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Results: 180
Evidence of previous SARS-CoV-2 infection in seronegative patients with long COVID.
Benjamin A Krishna, Eleanor Y Lim, Lenette Mactavous, NIHR BioResource Team, Paul A Lyons, Rainer Doffinger, John R Bradley, Kenneth GC Smith, John Sinclair, Nicholas J Matheson, Paul J Lehner, Mark R Wills, Nyaradzai Sithole
Aug 01, 2022
BACKGROUND: There is currently no consensus on the diagnosis, definition, symptoms, or duration of COVID-19 illness. The diagnostic complexity of Long COVID is compounded in many patients who were or might have been infected...
Thiopurine monotherapy is effective in ulcerative colitis but significantly less so in Crohn's disease
Evangelos Stournaras, Wendi Qian, Apostolos Pappas, You Yi Hong, Rasha Shawky, UK IBD BioResource Investigators, Tim Raine, Miles Parkes, UK IBD Bioresource Investigators
Jul 20, 2020
OBJECTIVE: Thiopurines are widely used as maintenance therapy in inflammatory bowel disease (IBD) but the evidence base for their use is sparse and their role increasingly questioned. Using the largest series reported to date...
Germline mutations in the transcription factor IKZF5 cause thrombocytopenia.
Claire Lentaigne, Daniel Greene, Suthesh Sivapalaratnam, Remi Favier, Denis Seyres, Chantal Thys, Luigi Grassi, Sarah Mangles, Keith Sibson, Matthew Stubbs, Frances Burden, Jean-Claude Bordet, Corinne Armari-Alla, Wendy Erber, Samantha Farrow, Nicholas Gleadall, Keith Gomez, Karyn Megy, Sofia Papadia, Christopher J Penkett, Matthew C Sims, Luca Stefanucci, Jonathan C Stephens, Randy J Read, Kathleen E Stirrups, Willem H Ouwehand, Michael A Laffan, NIHR BioResource, Mattia Frontini, Kathleen Freson, Ernest Turro
Jan 02, 2020
To identify novel causes of hereditary thrombocytopenia, we performed a genetic association analysis of whole-genome sequencing data from 13 037 individuals enrolled in the National Institute for Health Research (NIHR)...
Phenotype Similarity Regression for Identifying the Genetic Determinants of Rare Diseases.
Telomerecat
Telomere length is a risk factor in disease and the dynamics of telomere length are crucial to our understanding of cell replication and vitality. The proliferation of whole genome sequencing represents an unprecedented...
Publisher Correction: Telomerecat
A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has been fixed in the paper.
Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH.
Na Zhu, Emilia M Swietlik, Carrie L Welch, Michael W Pauciulo, Jacob J Hagen, Xueya Zhou, Yicheng Guo, Johannes Karten, Divya Pandya, Tobias Tilly, Katie A Lutz, Jennifer M Martin, Carmen M Treacy, Erika B Rosenzweig, Usha Krishnan, Anna W Coleman, Claudia Gonzaga-Jauregui, Allan Lawrie, Richard C Trembath, Martin R Wilkins, Regeneron Genetics Center, PAH Biobank Enrolling Centers’ Investigators, NIHR BioResource for Translational Research - Rare Diseases, National Cohort Study of Idiopathic and Heritable PAH, Nicholas W Morrell, Yufeng Shen, Stefan Gräf, William C Nichols, Wendy K Chung
Jul 28, 2021
BACKGROUND: Pulmonary arterial hypertension (PAH) is a lethal vasculopathy characterized by pathogenic remodeling of pulmonary arterioles leading to increased pulmonary pressures, right ventricular hypertrophy, and heart...
Case-control association testing De novo variant analysis Exome Sequencing Genetics genome sequencing pulmonary arterial hypertension Adolescent Adult Age of Onset Aged Alleles Amino Acid Substitution Biomarkers Calcium-Binding Proteins Child Child Preschool Extracellular Matrix Proteins Female Genetic Predisposition to Disease genetic variation Genotype Humans Lymphokines Male Middle Aged Mutation Phenotype Platelet-Derived Growth Factor Population Surveillance pulmonary arterial hypertension United Kingdom United States Young Adult
PIGO deficiency
Marie-Anne Morren, Jaak Jaeken, Gepke Visser, Isabelle Salles, Chris van Geet, NIHR BioResource, Ilenia Simeoni, Ernest Turro Bassols, Kathleen Freson
May 31, 2018
NIHR BioResource Humans Keratoderma Palmoplantar Glycosylphosphatidylinositols Membrane Proteins Mutation Adolescent Male
Published by: Orphanet journal of rare diseases
How common are single gene mutations as a cause for lacunar stroke? A targeted gene panel study.
Rhea YY Tan, Matthew Traylor, Karyn Megy, Daniel Duarte, Sri VV Deevi, Olga Shamardina, Rutendo P Mapeta, NIHR BioResource: Rare Diseases Consortium, Willem H Ouwehand, Stefan Gräf, Kate Downes, Hugh S Markus
May 30, 2019
Predicting the Occurrence of Variants in RAG1 and RAG2.
Dylan Lawless, Hana Lango Allen, James Thaventhiran, NIHR BioResource–Rare Diseases Consortium, Flavia Hodel, Rashida Anwar, Jacques Fellay, Jolan E Walter, Sinisa Savic
Jan 03, 2020
While widespread genome sequencing ushers in a new era of preventive medicine, the tools for predictive genomics are still lacking. Time and resource limitations mean that human diseases remain uncharacterized because of an...
Levels of soluble complement regulators predict severity of COVID-19 symptoms.
Anna L Tierney, Wajd Mohammed Alali, Thomas Scott, Karen S Rees-Unwin, CITIID-NIHR BioResource COVID-19 Collaboration, Simon J Clark, Richard D Unwin
Nov 01, 2022
Familial wild-type gastrointestinal stromal tumour in association with germline truncating variants in both SDHA and PALB2.
James Whitworth, Ruth T Casey, Philip S Smith, Olivier Giger, Jose Ezequiel Martin, Graeme Clark, Jaqueline Cook, Marlee S Fernando, Phillipe Taniere, NIHR BioResource, Eamonn R Maher
Jul 28, 2021
Adult Aged Alleles Databases Genetic Family Fanconi Anemia Complementation Group N Protein Female Gastrointestinal Stromal Tumors Genetic Association Studies Genetic Predisposition to Disease Genotype Germ-Line Mutation Humans Immunohistochemistry Male Middle Aged Sequence Analysis DNA Succinate Dehydrogenase Symptom Assessment whole genome sequencing
Thiopurine monotherapy is effective in ulcerative colitis but significantly less so in Crohn’s disease
Evangelos Stournaras, Wendi Qian, Apostolos Pappas, You Yi Hong, Rasha Shawky, UK IBD BioResource Investigators, Tim Raine, Miles Parkes, UK IBD BioResource Investigators, Tariq Ahmad, Nick Kennedy, Peter Irving, Natalie Prescott, Charlie Lees, John Mansfield, Chris Lamb, Jack Satsangi, Alison Simmons, Alisa Hart, Sreedhar Subramanian, Chris Probert, Richard Shenderey, Anton Gunasekera, Klaartje Bel Kok, Babur Javaid, Leena Sinha, Salil Singh, Cathryn Preston, Mark Jarvis, Ruth Penn, Anjan Dhar, Achuth Shenoy, Kath Phillis, Arabis Oglesby, Jude Tilbury, Glyn Scott, Joseph Collum, Martyn Carter, Jamie Barbour, John Gordon, John Ramage, Ganesh Sivagi, Phil Roberts, Monica Bose, Shaji Sebastian, Joy Wilkins, Paul Banim, Alexana Kent, Ajay Verma, Dawn Warren, Alan Wiles, Matthew Johnson, Konrad Koss, Chirag Oza, Khalid Elamin, Annette Woods, Bijay Baburajan, Chris MacDonald, Byron Theron, Mark Tremelling, Udi Shmueli, Roisin Bevan, Jimmy Limdi, Prakash Nair, Deven Vani, Stephen Lewis, Michelle Baker-Moffat, Gordon Moran, Simon McLaughlin, Aminda de Silva, John Beckly, Anew Cole, Charles Murray, Alan Lobo, Melissa Smith, Sanju Mathew, John Saunders, Helen Steed, Matthew Brookes, Juliette Loehry, Monira Rahman, Jeff Butterworth, Ajay Muddu, Katie Clark, Christian Selinger, Arvind Ramadas, John McLaughlin, Richard Pollok, Colin Rees, Simon Panter, David Hobday, Stephen Foley, Vinod Patel, Emma Wesley, Daniel Gavin, Cathryn Edwards, Stuart Bloom, Chuka Nwokolo, John deCaestecker, Mina Hanna, Albert Davies, Laura Hancock, Fraser Cummings, Subramaniam Ramakrishnan, Theresa Tindall, Jonathan Landy, Richard Appleby, Dan Sharpstone, Andy Li, Richard Keld, Lin Mear, Anne Philips, Horace Willia, Laura Hancock Ben Warner, Dharmaraj Durai, Elaine Brinkworth, Zahid Mahmood, Rachel Cooney
Oct 06, 2020
Objective: Thiopurines are widely used as maintenance therapy in inflammatory bowel disease (IBD) but the evidence base for their use is sparse and their role increasingly questioned. Using the largest series reported to date...
PIGO deficiency
Marie-Anne Morren, Jaak Jaeken, Gepke Visser, Isabelle Salles, Chris van Geet, NIHR BioResource, Ilenia Simeoni, Ernest Turro, Kathleen Freson
May 26, 2017
BACKGROUND: Several genetic defects have been identified in the glycosylphosphatidylinositol (GPI) anchor synthesis, including mutations in PIGO encoding phosphatidylinositol glycan anchor biosynthesis class O protein. These...
Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate.
Alba Sanchis-Juan, Marcia A Hasenahuer, James A Baker, Amy McTague, Katy Barwick, Manju A Kurian, Sofia T Duarte, NIHR BioResource, Keren J Carss, Janet Thornton, F Lucy Raymond
Jan 15, 2020
Ensuring that COVID-19 research is inclusive
Miles D Witham, Eleanor Anderson, Camille B Carroll, Paul M Dark, Kim Down, Alistair S Hall, Joanna Knee, Eamonn R Maher, Rebecca H Maier, Gail A Mountain, Gary Nestor, John T O'Brien, Laurie Oliva, James Wason, Lynn Rochester, NIHR CRN INCLUDE Steering Group
Oct 23, 2020
OBJECTIVE: To provide guidance to researchers, funders, regulators and study delivery teams to ensure that research on COVID-19 is inclusive, particularly of groups disproportionately affected by COVID-19 and who may have been...
Altered fibrinolysis in autosomal dominant thrombomodulin-associated coagulopathy.
Kate Burley, Claire S Whyte, Sarah K Westbury, Mary Walker, Kathleen E Stirrups, Ernest Turro, NIHR BioResource, Oliver G Chapman, Christopher Reilly-Stitt, Nicola J Mutch, Andrew D Mumford
May 31, 2018
Thrombomodulin-associated coagulopathy (TM-AC) is a newly recognized dominant bleeding disorder in which a p.Cys537Stop variant in the thrombomodulin (TM) gene THBD, results in high plasma TM levels and protein C-mediated...
Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data.
Xiao Chen, Alba Sanchis-Juan, Courtney E French, Andrew J Connell, Isabelle Delon, Zoya Kingsbury, Aditi Chawla, Aaron L Halpern, Ryan J Taft, NIHR BioResource, David R Bentley, Matthew ER Butchbach, F Lucy Raymond, Michael A Eberle
Feb 17, 2021
PURPOSE: Spinal muscular atrophy (SMA), caused by loss of the SMN1 gene, is a leading cause of early childhood death. Due to the near identical sequences of SMN1 and SMN2, analysis of this region is challenging. Population-wide...
Characterization of renal cell carcinoma-associated constitutional chromosome abnormalities by genome sequencing.
Philip S Smith, James Whitworth, Hannah West, Jacqueline Cook, Carol Gardiner, Derek Hk Lim, Patrick J Morrison, R Gordon Hislop, Emily Murray, NIHR Rare Disease BioResource, Marc Tischkowitz, Anne Y Warren, Emma R Woodward, Eamonn R Maher
Jan 22, 2020
Constitutional translocations, typically involving chromosome 3, have been recognized as a rare cause of inherited predisposition to renal cell carcinoma (RCC) for four decades. However, knowledge of the molecular basis of this...
Genetics renal cell carcinoma Translocation whole genome sequencing Acid Anhydride Hydrolases Adult Aged Carcinoma Renal Cell Chromosome Aberrations Chromosome Breakpoints Chromosomes Human Pair 3 Female Genetic Testing Humans Kidney Neoplasms Male Middle Aged Neoplasm Proteins Protein Serine-Threonine Kinases Proto-Oncogene Proteins Sequence Analysis DNA Tumor Suppressor Proteins ras Guanine Nucleotide Exchange Factors
Demographic, behavioural and occupational risk factors associated with SARS-CoV-2 infection in UK healthcare workers
Daniel James Cooper, Sara Lear, Nyarie Sithole, Ashley Shaw, Hannah Stark, Mark Ferris, CITIID-NIHR BioResource COVID-19 collaboration consortium, John Bradley, Patrick Maxwell, Ian Goodfellow, Michael P Weekes, Shaun Seaman, Stephen Baker
Dec 09, 2022
OBJECTIVE: Healthcare workers (HCWs) are at higher risk of SARS-CoV-2 infection than the general population. This group is pivotal to healthcare system resilience during the COVID-19, and future, pandemics. We investigated...
Demographic, behavioural and occupational risk factors associated with SARS-CoV-2 infection in UK healthcare workers
Expression Quantitative Trait Locus Mapping in Pulmonary Arterial Hypertension.
Anna Ulrich, Pablo Otero-Núñez, John Wharton, Emilia M Swietlik, Stefan Gräf, Nicholas W Morrell, Dennis Wang, Allan Lawrie, Martin R Wilkins, Inga Prokopenko, Christopher J Rhodes, On Behalf Of The Nihr BioResource-Rare Diseases Consortium, UK PAH Cohort Study Consortium
Jan 08, 2021
Expression quantitative trait loci (eQTL) can provide a link between disease susceptibility variants discovered by genetic association studies and biology. To date, eQTL mapping studies have been primarily conducted in healthy...
Blood eQTL expression quantitative trait locus Genetics pulmonary arterial hypertension Base Sequence Familial Primary Pulmonary Hypertension Female Genetic Association Studies Genetic Predisposition to Disease Genome Genome-Wide Association Study Humans Male Polymorphism Single Nucleotide pulmonary arterial hypertension Quantitative Trait Loci Sequence Analysis RNA Transcriptome
Expression Quantitative Trait Locus Mapping in Pulmonary Arterial Hypertension
Anna Ulrich, Pablo Otero-Núñez, John Wharton, Emilia M. Swietlik, Stefan Gräf, Nicholas W. Morrell, Dennis Wang, Allan Lawrie, Martin R. Wilkins, Inga Prokopenko, Christopher J. Rhodes, on behalf of The NIHR BioResource—Rare Diseases Consortium, UK PAH Cohort Study Consortium
Oct 23, 2020
Expression quantitative trait loci (eQTL) can provide a link between disease susceptibility variants discovered by genetic association studies and biology. To date, eQTL mapping studies have been primarily conducted in healthy...
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