A5062944456- Skin and Cellular Biology Research
- Autoimmune Bullous Skin Diseases
- Wnt/β-catenin signaling in development and cancer
- Dermatological and Skeletal Disorders
- Hair Growth and Disorders
- Endoplasmic Reticulum Stress and Disease
- Cancer and Skin Lesions
- Dermatologic Treatments and Research
- IL-33, ST2, and ILC Pathways
- Muscle Physiology and Disorders
- Cytokine Signaling Pathways and Interactions
- Pharmacogenetics and Drug Metabolism
- Plant Surface Properties and Treatments
- Hereditary Neurological Disorders
- Neurological diseases and metabolism
- Transgenic Plants and Applications
- Sphingolipid Metabolism and Signaling
- Autoimmune and Inflammatory Disorders Research
- Inflammasome and immune disorders
- Connexins and lens biology
- Eosinophilic Disorders and Syndromes
- Lysosomal Storage Disorders Research
- T-cell and Retrovirus Studies
- Mast cells and histamine
- Sarcoma Diagnosis and Treatment
King's College London
2016-2025
Guy's and St Thomas' NHS Foundation Trust
2025
Guy's Hospital
2016-2023
Mutations in ceramide biosynthesis pathways have been implicated a few Mendelian disorders of keratinization, although ceramides are known to key roles several biological processes skin and other tissues. Using whole-exome sequencing four probands with undiagnosed hyperkeratosis/ichthyosis, we identified compound heterozygosity for mutations KDSR, encoding an enzyme the de novo synthesis pathway ceramides. Two individuals had hyperkeratosis confined palms, soles, anogenital skin, whereas two...
Heterozygous mutations in JAK1 which result JAK-STAT hyperactivity have been implicated an autosomal dominant disorder that features multi-organ immune dysregulation. This study identifies another previously unreported heterozygous missense mutation, H596D, individual with a unique autoinflammatory keratinization disease associated early-onset liver dysfunction and autism. Using CRISPR-Cas9 gene targeting, we generated mice identical Jak1 knock-in mutation ( H595D/+;I596I/+;Y597Y/+ mice)...
We developed mySkin, an online platform that captures self-report information from people with psoriasis across the UK, to improve our knowledge on environmental determinants of psoriasis. In this cross-sectional analysis first 529 participants, stress was most commonly reported trigger for both onset and worsening disease. Within individuals, triggers also often triggered disease worsening. did not observe a clear association between different subsequent severity. These findings highlight...
SPG45 is a rare form of autosomal recessive spastic paraplegia associated with mental retardation. Detailed phenotyping and mutation analysis was undertaken in three individuals from consanguineous family Arab Muslim origin. Using whole-exome sequencing, we identified novel homozygous missense NT5C2 (c.1379T>C; p.Leu460Pro). Our data expand the molecular basis SPG45, adding first to current database nonsense, frameshift, splice site mutations. mutations seem have broad clinical spectrum...
Abstract Background Desmosomes are complex cell junction structures that connect intermediate filaments providing strong cell-to-cell adhesion in tissues exposed to mechanical stress. Objectives To identify causal variants individuals with woolly hair and skin fragility of unknown genetic cause. Methods This research was conducted using whole-genome sequencing, whole-exome clinical phenotyping, haplotype analysis, single-cell RNA sequencing data immunofluorescence microscopy transmission...
Dermatofibromas (DFs) are common, benign fibrous skin tumors that can occur at any site. In most cases, DFs solitary and sporadic, but a few multiple familial, the mechanisms leading to these lesions currently unclear. Using exome sequencing, we have identified heterozygous variant in pedigree with autosomal dominant familial DF within RND3 (c.692C>T,p.T231M) encodes for small GTPase RhoE, regulator of actin cytoskeleton. Expression T231M-RhoE or RhoE depletion using CRISPR human dermal...