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Alain Béchetoille
Researcher at Necker-Enfants Malades Hospital
Publications - 8
Citations - 548
Alain Béchetoille is an academic researcher from Necker-Enfants Malades Hospital. The author has contributed to research in topics: Myocilin & Ocular hypertension. The author has an hindex of 5, co-authored 8 publications receiving 538 citations.
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Journal ArticleDOI
Recurrent Mutations in a Single Exon Encoding the Evolutionarily Conserved Olfactomedin-Homology Domain of TIGR in Familial Open-Angle Glaucoma
Marie F. Adam,Ahmed Belmouden,Philippe Binisti,Antoine P. Brézin,Françoise Valtot,Alain Béchetoille,Jean-Claude Dascotte,Bruno Copin,Lucienne Gomez,A. Chaventre,Jean-François Bach,Henri-Jean Garchon +11 more
TL;DR: Surprisingly, the TIGR message, which is abundantly transcribed in the trabecular meshwork and also in the ciliary body and the sclera, is not expressed in the optic nerve whose degeneration is, however, the primary lesion of POAG.
Journal ArticleDOI
Apolipoprotein E-promoter single-nucleotide polymorphisms affect the phenotype of primary open-angle glaucoma and demonstrate interaction with the myocilin gene.
Bruno Copin,Antoine P. Brézin,Françoise Valtot,Jean-Claude Dascotte,Alain Béchetoille,Henri-Jean Garchon +5 more
TL;DR: It is reported that two APOE-promoter single-nucleotide polymorphisms (SNPs) previously associated with AD also modify the POAG phenotype, establish APOE as a potent modifier for POAG, and shed new light on potential mechanisms of optic nerve damage and of IOP regulation in POAG.
Journal ArticleDOI
Association of a single nucleotide polymorphism in the TIGR/MYOCILIN gene promoter with the severity of primary open-angle glaucoma.
E. Colomb,T D Nguyen,Alain Béchetoille,J.-C. Dascotte,Françoise Valtot,A. P. Brezin,M Berkani,Bruno Copin,Lucienne Gomez,J R Polansky,Henri-Jean Garchon +10 more
TL;DR: The influence on glaucoma phenotype of a novel biallelic polymorphism located in the upstream region of the MYOC gene appears to be an indicator of poor IOP control and greater visual field damage in diagnosed POAG patients, potentially due to a lack of response to therapeutic intervention.
Journal ArticleDOI
Age-dependent penetrance and mapping of the locus for juvenile and early-onset open-angle glaucoma on chromosome 1q (GLC1A) in a French family
Anne Meyer,Alain Béchetoille,Françoise Valtot,Stéphane Dupont de Dinechin,Marie F. Adam,Ahmed Belmouden,Antoine P. Brézin,Lucienne Gomez,Jean-François Bach,Henri-Jean Garchon +9 more
TL;DR: A second POAG family with variable age of onset is described, strengthening the idea that early-onset POAG may also be determined by the GLC1A genetic region.
Journal ArticleDOI
Genetic heterogeneity of primary open angle glaucoma and ocular hypertension: linkage to GLC1A associated with an increased risk of severe glaucomatous optic neuropathy.
Antoine P. Brézin,Alain Béchetoille,P Hamard,Françoise Valtot,M Berkani,Ahmed Belmouden,Marie F. Adam,S. Dupont De Dinechin,Jean-François Bach,Henri-Jean Garchon +9 more
TL;DR: Testing linkage of familial OAG to GLC1A may have prognostic value too, as there was strong evidence of genetic heterogeneity in eight French families with multiple cases of juvenile and middle age onset OAG.