Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Thomas, Pugliese"'
Autor:
Marco Nassisi, Giuseppe De Bartolo, Saddek Mohand-Said, Christel Condroyer, Aline Antonio, Marie-Elise Lancelot, Kinga Bujakowska, Vasily Smirnov, Thomas Pugliese, John Neidhardt, José-Alain Sahel, Christina Zeitz, Isabelle Audo
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 13, p 7189 (2022)
Variants in the X-linked retinitis pigmentosa GTPase regulator gene (RPGR) and, specifically, in its retinal opening reading frame-15 isoform (RPGRORF15) may cause rod-cone (RCD), cone, and cone-rod dystrophies (CDs and CRDs). While RPGR-related RCDs
Externí odkaz:
https://doaj.org/article/9f1d2d283d724dab995e3193d9177948
Autor:
Elise Orhan, Marion Neuillé, Miguel de Sousa Dias, Thomas Pugliese, Christelle Michiels, Christel Condroyer, Aline Antonio, José-Alain Sahel, Isabelle Audo, Christina Zeitz
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 9, p 4424 (2021)
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://doaj.org/article/879f111cea444e7591367be9f55c0c13
Autor:
Juliette, Varin, Nassima, Bouzidi, Miguel Miranda De Sousa, Dias, Thomas, Pugliese, Christelle, Michiels, Camille, Robert, Melissa, Desrosiers, José-Alain, Sahel, Isabelle, Audo, Deniz, Dalkara, Christina, Zeitz
Publikováno v:
Investigative Ophthalmology & Visual Science
Purpose Complete congenital stationary night blindness (cCSNB) is an incurable inherited retinal disorder characterized by an ON-bipolar cell (ON-BC) defect. GRM6 mutations are the third most prevalent cause of cCSNB. The Grm6−/− mouse model mimi