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Titolo:
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate
Autore:
Haider, NB; Jacobson, SG; Cideciyan, AV; Swiderski, R; Streb, LM; Searby, C; Beck, G; Hockey, R; Hanna, DB; Gorman, S; Duhl, D; Carmi, R; Bennett, J; Weleber, RG; Fishman, GA; Wright, AF; Stone, EM; Sheffield, VC;
Indirizzi:
Univ Iowa, Howard Hughes Med Inst, Dept Pediat, Iowa City, IA 52242 USA Univ Iowa Iowa City IA USA 52242 st, Dept Pediat, Iowa City, IA 52242 USA Univ Iowa, Howard Hughes Med Inst, Dept Ophthalmol, Iowa City, IA 52242 USA Univ Iowa Iowa City IA USA 52242 Dept Ophthalmol, Iowa City, IA 52242 USA Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA Univ Penn Philadelphia PA USA 19104 phthalmol, Philadelphia, PA 19104 USA Chiron Corp, Emeryville, CA 94608 USA Chiron Corp Emeryville CA USA 94608Chiron Corp, Emeryville, CA 94608 USA Ben Gurion Univ Negev, Inst Genet, Soroka Med Ctr, IL-84105 Beer Sheva, Israel Ben Gurion Univ Negev Beer Sheva Israel IL-84105 4105 Beer Sheva, Israel Oregon Hlth Sci Univ, Casey Eye Inst, Portland, OR 97201 USA Oregon Hlth Sci Univ Portland OR USA 97201 e Inst, Portland, OR 97201 USA Univ Illinois, Coll Med, Dept Ophthalmol, Chicago, IL USA Univ Illinois Chicago IL USA Coll Med, Dept Ophthalmol, Chicago, IL USA Western Gen Hosp, MRC Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland Western Gen Hosp Edinburgh Midlothian Scotland EH4 2XU dlothian, Scotland
Titolo Testata:
NATURE GENETICS
fascicolo: 2, volume: 24, anno: 2000,
pagine: 127 - 131
SICI:
1061-4036(200002)24:2<127:MOANRG>2.0.ZU;2-5
Fonte:
ISI
Lingua:
ENG
Soggetto:
SENSITIVITY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
30
Recensione:
Indirizzi per estratti:
Indirizzo: Sheffield, VC Univ Iowa, Howard Hughes Med Inst, Dept Pediat, Iowa City, IA 52242 USA Univ Iowa Iowa City IA USA 52242 t, Iowa City, IA 52242 USA
Citazione:
N.B. Haider et al., "Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate", NAT GENET, 24(2), 2000, pp. 127-131

Abstract

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 photoreceptors. ESCS is an autosomal recessive retinopathy in which patients have an increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, theS (short wavelength, blue) cones(2-8). People with ESCS also suffer visualloss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration. The altered ratio of S- to L/M-cone photoreceptor sensitivity in ESCS may be due to abnormal cone cell fate determination during retinal development(7). In 94% of a cohort of ESCS probands we found mutations in NR2E3 (alsoknown as PNR), which encodes a retinal nuclear receptor recently discovered to be a ligand-dependent transcription factor(9). Expression of NR2E3 waslimited to the outer nuclear layer of the human retina. Our results suggest that NR2E3 has a role in determining photoreceptor phenotype during humanretinogenesis.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/01/21 alle ore 04:21:42