Zobrazeno 1 - 10
of 154
pro vyhledávání: '"Martin Mckibbin"'
Autor:
Robert Atkinson, Maria Georgiou, Chunbo Yang, Katarzyna Szymanska, Albert Lahat, Elton J. R. Vasconcelos, Yanlong Ji, Marina Moya Molina, Joseph Collin, Rachel Queen, Birthe Dorgau, Avril Watson, Marzena Kurzawa-Akanbi, Ross Laws, Abhijit Saxena, Chia Shyan Beh, Chileleko Siachisumo, Franziska Goertler, Magdalena Karwatka, Tracey Davey, Chris F. Inglehearn, Martin McKibbin, Reinhard Lührmann, David H. Steel, David J. Elliott, Lyle Armstrong, Henning Urlaub, Robin R. Ali, Sushma-Nagaraja Grellscheid, Colin A. Johnson, Sina Mozaffari-Jovin, Majlinda Lako
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-17 (2024)
Abstract The carboxy-terminus of the spliceosomal protein PRPF8, which regulates the RNA helicase Brr2, is a hotspot for mutations causing retinitis pigmentosa-type 13, with unclear role in human splicing and tissue-specificity mechanism. We used pat
Externí odkaz:
https://doaj.org/article/543dcbabd0154436a3a7c83f1dd4c6bd
Autor:
Martin McKibbin, Tariq Aslam, Sarah Barman, Jenny Barrett, Paul Bishop, Roxana Carare, Usha Chakravarthy, Michelle Chan, Alexander Day, Parul Desai, Bal Dhillon, Andrew Dick, Cathy Egan, Sarah Ennis, Paul Foster, Marcus Fruttiger, John Gallacher, Jane Gibson, Jeremy Guggenheim, Chris Hammond, Alison Hardcastle, Simon Harding, Ruth Hogg, Pirro Hysi, Anthony Khawaja, Gerassimos Lascaratos, Andrew Lotery, Phil Luthert, Tom Macgillivray, Sarah Mackie, Bernadette Mcguinness, Gareth Mckay, Tony Moore, James Morgan, Eoin O’sullivan, Chris Owen, Praveen Patel, Euan Paterson, Axel Petzold, Alicja Rudnicka, Paul J Foster, Naomi Allen, Peng Tee Khaw, Praveen J Patel, Konstantinos Balaskas, Richard Oram, Robert Luben, Tasanee Braithwaite, Graeme Black, Christopher G Owen, Zihan Sun, David Garway-Heath, Thomas Littlejohns, Simon Sheard, Sharon Chua, Pearse Keane, Denize Atan, Savita Madhusudhan, Alexander Doney
Publikováno v:
BMJ Open, Vol 13, Iss 6 (2023)
Purpose The retina provides biomarkers of neuronal and vascular health that offer promising insights into cognitive ageing, mild cognitive impairment and dementia. This article described the rationale and methodology of eye and vision assessments wit
Externí odkaz:
https://doaj.org/article/7aa3818d8e5e4fc3b026f8c7a9faa59c
Autor:
Benjamin McClinton, Laura A. Crinnion, Martin McKibbin, Rajarshi Mukherjee, James A. Poulter, Claire E. L. Smith, Manir Ali, Christopher M. Watson, Chris F. Inglehearn, Carmel Toomes
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 6, Pp n/a-n/a (2023)
Abstract Background The widespread adoption of exome sequencing has greatly increased the rate of genetic diagnosis for inherited conditions. However, the detection and validation of large deletions remains challenging. While numerous bioinformatics
Externí odkaz:
https://doaj.org/article/30974ac5421d42c3bd08091e0d58f9b9
Autor:
Daan M. Panneman, Rebekkah J. Hitti-Malin, Lara K. Holtes, Suzanne E. de Bruijn, Janine Reurink, Erica G. M. Boonen, Muhammad Imran Khan, Manir Ali, Sten Andréasson, Elfride De Baere, Sandro Banfi, Miriam Bauwens, Tamar Ben-Yosef, Béatrice Bocquet, Marieke De Bruyne, Berta de la Cerda, Frauke Coppieters, Pietro Farinelli, Thomas Guignard, Chris F. Inglehearn, Marianthi Karali, Ulrika Kjellström, Robert Koenekoop, Bart de Koning, Bart P. Leroy, Martin McKibbin, Isabelle Meunier, Konstantinos Nikopoulos, Koji M. Nishiguchi, James A. Poulter, Carlo Rivolta, Enrique Rodríguez de la Rúa, Patrick Saunders, Francesca Simonelli, Yasmin Tatour, Francesco Testa, Alberta A. H. J. Thiadens, Carmel Toomes, Anna M. Tracewska, Hoai Viet Tran, Hiroaki Ushida, Veronika Vaclavik, Virginie J. M. Verhoeven, Maartje van de Vorst, Christian Gilissen, Alexander Hoischen, Frans P. M. Cremers, Susanne Roosing
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Introduction: Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by the cone photoreceptors of the retina. A genetic diagnosis for IRDs i
Externí odkaz:
https://doaj.org/article/70773f087bee4d9ea754539e4fee1ac1
Autor:
Martin McKibbin, Andrew Lotery, C Brand, C Bailey, C Santiago, L Downey, I Pearce, B Mushtaq, H Devonport, I Dias, RM West, SD Relton, GC Chi, P Scanlon, H Saedon, SJ Talks
Publikováno v:
BMJ Open Ophthalmology, Vol 7, Iss 1 (2022)
Externí odkaz:
https://doaj.org/article/538f71c5e6b144b5aa668558518c071d
Autor:
Martin McKibbin, Tariq Aslam, Sarah Barman, Jenny Barrett, Paul Bishop, Peter Blows, Catey Bunce, Roxana Carare, Usha Chakravarthy, Michelle Chan, David Crabb, Philippa Cumberland, Alexander Day, Parul Desai, Bal Dhillon, Andrew Dick, Cathy Egan, Sarah Ennis, Marcus Fruttiger, John Gallacher, Jane Gibson, Dan Gore, Jeremy Guggenheim, Chris Hammond, Alison Hardcastle, Simon Harding, Ruth Hogg, Pirro Hysi, Anthony Khawaja, Gerassimos Lascaratos, Andrew Lotery, Phil Luthert, Tom Macgillivray, Sarah Mackie, Keith Martin, Michelle Mcgaughey, Bernadette Mcguinness, Danny Mitry, Tony Moore, James Morgan, Zaynah Muthy, Chris Owen, Praveen Patel, Euan Paterson, Tunde Peto, Axel Petzold, Jugnoo Rahi, Alicja Rudnicka, Jay Self, Sobha Sivaprasad, David Steel, Irene Stratton, Nicholas Strouthidis, Cathie Sudlow, Caroline Thaung, Dhanes Thomas, Emanuele Trucco, Adnan Tufail, Veronique Vitart, Stephen Vernon, Ananth Viswanathan, Jayne Woodside, Max Yates, Yalin Zheng, Cathy Williams, Paul J Foster, Katie Williams, David Garway-Heath, Eoin O'Sullivan, Jennifer Lai Yee Yip, Sharon Chua, Pearse Keane, Sir Khaw
Publikováno v:
BMJ Open Ophthalmology, Vol 6, Iss 1 (2021)
Objective There is contrasting evidence on the relationship between socioeconomic status (SES) and age-related macular degeneration (AMD), the most common cause of visual impairment (VI) in developed countries. This study examines the relationship be
Externí odkaz:
https://doaj.org/article/2446a6ee5a0a4c9584159ccf2510c64e
Autor:
Martin McKibbin, Catey Bunce, Adnan Tufail, Heather Waterman, Pearse A Keane, Aled Jones, Luke Vale, Praveen J Patel, Konstantinos Balaskas, Abdel Douiri, John Lawrenson, Claire Bailey, Faruque Ghanchi, Richard P Gale, Robin Hamilton, Robert Harper, Simon Read, Emily Robinson, Sajjad Mahmood, Dawn Sim, Janet Peacock, Annastazia E Learoyd, Ashleigh Kernohan, Alijazy Jaber, Saqlain Sadiq, Serena Salvatore
Publikováno v:
BMJ Open, Vol 11, Iss 5 (2021)
Objective Management of age-related macular degeneration (AMD) places a high demand on already constrained hospital-based eye services. This study aims to assess the safety and quality of follow-up within the community led by suitably trained non-med
Externí odkaz:
https://doaj.org/article/1b0fbe98862b46ce9440625d747fae1e
Autor:
Adriana Buskin, Lili Zhu, Valeria Chichagova, Basudha Basu, Sina Mozaffari-Jovin, David Dolan, Alastair Droop, Joseph Collin, Revital Bronstein, Sudeep Mehrotra, Michael Farkas, Gerrit Hilgen, Kathryn White, Kuan-Ting Pan, Achim Treumann, Dean Hallam, Katarzyna Bialas, Git Chung, Carla Mellough, Yuchun Ding, Natalio Krasnogor, Stefan Przyborski, Simon Zwolinski, Jumana Al-Aama, Sameer Alharthi, Yaobo Xu, Gabrielle Wheway, Katarzyna Szymanska, Martin McKibbin, Chris F. Inglehearn, David J. Elliott, Susan Lindsay, Robin R. Ali, David H. Steel, Lyle Armstrong, Evelyne Sernagor, Henning Urlaub, Eric Pierce, Reinhard Lührmann, Sushma-Nagaraja Grellscheid, Colin A. Johnson, Majlinda Lako
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-19 (2018)
Mutations in pre-mRNA processing factors cause autosomal dominant retinitis pigmentosa. Here the authors provide insights into the pathophysiological mechanisms underlying non-syndromic retinal disease caused by heterozygous mutations in genes encodi
Externí odkaz:
https://doaj.org/article/39722a7de98941cab07e48fc0b8400de
Autor:
Farhat Butt, Martin McKibbin
Publikováno v:
BMC Ophthalmology, Vol 18, Iss S1, Pp 1-3 (2018)
Abstract Background Bone marrow transplantation retinopathy is a rare condition affecting the posterior pole. The purpose of this case report is to highlight the possible risk factors and clinical features. Case presentation A 19y old male with relap
Externí odkaz:
https://doaj.org/article/cba9f2e8aaed4d30a92d7c256295925a
Autor:
Christopher M Watson, Mohammed El-Asrag, David A Parry, Joanne E Morgan, Clare V Logan, Ian M Carr, Eamonn Sheridan, Ruth Charlton, Colin A Johnson, Graham Taylor, Carmel Toomes, Martin McKibbin, Chris F Inglehearn, Manir Ali
Publikováno v:
PLoS ONE, Vol 9, Iss 8, p e104281 (2014)
Retinal dystrophies are genetically heterogeneous, resulting from mutations in over 200 genes. Prior to the development of massively parallel sequencing, comprehensive genetic screening was unobtainable for most patients. Identifying the causative ge
Externí odkaz:
https://doaj.org/article/90cf5e0403ae4c868eed24f25f38499b