Zobrazeno 1 - 10
of 66
pro vyhledávání: '"Andrew G L Douglas"'
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
Publikováno v:
BMJ Neurology Open, Vol 6, Iss 2 (2024)
Background C9orf72 hexanucleotide repeat expansions are the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in European populations. Variable disease penetrance between families presents a challenge
Externí odkaz:
https://doaj.org/article/79c88ae002fe4b1b9bca90f6b47ba5be
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:
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:
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:
Víctor Faundes, Martin D. Jennings, Siobhan Crilly, Sarah Legraie, Sarah E. Withers, Sara Cuvertino, Sally J. Davies, Andrew G. L. Douglas, Andrew E. Fry, Victoria Harrison, Jeanne Amiel, Daphné Lehalle, William G. Newman, Patricia Newkirk, Judith Ranells, Miranda Splitt, Laura A. Cross, Carol J. Saunders, Bonnie R. Sullivan, Jorge L. Granadillo, Christopher T. Gordon, Paul R. Kasher, Graham D. Pavitt, Siddharth Banka
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
eIF5A is critical for protein synthesis but has not yet been associated with congenital human disease. Here, the authors show that EIF5A variants cause a Mendelian disorder via reduced eIF5A-ribosome interactions and this phenotype is partially corre
Externí odkaz:
https://doaj.org/article/e484f6bf742d4dfaa468f76258820800
Autor:
Beatriz Suarez Martinez-Falero, Anastasia Koutalopoulou, Andrew G. L. Douglas, Mira Kharbanda, Morag N. Collinson, Andrew Lotery, Helen Lotery
Publikováno v:
Clinical and Experimental Dermatology. 47:2342-2345
A 39-year-old woman sought advice regarding potential risks to her offspring due to previous possible diagnosis of incontinentia pigmenti. She had linear hyperpigmentation along the lines of Blaschko affecting the upper and lower limbs, and skin-colo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::257f7eeb664ad784519191151ceda667
https://doi.org/10.1111/ced.15355
https://doi.org/10.1111/ced.15355
Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluation
Autor:
Gabriela Jones, Cheryl Stopford, Elisabeth Rosser, Katrina Merrifield, Henrietta Lefroy, Nicola S. Cooper, Lauren M Cairns, Sarah Buston, Andrew G L Douglas, Asma Hamad, Andrea H. Németh, Simon Holden, Julia Rankin, Vani Jain, Megan Rogers
Publikováno v:
Journal of Medical Genetics. 59:544-548
IntroductionMotor neuron disease (MND) and frontotemporal dementia (FTD) comprise a neurodegenerative disease spectrum. Genetic testing and counselling is complex in MND/FTD owing to incomplete penetrance, variable phenotype and variants of uncertain
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::290b526e3bb807a88ec11508af3f9fc0
https://doi.org/10.1136/jmedgenet-2021-107776
https://doi.org/10.1136/jmedgenet-2021-107776
Autor:
Htoo A. Wai, Matthew Constable, Cosima Drewes, Ian C. Davies, Eliska Svobodova, Esther Dempsey, Anand Saggar, Tessa Homfray, Sahar Mansour, Sofia Douzgou, Kate Barr, Catherine Mercer, David Hunt, Andrew G. L. Douglas, Diana Baralle
Publikováno v:
Human mutation. 43(7)
Use of blood RNA sequencing (RNA-seq) as a splicing analysis tool for clinical interpretation of variants of uncertain significance (VUSs) found via whole-genome and exome sequencing can be difficult for genes that have low expression in the blood du
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c731798f35613dcb48424f1eb521f46a
https://pubmed.ncbi.nlm.nih.gov/35476365
https://pubmed.ncbi.nlm.nih.gov/35476365