SPARCL1 sparkles new insight into corneal dystrophies.
作者信息
Turunen Joni A
机构信息
Eye Genetics Group, Folkhälsan Research Center, Biomedicum Helsinki, Helsinki, Finland.
Ophthalmic Genetics and Rare Eye Diseases Service, Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
出版信息
Eur J Hum Genet. 2024 Dec;32(12):1524-1525. doi: 10.1038/s41431-024-01709-5. Epub 2024 Oct 11.
Abstract
摘要
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本文引用的文献
1
Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variant.常染色体显性基质型角膜营养不良伴 SPARCL1 错义变异。
Eur J Hum Genet. 2024 Dec;32(12):1583-1589. doi: 10.1038/s41431-024-01687-8. Epub 2024 Aug 21.
2
IC3D Classification of Corneal Dystrophies-Edition 3.角膜营养不良的IC3D分类 - 第3版
Cornea. 2024 Apr 1;43(4):466-527. doi: 10.1097/ICO.0000000000003420. Epub 2024 Feb 12.
3
Update on the Corneal Dystrophies-Genetic Testing and Therapy.角膜营养不良的最新研究进展-基因检测和治疗。
Cornea. 2022 Nov 1;41(11):1337-1344. doi: 10.1097/ICO.0000000000002857. Epub 2022 Jul 4.
4
Posterior amorphous corneal dystrophy is associated with a deletion of small leucine-rich proteoglycans on chromosome 12.后部无定形角膜营养不良与12号染色体上富含亮氨酸的小分子蛋白聚糖缺失有关。
PLoS One. 2014 Apr 23;9(4):e95037. doi: 10.1371/journal.pone.0095037. eCollection 2014.
5
Matricellular hevin regulates decorin production and collagen assembly.基质细胞蛋白hevin调节核心蛋白聚糖的产生和胶原蛋白组装。
J Biol Chem. 2006 Sep 15;281(37):27621-32. doi: 10.1074/jbc.M510507200. Epub 2006 Jul 14.
6
Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene.由核心蛋白聚糖基因突变引起的先天性角膜基质营养不良。
Invest Ophthalmol Vis Sci. 2005 Feb;46(2):420-6. doi: 10.1167/iovs.04-0804.
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