Genetics of aniridia and anterior segment dysgenesis.
作者信息
Churchill A, Booth A
机构信息
Molecular Medicine Unit, University of Leeds, St James's University Hospital.
出版信息
Br J Ophthalmol. 1996 Jul;80(7):669-73. doi: 10.1136/bjo.80.7.669.
Abstract
摘要
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Br J Ophthalmol. 1996 Jul;80(7):669-73. doi: 10.1136/bjo.80.7.669.
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本文引用的文献
1
Hereditary posterior polar cataract with report of a pedigree.遗传性后极性白内障并附一家系报告
Br J Ophthalmol. 1955 Jun;39(6):374-9. doi: 10.1136/bjo.39.6.374.
2
PAX6 mutations in aniridia.无虹膜中的PAX6突变。
Hum Mol Genet. 1993 Jul;2(7):915-20. doi: 10.1093/hmg/2.7.915.
3
Absence of PAX6 gene mutations in Gillespie syndrome (partial aniridia, cerebellar ataxia, and mental retardation).吉列斯皮综合征（部分无虹膜、小脑共济失调和智力发育迟缓）中PAX6基因突变的缺失
Genomics. 1994 Jan 1;19(1):145-8. doi: 10.1006/geno.1994.1024.
4
Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly.在包括彼得斯异常在内的多种眼前节畸形中发现了PAX6基因座的突变。
Nat Genet. 1994 Feb;6(2):168-73. doi: 10.1038/ng0294-168.
5
Quail Pax-6 (Pax-QNR) encodes a transcription factor able to bind and trans-activate its own promoter.鹌鹑Pax-6（Pax-QNR）编码一种能够结合并反式激活其自身启动子的转录因子。
Cell Growth Differ. 1993 Dec;4(12):1041-50.
6
Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma.小儿实体瘤肺泡横纹肌肉瘤中PAX3配对盒基因的重排。
Nat Genet. 1993 Feb;3(2):113-7. doi: 10.1038/ng0293-113.
7
Nucleotides flanking a conserved TAAT core dictate the DNA binding specificity of three murine homeodomain proteins.保守TAAT核心序列侧翼的核苷酸决定了三种小鼠同源结构域蛋白的DNA结合特异性。
Mol Cell Biol. 1993 Apr;13(4):2354-65. doi: 10.1128/mcb.13.4.2354-2365.1993.
8
Human haploinsufficiency--one for sorrow, two for joy.人类单倍剂量不足——一个带来悲伤，两个带来喜悦。
Nat Genet. 1994 May;7(1):5-7. doi: 10.1038/ng0594-5.
9
A mutation in the Pax-6 gene in rat small eye is associated with impaired migration of midbrain crest cells.大鼠小眼症中Pax-6基因的突变与中脑嵴细胞迁移受损有关。
Nat Genet. 1993 Apr;3(4):299-304. doi: 10.1038/ng0493-299.
10
Two independent and interactive DNA-binding subdomains of the Pax6 paired domain are regulated by alternative splicing.Pax6配对结构域的两个独立且相互作用的DNA结合亚结构域受可变剪接调控。
Genes Dev. 1994 Sep 1;8(17):2022-34. doi: 10.1101/gad.8.17.2022.
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