Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Maggie L. Mwoyosvi"'
Publikováno v:
Communications Biology, Vol 6, Iss 1, Pp 1-13 (2023)
Abstract Usher syndrome (USH) is the leading cause of combined deafness and blindness, with USH2A being the most prevalent form. The mechanisms responsible for this debilitating sensory impairment remain unclear. This study focuses on characterizing
Externí odkaz:
https://doaj.org/article/c81b05ace6894effa01330ea25d2f812
Autor:
Lars Tebbe, Maggie L. Mwoyosvi, Ryan Crane, Mustafa S. Makia, Mashal Kakakhel, Dominic Cosgrove, Muayyad R. Al-Ubaidi, Muna I. Naash
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-20 (2023)
The c.2299delG mutation in usherin causes loss of hearing and vision. Here, the authors show in a mouse model of this disease that the expression of mutant usherin leads to retinitis pigmentosa and structural defects in the photoreceptor cilium assoc
Externí odkaz:
https://doaj.org/article/db88d416d60a491d9242769716be2928
Autor:
Rahel Zulliger, Shannon M Conley, Maggie L Mwoyosvi, Michael W Stuck, Seifollah Azadi, Muna I Naash
Publikováno v:
PLoS ONE, Vol 10, Iss 9, p e0138508 (2015)
Mutations in the photoreceptor protein peripherin-2 (also known as RDS) cause severe retinal degeneration. RDS and its homolog ROM-1 (rod outer segment protein 1) are synthesized in the inner segment and then trafficked into the outer segment where t
Externí odkaz:
https://doaj.org/article/d5f849882d344576845f350634cf44f8
Autor:
Shannon M, Conley, Cynthia K, McClard, Maggie L, Mwoyosvi, Niyaf, Alkadhem, Bojana, Radojevic, Martin, Klein, David, Birch, Ashley, Ellis, Sonny W, Icks, Tejesh, Guddanti, Lea D, Bennett
Publikováno v:
Investigative Opthalmology & Visual Science. 63:19
More than 200 different mutations in peripherin-2 (PRPH2) are associated with multiple subtypes of inherited retinal diseases (IRDs), including retinitis pigmentosa and cone or macular diseases. Our goal was to understand how the poorly characterized
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::021ea094dd1cbded73031ccfb7cd926a
https://doi.org/10.1167/iovs.63.8.19
https://doi.org/10.1167/iovs.63.8.19
Mutations in peripherin 2 (PRPH2, also known as Rds), a tetraspanin protein found in photoreceptor outer segments (OSs), cause retinal degeneration ranging from rod-dominant retinitis pigmentosa (RP) to cone-dominant macular dystrophy (MD). Understan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d12b83ff0070ba6eff666fc80d6cd729
https://europepmc.org/articles/PMC6168975/
https://europepmc.org/articles/PMC6168975/
Autor:
Shannon M. Conley, Rahel Zulliger, Muna I. Naash, Michael W. Stuck, Seifollah Azadi, Maggie L. Mwoyosvi
Publikováno v:
PLoS ONE, Vol 10, Iss 9, p e0138508 (2015)
PLoS ONE
PLoS ONE
Mutations in the photoreceptor protein peripherin-2 (also known as RDS) cause severe retinal degeneration. RDS and its homolog ROM-1 (rod outer segment protein 1) are synthesized in the inner segment and then trafficked into the outer segment where t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bb275e73641d2dd2701f2e1c276b0ec
https://doi.org/10.1371/journal.pone.0138508
https://doi.org/10.1371/journal.pone.0138508