A5068540785- RNA Research and Splicing
- Elbow and Forearm Trauma Treatment
- Genetic Neurodegenerative Diseases
- Congenital heart defects research
- Psoriasis: Treatment and Pathogenesis
- Mitochondrial Function and Pathology
- Neuroinflammation and Neurodegeneration Mechanisms
- Cardiomyopathy and Myosin Studies
- RNA and protein synthesis mechanisms
- Single-cell and spatial transcriptomics
- Asthma and respiratory diseases
- Genomics and Rare Diseases
- CRISPR and Genetic Engineering
- Microtubule and mitosis dynamics
- Dermatology and Skin Diseases
- Nuclear Structure and Function
- Retinal Diseases and Treatments
- Hemoglobin structure and function
- Retinal Development and Disorders
- Nail Diseases and Treatments
- Shoulder Injury and Treatment
- Diabetes and associated disorders
- Orthopedic Surgery and Rehabilitation
- Photosynthetic Processes and Mechanisms
- Williams Syndrome Research
University College London
2020-2024
St George's, University of London
2023
Institute of Cancer Research
2021
Great Ormond Street Hospital
2020
Institute of Child Health
2019
University of Göttingen
2001
Abstract The thymus is a primary lymphoid organ, essential for T cell maturation and selection. There has been long-standing interest in processes underpinning generation the potential to manipulate it clinically, because alterations of development or function can result severe immunodeficiency autoimmunity. Here, we identify epithelial-mesenchymal hybrid cells, capable long-term expansion vitro, able reconstitute an anatomic phenocopy native thymus, when combined with thymic interstitial...
Inherited cardiomyopathies are a prevalent cause of heart failure and sudden cardiac death. Both hypertrophic (HCM) dilated cardiomyopathy (DCM) genetically heterogeneous typically present with an autosomal dominant mode transmission. Whole exome sequencing autozygosity mapping was carried out in eight un-related probands from consanguineous Middle Eastern families presenting HCM/DCM followed by bioinformatic co-segregation analysis to predict the potential pathogenicity candidate variants....
Abstract Mutations in the SNX14 gene cause spinocerebellar ataxia, autosomal recessive 20 (SCAR20) both humans and dogs. Studies implicating phenotypic consequences of mutations to be subcellular disruption autophagy lipid metabolism have been limited vitro investigation patient-derived dermal fibroblasts, laboratory engineered cell lines developmental analysis zebrafish morphants. homologues Snz ( Drosophila ) Mdm1 (yeast) also conducted, demonstrated an important biochemical role during...
PurposeConditions and thresholds applied for evidence weighting of within-codon concordance (PM5) pathogenicity vary widely between laboratories expert groups. Because the sparseness available clinical classifications, there is little variation in practice.MethodsWe used as a truthset 7541 dichotomous functional classifications BRCA1 MSH2, spanning 311 codons 918 generated from large-scale assays that have been shown to correlate excellently with classifications. We assessed PM5 at 5...
Reactive oxygen species (ROS) within the retina play a key role in maintaining function and cell survival. However, excessive ROS can lead to oxidative stress, inducing dysregulation of metabolic inflammatory pathways. The chmru848 zebrafish models choroideremia (CHM), an X-linked chorioretinal dystrophy, which predominantly affects photoreceptors, retinal pigment epithelium (RPE), choroid. In this study, we examined transcriptomic signature reveal upregulation cytokine pathways glia...
Abstract Mutations in the SNX14 gene cause spinocerebellar ataxia, autosomal recessive 20 (SCAR20) both humans and dogs. SCAR20 is understood to involve subcellular disruption autophagy lipid metabolism. Previously reported studies on phenotypic consequences of mutations have been limited vitro investigation patient-derived dermal fibroblasts, laboratory engineered cell lines developmental analysis zebrafish morphants. In addition, investigated biochemical roles homologues Snz ( Drosophila )...