A5027115657- Skin and Cellular Biology Research
- Genital Health and Disease
- Dermatological and Skeletal Disorders
- Autoimmune Bullous Skin Diseases
- Cellular Mechanics and Interactions
- Wnt/β-catenin signaling in development and cancer
- Cutaneous lymphoproliferative disorders research
- Hedgehog Signaling Pathway Studies
- Cell Adhesion Molecules Research
- Hair Growth and Disorders
- Dermatologic Treatments and Research
- Urological Disorders and Treatments
- Nail Diseases and Treatments
- Dupuytren's Contracture and Treatments
- Eosinophilic Disorders and Syndromes
- Cancer-related Molecular Pathways
- Genetic and rare skin diseases.
- Connective tissue disorders research
- Polyamine Metabolism and Applications
- Cancer and Skin Lesions
- Kruppel-like factors research
- Urologic and reproductive health conditions
- Immunodeficiency and Autoimmune Disorders
- Nuclear Structure and Function
- Nasolacrimal Duct Obstruction Treatments
Institute of Dermatology
2006-2023
Ministry of Public Health
1998-2023
King's College London
2003-2020
Rajavithi Hospital
2010-2020
St Thomas' Hospital
2000-2007
MRC Laboratory of Molecular Biology
2007
King's College School
2006-2007
St John's Hospital
2007
King's College Hospital
2000-2006
The King's College
2004-2005
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...
Abstract Background/Objectives Male androgenetic alopecia ( AGA ) is a common hair problem. S erenoa repens extract has been shown to inhibit both types of 5‐α reductase and, when taken orally, increase growth in patients. The aim this study was assess the efficacy topical products containing S. for treatment male . Methods This pilot, prospective, open, within‐subject comparison limited 24 weeks using no placebo controls. In all, 50 volunteers aged between 20 and years received weeks....
Mutations in the p63 gene have recently been delineated as molecular basis for some cases of ectrodactyly, ectodermal dysplasia and cleft lip/palate (EEC) syndrome, an autosomal dominant disorder (MIM 129900). In this report, we describe a 35-year-old woman with EEC syndrome document heterozygous germline missense mutation, R304W, exon 8 gene. As most other mutations mutation has arisen de novo is located within core DNA-binding domain p63. Identification implications genetic counselling...
Herlitz junctional epidermolysis bullosa (JEB) is an autosomal recessive mechanobullous disorder that results from loss-of-function mutations in the genes encoding basement membrane component, laminin 5. Typically, there are frameshift, splice site or nonsense on both alleles of either LAMA3, LAMB3 LAMC2 genes, with affected individuals inheriting one mutated allele each parent. In this report, we describe a patient JEB whom DNA analysis revealed homozygosity for recurrent mutation R635X...
Transient bullous dermolysis of the newborn (TBDN) is a rare form dystrophic epidermolysis bullosa (DEB) that presents with neonatal skin blistering but which usually improves markedly during early life or even remits completely. Skin biopsies reveal abnormal intraepidermal accumulation type VII collagen results in poorly constructed anchoring fibrils and sublamina densa plane blister formation. The reason for spontaneous clinical improvement not known, there gradual recovery secretion from...
Journal Article EEC (Ectrodactyly, Ectodermal dysplasia, Clefting) syndrome: heterozygous mutation in the p63 gene (R279H) and DNA‐based prenatal diagnosis Get access A.P. South, South Department of Cell Molecular Pathology, St John's Institute Dermatology, The Guy's, King's College Thomas' Hospitals' Medical School, Hospital, Lambeth Palace Road, London SE1 7EH, U.K Search for other works by this author on: Oxford Academic Google Scholar G.H.S. Ashton, Ashton C. Willoughby, Willoughby...
AbstractSeveral case reports of autochthonous leishmaniasis in Thailand have been published since 1996. Most the previous cases presented with visceral (VL) and were mostly reported southern part Thailand. Recently, it has evident that Leishmania martiniquensis is main cause infection However, siamensis (PCM2 Trang isolate) was found to be a separate lineage restricted distribution also disseminated dermal one case. Here we report first patient from central human immunodeficiency virus...
Journal Article Functional redundancy of extracellular matrix protein 1 in epidermal differentiation Get access S. Sercu, Sercu Laboratory Molecular Biotechnology, Department Biomedical Sciences, University Antwerp, Universiteitsplein 1, 2610 Wilrijk/Antwerp, Belgium *Cell and Tissue Laboratory, URPHYM, Namur, †Laboratory Biology (Celgen), for Developmental Genetics, VIB, Leuven, ‡Laboratory Center Human K.U. §Genetic Skin Disease Group, St John’s Institute Dermatology, Division Genetics...