Journal of Investigative Dermatology, 1997 We report a novel mutation in a case of ichthyosis bullosa of Siemens that results in a threonine --> proline substitution in a novel location, codon 485 in a highly conserved residue position of the IATYRKLLEGE consensus motif at the end of the 2B rod domain segment of the keratin 2e chain.
Yang, Jun-Mo +5 more
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Mutation of keratin gene in skin diseases [PDF]
, 2017 Koža je najveći i najteži organ ljudskog organizma. Upravo ona čini granicu, barijeru, između organizma i okoliša čime se uviđa i njena primarna uloga, odnosno zaštita.
Gašparac, Tonka
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An Incompletely Penetrant Col7a1 Mutation Causes Dystrophic Epidermolysis Bullosa And Epidermolysis Bullosa Pruriginosa [PDF]
, 2012 Epidermolysis bullosa pruriginosa (EBP) is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by intense pruritus, nodular or lichenoid lesions, and violaceous linear scarring most prominent on the extensor extremities.
Yang, Catherine
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In vitro and in vivo analysis of differential gene expression between normal norfolk terrier dogs and those with an autosomal recessive mutation in KRT10 [PDF]
, 2005 Natural diseases caused by keratin mutations are rare and have only been reported in humans. We have recently identified a heritable skin disorder in Norfolk terriers caused by a mutation in KRT10.
Barnhart, Kirstin Faye
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Ichthyosen : Pathophysiologische Modelle der epidermalen Differenzierung [The ichthyoses : Pathophysiological models of epidermal differentiation]. [PDF]
, 2013 The ichthyoses are a heterogeneous group of monogenetically inherited disorders of cornification, and characterized clinically by scaling or hyperkeratosis. Historically, they were classified by clinical features and inheritance patterns.
Hohl, D., Huber, M.
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Ichthyosis bullosa of Siemens : a distinct type of epidermolytic hyperkeratosis [PDF]
, 1996 Contains fulltext : 24062___.PDF (Publisher’s version ) (Open Access)
Lenzner, U. +6 more
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Genetic analysis of genodermatoses [PDF]
The skin is the largest organ of the body. It provides a barrier that protects the body from harmful environmental factors as well as from a loss of fluids.
Bauer, Anina Estrella
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EMSY expression affects multiple components of the skin barrier with relevance to atopic dermatitis [PDF]
, 2019 Background: Atopic dermatitis (AD) is a common, complex, and highly heritable inflammatory skin disease. Genome-wide association studies offer opportunities to identify molecular targets for drug development.
Abbott, James C. +16 more
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Missense Variant c.3301C>T (p.R1101W) in von Willebrand Factor A Sequence in a Patient with Recessive Dystrophic Epidermolysis Bullosa Pruriginosa with Compound Heterozygous COL7A1 Variants. [PDF]
Ann Dermatol, 2023 Kwon HJ, Yoo DW, Yoon JH, Kim N, Kim KH.
europepmc +1 more source
Hiperqueratosis epidermolítica. Presentación de caso [PDF]
, 2016 Fundamento: La hiperqueratosis epidermolítica es una genodermatosis con patrón de herencia autosómico dominante, afecta a ambos sexos, es una enfermedad rara y se estima un caso cada 300 000 personas en las que predominan las ampollas al nacer y la ...
Alejandra González Torre +3 more
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