William Harvey Research Institute
Browse by
Recent Submissions
-
Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome.
(American Society for Clinical Investigation, 2024-03-22)Silver-Russell syndrome (SRS) is a heterogeneous disorder characterized by intrauterine and postnatal growth retardation. HMGA2 variants are a rare cause of SRS and its functional role in human linear growth is unclear. ... -
Pathogenic <i>SPTBN1</i> variants cause an autosomal dominant neurodevelopmental syndrome
(Nature Research, 2021-07-01)SPTBN1 encodes βII-spectrin, the ubiquitously expressed β-spectrin that forms micrometer-scale networks associated with plasma membranes. Mice deficient in neuronal βII-spectrin have defects in cortical organization, ... -
β1-Integrin-Mediated Uptake of Chondrocyte Extracellular Vesicles Regulates Chondrocyte Homeostasis.
(MDPI, 2024-04-26)Osteoarthritis (OA) is the most prevalent age-related degenerative disorder, which severely reduces the quality of life of those affected. Whilst management strategies exist, no cures are currently available. Virtually all ... -
Blocking T cell co-stimulation in primary Sjögren's syndrome: rationale, clinical efficacy and modulation of peripheral and salivary gland biomarkers.
(2020)There is accumulating evidence that patients with primary Sjögren's syndrome (pSS) display aberrant CD4+ T cell responses, both in the peripheral compartment and in the inflamed salivary glands. CD4+ T cell abnormalities ... -
One year in review 2020: pathogenesis of primary Sjögren's syndrome.
(2020)The pathogenesis of primary Sjögren's syndrome (pSS) remains poorly understood. However, important efforts have been made during the last few months. In this review, following the others of this series we will summarise ... -
CD8+ tissue-resident memory T cells are expanded in primary Sjögren's disease and can be therapeutically targeted by CD103 blockade.
(2024-05-22)OBJECTIVE: Tissue-resident memory cells (Trm) are a subset of T cells residing persistently and long-term within specific tissues that contribute to persistent inflammation and tissue damage. We characterised the phenotype ... -
Derived myeloid lineage induced pluripotent stem as a platform to study human C-C chemokine receptor type 5Δ32 homozygotes.
(Elsevier, 2023-10-26)The C-C chemokine receptor type 5 (CCR5) expressed on immune cells supports inflammatory responses by directing cells to the inflammation site. CCR5 is also a major coreceptor for macrophage tropic human immunodeficiency ... -
Assessing the oral and suprahyoid muscles in healthy adults using muscle ultrasound to inform the swallowing process: a proof-of-concept study.
(2024-06-08)The oral and suprahyoid muscles are responsible for movements of swallowing. Our study aimed to determine the reproducibility of static and dynamic measurements of these muscles using bedside ultrasound equipment. Forty ... -
A redox-based characterization of human immune cell subsets by polychromatic flow cytometry.
(2023-12-15)Cellular redox state determinants are traditionally studied using fluorescent microscopy and immunoblot analysis; however, no procedure has been developed for simultaneous measurement in various immune cell subsets. Here, ... -
CCL14 testing to guide clinical practice in patients with AKI: Results from an international expert panel.
(Elsevier, 2024-04-27)PURPOSE: Urinary C-C motif chemokine ligand 14 (CCL14) is a strong predictor of persistent stage 3 acute kidney injury (AKI). Multiple clinical actions are recommended for AKI but how these are applied in individual patients ... -
Assessing the role of Chemokine (C-C motif) ligand 14 in AKI: a European consensus meeting.
(Taylor & Francis, 2024-04-26)BACKGROUND: Urinary Chemokine (C-C motif) ligand 14 (CCL14) is a biomarker associated with persistent severe acute kidney injury (AKI). There is limited data to support the implementation of this AKI biomarker to guide ... -
An update on the genetic drivers of corticotroph tumorigenesis
(2024-01-01)The genetic landscape of corticotroph tumours of the pituitary gland has dramatically changed over the last 10 years. Somatic changes in USP8 account for the most common genetic defect in corticotrophinomas, especially in ... -
Machine Learning of Cardiac Anatomy and the Risk of New-Onset Atrial Fibrillation After TAVR.
(2024-05-16)BACKGROUND: New-onset atrial fibrillation (NOAF) occurs in 5% to 15% of patients who undergo transfemoral transcatheter aortic valve replacement (TAVR). Cardiac imaging has been underutilized to predict NOAF following TAVR. ... -
High-throughput mass spectrometry maps the sepsis plasma proteome and differences in patient response.
(2024-06-05)Sepsis, the dysregulated host response to infection causing life-threatening organ dysfunction, is a global health challenge requiring better understanding of pathophysiology and new therapeutic approaches. Here, we applied ... -
Impact of comorbidities on EQ5D quality of life index in severe asthma
(Elsevier, 2024-05-31)