Zobrazeno 1 - 10
of 44
pro vyhledávání: '"Ismail Moghul"'
Autor:
Nihar Bhattacharyya, Niuzheng Chai, Nathaniel J Hafford-Tear, Amanda N Sadan, Anita Szabo, Christina Zarouchlioti, Jana Jedlickova, Szi Kay Leung, Tianyi Liao, Lubica Dudakova, Pavlina Skalicka, Mohit Parekh, Ismail Moghul, Aaron R Jeffries, Michael E Cheetham, Kirithika Muthusamy, Alison J Hardcastle, Nikolas Pontikos, Petra Liskova, Stephen J Tuft, Alice E Davidson
Publikováno v:
PLoS Genetics, Vol 20, Iss 5, p e1011230 (2024)
Fuchs endothelial corneal dystrophy (FECD) is an age-related cause of vision loss, and the most common repeat expansion-mediated disease in humans characterised to date. Up to 80% of European FECD cases have been attributed to expansion of a non-codi
Externí odkaz:
https://doaj.org/article/2483dcb3baf447028431d996808cd5cd
Autor:
Amy P. Webster, Simone Ecker, Ismail Moghul, Xiaohong Liu, Pawan Dhami, Sarah Marzi, Dirk S. Paul, Michelle Kuxhausen, Stephanie J. Lee, Stephen R. Spellman, Tao Wang, Andrew Feber, Vardhman Rakyan, Karl S. Peggs, Stephan Beck
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Allogeneic hematopoietic cell transplantation (HCT) is used to treat many blood-based disorders and malignancies, however it can also result in serious adverse events, such as the development of acute graft-versus-host disease (aGVHD). This study aim
Externí odkaz:
https://doaj.org/article/951e2cf5b5514896b6ba6afd2a1f92db
Autor:
Yoga Advaith Veturi, MSc, William Woof, PhD, Teddy Lazebnik, PhD, Ismail Moghul, PhD, Peter Woodward-Court, PhD, MBBS, Siegfried K. Wagner, BMBCh, Thales Antonio Cabral de Guimarães, PhD, MD, Malena Daich Varela, PhD, MD, Bart Liefers, PhD, Praveen J. Patel, MBBChir MD(Res), Stephan Beck, PhD, Andrew R. Webster, FRCOphth, Omar Mahroo, PhD, MBBChir, Pearse A. Keane, MD, MB BCH BAO, Michel Michaelides, MD, Konstantinos Balaskas, MD, Nikolas Pontikos, PhD
Publikováno v:
Ophthalmology Science, Vol 3, Iss 2, Pp 100258- (2023)
Purpose: Rare disease diagnosis is challenging in medical image-based artificial intelligence due to a natural class imbalance in datasets, leading to biased prediction models. Inherited retinal diseases (IRDs) are a research domain that particularly
Externí odkaz:
https://doaj.org/article/12ee7796b3234e6eaea51052d9cf4f74
Autor:
Sagnik Sen, Michel Michaelides, Andrew R Webster, Konstantinos Balaskas, Kaoru Fujinami, Manuel Gomes, Nikolas Pontikos, Susan M Downes, Malena Daich Varela, Omar A Mahroo, Thales Antonio Cabral de Guimaraes, Stephen Archer, Gavin Arno, Mital Shah, Savita Madhusudhan, Quang Nguyen, William Woof, Nathaniel Kabiri, Dayyanah Sumodhee, Ismail Moghul, Saoud Al-Khuzaei, Yichen Liu, Catherine Hollyhead, Bhavna Tailor, Loy Lobo, Carl Veal, Jennifer Furman
Publikováno v:
BMJ Open, Vol 13, Iss 3 (2023)
Introduction Inherited retinal diseases (IRD) are a leading cause of visual impairment and blindness in the working age population. Mutations in over 300 genes have been found to be associated with IRDs and identifying the affected gene in patients b
Externí odkaz:
https://doaj.org/article/5945d6aef20f41bfa056c55a51aabb6a
Autor:
Howard Maile, Ji-Peng Olivia Li, Daniel Gore, Marcello Leucci, Padraig Mulholland, Scott Hau, Anita Szabo, Ismail Moghul, Konstantinos Balaskas, Kaoru Fujinami, Pirro Hysi, Alice Davidson, Petra Liskova, Alison Hardcastle, Stephen Tuft, Nikolas Pontikos
Publikováno v:
JMIR Medical Informatics, Vol 9, Iss 12, p e27363 (2021)
BackgroundKeratoconus is a disorder characterized by progressive thinning and distortion of the cornea. If detected at an early stage, corneal collagen cross-linking can prevent disease progression and further visual loss. Although advanced forms are
Externí odkaz:
https://doaj.org/article/635da4950d6f4df7918a389f077023ce
Autor:
José Afonso Guerra-Assunção, Lucia Conde, Ismail Moghul, Amy P. Webster, Simone Ecker, Olga Chervova, Christina Chatzipantsiou, Pablo P. Prieto, Stephan Beck, Javier Herrero
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
In recent years, there has been a significant increase in whole genome sequencing data of individual genomes produced by research projects as well as direct to consumer service providers. While many of these sources provide their users with an interp
Externí odkaz:
https://doaj.org/article/c4727f28bb4044319d9c29e757800e33
Autor:
Luis Alfonso Yañez-Guerra, Xingxing Zhong, Ismail Moghul, Thomas Butts, Cleidiane G Zampronio, Alexandra M Jones, Olivier Mirabeau, Maurice R Elphick
Publikováno v:
eLife, Vol 9 (2020)
Neuropeptide signalling systems comprising peptide ligands and cognate receptors are evolutionarily ancient regulators of physiology and behaviour. However, there are challenges associated with determination of orthology between neuropeptides in diff
Externí odkaz:
https://doaj.org/article/1e907cde2ed74b0f82fabf765a56468f
Autor:
Nikolas Pontikos, Cian Murphy, Ismail Moghul, Gavin Arno, Kaoru Fujinami, Yu Fujinami, Dayyanah Sumodhee, Susan Downes, Andrew Webster, Jing Yu, UK Inherited Retinal Dystrophy Consortium, Phenopolis Consortium
Publikováno v:
PLoS ONE, Vol 15, Iss 4, p e0230587 (2020)
As high-throughput sequencing is increasingly applied to the molecular diagnosis of rare Mendelian disorders, a large number of patients with diverse phenotypes have their genetic and phenotypic data pooled together to uncover new gene-phenotype rela
Externí odkaz:
https://doaj.org/article/1983f04785234a82b57df50babe8728a
Autor:
Vanita Berry, Alex Ionides, Nikolas Pontikos, Ismail Moghul, Anthony T. Moore, Roy A. Quinlan, Michel Michaelides
Publikováno v:
Genes, Vol 11, Iss 5, p 512 (2020)
Pediatric cataract is clinically and genetically heterogeneous and is the most common cause of childhood blindness worldwide. In this study, we aimed to identify disease-causing variants in three large British families and one isolated case with auto
Externí odkaz:
https://doaj.org/article/be21c15c5326473d90543c82f4d229c3
Autor:
Meet Zandawala, Ismail Moghul, Luis Alfonso Yañez Guerra, Jérôme Delroisse, Nikara Abylkassimova, Andrew F. Hugall, Timothy D. O'Hara, Maurice R. Elphick
Publikováno v:
Open Biology, Vol 7, Iss 9 (2017)
Neuropeptides are a diverse class of intercellular signalling molecules that mediate neuronal regulation of many physiological and behavioural processes. Recent advances in genome/transcriptome sequencing are enabling identification of neuropeptide p
Externí odkaz:
https://doaj.org/article/c690bfa268334aa59b27d4c3dbad1e1b