نتایج جستجو برای: kindler
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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 ...
In finite combinatorics there are many proofs of the existence of certain combinatorial structures which do not provide us with any explicit example of such structures. To give an explicit construction is not only a mathematical challenge, but often it is the only way to determine the extremal structures for a particular question. One of such problems is to give an explicit construction of a tw...
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 ...
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...
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