نتایج جستجو برای: kindler syndrome
تعداد نتایج: 622010 فیلتر نتایج به سال:
Kindler syndrome (KS) is an autosomal recessive blistering skin disease resulting from pathogenic mutations in FERMT1. This gene encodes kindlin-1, a focal adhesion protein involved in activation of the integrin family of extracellular matrix receptors. Most cases of KS show a marked reduction or complete absence of the kindlin-1 protein in keratinocytes, resulting in defective cell adhesion an...
Spontaneous gene repair, also called revertant mosaicism, has been documented in several genetic disorders involving organs that undergo self-regeneration, including the skin. Genetic reversion may occur through different mechanisms, and in a single individual, the mutation can be repaired in various ways. Here we describe a disseminated pattern of revertant mosaicism observed in 6 patients wit...
I read with great interest the recent article by Sinha et al.1 Interestingly, one rare condition that often mimics dyskeratosis congenita, and that needs to be distinguished from it, is Kindler Syndrome (KS). KS primarily occurs secondary to "loss of function" mutations in the FERMT1 gene. Mode of inheritance is autosomal recessive. Interestingly, FERMT1 gene mutations are absent in 30% of case...
C. Nociforo 1,# , A. Prochazka 1,2 , R. Kanungo 3 , T. Aumann 1 , D. Boutin 2 , D. Cortina-Gil 4 , B. Davids 5 , M. Diakaki 6 , F. Farinon 1,2 , H. Geissel 1 , R. Gernhäuser 7 , R. Janik 8 , B. Jonson 9 , B. Kindler 1 , R.Knöbel 1,2 , R. Krücken 7 , N. Kurz 1 , M. Lantz 9 , H. Lenske 2 , Yu.A. Litvinov 1, , B. Lommel 1 , K.Mahata 1 , P. Maierbeck 7 , A. Musumarra 10,11 , T. Nilsson 9 , C. Perro...
We address cross-organizational workflows, such as document workflows, which consist of multiple workflow modules each of which can interact with others by sending and receiving messages. Our goal is to guarantee that the global workflow network has properties such as termination while merely requiring properties that can be checked locally in individual modules. The resulting query nets are ba...
Article Chronology:Received 28 March 2006Revised version received6 June 2006Accepted 13 June 2006Available online 29 June 2006The three Kindlins are a novel family of focal adhesion proteins. The Kindlin-1 (URP1) gene ismutated in Kindler syndrome, the first skin blistering disease affecting actin attachment inbasal keratinocytes. Kindlin-2 (Mig-2), the best stud...
Epidermolysis bullosa (EB) comprises a collection of clinically diverse inherited blistering diseases that affect the skin and, in some subtypes, mucous membranes and other organs. Currently classified into four main subtypes (EB simplex, junctional EB, dystrophic EB, and Kindler syndrome, mainly based on the level of skin cleavage), the spectrum of EB extends to more than 30 clinical subtypes ...
EB: epidermolysis bullosa HSV: herpes simplex virus INTRODUCTION Inherited epidermolysis bullosa (EB) are genodermatoses characterized by the formation of blisters after minor trauma. There are 4 major types of inherited EB: EB simplex, junctional EB, dystrophic EB, and Kindler syndrome. Classification is performed according to the mode of inheritance, the phenotype, the level of skin cleavage ...
M. Schädel, D. Ackermann, W. Brüchle, Ch.E. Düllmann, J. Dvorak, K. Eberhardt, J. Even, A. Gorshkov, R. Gräger, K.E. Gregorich, F.P. Heßberger, A. Hübner, E. Jäger, J. Khuyagbaatar, B. Kindler, J.V. Kratz, D. Liebe, B. Lommel, J.P. Omtvedt, K. Opel, A. Sabelnikov, F. Samadani, B. Schausten, R. Schuber, E. Schimpf, A. Semchenkov, J. Steiner, J. Szerypo, A. Türler, and A. Yakushev for the TASCA C...
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