Long noncoding RNAs

A genome-wide long noncoding RNA CRISPRi screen identifies PRANCR as a novel regulator of epidermal homeostasis

Genome Research  (2020)

We performed a CRISPR interference screen in primary human keratinocytes against 2,263 epidermal lncRNAs, identifying 9 novel functional lncRNAs. We assessed the phenotype and function of a new lncRNA, progenitor renewal associated long noncoding RNA (PRANCR).

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Epidermal differentiation

HOPX is a ZNF750 target that promotes late epidermal differentiation

Journal of Investigative Dermatology  (2019)

We investigated the role of the homeodomain-only protein (HOPX) on epidermal differentiation, finding that it is a downstream target of the ZNF750 transcription factor and is required for induction of barrier proteins such as loricrin and LCE3D.

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.