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

[Ca 2+ ] i Inhibition of K + Channels in Canine Pulmonary Artery

Autor: Joseph R. Hume, Craig H. Gelband, J. M. Post

Publikováno v: Circulation Research. 77:131-139

Abstract Experiments were performed on smooth muscle cells isolated from canine pulmonary artery to identify the type of K + channel modulated by hypoxia and examine the possible role of [Ca 2+ ] i in hypoxic K + channel inhibition. Whole-cell patch-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de1a1697b16d4799e66e09475c5346b4
https://doi.org/10.1161/01.res.77.1.131

Terrorist on trial: the context of political crime

Autor: J M, Post

Publikováno v: The journal of the American Academy of Psychiatry and the Law. 28(2)

When political terrorists stand trial for their violent acts, the political context inevitably plays a major role. This article describes the trial of an Abu Nidal terrorist tried in federal court for skyjacking an Egyptian airliner. The defense port

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::8b8d3a3bd74321911fe1d03de2c81c2e
https://pubmed.ncbi.nlm.nih.gov/11196261

Redox Regulation of K+ Channels and Hypoxic Pulmonary Vasoconstriction

Autor: Stephen L. Archer, Joseph R. Hume, E. K. Weir, J. M. Post

Publikováno v: Ion Flux in Pulmonary Vascular Control ISBN: 9781461360162

The pulmonary vasculature is unique in that hypoxia causes vasoconstriction; whereas, most systemic vessels dilate (Daut et al., 1990). Hypoxic pulmonary vasoconstriction (HPV) serves as an adaptive mechanism by which blood flow is diverted from poor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4912a3fd038b5caa0d2941c8cded27ec
https://doi.org/10.1007/978-1-4615-2397-0_15