A5088172921- Skin and Cellular Biology Research
- Autoimmune Bullous Skin Diseases
- Dermatological and Skeletal Disorders
- Nail Diseases and Treatments
- Cell Adhesion Molecules Research
- Cellular Mechanics and Interactions
- Wnt/β-catenin signaling in development and cancer
- Ocular and Laser Science Research
- RNA regulation and disease
- Hair Growth and Disorders
- Genetic and rare skin diseases.
- Connective tissue disorders research
- Plant Reproductive Biology
- Silk-based biomaterials and applications
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Contact Dermatitis and Allergies
- Retinal Development and Disorders
- melanin and skin pigmentation
- Dermatologic Treatments and Research
- Cutaneous lymphoproliferative disorders research
- Eosinophilic Disorders and Syndromes
- Cancer-related Molecular Pathways
- Dermatology and Skin Diseases
- Cancer and Skin Lesions
- Intraocular Surgery and Lenses
King's College London
2016-2025
Guy's and St Thomas' NHS Foundation Trust
2016-2025
Guy's Hospital
2010-2024
Royal Children's Hospital
2024
Great Ormond Street Hospital for Children NHS Foundation Trust
2013-2024
St Thomas' Hospital
2006-2023
St John's Hospital
2006-2023
Hospital Infantil Universitario Niño Jesús
2022-2023
Fundación Instituto Valenciano de Oncología
2022-2023
Helsinki University Hospital
2022-2023
Lipoid proteinosis (LP), also known as hyalinosis cutis et mucosae or Urbach-Wiethe disease (OMIM 247100) is a rare, autosomal recessive disorder typified by generalized thickening of skin, and certain viscera. Classical features include beaded eyelid papules laryngeal infiltration leading to hoarseness. Histologically, there widespread deposition hyaline (glycoprotein) material disruption/reduplication basement membrane. The aetiology LP currently unknown. Using DNA from three affected...
To assess the clinical outcomes of 45 cases harlequin ichthyosis and review underlying ABCA12 gene mutations in these patients.Multicenter, retrospective, questionnaire-based survey.Dermatology research institute.Patients with for whom we had performed mutation analysis.Referring physicians were asked to complete a questionnaire using patients' notes, detailing outcome affected child. In each case, causative was identified standard polymerase chain reaction sequencing techniques.Of cases,...
Fibroblast cell therapy can modify disease biology in recessive dystrophic epidermolysis bullosa (RDEB) although whether it improves wound healing is not clear. To assess the effects of injecting allogeneic fibroblasts into margins chronic erosions individuals with RDEB a prospective, double‐blind, randomized, vehicle‐controlled phase II trial. Erosions were randomized 1 : 1, to either single treatment 5 × 106 per linear cm erosion margin or vehicle. All subjects continued standard care. The...
Early-onset squamous cell carcinoma in recessive dystrophic epidermolysis bullosa patients is characterized by APOBEC mutagenesis.
Epidermolysis bullosa (EB) is a group of inherited disorders characterized by skin and mucous membrane fragility. Gastrointestinal (GI) complications have been described in many types EB are responsible for significant morbidity.To delineate the nature frequency GI large cohort paediatric patients with to postulate why some occur more commonly specific subtypes.The case notes 223 children seen at national referral centre were examined retrospectively presence symptoms, investigations...
Journal Article Whole‐exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory Get access T. Takeichi, Takeichi St John's Institute of Dermatology King's College London (Guy's Campus) U.KDepartment Nagoya University Graduate School Medicine Japan Search for other works by this author on: Oxford Academic Google Scholar L. Liu, Liu Viapath Thomas' Hospital U.K K. Fong, Fong Ozoemena, Ozoemena J.R. McMillan, McMillan A. Salam, Salam P. Campbell, Campbell...
Dystrophic epidermolysis bullosa (DEB) is a heritable blistering disorder that can be inherited autosomal dominantly (DDEB) or recessively (RDEB) and covers group of several distinctive phenotypes. A large number unique COL7A1 mutations have been shown to underlie DEB. Although general genotype–phenotype correlation rules emerged, many exceptions these exist, compromising disease diagnosing genetic counseling. We therefore constructed the International DEB Patient Registry...
BACKGROUNDRecessive dystrophic epidermolysis bullosa (RDEB) is a severe form of skin fragility disorder due to mutations in COL7A1 encoding basement membrane type VII collagen (C7), the main constituent anchoring fibrils (AFs) skin. We developed self-inactivating lentiviral platform codon-optimized cDNA under control human phosphoglycerate kinase promoter for phase I evaluation.METHODSIn this single-center, open-label trial, 4 adults with RDEB each received 3 intradermal injections (~1 × 106...
BackgroundRecessive dystrophic epidermolysis bullosa (RDEB) is a hereditary blistering disorder due to lack of type VII collagen. At present, treatment mainly supportive.ObjectivesTo determine whether intravenous allogeneic bone marrow–derived mesenchymal stromal/stem cells (BM-MSCs) are safe in RDEB adults and if the improve wound healing quality life.MethodsWe conducted prospective, phase I/II, open-label study recruiting 10 receive 2 infusions BM-MSCs (on day 0 14; each dose 2-4 × 106...
Recessive forms of congenital ichthyosis encompass a group rare inherited disorders keratinization leading to dry, scaly skin. So far, 13 genes have been implicated, but there is paucity data on genotype–phenotype correlation in some populations. We compiled an English cohort 146 individuals with recessive and assessed correlation. Deep phenotyping was undertaken by history‐taking clinical examination. DNA screened for mutations using next‐generation sequencing gene panel Sanger sequencing....