Zobrazeno 1 - 10 of 22 pro vyhledávání: '"Kiril Malovitski"'
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Akademický článek
Up-regulation of ST18 in pemphigus vulgaris drives a self-amplifying p53-dependent pathomechanism resulting in decreased desmoglein 3 expression
Autor: Sari Assaf, Dan Vodo, Kiril Malovitski, Janan Mohamad, Shir Bergson, Yarden Feller, Liron Malki, Ofer Sarig, Eli Sprecher
Publikováno v: Scientific Reports, Vol 12, Iss 1, Pp 1-9 (2022)
Abstract Pemphigus vulgaris (PV) is a life-threatening autoimmune mucocutaneous blistering disease which is to a large extent genetically determined, and results, at least in part, from the deleterious activity of autoantibodies directed against desm
Externí odkaz: https://doaj.org/article/0b2e83f484d04252bfd426701c1cb9cb
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2
A unique skin phenotype resulting from a large heterozygous deletion spanning six keratin genes
Autor: Janan Mohamad, Ofer Sarig, Paula Beattie, Kiril Malovitski, Sari Assaf, Edel O’Toole, Janice Schwartz, Holly Evans, Liat Samuelov, Eli Sprecher
Publikováno v: British Journal of Dermatology. 187:773-777
The phenotypic spectrum of genodermatoses is continuously expanding. Three siblings were referred because of a highly unusual phenotype comprising alopecia, dystrophic nails, palmoplantar keratoderma and trauma-induced skin blistering. Whole-exome se
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c9ee09676227ff338a7c81b95e30efc3
https://doi.org/10.1111/bjd.21766
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3
Defective cathepsin Z affects EGFR expression and causes autosomal dominant palmoplantar keratoderma
Autor: Kiril Malovitski, Ofer Sarig, Yarden Feller, Shir Bergson, Sari Assaf, Janan Mohamad, Mor Pavlovsky, Moshe Giladi, Eli Sprecher
Publikováno v: British Journal of Dermatology.
Background Abnormal function of the epidermal growth factor receptor (EGFR) has been recently shown to underlie various disorders of cornification. Objectives Here we aimed at delineating the genetic basis of a novel dominant form of palmoplantar ker
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1fbbea5d94a15ee36222418bd20be743
https://doi.org/10.1093/bjd/ljad167
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5
Loss-of-function variants in KLF4 underlie autosomal dominant palmoplantar keratoderma
Autor: Kiril Malovitski, Ofer Sarig, Sari Assaf, Janan Mohamad, Liron Malki, Shir Bergson, Alon Peled, Marina Eskin-Schwartz, Andrea Gat, Mor Pavlovsky, Eli Sprecher
Publikováno v: Genetics in Medicine. 24:1085-1095
Palmoplantar keratodermas (PPKs) form a group of disorders characterized by thickening of palm and sole skin. Over the past 2 decades, many types of inherited PPKs have been found to result from abnormal expression, processing, or function of adhesio
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0d5a0c380eb10804811b8a1a5520c75
https://doi.org/10.1016/j.gim.2022.01.009
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Plný text Recenzováno Digitální knihovna AV ČR
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