Associated Papers
Epidermolytic ichthyosis: Clinical spectrum and burden of disease in a large German cohort.
Frommherz L et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2025
Genetic testing and new variants in diagnosis of congenital ichthyoses.
Salo M et al.
Molecular Genetics & Genomic Medicine, 2024
Altered skin microbiome, inflammation, and JAK/STAT signaling in Southeast Asian ichthyosis patients.
Ho M et al.
Human Genomics, 2024
Clinical and genetic findings in 13 Chinese children with keratinopathic ichthyosis.
Yang Z et al.
Pediatric Investigation, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1
Epidermolytic ichthyosis complicated by staphylococcal scalded skin syndrome in the newborn.
Peck GM et al.
Dermatology Online Journal, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _B__Y2H-SI_disMut_edgotypes
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
36303776 (PubMed )
Supplement: Table2.XLSX › _B__Y2H-SI_pathMt_edgotype
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut
Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma.
Smith FJD et al.
Clinical and Experimental Dermatology, 2019
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › dbSNP
A case of bullous congenital ichthyosiform erythroderma (BCIE) caused by a mutation in the 1A helix initiation motif of keratin 1.
Uezato H et al.
The Journal of Dermatology, 2005
Identification of a de novo keratin 1 mutation in epidermolytic hyperkeratosis with palmoplantar involvement.
Math A et al.
European Journal of Dermatology : Ejd, 0
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