Associated Papers
A structural machine learning approach for rapid prediction of thermodynamically destabilizing tyrosine phosphorylations.
Woodard J et al.
Cell Reports Methods, 2025
Kinase Inhibition by PKC412 Prevents Epithelial Sheet Damage in Autosomal Dominant Epidermolysis Bullosa Simplex through Keratin and Cell Contact Stabilization.
Rietscher K et al.
The Journal of Investigative Dermatology, 2022
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation.
Wertheim-Tysarowska K et al.
Journal of Applied Genetics, 2016
The p.Glu477Lys Mutation in Keratin 5 Is Strongly Associated with Mortality in Generalized Severe Epidermolysis Bullosa Simplex.
Sathishkumar D et al.
The Journal of Investigative Dermatology, 2016
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations.
Rugg EL et al.
The Journal of Investigative Dermatology, 2007
Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.
Yasukawa K et al.
The British Journal of Dermatology, 2006
Three severe cases of EBS Dowling-Meara caused by missense and frameshift mutations in the keratin 14 gene.
Titeux M et al.
The Journal of Investigative Dermatology, 2006
Modeling effects of mutations in coiled-coil structures: case study using epidermolysis bullosa simplex mutations in segment 1a of K5/K14 intermediate filaments.
Smith TA et al.
Proteins, 2004
[Epidermolysis bullosa simplex: genotype-phenotype correlation in Danish patients].
Sørensen CB et al.
Ugeskrift for Laeger, 2000
Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling-Meara epidermolysis bullosa simplex.
Rugg EL et al.
European Journal of Human Genetics : Ejhg, 1999
Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.
Sørensen CB et al.
The Journal of Investigative Dermatology, 1999
Human keratin diseases: hereditary fragility of specific epithelial tissues.
Corden LD et al.
Experimental Dermatology, 1996
Genetic analysis of a severe case of Dowling-Meara epidermolysis bullosa simplex.
Chan YM et al.
The Journal of Investigative Dermatology, 1996