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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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Recurrent Mutations in a Single Exon Encoding the Evolutionarily Conserved Olfactomedin-Homology Domain of TIGR in Familial Open-Angle Glaucoma

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.
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Apolipoprotein E-promoter single-nucleotide polymorphisms affect the phenotype of primary open-angle glaucoma and demonstrate interaction with the myocilin gene.

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.
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Association of a single nucleotide polymorphism in the TIGR/MYOCILIN gene promoter with the severity of primary open-angle glaucoma.

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.
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Genetic heterogeneity of primary open angle glaucoma and ocular hypertension: linkage to GLC1A associated with an increased risk of severe glaucomatous optic neuropathy.

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.