Heterozygous Mutations in AAGAB Cause Type 1 Punctate Palmoplantar Keratoderma with Evidence for Increased Growth Factor Signaling
نویسندگان
چکیده
ex vivo virus infection of LCs as well as subsequent virus transmission when different R5 HIV strains, HIVAD8 and HIVJR-FL, were utilized for an additional six subjects (n1⁄43 for each strain, Figures 1 and 2). These data demonstrate that oral administration of MVC for at least 3 days is capable of fully protecting HIV infection of LCs within epithelial tissue. These experiments provide perhaps the best proof-of-concept test for MVC as a potential PrEP drug, as it would be unethical to expose MVC-treated volunteers to HIV in vivo. As proven here, orally delivered MVC rapidly distributes to skin and functionally acts to block infection of relevant target cells, LCs, supporting randomized controlled trials of MVC as a PrEP therapy for individuals at high risk of becoming infected with HIV through sexual exposure.
منابع مشابه
Punctate palmoplantar keratoderma type 1: a novel AAGAB mutation and efficacy of etretinate.
Punctate palmoplantar keratoderma type 1 (PPKP1, OMIM#148600), also known as the Buschke-FischerBraurer type, is a rare form of palmoplantar keratoderma that is autosomal dominantly inherited (1). PPKP1 is clinically characterised by multiple punctate hyperkeratotic papules affecting the palmar and plantar skin, with considerable phenotypic variation among patients (2). These circumscribed papu...
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palmoplantar keratoderma in patients from PPK01. Note the typical clinical presentation of more punctate lesions on the palms and more confluent lesions on the soles, demonstrating increased hyperkeratinization from mechanical trauma. (B) The pedigree for Israeli family PPK01 with sequencing results indicated below the patients (+ indicates wild-type,-indicates mutation). White indicates unaffe...
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S . GOERDT , 2 J . UT I KA L , 2 , 3 M. LEV E RKU S 1 , 2 Department of Dermatology, Venereology and Allergology, University Medical Center, Theodor-Kutzer-Ufer 1-3, 68135 Mannheim, Germany Ruprecht-Karl-University of Heidelberg, Mannheim, Germany Skin Cancer Unit, German Cancer Research Center (DKFZ), Heidelberg, Germany Correspondence: Martin Leverkus. E-mail: [email protected]...
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© 2014 The Authors. doi: 10.2340/00015555-1724 Journal Compilation © 2014 Acta Dermato-Venereologica. ISSN 0001-5555 Punctate palmoplantar keratoderma (PPPK, OMIM 148600), also known as Buschke-Fischer-Brauer’s disease, is a rare autosomal dominant disorder. It is characterised by multiple tiny punctate keratoses on the surface of the palms and soles (1). The lesions usually start to develop in...
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Palmoplantar keratoderma of Sybert (PPK of Sybert) or Sybert’s keratoderma was first documented by Virginia Sybert in 1988. Due to the high degree of similarity, it was previously considered to be Greither’s keratoderma, an established entity at that time. Currently, clinical and ultrastructural studies distinguish between the two disorders. Sybert’s keratoderma is an extremely rare type of ker...
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عنوان ژورنال:
دوره 133 شماره
صفحات -
تاریخ انتشار 2013