Associated Papers
ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.
Enyedi EE et al.
Biomedicines, 2024
Hypothesis-free phenotype prediction within a genetics-first framework.
Lu C et al.
Nature Communications, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex.
Evtushenko NA et al.
International Journal of Molecular Sciences, 2021
Pathogenic nsSNPs that increase the risks of cancers among the Orang Asli and Malays.
Khoruddin NA et al.
Scientific Reports, 2021
Review of the Molecular Genetics of Basal Cell Carcinoma; Inherited Susceptibility, Somatic Mutations, and Targeted Therapeutics.
Kilgour JM et al.
Cancers, 2021
Severe epidermolysis bullosa simplex phenotype caused by codominant mutations p.Ile377Thr in keratin 14 and p.Gly138Glu in keratin 5.
Bchetnia M et al.
Experimental Dermatology, 2020
Genome-wide meta-analysis identifies eight new susceptibility loci for cutaneous squamous cell carcinoma.
Sarin KY et al.
Nature Communications, 2020
Epidermolysis bullosa simplex-generalized severe type due to keratin 5 p.Glu477Lys mutation: Genotype-phenotype correlation and in silico modeling analysis.
Lalor L et al.
Pediatric Dermatology, 2019
Vesicular variant of Dowling-Degos disease.
Linke M et al.
The British Journal of Dermatology, 2018
The New Immortalized Uroepithelial Cell Line HBLAK Contains Defined Genetic Aberrations Typical of Early Stage Urothelial Tumors.
Hoffmann MJ et al.
Bladder Cancer (amsterdam, Netherlands), 2016
Epidermolysis bullosa simplex: greater penetrance due to a keratin 5 gene variant.
Jantke M et al.
Clinical and Experimental Dermatology, 2014
Verrucous carcinoma in epidermolysis bullosa simplex is possibly associated with a novel mutation in the keratin 5 gene.
Schumann H et al.
The British Journal of Dermatology, 2012
A transient epidermolysis bullosa simplex-like phenotype associated with bexarotene treatment in a G138E KRT5 heterozygote.
Trufant JW et al.
Journal of Cutaneous Pathology, 2010
Recent progress in genetic variants associated with cancer and their implications in diagnostics development.
Cho WC
Expert Review of Molecular Diagnostics, 2010
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
Moderate- to low-risk variant alleles of cutaneous malignancies and nevi: lessons from genome-wide association studies.
Udayakumar D et al.
Genome Medicine, 2009
New common variants affecting susceptibility to basal cell carcinoma.
Stacey SN et al.
Nature Genetics, 2009
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
Epidermolysis bullosa simplex with mottled pigmentation - mutation analysis proved the diagnosis in a four-generation pedigree.
Glàsz-Bóna A et al.
European Journal of Dermatology : Ejd, 0