[PDF][PDF] Epidermolysis bullosa simplex-generalized severe due to p. Glu477Lys mutation in keratin 5: a genotype-phenotype correlation with in silico modeling analysis
Background/Objectives: Epidermolysis bullosa is a group of diseases caused by mutations
in skin structural proteins. Availability of genetic sequencing makes identification of …
in skin structural proteins. Availability of genetic sequencing makes identification of …
Epidermolysis bullosa simplex–generalized severe type due to keratin 5 p. Glu477Lys mutation: Genotype‐phenotype correlation and in silico modeling analysis
Abstract Background/Objectives Epidermolysis bullosa is a group of diseases caused by
mutations in skin structural proteins. Availability of genetic sequencing makes identification …
mutations in skin structural proteins. Availability of genetic sequencing makes identification …
In silico analysis of all point mutations on the 2B domain of K5/K14 causing epidermolysis bullosa simplex: a genotype–phenotype correlation
S Banerjee, Q Wu, P Yu, M Qi, C Li - Molecular Biosystems, 2014 - pubs.rsc.org
Epidermolysis bullosa simplex (EBS) is a genodermatosis caused by mutations in keratins 5
and 14 (K5 and K14), which leads to fragility of basal keratinocytes and eventually …
and 14 (K5 and K14), which leads to fragility of basal keratinocytes and eventually …
A novel nonsense mutation at E106 of the 2B rod domain of keratin 14 causes dominant epidermolysis bullosa simplex
LH Gu, Y Ichiki, M Sato… - The Journal of dermatology, 2002 - Wiley Online Library
Epidermolysis bullosa simplex (EBS) is classified into three main types and is caused, in
most cases, by missense mutations in the genes encoding keratin (K) 5 and K14. In this …
most cases, by missense mutations in the genes encoding keratin (K) 5 and K14. In this …
Novel keratin 5 mutations in epidermolysis bullosa simplex: cases with unusual genotype–phenotype correlation
SW Oh, JS Lee, MY Kim, SC Kim - Journal of dermatological science, 2007 - jdsjournal.com
Epidermolysis bullosa simplex (EBS) is a group of hereditary skin diseases characterized by
blistering from mild trauma as a result of basal epidermal cells cytolysis. EBS is commonly …
blistering from mild trauma as a result of basal epidermal cells cytolysis. EBS is commonly …
Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure
B Jeřábková, J Marek, H Bučková… - British Journal of …, 2010 - academic.oup.com
Background Epidermolysis bullosa simplex (EBS) is an inherited skin disorder caused by
mutations in the keratin 5 (KRT5) and keratin 14 (KRT14) genes, with fragility of basal …
mutations in the keratin 5 (KRT5) and keratin 14 (KRT14) genes, with fragility of basal …
[PDF][PDF] Mutation detection of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex; identification of novel mutations
PHL Schuilenga-Hut, P vd Vlies, MF Jonkman… - MUTATION DETECTION … - academia.edu
Epidermolysis bullosa simplex is a group of blistering skin disorders caused by defects in
one of the keratin genes, KRT5 and KRT14. Previously reported KRT5 and KRT14 mutations …
one of the keratin genes, KRT5 and KRT14. Previously reported KRT5 and KRT14 mutations …
[PDF][PDF] Exempting homologous pseudogene sequences from PCR amplification allows genomic keratin 14 hotspot mutation analysis
PHL Hut, P Vlies, MF Jonkman, E Verlind… - J. Invest …, 2000 - academia.edu
In patients with the major forms of epidermolysis bullosa simplex (EBS), either of the keratin
genes KRT5 or KRT14 is mutated. This causes a disturbance of the filament network …
genes KRT5 or KRT14 is mutated. This causes a disturbance of the filament network …
[HTML][HTML] The yin and the yang of keratin amino acid substitutions and epidermolysis bullosa simplex
Mutations that change the same amino acid can result in different clinical phenotypes.
Through in silico modeling and keratin filament assessment of genetically engineered …
Through in silico modeling and keratin filament assessment of genetically engineered …
Expression signature of epidermolysis bullosa simplex
M Bchetnia, ML Tremblay, G Leclerc, A Dupérée… - Human genetics, 2012 - Springer
Epidermolysis bullosa simplex (EBS) is a skin disorder resulting from a weakened
cytoskeleton of the proliferative compartment of the epidermis, leading to cell fragility and …
cytoskeleton of the proliferative compartment of the epidermis, leading to cell fragility and …