Explanipedia

Cell-type-resolved genetic regulatory variation shapes inflammatory bowel disease risk Open

Tobi Alegbe, Bradley T. Harris, Laura Fachal, Lucia Ramirez-Navarro, Marcus Tutert , et al. · 2025

Most genetic variants associated with complex diseases lie in non-coding regions, complicating efforts to identify effector genes and relevant cell types. Here, we map cis-eQTLs across 2.2 million single cells from blood and intestinal bio…

Tissue-specific and circulatory immune signatures of mucosal inflammation in Crohn’s disease Open

Lucia Ramirez-Navarro, Gareth‐Rhys Jones, Tobi Alegbe, Bradley T. Harris, Michelle Strickland , et al. · 2025

Crohn’s disease (CD) is a heterogeneous disease characterized by chronic inflammation of the gastrointestinal tract driven by an aberrant immune response. To understand the immune mechanisms underlying mucosal inflammation, we performed si…

Fine-mapping and molecular characterisation of primary sclerosing cholangitis genetic risk loci Open

Elizabeth C. Goode, Laura Fachal, Nikolaos Panousis, Loukas Moutsianas, Rebecca E. McIntyre , et al. · 2024

Defining predictors of responsiveness to advanced therapies in Crohn’s disease and ulcerative colitis: protocol for the IBD-RESPONSE and nested CD-metaRESPONSE prospective, multicentre, observational cohort study in precision medicine Open

Nicola J Wyatt, Hannah Watson, Carl A. Anderson, Nicholas A. Kennedy, Tim Raine , et al. · 2024

Introduction Characterised by chronic inflammation of the gastrointestinal tract, inflammatory bowel disease (IBD) symptoms including diarrhoea, abdominal pain and fatigue can significantly impact patient’s quality of life. Therapeutic dev…

The hypermorphic PLCγ2 S707Y variant dysregulates microglial cell function – insight into PLCγ2 activation in brain health and disease, and opportunities for therapeutic modulation Open

Daniel N. Bull, Julie C. Matte, Carmen M. Navarrón, Rebecca E. McIntyre, Paul J. Whiting , et al. · 2023

Phospholipase C-gamma 2 (PLCγ2) is highly expressed in hematopoietic and immune cells, where it is a key signalling node enabling diverse cellular functions. Within the periphery, gain-of-function (GOF) PLCγ2 variants, such as the strongly…

Single-Cell RNA Sequencing of Terminal Ileal Biopsies Identifies Signatures of Crohn’s Disease Pathogenesis Open

Monika Krzak, Tobi Alegbe, D. Leland Taylor, Mennatallah Ghouraba, Michelle Strickland , et al. · 2023

Summary Crohn’s disease (CD) is a chronic inflammatory bowel disease exhibiting substantial heterogeneity in clinical presentation and response to therapy. To explore its molecular basis, we developed IBDverse, the largest single-cell RNA …

Considerations for peripheral blood transport and storage during large-scale multicentre metabolome research Open

James L. Alexander, Nicola J Wyatt, Stéphane Camuzeaux, Elena Chekmeneva, Beatriz Jiménez , et al. · 2023

We read with interest the multiomic studies by Kong et al and Chen et al examining gut microbiome-metabolome interactions and potential diagnostic and classification biomarkers in colorectal cancer.1 2 Large-scale, multicentre, multisample…

Gut mucosa dissociation protocols influence cell type proportions and single-cell gene expression levels Open

Werna T. Uniken Venema, Aarón D. Ramírez-Sánchez, Emilia Bigaeva, Sebo Withoff, Iris H. Jonkers , et al. · 2022

Single-cell RNA sequencing (scRNA-seq) has revolutionized the study of the cellular landscape of organs. Most single-cell protocols require fresh material, which limits sample size per experiment, and consequently, introduces batch effects…

OP14 Interpreting genome-wide association studies of Inflammatory Bowel Disease through the lens of single-cell sequencing Open

Monika Krzak, L D Taylor, Tobi Alegbe, Mennatallah Ghouraba, Mark C. Strickland , et al. · 2022

Background Inflammatory bowel disease (IBD) is a complex disease characterised by chronic inflammation of the digestive tract. Genome-wide association studies (GWAS) have identified 241 risk loci significantly associated with the two commo…

Transcriptomic effects of rs4845604, an IBD and allergy-associated RORC variant, in stimulated ex vivo CD4+ T cells Open

Paul A. Wilson, Sara Santos Franco, He Liu, N. W. Galwey, Jackie Meakin , et al. · 2021

RORγt is an isoform of RORC, preferentially expressed in Th17 cells, that functions as a critical regulator of type 3 immunity. As murine Th17-driven inflammatory disease models were greatly diminished in RORC knock-out mice, this receptor…

Transcriptome and colocalisation analysis of CCR9+ gut-homing T cells and other immune cells identifies important genes and biological pathways potentiating primary sclerosing cholangitis risk Open

Elizabeth C. Goode, Nikolaos Panousis, Laura Fachal, Loukas Moutsianas, Ben Bai , et al. · 2020

Somatic Evolution in Non-neoplastic IBD-Affected Colon Open

Sigurgeir Ólafsson, Rebecca E. McIntyre, Tim Coorens, Timothy Butler, Hyunchul Jung , et al. · 2020

A quality improvement project for delirium prevention and management over the Greater Manchester Critical Care Network Open

Jessica Davis, Karen Berry, Rebecca E. McIntyre, Daniel Conway, Anthony Thomas , et al. · 2020

Background Delirium is a common complication of critical illness with a significant impact on patient morbidity and mortality. The Greater Manchester Critical Care Network established the Delirium Reduction Working Group in 2015. This arti…

DOP50 The landscape of somatic mutations in non-neoplastic IBD-affected colon Open

Sigurgeir Ólafsson, Rebecca E. McIntyre, Tim H. H. Coorens, Timothy Butler, Philip S. Robinson , et al. · 2020

Background Under normal physiological conditions, colonic crypts accrue ~40 somatic mutations for every year of life. That somatic mutations contribute to the development of cancer is well established, but their patterns, burden and functi…

Somatic Evolution in Non-Neoplastic IBD-Affected Colon Open

Sigurgeir Ólafsson, Rebecca E. McIntyre, Tim H. H. Coorens, Timothy Butler, Hyunchul Jung , et al. · 2020

Somatic evolution in non-neoplastic IBD-affected colon Open

Sigurgeir Ólafsson, Rebecca E. McIntyre, Tim H. H. Coorens, Timothy Butler, Hyunchul Jung , et al. · 2019

Summary paragraph Inflammatory bowel disease (IBD) is a chronic inflammatory disease associated with increased risk of gastrointestinal cancers. Here, we whole-genome sequenced 447 colonic crypts from 46 IBD patients, and compared these to…

MEK1/2 inhibitor withdrawal reverses acquired resistance driven by BRAFV600E amplification whereas KRASG13D amplification promotes EMT-chemoresistance Open

Matthew J. Sale, Kathryn Balmanno, Jayeta Saxena, Eiko Ozono, Katarzyna Wojdyła , et al. · 2019

Multiomics Analyses to Deliver the Most Effective Treatment to Every Patient With Inflammatory Bowel Disease Open

Rinse K. Weersma, Ramnik J. Xavier, Séverine Vermeire, Jeffrey C. Barrett, Rinse K. Weersma , et al. · 2018

A Genome-Wide Association Study for Regulators of Micronucleus Formation in Mice Open

Rebecca E. McIntyre, Jérôme Nicod, Carla Daniela Robles‐Espinoza, John Maciejowski, Na Cai , et al. · 2016

In mammals the regulation of genomic instability plays a key role in tumor suppression and also controls genome plasticity, which is important for recombination during the processes of immunity and meiosis. Most studies to identify regulat…

Genome-wide association of multiple complex traits in outbred mice by ultra-low-coverage sequencing Open

Jérôme Nicod, R. W. Davies, Na Cai, Carl Hassett, Leo Goodstadt , et al. · 2016

Mouse models of colorectal cancer as preclinical models Open

Rebecca E. McIntyre, Simon J. A. Buczacki, Mark J. Arends, David J. Adams · 2015

In this review, we discuss the application of mouse models to the identification and pre‐clinical validation of novel therapeutic targets in colorectal cancer, and to the search for early disease biomarkers. Large‐scale genomic, transcript…

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