Associated Papers
Genetic and Phenotypic Features of 2 Northern Italy Families with Dowling-Degos Disease Type 4.
Tomasini D et al.
Jid Innovations : Skin Science From Molecules to Population Health, 2025
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
EBS in Children with De Novo Pathogenic Variants Disturbing Krt14.
Kosykh AV et al.
International Journal of Molecular Sciences, 2024
Founder Variants in KRT5 and POGLUT1 Are Implicated in Dowling-Degos Disease.
Kumar S et al.
The Journal of Investigative Dermatology, 2024
Secretory expression of mammalian NOTCH tandem epidermal growth factor-like repeats based on increased O-glycosylation.
Zhang A et al.
Analytical Biochemistry, 2022
Structure, function, and pathology of protein O-glucosyltransferases.
Mehboob MZ et al.
Cell Death & Disease, 2021
Analysis of hidradenitis suppurativa-linked mutations in four genes and the effects of PSEN1-P242LfsX11 on cytokine and chemokine expression in macrophages.
Li A et al.
Human Molecular Genetics, 2019
Altered Notch Signaling in Dowling-Degos Disease: Additional Mutations in POGLUT1 and Further Insights into Disease Pathogenesis.
Ralser DJ et al.
The Journal of Investigative Dermatology, 2019
Significance of glycosylation in Notch signaling.
Takeuchi H et al.
Biochemical and Biophysical Research Communications, 2014
Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.
Basmanav FB et al.
American Journal of Human Genetics, 2014
Select a paper to view details