A New Mouse Model for Complete Congenital Stationary Night Blindness Due to Gpr179 Deficiency

Autor: Orhan, Elise, Neuillé, Marion, Dias, Miguel de Sousa, Pugliese, Thomas, Michiels, Christelle, Condroyer, Christel, Antonio, Aline, Sahel, José-Alain, Audo, Isabelle, Zeitz, Christina

Publikováno v: International Journal of Molecular Sciences
International Journal of Molecular Sciences, MDPI, 2021, 22 (9), pp.4424. ⟨10.3390/ijms22094424⟩
International Journal of Molecular Sciences, 2021, 22 (9), pp.4424. ⟨10.3390/ijms22094424⟩
International Journal of Molecular Sciences, Vol 22, Iss 4424, p 4424 (2021)
Volume 22
Issue 9

Mutations in GPR179 lead to autosomal recessive complete congenital stationary night blindness (cCSNB). This condition represents a signal transmission defect from the photoreceptors to the ON-bipolar cells. To confirm the phenotype, better understan

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::6fbddce49e44b0bc6ecc2423c98ed6d7
http://europepmc.org/articles/PMC8122890

Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.

Autor: Millá E; Unidad de Glaucoma y Genética, Institut Comtal d'Oftalmologia, Barcelona, Spain., Mañé B, Duch S, Hernan I, Borràs E, Planas E, Dias Mde S, Carballo M, Gamundi MJ

Publikováno v: Molecular vision [Mol Vis] 2013 Aug 04; Vol. 19, pp. 1707-22. Date of Electronic Publication: 2013 Aug 04 (Print Publication: 2013).