[PDF][PDF] In-frame exon skipping in KRT5 due to novel Intronic deletion causes epidermolysis bullosa simplex, generalized severe
KB Gostynska, J Bremer, KK Van Dijk-Bos… - Acta dermato …, 2017 - research.rug.nl
… helical initiation and termination domains H1, 1A and 2B (4, 5). … Ogden, Dundee, UK) directed
against keratin 5 of lesional skin … Staining was positive in the blister roof and floor. Staining …
against keratin 5 of lesional skin … Staining was positive in the blister roof and floor. Staining …
Epidermolysis bullosa simplex–generalized severe type due to keratin 5 p. Glu477Lys mutation: Genotype‐phenotype correlation and in silico modeling analysis
… common subtype and results in blistering within or above the … helix initiation peptide, HIP)
and 2B (helix termination peptide, … mutational “hot spots” in most hereditary keratin disorders.7 …
and 2B (helix termination peptide, … mutational “hot spots” in most hereditary keratin disorders.7 …
[HTML][HTML] A Novel Mutation p. L461P in KRT5 Causing Localized Epidermolysis Bullosa Simplex
X Jiang, Y Zhu, H Sun, F Gu - Annals of Dermatology, 2021 - ncbi.nlm.nih.gov
… a group of hereditary disorders, in which blisters occur … keratin 5 and keratin 14 have a
central rod-like alpha helix … initiation peptide (HIP) and helix termination peptide (HTP) 9 . …
central rod-like alpha helix … initiation peptide (HIP) and helix termination peptide (HTP) 9 . …
[PDF][PDF] Epidermolysis bullosa simplex-generalized severe due to p. Glu477Lys mutation in keratin 5: a genotype-phenotype correlation with in silico modeling analysis
… an inherited mechanobullous disease resulting in blistering … common subtype and results
in blistering within or above the … helix initiation peptide, HIP) and 2B (helix termination peptide, …
in blistering within or above the … helix initiation peptide, HIP) and 2B (helix termination peptide, …
[HTML][HTML] Keratins as an inflammation trigger point in epidermolysis bullosa simplex
NA Evtushenko, AK Beilin, AV Kosykh… - International Journal of …, 2021 - mdpi.com
… Mutations in keratins 5/14 or in other genes that encode … include skin fragility, with general
or localized blistering in … of the helix initiation and helix termination peptides and in the …
or localized blistering in … of the helix initiation and helix termination peptides and in the …
[PDF][PDF] A review of 52 pedigrees with epidermolysis bullosa simplex identifying ten novel mutations in KRT5 and KRT14 in Australia
EN Kim, AG Harris, LJ Bingham… - Acta Dermato …, 2017 - medicaljournalssweden.se
… mutations in the genes encoding keratin 5 and keratin 14 (… and mutations in these regions
often result in severe blistering, … initiation (HIP) and termination peptides (HTP) regions, …
often result in severe blistering, … initiation (HIP) and termination peptides (HTP) regions, …
Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility
… Other disorders with skin fragility, where blisters are a minor … acid within the keratin polypeptide
determines the severity of … or termination motifs impair heterodimerization of keratin 5 and …
determines the severity of … or termination motifs impair heterodimerization of keratin 5 and …
[HTML][HTML] A novel KRT5 mutation associated with generalized severe epidermolysis bullosa simplex in a 2‑year‑old Chinese boy
J Zhang, M Yan, J Liang, M Li… - Experimental and …, 2016 - spandidos-publications.com
… by mechanical stress-induced blistering of the skin (1). EBS … keratin 5 (KRT5) and 2B
domain of KRT14, also known as helix initiation peptide (HIP) and helix termination peptide …
domain of KRT14, also known as helix initiation peptide (HIP) and helix termination peptide …
Epidermal keratins
JA Rothnagel, DR Roop - Handbook of Mouse Mutations with Skin …, 2020 - taylorfrancis.com
… These linker peptides are denoted as LI, L I2, and L2 and … termination motif at the end of the
2B segment (Figure 5). … , thus preventing cell lysis and blister formation and other secondary …
2B segment (Figure 5). … , thus preventing cell lysis and blister formation and other secondary …
[HTML][HTML] Role of the keratin 1 and keratin 10 tails in the pathogenesis of ichthyosis hystrix of Curth Macklin
A Terrinoni, B Didona, S Caporali, G Chillemi… - PLoS …, 2018 - journals.plos.org
… Recently, a new clinical-genetic classification of the inherited … initiation peptide" (HIP) and
"helix termination peptide" (HTP)… Blisters were absent, a feature supported by the absence of …
"helix termination peptide" (HTP)… Blisters were absent, a feature supported by the absence of …