Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma
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چکیده
منابع مشابه
New and recurrent AAGAB mutations in punctate palmoplantar keratoderma
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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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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Desmosomes are highly organized intercellular adhesive junctions that are particularly prominent in epidermis and other tissues experiencing mechanical stress. Desmoplakin, a constitutive component of the desmosomal plaque, is the most abundant protein present in such junctions and plays a critical role in linking the intermediate filament network to the plasma membrane in these tissues. Here w...
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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...
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ژورنال
عنوان ژورنال: Nature Genetics
سال: 2012
ISSN: 1061-4036,1546-1718
DOI: 10.1038/ng.2444