Associated Papers
The Spectrum of Epidermolysis Bullosa in KwaZulu-Natal, South Africa.
Chateau A et al.
International Journal of Dermatology, 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
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
15 years of PhosphoSitePlus®: integrating post-translationally modified sites, disease variants and isoforms.
Hornbeck PV et al.
Nucleic Acids Research, 2019
In silico predicted structural and functional insights of all missense mutations on 2B domain of K1/K10 causing genodermatoses.
Banerjee S et al.
Oncotarget, 2016
Ten years of DNA diagnostics of epidermolysis bullosa in the Czech Republic.
Kopečková L et al.
The British Journal of Dermatology, 2016
Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis.
Arin MJ et al.
The British Journal of Dermatology, 2011
Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure.
Jerábková B et al.
The British Journal of Dermatology, 2010
The ubiquitin ligase CHIP/STUB1 targets mutant keratins for degradation.
Löffek S et al.
Human Mutation, 2010
Novel and recurrent mutations in Keratin 5 and 14 in Korean patients with Epidermolysis bullosa simplex.
Kang TW et al.
Journal of Dermatological Science, 2010
Dyskeratosis as a histologic feature in epidermolysis bullosa simplex-Dowling Meara.
Bergman R et al.
Journal of the American Academy of Dermatology, 2007
A mutation in exon 1 of keratin 14 resulting in a Chinese family with epidermolysis bullosa simplex Dowling-Meara.
Li XL et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2007
Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.
Yasukawa K et al.
The British Journal of Dermatology, 2006
A novel nonsense mutation at E106 of the 2B rod domain of keratin 14 causes dominant epidermolysis bullosa simplex.
Gu LH et al.
The Journal of Dermatology, 2002
DNA based prenatal testing for the skin blistering disorder epidermolysis bullosa simplex.
Rugg EL et al.
Prenatal Diagnosis, 2000
Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot mutation analysis.
Hut PH et al.
The Journal of Investigative Dermatology, 2000