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Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa.
Desmoglein 4 in Hair Follicle Differentiation and Epidermal Adhesion Evidence from Inherited Hypotrichosis and Acquired Pemphigus Vulgaris
Cell adhesion and communication are interdependent aspects of cell behavior that are critical for morphogenesis and tissue architecture. In the skin, epidermal adhesion is mediated in part by… Expand
APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex
Hereditary hypotrichosis simplex is a rare autosomal dominant form of hair loss characterized by hair follicle miniaturization. Using genetic linkage analysis, we mapped a new locus for the disease… Expand
Genome-wide association study in alopecia areata implicates both innate and adaptive immunity
Alopecia areata (AA) is among the most highly prevalent human autoimmune diseases, leading to disfiguring hair loss due to the collapse of immune privilege of the hair follicle and subsequent… Expand
Generation of keratinocytes from normal and recessive dystrophic epidermolysis bullosa-induced pluripotent stem cells
- M. Itoh, M. Kiuru, M. Cairo, A. Christiano
- Medicine, Biology
- Proceedings of the National Academy of Sciences
- 9 May 2011
Embryonic stem cells (ESCs) have an unlimited proliferative capacity and extensive differentiation capability. They are an alternative source for regenerative therapies with a potential role in the… Expand
Disruption of P2RY5, an orphan G protein–coupled receptor, underlies autosomal recessive woolly hair
The genetic determinants of hair texture in humans are largely unknown. Several human syndromes exist in which woolly hair comprises a part of the phenotype; however, simple autosomal recessive… Expand
Integrin β4 mutations associated with junctional epidermolysis bullosa with pyloric atresia
Pyloric atresia associated with junctional epidermolysis bullosa (PA–JEB), is a rare inherited disorder characterized by pyloric stenosis and blistering of the skin as primary manifestations. We… Expand
P-cadherin is a p63 target gene with a crucial role in the developing human limb bud and hair follicle
P-cadherin is a member of the classical cadherin family that forms the transmembrane core of adherens junctions. Recently, mutations in the P-cadherin gene (CDH3) have been shown to cause two… Expand
Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization.
Plectin is a widely expressed high molecular weight protein that is involved in cytoskeleton-membrane attachment in epithelial cells, muscle, and other tissues. The human autosomal recessive disorder… Expand
Mutations in the 180–kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa
Junctional epidermolysis bullosa (JEB) is a heterogeneous autosomal recessively inherited blistering skin disorder associated with fragility at the dermal-epidermal junction1. Characteristic… Expand