Novel Mutations in the Gene Encoding Secreted Lymphocyte Antigen-6/Urokinase-type Plasminogen Activator Receptor-related Protein-1 (SLURP-1) and Description of Five Ancestral Haplotypes in Patients with Mal de Meleda
نویسندگان
چکیده
منابع مشابه
Mutations in the gene encoding SLURP-1 in Mal de Meleda.
Mal de Meleda (MDM) is a rare autosomal recessive skin disorder, characterized by transgressive palmoplantar keratoderma (PPK), keratotic skin lesions, perioral erythema, brachydactyly and nail abnormalities. We report the refinement of our previously described interval of MDM on chromosome 8qter, and the identification of mutations in affected individuals in the ARS (component B) gene, encodin...
متن کاملA Sporadic Case of Mal de Meleda Caused by Gene Mutation in SLURP-1 in Korea
Mal de Meleda (MDM), also known as keratoderma palmoplantaris transgrediens, is a rare inherited form of palmoplantar keratoderma. It is characterized by erythema and hyperkeratosis of the palms and soles, extending to the dorsal aspects of the hands and feet. A 15-year-old Korean female presented with sharply demarcated hyperkeratotic plaques on the palms and soles, which extended to the dorsa...
متن کاملIdentification of SLURP-1 as an epidermal neuromodulator explains the clinical phenotype of Mal de Meleda.
Mal de Meleda is an autosomal recessive inflammatory and keratotic palmoplantar skin disorder due to mutations in the ARS B gene, encoding for SLURP-1 (secreted mammalian Ly-6/uPAR-related protein 1). SLURP-1 belongs to the Ly-6/uPAR superfamily of receptor and secreted proteins, which participate in signal transduction, immune cell activation or cellular adhesion. The high degree of structural...
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Background: Plasminogen activator inhibitor-1 (PAI-1) is a glycoprotein with inhibitory effects on the formation of plasmin from plasminogen by plasminogen activator. Thus, it prevents clot lysis in vessel walls. Several evidences prove the relationship between coronary artery disease and response to fibrinolytic therapy in patients with myocardial infarction with PAI-1 level. Opium addiction i...
متن کاملA recurrent mutation in the ARS (component B) gene encoding SLURP-1 in Turkish families with mal de Meleda: evidence of a founder effect.
Mal de Meleda is a rare form of palmoplantar keratoderma, and recently mutations in the ARS (component) B gene have been identified in families with this disease. We identified a recurrent nonsense mutation, R96X, in four families of Turkish descent. In this report, we demonstrate that these families share a common ancestral haplotype at the mal de Meleda locus, suggesting a founder effect.
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2003
ISSN: 0022-202X
DOI: 10.1046/j.1523-1747.2003.12062.x