Particular Mal de Meleda Phenotypes in Tunisia and Mutations Founder Effect in the Mediterranean Region
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چکیده
منابع مشابه
Particular Mal de Meleda Phenotypes in Tunisia and Mutations Founder Effect in the Mediterranean Region
Mal de Meleda (MDM) is a rare, autosomal recessive form of palmoplantar keratoderma. It is characterized by erythema and hyperkeratosis of the palms and soles that progressively extend to the dorsal surface of the hands and feet. It is caused by mutations in SLURP-1 gene encoding for secreted mammalian Ly-6/uPAR-related protein 1 (SLURP-1). We performed mutational analysis by direct sequencing ...
متن کامل[Meleda disease (Mal de Meleda): historical shifts in perception].
Nowadays, hereditary diseases are viewed through molecular mechanisms, and one of them, which keeps occurring rather frequently in medical publications, has been named after the Island of Mljet. The world first learned about mal de Meleda from a Dubrovnik physician Luka Stulli in 1826. He described it in a number of his island patients as a non-contagious hereditary skin disease, and named it m...
متن کاملMal de Meleda in a taiwanese.
Mal de Meleda (MDM) is a rare form of recessive transgressive palmoplantar erythrokeratoderma for which mutations in the ARS gene have been identified recently. The ARS gene encodes SLURP-1, a secreted epidermal neuromodulator involved in epidermal homeostasis and inhibition of tumor necrosis factor-alpha release. A 27-year-old Taiwanese woman who had a history of palmoplantar keratoderma since...
متن کاملMal de meleda - through history and today.
Meleda disease is an indigenous dermatological disease classified as a hereditary palmoplantar keratoderma. The disease was first described on the island of Mljet, Croatia, by Luko Stulli in 1826. We present a historical review of the literature data throughout the centuries till today. Recently, the gene responsible for the disease has been identified on chromosome 8qter within the cluster of ...
متن کاملMutations 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...
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ژورنال
عنوان ژورنال: BioMed Research International
سال: 2013
ISSN: 2314-6133,2314-6141
DOI: 10.1155/2013/206803