Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Katia Marazova"'
Autor:
Michel Paques, Chloé Pagot, Christina Zeitz, José-Alain Sahel, Deniz Dalkara, Isabelle Audo, Serge Picaud, Saddek Mohand-Said, Line Azoulay, Kate Grieve, Katia Marazova, Thierry Leveillard, Karine Becker, Colas N. Authié, Emmanuel Gutman, Anne-Elisabeth Chaumet-Riffaud
Publikováno v:
American Journal of Ophthalmology
American Journal of Ophthalmology, 2021, 230, pp.12-47. ⟨10.1016/j.ajo.2021.04.013⟩
American Journal of Ophthalmology, 2021, 230, pp.12-47. ⟨10.1016/j.ajo.2021.04.013⟩
International audience; Purpose: To describe the value of integrating phenotype/genotype data, disease staging, and evaluation of functional vision in patient-centered management of retinal dystrophies.Methods: (1) Cross-sectional structure-function
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6290de898526cb087dc31f03de3470f6
https://doi.org/10.1016/j.ajo.2021.04.013
https://doi.org/10.1016/j.ajo.2021.04.013
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, 2019, ⟨10.1073/pnas.1902292116⟩
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2019, ⟨10.1073/pnas.1902292116⟩
Proceedings of the National Academy of Sciences
Proceedings of the National Academy of Sciences of the United States of America, 2019, ⟨10.1073/pnas.1902292116⟩
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2019, ⟨10.1073/pnas.1902292116⟩
Proceedings of the National Academy of Sciences
International audience; As part of human multisensorial interaction with the world, vision is often perceived as the dominant sensory modality. Eyes provide most of our information about the environment and efficient vision is considered to be vital
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c36f1e148ce71ca2f51c6e75725528c
https://hal.science/hal-03127682
https://hal.science/hal-03127682
Autor:
Katia Marazova, José-Alain Sahel
Publikováno v:
Journal of Clinical Investigation. 124:81-84
Aniridia is a panocular disorder that severely affects vision in early life. Most cases are caused by dominantly inherited mutations or deletions of the PAX6 gene, which encodes a transcription factor that is essential for the development of the eye
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a5784de0d3e14e0fc32e270c3587af07
https://doi.org/10.1172/jci73560
https://doi.org/10.1172/jci73560
Autor:
Deniz Dalkara, Saddek Mohand-Said, Serge Picaud, Botond Roska, Jens Duebel, Michel Paques, Thierry Léveillard, José-Alain Sahel, Katia Marazova, Avinoam B. Safran
Publikováno v:
Graefe's Archive for Clinical and Experimental Ophthalmology
Graefe's Archive for Clinical and Experimental Ophthalmology; Vol 251
Graefe's Archive for Clinical and Experimental Ophthalmology; Vol 251
In the highly intricate retinal functional anatomy, connectivity and information processing, the photoreceptor cells play a crucial role. In most simple terms, the photoreceptors rods and cones detect the light and transduce it to the brain as electr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d650204d141df21158191b9039c0c8f
Publikováno v:
Human Gene Therapy
Human Gene Therapy, 2016, 27 (2), pp.134-47
Human Gene Therapy, Mary Ann Liebert, 2016, 27 (2), pp.134-47
Human Gene Therapy, 2016, 27 (2), pp.134-47
Human Gene Therapy, Mary Ann Liebert, 2016, 27 (2), pp.134-47
International audience; Retinal degenerative diseases are a leading cause of irreversible blindness. Retinal cell death is the main cause of vision loss in genetic disorders such as retinitis pigmentosa, Stargardt disease and Leber congenital amauros
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93c049f2c7949c6a012548f3ecd4518e
https://www.hal.inserm.fr/inserm-01258538/document
https://www.hal.inserm.fr/inserm-01258538/document
Autor:
Katia Marazova, José-Alain Sahel
Publikováno v:
Macular Dystrophies ISBN: 9783319266190
Inherited macular dystrophies comprise a highly heterogeneous group of diseases characterized by irreversible loss of central vision as a result of atrophy of the macula and underlying retinal pigment epithelium. Despite significant progress in under
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f317768c4b05f344b7982cb1c7a15198
https://doi.org/10.1007/978-3-319-26621-3_11
https://doi.org/10.1007/978-3-319-26621-3_11
Publikováno v:
Current Opinion in Ophthalmology
Current Opinion in Ophthalmology, 2015, 26 (3), pp.226-32. ⟨10.1097/ICU.0000000000000140⟩
Current Opinion in Ophthalmology, Lippincott, Williams & Wilkins, 2015, 26 (3), pp.226-32. ⟨10.1097/ICU.0000000000000140⟩
Current Opinion in Ophthalmology, 2015, 26 (3), pp.226-32. ⟨10.1097/ICU.0000000000000140⟩
Current Opinion in Ophthalmology, Lippincott, Williams & Wilkins, 2015, 26 (3), pp.226-32. ⟨10.1097/ICU.0000000000000140⟩
International audience; In this review, we will discuss the recent developments in optogenetics and their potential applications in ophthalmology to restore vision in retinal degenerative diseases. In recent years, we have seen major advances in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43863ffe79ceffdd91d14a661cce2ea5
https://pubmed.ncbi.nlm.nih.gov/25759964
https://pubmed.ncbi.nlm.nih.gov/25759964
Inherited retinal degenerations (IRDs) encompass a large group of clinically and genetically heterogeneous diseases that affect approximately 1 in 3000 people (>2 million people worldwide) (Bessant DA, Ali RR, Bhattacharya SS. 2001. Molecular genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::150dc5d4cc60575752e4dc6f878a0c90
https://europepmc.org/articles/PMC4315917/
https://europepmc.org/articles/PMC4315917/
Publikováno v:
Life Sciences. 70:1359-1367
In this work, we showed that human colon cancer cell lines produce trypsin which can activate a receptor for trypsin, the protease-activated receptor-2 (PAR-2), in these cells. RT-PCR experiments showed that trypsinogen transcripts were present in fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b6d0f3424445b0b83038da27b414a675
https://doi.org/10.1016/s0024-3205(01)01519-3
https://doi.org/10.1016/s0024-3205(01)01519-3
Autor:
Katia Marazova, José-Alain Sahel
Publikováno v:
Inherited Chorioretinal Dystrophies ISBN: 9783540694649
Currently, there is no known effective treatment that can reverse the vision loss in retinitis pigmentosa (RP). To maintain and/or improve quality of life, patients would benefit from some supportive and preventive measures, such as vision aids, well
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b1d3d6dfe9f27748d9232c9b29b16d2f
https://doi.org/10.1007/978-3-540-69466-3_53
https://doi.org/10.1007/978-3-540-69466-3_53