William Harvey Research Institute
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An optimised protocol for the detection of lipofuscin, a versatile and quantifiable marker of cellular senescence.
(Public Library of Science, 2024-07-15)Lipofuscin is a yellow-brown pigment typically found in the lysosomes that contains a mixture of molecules including lipids, metals and misfolded proteins. The use of Sudan black B to detect lipofuscin accumulation, a well ... -
A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery.
(2024-05-29)The Global Alliance for Genomics and Health (GA4GH) Phenopacket Schema was released in 2022 and approved by ISO as a standard for sharing clinical and genomic information about an individual, including phenotypic descriptions, ... -
Senescent endothelial cells promote pathogenic neutrophil trafficking in inflamed tissues
(EMBO Press, 2024-06-25)Cellular senescence is a hallmark of advanced age and a major instigator of numerous inflammatory pathologies. Whilst endothelial cell (EC) senescence is aligned with defective vascular functionality, its impact on fundamental ... -
Essential genes: a cross-species perspective.
(2023-09)Protein coding genes exhibit different degrees of intolerance to loss-of-function variation. The most intolerant genes, whose function is essential for cell or/and organism survival, inform on fundamental biological processes ... -
Lethal phenotypes in Mendelian disorders.
(Elsevier, 2024-04-13)PURPOSE: Existing resources that characterize the essentiality status of genes are based on either proliferation assessment in human cell lines, viability evaluation in mouse knockouts, or constraint metrics derived from ... -
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.
(Elsevier, 2023-08-03)By converting physical forces into electrical signals or triggering intracellular cascades, stretch-activated ion channels allow the cell to respond to osmotic and mechanical stress. Knowledge of the pathophysiological ... -
Computational identification of disease models through cross-species phenotype comparison.
(The Company of Biologists, 2024-07-01)The use of standardised phenotyping screens to identify abnormal phenotypes in mouse knockouts, together with the use of ontologies to describe such phenotypic features, allows the implementation of an automated and unbiased ... -
Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.
(Wiley, 2022-07-24)Technological advances in both genome sequencing and prenatal imaging are increasing our ability to accurately recognize and diagnose Mendelian conditions prenatally. Phenotype-driven early genetic diagnosis of fetal genetic ... -
Improving prenatal diagnosis through standards and aggregation.
(2024-04)Advances in sequencing and imaging technologies enable enhanced assessment in the prenatal space, with a goal to diagnose and predict the natural history of disease, to direct targeted therapies, and to implement clinical ... -
Quantifying stochasticity in the aging DNA methylome.
(Nature Research, 2024-05-16)Aging-related DNA methylation changes are numerous. Their precise measurement has opened new avenues to explore aging-related disease pathology, including the construction of chronological and biological age predictors ... -
Early Intravenous Beta-Blockade with Esmolol in Adults with Severe Traumatic Brain Injury: A Phase 2a Intervention Design Study.
(2024-06-28)BACKGROUND: Targeted beta-blockade after severe traumatic brain injury may reduce secondary brain injury by attenuating the sympathoadrenal response. The potential role and optimal dosage for esmolol, a selective, short-acting, ... -
Adenosine signalling to astrocytes coordinates brain metabolism and function.
(2024-07-03)Brain computation performed by billions of nerve cells relies on a sufficient and uninterrupted nutrient and oxygen supply1,2. Astrocytes, the ubiquitous glial neighbours of neurons, govern brain glucose uptake and ... -
Efficient generation of a stable CHO-K1 cell line overexpressing the human water channel Aquaporin-5 as tool to generate therapeutic antibodies.
(Nature Research, 10-07-2024)Aquaporins (AQPs) are a family of water permeable channels expressed on the plasma membrane with AQP5 being the major channel expressed in several human tissues including salivary and lacrimal glands. Anti-AQP5 autoantibodies ... -
The Society for Cardiovascular Magnetic Resonance Registry at 150,000
(Elsevier, 2024-07-04) -
Vaccinations, cardiovascular drugs, hospitalisation and mortality in COVID-19 and Long COVID.
(2024-06-26)OBJECTIVE: To identify highest-risk subgroups for COVID-19 and Long COVID(LC), particularly in contexts of influenza and cardiovascular disease(CVD). METHODS: Using national, linked electronic health records for England(NHS ... -
Management of Cardiac Sarcoidosis: A Clinical Consensus Statement of the Heart Failure Association, the European Association of Cardiovascular Imaging, the ESC Working Group on Myocardial & Pericardial Diseases and the European Heart Rhythm Association of the ESC
(Oxford University Press, 26-06-2024)Cardiac sarcoidosis (CS) is a form of inflammatory cardiomyopathy associated with significant clinical complications such as high-degree atrioventricular block, ventricular tachycardia, and heart failure as well as sudden ... -
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, ...