Here we add three novel PAX6 gene mutations to the existing spectrum of mutations in south Indian population, which is not a well-studied ethnic group. Our study supports the hypothesis that mutation in the PAX6 gene correlates with expression of aniridia.Vijayalakshmi....
These analyses failed to reveal any mutation in the toy gene of ey2 mutant flies. The toy locus of the eyR mutant contained, however, two irrelevant sequence alterations, that is, a polymorphic C-to-T substitution in intron 5 and an insertion of the 429 bp LTR sequence of the mesoderm-...
Mutation of the PAX6 gene in patients with autosomal dominant keratitis. The SeyNeu mouse results from a mutation in the Pax-6 exon 10 splice-donor site that produces a PAX6 protein truncated from the same point as occurs... F Mirzayans,WG Pearce,IM Macdonald,... - 《American Journal of...
The molecular basis of the mouse mutation splotch (Sp), which is associated with spina bifida and exencephaly, was analyzed at three of its alleles, Sp, Sp2H, and Spr. We mapped the paired box gene Pax-3 within the Inha to Akp3 interval,... Douglas,J.,Epstein,... - 《Cell》 被...
Paired-box (PAX) genes encode a family of highly conserved transcription factors found in vertebrates and invertebrates. PAX proteins are defined by the pr
Ma J, Lin K, Jiang HC, et al. A novel mutation of the PAX3 gene in a Chinese family with Waardenburg syndrome type I. Mol Genet Genomic Med. 2019;7(7):e00798. doi:10.1002/mgg3.798 8年丰富临床服务经验 分...
Mutations in Pax -6 result in eye defects in flies, mice, and humans, and ectopic expression of this gene can trigger the development of ectopic compound eyes in flies. Likewise, mutation of other Pax genes in vertebrates results in the failure of specific differentiation programs鈥 Pax -1 ...
MicroRNA-125a is over-expressed in insulin target tissues in a spontaneous rat model of Type 2 Diabetes Background MicroRNAs (miRNAs) are non-coding RNA molecules involved in post-transcriptional control of gene expression of a wide number of genes, including... BM Herrera,HE Lockstone,JM ...
Histogenesis of the cerebral cortex in rat fetuses with a mutation in the Pax-6 gene The embryonic development of the cerebral cortex was histologically examined in rat homozygotes with a mutation of the Paired box (Pax)-6 gene, rat Small e... T Fukuda,H Kawano,N Osumi,... - 《Develop...
Alternative splicing of a conserved 83-nucleotide segment in the 3′-portion of the human PAX-2 gene results in a frameshift mutation (14). Four different isoforms of the human PAX-8 and mouse Pax-8 genes are present in kidney tissue, and resulting proteins contain different C termini, ...