Zobrazeno 1 - 10
of 312
pro vyhledávání: '"T. O'Keefe"'
Autor:
Megan A. Eadsforth, Linghan Kong, George Whitehead, Iñigo J. Vitórica-Yrezábal, Raymond T. O'Keefe, Richard A. Bryce, Roger C. Whitehead
Publikováno v:
Acta Crystallographica Section E: Crystallographic Communications, Vol 80, Iss 8, Pp 857-862 (2024)
The X-ray crystal structure data of 12-α-fluoro-3β-hydroxyolean-28,13β-olide methanol hemisolvate, 2C30H47FO3·CH3OH, (1), and 12-α-fluoro-3β-hydroxytaraxer-28,14β-olide methanol hemisolvate, 2C30H47FO3·CH3OH, (2), are described. The fluorolac
Externí odkaz:
https://doaj.org/article/d55563e07688471a886ae4307909b127
Autor:
Alfredo Dueñas Rey, Marta del Pozo Valero, Manon Bouckaert, Katherine A Wood, Filip Van den Broeck, Malena Daich Varela, Huw B Thomas, Mattias Van Heetvelde, Marieke De Bruyne, Stijn Van de Sompele, Miriam Bauwens, Hanne Lenaerts, Quinten Mahieu, Dragana Josifova, Genomics England Research Consortium, Carlo Rivolta, Raymond T O’Keefe, Jamie Ellingford, Andrew R Webster, Gavin Arno, Carmen Ayuso, Julie De Zaeytijd, Bart P Leroy, Elfride De Baere, Frauke Coppieters
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-21 (2024)
Abstract Background 5’ untranslated regions (5’UTRs) are essential modulators of protein translation. Predicting the impact of 5’UTR variants is challenging and rarely performed in routine diagnostics. Here, we present a combined approach of a
Externí odkaz:
https://doaj.org/article/3ef1b0b6663c4cf89d5498ab57ec00ff
Autor:
Charlie Rowlands, Huw B. Thomas, Jenny Lord, Htoo A. Wai, Gavin Arno, Glenda Beaman, Panagiotis Sergouniotis, Beatriz Gomes-Silva, Christopher Campbell, Nicole Gossan, Claire Hardcastle, Kevin Webb, Christopher O’Callaghan, Robert A. Hirst, Simon Ramsden, Elizabeth Jones, Jill Clayton-Smith, Andrew R. Webster, Genomics England Research Consortium, Andrew G. L. Douglas, Raymond T. O’Keefe, William G. Newman, Diana Baralle, Graeme C. M. Black, Jamie M. Ellingford
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
Abstract The development of computational methods to assess pathogenicity of pre-messenger RNA splicing variants is critical for diagnosis of human disease. We assessed the capability of eight algorithms, and a consensus approach, to prioritize 249 v
Externí odkaz:
https://doaj.org/article/cff014b62747418fa2af4029a4e249c3
Autor:
Katherine A. Wood, Jamie M. Ellingford, James Eden, Huw B. Thomas, Raymond T. O’Keefe, Claire Hopton, William G. Newman
Publikováno v:
Cardiogenetics, Vol 11, Iss 2, Pp 73-83 (2021)
Genetic variants in MYBPC3 are one of the most common causes of hypertrophic cardiomyopathy (HCM). While variants in MYBPC3 affecting canonical splice site dinucleotides are a well-characterised cause of HCM, only recently has work begun to investiga
Externí odkaz:
https://doaj.org/article/5c46b773a2b144039d74397e5dc7663c
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Pre-mRNA splicing is performed by the spliceosome, a dynamic macromolecular complex consisting of five small uridine-rich ribonucleoprotein complexes (the U1, U2, U4, U5, and U6 snRNPs) and numerous auxiliary splicing factors. A plethora of human dis
Externí odkaz:
https://doaj.org/article/8b8a6ed4612b4b04b531bdbc39e33865
Autor:
Laura Natalia Balarezo-Cisneros, Steven Parker, Marcin G Fraczek, Soukaina Timouma, Ping Wang, Raymond T O'Keefe, Catherine B Millar, Daniela Delneri
Publikováno v:
PLoS Genetics, Vol 17, Iss 1, p e1008761 (2021)
Non-coding RNAs (ncRNAs), including the more recently identified Stable Unannotated Transcripts (SUTs) and Cryptic Unstable Transcripts (CUTs), are increasingly being shown to play pivotal roles in the transcriptional and post-transcriptional regulat
Externí odkaz:
https://doaj.org/article/a6ecc1e1394044baa4fc40262df73569
Autor:
Damilola Olubando, Huw Thomas, Minoru Horie, Raymond T. O’Keefe, Luigi Venetucci, William Newman
Publikováno v:
Cardiogenetics, Vol 10, Iss 1 (2020)
Heterozygous RYR2 missense variants cause catecholaminergic polymorphic ventricular tachycardia. Rarely, loss of function variants can result in ventricular arrhythmias. We used splice prediction tools and an ex vivo splicing assay to investigate whe
Externí odkaz:
https://doaj.org/article/3123d2ecb4fc4e37ad753bcf24e96c21
Autor:
Katherine A Wood, Charlie F Rowlands, Huw B Thomas, Steven Woods, Julieta O'Flaherty, Sofia Douzgou, Susan J Kimber, William G Newman, Raymond T O'Keefe
Publikováno v:
PLoS ONE, Vol 15, Iss 7, p e0233582 (2020)
The craniofacial developmental disorder Burn-McKeown Syndrome (BMKS) is caused by biallelic variants in the pre-messenger RNA splicing factor gene TXNL4A/DIB1. The majority of affected individuals with BMKS have a 34 base pair deletion in the promote
Externí odkaz:
https://doaj.org/article/c678571fe6ac444081dd9b958bc2912b
Autor:
Siddharth Banka, Stavit Shalev, Soo-Mi Park, Katherine A Wood, Huw B Thomas, Helen L Wright, Mohammed Alyahya, Sean Bankier, Ola Alimi, Elena Chervinsky, Leo A H Zeef, Raymond T O’Keefe
Publikováno v:
BRAIN
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::523d62bd9a6409e8773d22d40b939bbe
https://doi.org/10.1093/brain/awac262
https://doi.org/10.1093/brain/awac262
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