December 2021 in “Folia veterinaria” This review provides an overview of identified gene variants responsible for congenital skin diseases in dogs and highlights the role of genetic testing in veterinary diagnostics and breeding.
December 2021 in “Molecular genetics and genomics” This study found that two unrelated domestic shorthair cats had novel DSG4 gene mutations causing defective hair shafts, representing the first report of pathogenic DSG4 variants in domestic animals.
January 2023 in “Indian dermatology online journal” This case report describes a novel NECTIN4 gene mutation linked to ED-syndactyly syndrome 1 in a young girl, contributing to the understanding of this rare ectodermal dysplasia.
42 citations
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July 2007 in “Journal of Biological Chemistry” This study found that most pathogenic HR mutants associated with atrichia with papular lesions had abolished corepressor activity due to defective interactions with histone deacetylases.
31 citations
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July 2004 in “Molecular Medicine” This study found that mutant glucocorticoid receptors have defective transcriptional activity and dynamic motility issues in the nucleus, likely due to impaired interactions with nuclear molecules necessary for gene activation.
