Recurrent Mutation in the First Zinc Finger of the Orphan Nuclear Receptor NR2E3 Causes Autosomal Dominant Retinitis Pigmentosa

This publication has 36 references indexed in Scilit:

• Molecular prenatal diagnosis of partial androgen insensitivity syndrome based on the Hind III polymorphism of the androgen receptor gene*
  Clinical Endocrinology, 2010
• Transformation of cone precursors to functional rod photoreceptors by bZIP transcription factor NRL
  Proceedings of the National Academy of Sciences, 2007
• A cell cycle-dependent co-repressor mediates photoreceptor cell-specific nuclear receptor function
  The EMBO Journal, 2007
• In vivo function of the orphan nuclear receptor NR2E3 in establishing photoreceptor identity during mammalian retinal development
  Human Molecular Genetics, 2006
• Prevalence of Disease-Causing Mutations in Families with Autosomal Dominant Retinitis Pigmentosa: A Screen of Known Genes in 200 Families
  Investigative Opthalmology & Visual Science, 2006
• Variation in retinitis pigmentosa-11 (PRPF31orRP11) gene expression between symptomatic and asymptomatic patients with dominantRP11mutations
  Human Mutation, 2006
• easyLINKAGE: a PERL script for easy and automated two-/multi-point linkage analyses
  Bioinformatics, 2004
• A Single Amino Acid Change in the First Zinc Finger of the DNA Binding Domain of the Glucocorticoid Receptor Regulates Differential Promoter Selectivity
  Journal of Biological Chemistry, 2004
• Pitfalls in Homozygosity Mapping
  American Journal of Human Genetics, 2000
• Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate
  Nature Genetics, 2000