Steroid resistance

Why do steroids fail to suppress inflammation in some autoimmune diseases? We identify steroid responsive genome elements proximal to the chemokine CCL20.

British Journal of Dermatology

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Epidermal differentiation

We identify a key role for a calmodulin-like protein in regulation of terminal epidermal differentiation.

Genes and Development

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Long noncoding RNAs

We performed a genome-wide CRISPR interference screen in human epidermal keratinocytes to identify a novel long noncoding RNA, PRANCR, that regulates epidermal tissue homeostasis.

Genome Research

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Genome editing in skin

In our review, we highlight advances in wound healing and gene correction therapies in human skin.

Science 

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Becker's nevus

Postzygotic Mutations in Beta-Actin Are Associated with Becker's Nevus and Becker's Nevus Syndrome

Journal of Investigative Dermatology  (2017)

Becker's nevus is a common hamartoma affecting 1 in 200 males, and involves overgrowth of epidermis, hair, and smooth muscle. Using exome sequencing, we found novel mutations in the ACTB gene that underlie this condition.

Calmodulin-like proteins

CALML5 is a ZNF750- and TINCR-induced protein that binds stratifin to regulate epidermal differentiation

Genes and Development  (2015)

Using RNA-sequencing of laser captured human epidermis we find that CALML5 is the most highly upregulated gene in differentiation. Using genetic, genomic, and proteomic approaches we describe how a calmodulin-like protein controls terminal skin differentiation.

Wound healing & skin grafting

Advances in skin grafting and treatment of cutaneous wounds

Science  (2014)

In this review, we discuss the advances in our understanding of cutaneous wound healing and the potential of genome engineering in cell-based therapies and skin transplantation.

Genetics of nevus sebaceus

Mosaic activating RAS mutations in nevus sebaceus and nevus sebaceus syndrome

Journal of Investigative Dermatology  (2013)

Using whole exome sequencing, we identify activating oncogenic HRAS and KRAS mutations in nevus sebaceus, establishing this condition as a mosaic RASopathy.