Associated Papers
Small fiber neuropathy in epidermolysis bullosa simplex.
Babakoohi S et al.
Jaad Case Reports, 2024
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
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa.
Unknown Author
Pediatric Dermatology, 2018
A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa.
Lucky AW et al.
Pediatric Dermatology, 2018
Type 1 segmental Galli-Galli disease resulting from a previously unreported keratin 5 mutation.
Arnold AW et al.
The Journal of Investigative Dermatology, 2012
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations.
Rugg EL et al.
The Journal of Investigative Dermatology, 2007
Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly.
Müller FB et al.
Human Mutation, 2006
Epidermolysis bullosa simplex: recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype/genotype correlations, and implications for genetic counseling and prenatal diagnosis.
Pfendner EG et al.
The Journal of Investigative Dermatology, 2005
Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.
Pfendner EG et al.
Prenatal Diagnosis, 2003
Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations.
Schuilenga-Hut PH et al.
Human Mutation, 2003
A keratin K5 mutation (Leu 463-->Pro) in a family with the Weber-Cockayne type of epidermolysis bullosa simplex.
Nomura K et al.
Archives of Dermatological Research, 1997
Human keratin diseases: hereditary fragility of specific epithelial tissues.
Corden LD et al.
Experimental Dermatology, 1996
The genetic basis of epidermolysis bullosa simplex with mottled pigmentation.
Uttam J et al.
Proceedings of the National Academy of Sciences of the United States of America, 1996
Temperature sensitivity of the keratin cytoskeleton and delayed spreading of keratinocyte lines derived from EBS patients.
Morley SM et al.
Journal of Cell Science, 1995
A common keratin 5 gene mutation in epidermolysis bullosa simplex--Weber-Cockayne.
Ehrlich P et al.
The Journal of Investigative Dermatology, 1995