{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["11(4)"],"submitter":["Backel KA"],"pubmed_abstract":["A single male Rottweiler dog with severe footpad hyperkeratosis starting at an age of eight weeks was investigated. The hyperkeratosis was initially restricted to the footpads. The footpad lesions caused severe discomfort to the dog and had to be trimmed under anesthesia every 8-10 weeks. Histologically, the epidermis showed papillated villous projections of dense keratin in the stratum corneum. Starting at eight months of age, the patient additionally developed signs consistent with atopic dermatitis and recurrent bacterial skin and ear infections. Crusted hyperkeratotic plaques developed at sites of infection. We sequenced the genome of the affected dog and compared the data to 655 control genomes. A search for variants in 32 candidate genes associated with human palmoplantar keratoderma"],"journal":["Genes"],"pagination":["E469"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7230267"],"repository":["biostudies-literature"],"pubmed_title":["A <i>DSG1</i> Frameshift Variant in a Rottweiler Dog with Footpad Hyperkeratosis."],"pmcid":["PMC7230267"],"pubmed_authors":["Mauldin EA","Jagannathan V","Leeb T","Kiener S","Backel KA","Casal ML"],"additional_accession":[]},"is_claimable":false,"name":"A <i>DSG1</i> Frameshift Variant in a Rottweiler Dog with Footpad Hyperkeratosis.","description":"A single male Rottweiler dog with severe footpad hyperkeratosis starting at an age of eight weeks was investigated. The hyperkeratosis was initially restricted to the footpads. The footpad lesions caused severe discomfort to the dog and had to be trimmed under anesthesia every 8-10 weeks. Histologically, the epidermis showed papillated villous projections of dense keratin in the stratum corneum. Starting at eight months of age, the patient additionally developed signs consistent with atopic dermatitis and recurrent bacterial skin and ear infections. Crusted hyperkeratotic plaques developed at sites of infection. We sequenced the genome of the affected dog and compared the data to 655 control genomes. A search for variants in 32 candidate genes associated with human palmoplantar keratoderma","dates":{"release":"2020-01-01T00:00:00Z","publication":"2020 Apr","modification":"2026-04-08T00:54:49.655Z","creation":"2020-06-01T07:04:59Z"},"accession":"S-EPMC7230267","cross_references":{"pubmed":["32344723"],"doi":["10.3390/genes11040469"]}}