Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate

Hereditary human retinal degenerative diseases usually affect the mature photoreceptor topography by reducing the number of cells through apoptosis, resulting in loss of visual function 1 . Only one inherited retinal disease, the enhanced S-cone syndrome (ESCS), manifests a gain in function of photo...

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Veröffentlicht in:	Nature genetics 2000-02, Vol.24 (2), p.127-131
Hauptverfasser:	Haider, Neena B., Jacobson, Samuel G., Cideciyan, Artur V., Swiderski, Ruth, Streb, Luan M., Searby, Charles, Beck, Gretel, Hockey, Robin, Hanna, David B., Gorman, Susan, Duhl, David, Carmi, Rivka, Bennett, Jean, Weleber, Richard G., Fishman, Gerald A., Wright, Alan F., Stone, Edwin M., Sheffield, Val C.
Format:	Artikel
Sprache:	eng
Schlagworte:	Agriculture Amino Acid Sequence Amino Acid Substitution Animal Genetics and Genomics Animals Biological and medical sciences Biomedical and Life Sciences Biomedicine Cancer Research Chickens Diagnosis Drosophila - genetics enhanced S-cone syndrome Female Gene Function Genetic aspects Human Genetics Humans Introns letter Male Medical sciences Mice Molecular Sequence Data Mutation night blindness NR2E3 gene Ophthalmology Ophthalmoscope and ophthalmoscopy Orphan Nuclear Receptors Pedigree Photoreception Photoreceptors PNR gene Polymorphism, Single-Stranded Conformational Receptors, Cytoplasmic and Nuclear - genetics Retina Retina - metabolism Retina - pathology Retina - physiopathology Retinal Cone Photoreceptor Cells - pathology Retinal Cone Photoreceptor Cells - physiopathology Retinal degeneration Retinal Degeneration - genetics Retinal Degeneration - pathology Retinal Degeneration - physiopathology Retinopathies Sequence Alignment Sequence Deletion Sequence Homology, Amino Acid Syndrome Topography Transcription Factors - genetics Xenopus laevis
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