一个患有常染色体隐性遗传性视网膜色素变性的家族中的纯合子PDE6B突变。 - Suppr

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超能文献

A homozygous PDE6B mutation in a family with autosomal recessive retinitis pigmentosa.

作者信息

Danciger M, Heilbron V, Gao Y Q, Zhao D Y, Jacobson S G, Farber D B

机构信息

Jules Stein Eye Institute, UCLA School of Medicine, Los Angeles, CA; Loyola Marymount University, Los Angeles, CA, USA.

出版信息

Mol Vis. 1996 Sep 17;2:10.

PMID:9238087

Abstract

摘要

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A homozygous PDE6B mutation in a family with autosomal recessive retinitis pigmentosa.一个患有常染色体隐性遗传性视网膜色素变性的家族中的纯合子PDE6B突变。

Mol Vis. 1996 Sep 17;2:10.

[A study of PDE6B gene mutation and phenotype in Chinese cases with retinitis pigmentosa].中国视网膜色素变性患者PDE6B基因突变与表型的研究

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Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa.视网膜色素变性患者中视杆细胞磷酸二酯酶β亚基编码基因的隐性突变。

Nat Genet. 1993 Jun;4(2):130-4. doi: 10.1038/ng0693-130.

Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa.常染色体隐性遗传性视网膜色素变性中视杆细胞环磷酸鸟苷磷酸二酯酶α亚基编码基因突变的频率

Invest Ophthalmol Vis Sci. 1999 Jul;40(8):1859-65.

Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa.常染色体隐性遗传性视网膜色素变性中PDE6B基因的突变

Genomics. 1995 Nov 1;30(1):1-7. doi: 10.1006/geno.1995.0001.

Identification of a novel R552O mutation in exon 13 of the beta-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa.在一个患有常染色体隐性视网膜色素变性的西班牙家族中，视杆细胞磷酸二酯酶基因β亚基第13外显子中一种新型R552O突变的鉴定。

Hum Mutat. 1996;8(4):393-4. doi: 10.1002/humu.1380080403.

[Identification of 2 allelic mutations of the gene of the phosphodiesterase beta subunit in a Spanish family with recessive autosomic retinitis pigmentosa].[在一个患有隐性常染色体视网膜色素变性的西班牙家族中鉴定磷酸二酯酶β亚基基因的两个等位基因突变]

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Calcium channel blocker D-cis-diltiazem does not slow retinal degeneration in the PDE6B mutant rcd1 canine model of retinitis pigmentosa.钙通道阻滞剂D-顺式地尔硫䓬在色素性视网膜炎的PDE6B突变型rcd1犬模型中并不能减缓视网膜变性。

Mol Vis. 2001 Feb 25;7:42-7.

Screening of the gene encoding the alpha'-subunit of cone cGMP-PDE in patients with retinal degenerations.视网膜变性患者中视锥细胞环鸟苷酸磷酸二酯酶α'-亚基编码基因的筛查。

Invest Ophthalmol Vis Sci. 1999 Jul;40(8):1818-22.

Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase.由视杆细胞环磷酸鸟苷磷酸二酯酶α亚基突变引起的常染色体隐性视网膜色素变性。

Nat Genet. 1995 Dec;11(4):468-71. doi: 10.1038/ng1295-468.

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A novel intronic mutation of is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews.一种新的内含子突变是高加索犹太人常染色体隐性视网膜色素变性的主要病因。

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AAV-mediated Gene Therapy Halts Retinal Degeneration in PDE6β-deficient Dogs.腺相关病毒介导的基因疗法可阻止PDE6β缺陷型犬的视网膜退化。

Mol Ther. 2016 May;24(5):867-76. doi: 10.1038/mt.2016.37. Epub 2016 Feb 9.

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Next-generation sequencing revealed a novel mutation in the gene encoding the beta subunit of rod phosphodiesterase.下一代测序揭示了视杆细胞磷酸二酯酶β亚基编码基因中的一种新突变。

Ophthalmic Genet. 2014 Sep;35(3):142-50. doi: 10.3109/13816810.2014.915328. Epub 2014 May 14.

A truncated form of rod photoreceptor PDE6 β-subunit causes autosomal dominant congenital stationary night blindness by interfering with the inhibitory activity of the γ-subunit.视杆光感受器磷酸二酯酶6β亚基的截短形式通过干扰γ亚基的抑制活性导致常染色体显性遗传性先天性静止性夜盲。

PLoS One. 2014 Apr 23;9(4):e95768. doi: 10.1371/journal.pone.0095768. eCollection 2014.

Disease-associated mutations in CNGB3 promote cytotoxicity in photoreceptor-derived cells.CNGB3基因中的疾病相关突变会促进光感受器衍生细胞的细胞毒性。

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