Zobrazeno 1 - 10
of 272
pro vyhledávání: '"autosomal dominant retinitis pigmentosa"'
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Introduction: Inosine monophosphate dehydrogenase 1 (IMPDH1) is a critical enzyme in the retina, essential for the correct functioning of photoreceptor cells. Mutations in IMPDH1 have been linked to autosomal dominant retinitis pigmentosa subtype 10
Externí odkaz:
https://doaj.org/article/8b8694f6b0af4ff2a33318a56a2ae235
Publikováno v:
BMC Ophthalmology, Vol 21, Iss 1, Pp 1-9 (2021)
Abstract Background Rhodopsin (RHO) is the most well-known genetic cause of autosomal dominant retinitis pigmentosa (adRP). This study aimed to investigate the genetic cause of a large Chinese adRP family and assess the pathogenicity of the detected
Externí odkaz:
https://doaj.org/article/79c5fa3817a042509fb1e5425b436b46
Akademický článek
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Autor:
Cideciyan, Artur V., Sudharsan, Raghavi, Dufour, Valérie L., Massengill, Michael T., Iwabe, Simone, Swider, Malgorzata, Lisi, Brianna, Sumaroka, Alexander, Marinho, Luis Felipe, Appelbaum, Tatyana, Rossmiller, Brian, Hauswirth, William W., Jacobson, Samuel G., Lewin, Alfred S., Aguirre, Gustavo D., Beltran, William A.
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 2018 Sep 01. 115(36), E8547-E8556.
Externí odkaz:
https://www.jstor.org/stable/26531255
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 8 (2021)
Retinitis pigmentosa (RP) is the most common form of inherited retinal dystrophy, and 15–25% of RP is transmitted as an autosomal dominant (ad) trait. The objectives of this study were to establish the variant profile in a large cohort of adRP fami
Externí odkaz:
https://doaj.org/article/75b815c8c93e4c5e9a0cccbcf355b238
Autor:
Saba Shahin, Hui Xu, Bin Lu, Augustus Mercado, Melissa K. Jones, Benjamin Bakondi, Shaomei Wang
Publikováno v:
Pharmaceutics, Vol 14, Iss 4, p 824 (2022)
Retinitis pigmentosa (RP) consists of a group of inherited, retinal degenerative disorders and is characterized by progressive loss of rod photoreceptors and eventual degeneration of cones in advanced stages, resulting in vision loss or blindness. Ge
Externí odkaz:
https://doaj.org/article/ed88c4d672634b4ba7deea43c9117660
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 16, Iss 4, Pp 355-359 (2015)
Background: Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of inherited retinal degenerations that is estimated to affect more than 1.5 million people worldwide. RP is characterized by retinal pigment deposits visible o
Externí odkaz:
https://doaj.org/article/94955246525247dea9c35f7aadbbee37
Autor:
Chris Andrews, Gabrielle D. Lacy, Benjamin Otte, Kanishka Thiran Jayasundera, Kari Branham, David C. Musch
Publikováno v:
Ophthalmic Genet
PURPOSE: To identify structural and functional outcome measures among patients with Rho-positive autosomal dominant Retinitis Pigmentosa (adRP) to aid neuroprotection trial design. METHODS: This was a retrospective cohort study of 52 patients with Rh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bc69552aca961009727d6a4fb5adb7a
https://doi.org/10.1080/13816810.2020.1867752
https://doi.org/10.1080/13816810.2020.1867752
Autor:
Michael T. Massengill, Alfred S. Lewin
Publikováno v:
International Ophthalmology Clinics
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3a3c35bd6f92c9ddfd46d4c643396ec
https://doi.org/10.1097/iio.0000000000000383
https://doi.org/10.1097/iio.0000000000000383
Akademický článek
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