Pavan, William J.

A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway

Praetorius, C., Grill, C., Stacey, S. N., Metcalf, A. M., Gorkin, D. U., Robinson, K. C., Van Otterloo, E., Kim, R. S. Q., Bergsteinsdottir, K., Ogmundsdottir, M. H., et al. (2013) · Cell

melanin and skin pigmentationMelanoma and MAPK Pathways

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A curated gene list for expanding the horizons of pigmentation biology

Baxter, L. L., Watkins‐Chow, D. E., Pavan, W. J., & Loftus, S. K. (2019) · Pigment Cell & Melanoma Research

melanin and skin pigmentationBioinformatics and Genomic Networks

Cited by 136

Collaborative Development of 2-Hydroxypropyl-β-Cyclodextrin for the Treatment of Niemann-Pick Type C1 Disease

Ottinger, E., Kao, M., Carrillo-Carrasco, N., Yanjanin, N., Shankar, R., Janssen, M., Brewster, M., Scott, I., Xu, X., Cradock, J., et al. (2014) · Current Topics in Medicinal Chemistry

Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and Myoclonus

Cited by 121

TFAP2 paralogs regulate melanocyte differentiation in parallel with MITF

Seberg, H. E., Van Otterloo, E., Loftus, S. K., Liu, H., Bonde, G., Sompallae, R., Gildea, D. E., Santana, J. F., Manak, J. R., Pavan, W. J., et al. (2017) · PLOS Genetics

melanin and skin pigmentationMelanoma and MAPK Pathways

Cited by 85

A sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathy

Matera, I., Watkins-Chow, D. E., Loftus, S. K., Hou, L., Incao, A., Silver, D. L., Rivas, C., Elliott, E. C., Baxter, L. L., & Pavan, W. J. (2008) · Human Molecular Genetics

melanin and skin pigmentationHedgehog Signaling Pathway Studies

Cited by 60

Transcriptomic profiling of tissue environments critical for post-embryonic patterning and morphogenesis of zebrafish skin

Aman, A. J., Saunders, L. M., Carr, A. A., Srivatasan, S., Eberhard, C., Carrington, B., Watkins-Chow, D., Pavan, W. J., Trapnell, C., & Parichy, D. M. (2023) · eLife

Developmental Biology and Gene RegulationZebrafish Biomedical Research Applications

Cited by 30

A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus

Loftus, S. K., Lundh, L., Watkins‐Chow, D. E., Baxter, L. L., Pairo‐Castineira, E., Program, N. C. S., Jackson, I. J., Oetting, W. S., Pavan, W. J., & Adams, D. R. (2021) · Human Mutation

melanin and skin pigmentationGenomics and Rare Diseases

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