Zobrazeno 1 - 10
of 149
pro vyhledávání: '"diana baralle"'
Autor:
Carolina Jaramillo Oquendo, Htoo A. Wai, Wil I. Rich, David J. Bunyan, N. Simon Thomas, David Hunt, Jenny Lord, Andrew G. L. Douglas, Diana Baralle
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-19 (2024)
Abstract Background RNA sequencing (RNA-seq) is increasingly being used as a complementary tool to DNA sequencing in diagnostics where DNA analysis has been uninformative. RNA-seq enables the identification of aberrant splicing and aberrant gene expr
Externí odkaz:
https://doaj.org/article/45132a90469347a28af8c2c77be166ff
Autor:
Htoo A. Wai, Eliska Svobodova, Natalia Romero Herrera, Andrew G. L. Douglas, John W. Holloway, Francisco E. Baralle, Marco Baralle, Diana Baralle
Publikováno v:
Experimental and Molecular Medicine, Vol 56, Iss 8, Pp 1816-1825 (2024)
Abstract Effective translation of rare disease diagnosis knowledge into therapeutic applications is achievable within a reasonable timeframe; where mutations are amenable to current antisense oligonucleotide technology. In our study, we identified fi
Externí odkaz:
https://doaj.org/article/68cbfaef62044777968f0b7d27f4a829
Autor:
Jamie M. Ellingford, Joo Wook Ahn, Richard D. Bagnall, Diana Baralle, Stephanie Barton, Chris Campbell, Kate Downes, Sian Ellard, Celia Duff-Farrier, David R. FitzPatrick, John M. Greally, Jodie Ingles, Neesha Krishnan, Jenny Lord, Hilary C. Martin, William G. Newman, Anne O’Donnell-Luria, Simon C. Ramsden, Heidi L. Rehm, Ebony Richardson, Moriel Singer-Berk, Jenny C. Taylor, Maggie Williams, Jordan C. Wood, Caroline F. Wright, Steven M. Harrison, Nicola Whiffin
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-19 (2022)
Abstract Background The majority of clinical genetic testing focuses almost exclusively on regions of the genome that directly encode proteins. The important role of variants in non-coding regions in penetrant disease is, however, increasingly being
Externí odkaz:
https://doaj.org/article/592317068741464ab4f2701a8ccc78e4
Autor:
Alexander J. M. Blakes, Htoo A. Wai, Ian Davies, Hassan E. Moledina, April Ruiz, Tessy Thomas, David Bunyan, N. Simon Thomas, Christine P. Burren, Lynn Greenhalgh, Melissa Lees, Amanda Pichini, Sarah F. Smithson, Ana Lisa Taylor Tavares, Peter O’Donovan, Andrew G. L. Douglas, Genomics England Research Consortium, Splicing and Disease Working Group, Nicola Whiffin, Diana Baralle, Jenny Lord
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-11 (2022)
Abstract Background Genomic variants which disrupt splicing are a major cause of rare genetic diseases. However, variants which lie outside of the canonical splice sites are difficult to interpret clinically. Improving the clinical interpretation of
Externí odkaz:
https://doaj.org/article/dfdeeb798f424c30af5b1c761fbdb704
Autor:
Siying Lin, Aida Sanchez-Bretaño, Joseph S. Leslie, Katie B. Williams, Helena Lee, N. Simon Thomas, Jonathan Callaway, James Deline, J. Arjuna Ratnayaka, Diana Baralle, Melanie A. Schmitt, Chelsea S. Norman, Sheri Hammond, Gaurav V. Harlalka, Sarah Ennis, Harold E. Cross, Olivia Wenger, Andrew H. Crosby, Emma L. Baple, Jay E. Self
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-11 (2022)
Abstract Oculocutaneous albinism type 1 (OCA1) is caused by pathogenic variants in the TYR (tyrosinase) gene which encodes the critical and rate-limiting enzyme in melanin synthesis. It is the most common OCA subtype found in Caucasians, accounting f
Externí odkaz:
https://doaj.org/article/8ddc9109fec74dd780fb8658772b15c8
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:
Rebekah Penrice-Randal, Xiaofeng Dong, Andrew George Shapanis, Aaron Gardner, Nicholas Harding, Jelmer Legebeke, Jenny Lord, Andres F. Vallejo, Stephen Poole, Nathan J. Brendish, Catherine Hartley, Anthony P. Williams, Gabrielle Wheway, Marta E. Polak, Fabio Strazzeri, James P. R. Schofield, Paul J. Skipp, Julian A. Hiscox, Tristan W. Clark, Diana Baralle
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
BackgroundThe COVID-19 pandemic has created pressure on healthcare systems worldwide. Tools that can stratify individuals according to prognosis could allow for more efficient allocation of healthcare resources and thus improved patient outcomes. It
Externí odkaz:
https://doaj.org/article/919dbb10fdda47859e6b536e0d1cbd3a
Temporal Whole-Transcriptomic Analysis of Characterized In Vitro and Ex Vivo Primary Nasal Epithelia
Autor:
Jelmer Legebeke, Katie L. Horton, Claire L. Jackson, Janice Coles, Amanda Harris, Htoo A. Wai, John W. Holloway, Gabrielle Wheway, Diana Baralle, Jane S. Lucas
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
Air-liquid interface (ALI) cell culture of primary airway progenitors enables the differentiation and recapitulation of a pseudostratified epithelium in vitro, providing a highly useful tool for researching respiratory health and disease. Previous st
Externí odkaz:
https://doaj.org/article/a2b10b129499446894bc09b1f234580b
Autor:
William L. Macken, Annie Godwin, Gabrielle Wheway, Karen Stals, Liliya Nazlamova, Sian Ellard, Ahmed Alfares, Taghrid Aloraini, Lamia AlSubaie, Majid Alfadhel, Sulaiman Alajaji, Htoo A. Wai, Jay Self, Andrew G. L. Douglas, Alexander P. Kao, Matthew Guille, Diana Baralle
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)
Abstract Background Coat protein complex 1 (COPI) is integral in the sorting and retrograde trafficking of proteins and lipids from the Golgi apparatus to the endoplasmic reticulum (ER). In recent years, coat proteins have been implicated in human di
Externí odkaz:
https://doaj.org/article/80c8d687a6984db2bccd3da2c3505ebc
Autor:
Jelmer Legebeke, Jenny Lord, Rebekah Penrice-Randal, Andres F. Vallejo, Stephen Poole, Nathan J. Brendish, Xiaofeng Dong, Catherine Hartley, John W. Holloway, Jane S. Lucas, Anthony P. Williams, Gabrielle Wheway, Fabio Strazzeri, Aaron Gardner, James P. R. Schofield, Paul J. Skipp, Julian A. Hiscox, Marta E. Polak, Tristan W. Clark, Diana Baralle
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
The worldwide COVID-19 pandemic has claimed millions of lives and has had a profound effect on global life. Understanding the body’s immune response to SARS-CoV-2 infection is crucial in improving patient management and prognosis. In this study we
Externí odkaz:
https://doaj.org/article/f46b555a1c314f3fb50bd6cabe819aa8