内皮营养不良：与rs613872的强关联未伴随着角膜内皮TCF4 mRNA水平的变化。
Biomed Res Int. 2015;2015:640234. doi: 10.1155/2015/640234. Epub 2015 Sep 16.
10
Trinucleotide Repeat Expansion in the Transcription Factor 4 (TCF4) Gene Leads to Widespread mRNA Splicing Changes in Fuchs' Endothelial Corneal Dystrophy.转录因子4（TCF4）基因中的三核苷酸重复序列扩增导致富克斯角膜内皮营养不良中广泛的mRNA剪接变化。
Invest Ophthalmol Vis Sci. 2017 Jan 1;58(1):343-352. doi: 10.1167/iovs.16-20900.
本文引用的文献
1
UK centres are not following the Royal College of Pathologists' recommendations for storage of Guthrie cards: a national policy is needed.英国各中心未遵循皇家病理学家学院关于保存格思里卡片的建议：需要一项国家政策。
J Med Genet. 1998 Mar;35(3):263. doi: 10.1136/jmg.35.3.263.
2
Fuch's corneal dystrophy in a patient with mitochondrial DNA mutations.一名患有线粒体DNA突变患者的富克斯角膜营养不良
J Med Genet. 1998 Mar;35(3):258-9. doi: 10.1136/jmg.35.3.258.
3
"Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndrome.科芬-洛里综合征中的“猝倒症”与肌肉超声异常
J Med Genet. 1998 Feb;35(2):94-8. doi: 10.1136/jmg.35.2.94.
4
Mitochondrial medicine.线粒体医学
QJM. 1997 Nov;90(11):657-67. doi: 10.1093/qjmed/90.11.657.
5
Clinical features, investigation, and management of patients with defects of mitochondrial DNA.线粒体DNA缺陷患者的临床特征、检查及管理
J Neurol Neurosurg Psychiatry. 1997 Nov;63(5):559-63. doi: 10.1136/jnnp.63.5.559.
6
Leber hereditary optic neuropathy: how do mitochondrial DNA mutations cause degeneration of the optic nerve?莱伯遗传性视神经病变：线粒体DNA突变如何导致视神经变性？
J Bioenerg Biomembr. 1997 Apr;29(2):165-73. doi: 10.1023/a:1022690030664.
7
Mitochondrial DNA mutations and pathogenesis.线粒体DNA突变与发病机制。
J Bioenerg Biomembr. 1997 Apr;29(2):131-49. doi: 10.1023/a:1022685929755.
8
Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484.单倍型和系统发育分析表明，一种欧洲特有的线粒体DNA背景通过增加原发性突变11778和14484的外显率，在Leber遗传性视神经病变的表达中发挥作用。
Am J Hum Genet. 1997 May;60(5):1107-21.
9
The other human genome: mitochondrial DNA and disease.另一个人类基因组：线粒体DNA与疾病
Nat Med. 1996 Oct;2(10):1065-8. doi: 10.1038/nm1096-1065.
10
Long-term results after penetrating keratoplasty for Fuchs' endothelial dystrophy.
Arch Ophthalmol. 1996 Jan;114(1):15-8. doi: 10.1001/archopht.1996.01100130013002.
Zotero 插件