粉状白内障
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English Journal
- A novel Cx50 (GJA8) p.H277Y mutation associated with autosomal dominant congenital cataract identified with targeted next-generation sequencing.
- Chen C1, Sun Q, Gu M, Liu K, Sun Y, Xu X.
- Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie.Graefes Arch Clin Exp Ophthalmol.2015 Jun;253(6):915-24. doi: 10.1007/s00417-015-3019-x. Epub 2015 May 7.
- BACKGROUND: To unravel the molecular genetic background responsible for autosomal dominant congenital pulverulent nuclear cataracts in a four-generation Chinese family.METHODS: Family history data were collected, ophthalmological examinations were performed, and genomic DNA was extracted from periph
- PMID 25947639
- Mutation Analysis in Chinese Families with Autosomal Dominant Hereditary Cataracts.
- Yang Z1, Li Q, Ma X, Zhu SQ.
- Current eye research.Curr Eye Res.2014 Dec 30:1-7. [Epub ahead of print]
- Abstract Purpose: To identify the molecular basis and clinical phenotype in three Chinese families with hereditary cataracts. Methods: Detailed family history and clinical data were recorded. The phenotypes were documented using slit-lamp photography. Candidate genes sequencing was performed to scre
- PMID 25549162
- Differential effect of cataract-associated mutations in MAF on transactivation of MAF target genes.
- Vanita V1, Guo G, Singh D, Ott CE, Robinson PN.
- Molecular and cellular biochemistry.Mol Cell Biochem.2014 Nov;396(1-2):137-45. doi: 10.1007/s11010-014-2150-z. Epub 2014 Jul 27.
- Three mutations in the highly conserved DNA-binding region of c-MAF (R288P, K297R, and R299S) are associated with phenotypically distinct forms of autosomal dominant congenital cataract. However, the molecular mechanisms underlying this phenotypic diversity remain unclear. In this work, we have inve
- PMID 25064449
Japanese Journal
- Pulverulent cataract with variably associated microcornea and iris coloboma in a MAF mutation family
- A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q
- A new locus for dominant "zonular pulverulent" cataract, on chromosome 13
Related Links
- DISCUSSION In this three generation family five members have autosomal dominant progressive cataract. All have a mutation in the DNA binding domain of the bZIP transcription factor, MAF. In one case the pulverulent opacities are ...
- Coppock-like cataracts consist of bilateral progressive opacities of the embryonic lens nucleus. They are characterized by a pulverulent opacification with a gray disc appearance associated with variable zonular opacities. Visual ...