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Alopecia areata is driven by cytotoxic T lymphocytes and is reversed by JAK inhibition
It is shown that cytotoxic CD8+NKG2D+ T cells are both necessary and sufficient for the induction of AA in mouse models of disease, suggesting the potential clinical utility of JAK inhibition in human AA.
Genome-wide association study in alopecia areata implicates both innate and adaptive immunity
The genetic underpinnings of AA are defined, placing it within the context of shared pathways among autoimmune diseases, and implicating a novel disease mechanism, the upregulation of ULBP ligands, in triggering autoimmunity.
Desmoglein 4 in Hair Follicle Differentiation and Epidermal Adhesion Evidence from Inherited Hypotrichosis and Acquired Pemphigus Vulgaris
Generation of keratinocytes from normal and recessive dystrophic epidermolysis bullosa-induced pluripotent stem cells
- M. Itoh, M. Kiuru, M. Cairo, A. Christiano
- Biology, MedicineProceedings of the National Academy of Sciences
- 9 May 2011
The studies indicate that autologous iPSCs have the potential to provide a source of cells for regenerative therapies for specific skin diseases and are differentiated into keratinocytes with high efficiency, suggesting that they were fully functional.
APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex
It is shown that APCDD1 is a membrane-bound glycoprotein that is abundantly expressed in human hair follicles, and can interact in vitro with WNT3A and LRP5—two essential components of Wnt signalling.
Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization.
The molecular basis of MD-EBS in this family is established and the important structural role for plectin in cytoskeleton-membrane adherence in both skin and muscle is clearly demonstrated.
Disruption of P2RY5, an orphan G protein–coupled receptor, underlies autosomal recessive woolly hair
It is indicated that disruption of P2RY5 underlies ARWH and, more broadly, a new gene involved in determining hair texture in humans is uncovered.
P-cadherin is a p63 target gene with a crucial role in the developing human limb bud and hair follicle
P-cadherin is a newly defined transcriptional target gene of p63, with a crucial role in hair follicle morphogenesis as well as the AER during limb bud outgrowth in humans, whereas it is not required for either in mice.
Integrin β4 mutations associated with junctional epidermolysis bullosa with pyloric atresia
The results implicate mutations in the β4 integrin gene in some forms of PA–JEB, which is a rare inherited disorder characterized by pyloric stenosis and blistering of the skin as primary manifestations.
Mutations in the 180–kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa
The first mutations in the gene encoding the 180-kD bullous pemphigoid antigen (BPAG2) are described, a transmembranous hemidesmosomal collagen, also known as type XVII collagen (COL17A1)8, a rare variant of JEB, and isacompound heterozygote for premature termination codons on both alleles are described.