Polymorphic variation of RPGRIP1L and IQCB1 as modifiers of X-linked retinitis pigmentosa caused by mutations in RPGR.
作者信息
Fahim Abigail T, Bowne Sara J, Sullivan Lori S, Webb Kaylie D, Williams Jessica T, Wheaton Dianna K, Birch David G, Daiger Stephen P
机构信息
Human Genetics Center, School of Public Health, University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
出版信息
Adv Exp Med Biol. 2012;723:313-20. doi: 10.1007/978-1-4614-0631-0_41.
Abstract
摘要
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Polymorphic variation of RPGRIP1L and IQCB1 as modifiers of X-linked retinitis pigmentosa caused by mutations in RPGR.RPGRIP1L和IQCB1的多态性变异作为RPGR突变所致X连锁视网膜色素变性的修饰因子
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本文引用的文献
1
Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration.色素性视网膜炎 GTP 酶调节因子（RPGR）与 RAB8A GTP 酶的相互作用：对纤毛功能障碍和光感受器变性的影响。
Hum Mol Genet. 2010 Sep 15;19(18):3591-8. doi: 10.1093/hmg/ddq275. Epub 2010 Jul 14.
2
A method and server for predicting damaging missense mutations.一种预测有害错义突变的方法及服务器。
Nat Methods. 2010 Apr;7(4):248-9. doi: 10.1038/nmeth0410-248.
3
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.AHI1 对于光感受器外节的发育是必需的，并且是肾性尿崩症中视网膜变性的修饰因子。
Nat Genet. 2010 Feb;42(2):175-80. doi: 10.1038/ng.519. Epub 2010 Jan 17.
4
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.RPGRIP1L 中的常见等位基因是纤毛病中视网膜变性的修饰因子。
Nat Genet. 2009 Jun;41(6):739-45. doi: 10.1038/ng.366. Epub 2009 May 10.
5
Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR gene.在RPGR基因外显子ORF15中存在相同突变的异卵双胞胎中的不一致表型。
Arch Ophthalmol. 2008 Mar;126(3):379-84. doi: 10.1001/archophthalmol.2007.72.
6
PLINK: a tool set for whole-genome association and population-based linkage analyses.PLINK：一个用于全基因组关联分析和基于群体的连锁分析的工具集。
Am J Hum Genet. 2007 Sep;81(3):559-75. doi: 10.1086/519795. Epub 2007 Jul 25.
7
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.CEP290（NPHP6）突变的多效性作用扩展至梅克尔综合征。
Am J Hum Genet. 2007 Jul;81(1):170-9. doi: 10.1086/519494. Epub 2007 Jun 4.
8
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.睫状体基因RPGRIP1L在小脑-眼-肾综合征（B型乔布综合征）和梅克尔综合征中发生突变。
Nat Genet. 2007 Jul;39(7):875-81. doi: 10.1038/ng2039. Epub 2007 Jun 10.
9
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.编码基体蛋白RPGRIP1L（一种肾囊肿蛋白-4相互作用蛋白）的基因突变会导致Joubert综合征。
Nat Genet. 2007 Jul;39(7):882-8. doi: 10.1038/ng2069. Epub 2007 Jun 10.
10
Long-term visual prognoses in patients with retinitis pigmentosa: the Ludwig von Sallmann lecture.视网膜色素变性患者的长期视觉预后：路德维希·冯·萨尔曼讲座
Exp Eye Res. 2007 Jul;85(1):7-14. doi: 10.1016/j.exer.2007.03.001. Epub 2007 Mar 7.
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