Associated Papers
Beneath the surface: delineating the subtypes of Dowling-Degos disease.
Kumar S et al.
The British Journal of Dermatology, 2025
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
Founder Variants in KRT5 and POGLUT1 Are Implicated in Dowling-Degos Disease.
Kumar S et al.
The Journal of Investigative Dermatology, 2024
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1
Structure, function, and pathology of protein O-glucosyltransferases.
Mehboob MZ et al.
Cell Death & Disease, 2021
Effects of Notch glycosylation on health and diseases.
Urata Y et al.
Development, Growth & Differentiation, 2020
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
Congenital diseases caused by defective O-glycosylation of Notch receptors.
Tashima Y et al.
Nagoya Journal of Medical Science, 2018
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
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