Topic · Genetics · Biochemistry, Genetics and Molecular Biology

Genetic and rare skin diseases.

OpenAlex topic; a paper is listed when OpenAlex scores it at least 0.5 for this topic.

3 papers

Insulin-Regulated Actin Dynamics is Disrupted in a Human Keratinocyte Model of Hailey Hailey Disease

Ruby Gupta, Akash Chinchole, Ngozi P. Paul, Mrinal K. Sarkar, Johann E. Gudjonsson, Ajay Verma, Rajini Rao

This study shows that SPCA1 deficiency in keratinocytes disrupts actin dynamics and insulin signaling, leading to impaired migration and wound healing, and identifies potential therapeutic strategies.

American Journal of Physiology-Cell Physiology · Aug 17, 2026Peer-reviewedCell Biology

Phloiokeratosis - a new ichthyosiform hyperkeratotic cornification disorder in dogs with SUV39H1 variants

Sarah Kiener, Stefan J. Rietmann, Sara Soto, Sara J. Ramos, Cherie M. Pucheu‐Haston, Chi‐Yen Wu, Desirae Wheatcraft, A Simpson, Susanne Åhman, Brett E. Wildermuth, Michaela Drögemüller, Vidhya Jagannathan, Charles W. Bradley, Elizabeth A. Mauldin, Nadine M. Meertens, , Tosso Leeb

This study identifies SUV39H1 variants in dogs with a new skin disorder, linking SUV39H1 deficiency to epidermal hyperkeratosis and highlighting its role in keratinocyte differentiation.

Scientific Reports · Jun 25, 2026Peer-reviewedGenetics

Transcriptional profiling of rare acantholytic disorders suggests common mechanisms of pathogenesis

Quinn R. Roth‐Carter, Hope E. Burks, Ziyou Ren, Jennifer Leigh Koetsier, Lam C. Tsoi, Paul W. Harms, Xianying Xing, Joseph Kirma, Robert M. Harmon, Lisa Marie Godsel, Abbey L. Perl, Johann Eli Gudjonsson, Kathleen Janee Green

This paper performs RNA-seq on skin samples from three acantholytic diseases to identify shared transcriptomic features and mechanisms of pathogenesis.

JCI Insight · Jul 20, 2023Peer-reviewedGenomics