Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients

Autor: Laura Whelan, Adrian Dockery, Kirk A. J. Stephenson, Julia Zhu, Ella Kopčić, Iris J. M. Post, Mubeen Khan, Zelia Corradi, Niamh Wynne, James J. O’ Byrne, Emma Duignan, Giuliana Silvestri, Susanne Roosing, Frans P. M. Cremers, David J. Keegan, Paul F. Kenna, G. Jane Farrar

Publikováno v: Scientific Reports, Vol 13, Iss 1, Pp 1-16 (2023)

Abstract Over 15% of probands in a large cohort of more than 1500 inherited retinal degeneration patients present with a clinical diagnosis of Stargardt disease (STGD1), a recessive form of macular dystrophy caused by biallelic variants in the ABCA4

Externí odkaz: https://doaj.org/article/c46ab88922e84dc084946bcf34d83944

In or Out? New Insights on Exon Recognition through Splice-Site Interdependency

Autor: Jan Amsu, Stéphanie S. Cornelis, Riccardo Sangermano, Frans P.M. Cremers, Iris J M Post, Amber Janssen Groesbeek, Rob W.J. Collin, Alejandro Garanto, Mubeen Khan, Christian Gilissen

Publikováno v: International Journal of Molecular Sciences
Volume 21
Issue 7
International Journal of Molecular Sciences, Vol 21, Iss 7, p 2300 (2020)
International Journal of Molecular Sciences, 21
International Journal of Molecular Sciences, 21, 7

Noncanonical splice-site mutations are an important cause of inherited diseases. Based on in vitro and stem-cell-based studies, some splice-site variants show a stronger splice defect than expected based on their predicted effects, suggesting that ot

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6828ea4c77db25fa71c09c6ed172d3b
https://hdl.handle.net/2066/219583