P. Escher

Discipline

Psychologie (1) Gestion et management (1)

Type de document

Articles (16)

Co-auteur

Date

Source

Mot-clé

gène (12) Genes (12) Retinal (Visual pigment) (11) Mice (9) protéine (8) Human beings (7) Expression (7) Animals (7) Receptors (7) mutant (6) adulte (6) Retinitis pigmentosa (6) Retinal degeneration (6) Patients (6) Cells (6) Patients (6) adulte (6) mutation (5) maladie (5) Transcription (5) Retina (5) Cone (5) Transcription (5) Mutation (5) maladie (5) roman (5) temps (durée) (4) spectacle (4) Development (4) Methods (4)

Documents écrit par P. Escher (16) | parle de P. Escher (0)

Presence of a Triple Concentric Autofluorescence Ring in NR2E3-p.G56R-Linked Autosomal Dominant Retinitis Pigmentosa (ADRP).
P. Escher et al. (2016)
Modifier Genes as Therapeutics: The Nuclear Hormone Receptor Rev Erb Alpha (Nr1d1) Rescues Nr2e3 Associated Retinal Disease
N.M. Cruz et al. (2014)
IROme, a New High-Throughput Molecular Tool for the Diagnosis of Inherited Retinal Dystrophies.
D.F. Schorderet et al. (2013)
Retinal pigment epithelium protein of 65 kDA gene-linked retinal degeneration is not modulated by chicken acidic leucine-rich epidermal growth factor-like domain containing brain protein/Neuroglycan C/ chondroitin sulfate proteoglycan 5.
S. Cottet et al. (2013)
Double Concentric Autofluorescence Ring in NR2E3-p.G56R-linked Autosomal Dominant Retinitis Pigmentosa.
P. Escher et al. (2012)
Altered expression of the transcription factor Mef2c during retinal degeneration in Rpe65-/- mice.
P. Escher et al. (2011)
Nuclear receptor Rev-erb alpha (Nr1d1) functions in concert with Nr2e3 to regulate transcriptional networks in the retina.
N.J. Mollema et al. (2011)
The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.
M. Michaelides et al. (2010)
Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta.
B. Polok et al. (2009)
Mutations in the DNA-binding domain of NR2E3 affect in vivo dimerization and interaction with CRX.
R. Roduit et al. (2009)
Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family.
P. Escher et al. (2009)
Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice.
Z. Yang et al. (2008)
Differential neuroglycan C expression during retinal degeneration in Rpe65-/- mice.
P. Escher et al. (2008)
Glycogen synthase 2 is a novel target gene of peroxisome proliferator-activated receptors.
S. Mandard et al. (2007)
Impaired skin wound healing in peroxisome proliferator-activated receptor (PPAR)alpha and PPARbeta mutant mice.
L. Michalik et al. (2001)
Peroxisome proliferator-activated receptor beta regulates acyl-CoA synthetase 2 in reaggregated rat brain cell cultures.
S. Basu-Modak et al. (1999)