Widespread reversion of genetic disease is rare; however, such events are particularly evident in some skin disorders in which normal clones develop on a background of affected skin. We previously demonstrated that mutations in keratin 10 (
Keith A. Choate, Yin Lu, Jing Zhou, Peter M. Elias, Samir Zaidi, Amy S. Paller, Anita Farhi, Carol Nelson-Williams, Debra Crumrine, Leonard M. Milstone, Richard P. Lifton
Title and authors | Publication | Year |
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Chromosomal inversions as a hidden disease-modifying factor for somatic recombination phenotypes
TOSHIFUMI NOMURA, Shotaro Suzuki, TOSHINARI MIYAUCHI, MASAE TAKEDA, Satoru Shinkuma, Yasuyuki Fujita, Wataru Nishie, Masashi Akiyama, Hiroshi Shimizu |
JCI Insight | 2018 |
A "late-but-fitter revertant cell" explains the high frequency of revertant mosaicism in epidermolysis bullosa
PC van den Akker, AM Pasmooij, H Joenje, RM Hofstra, GJ te Meerman, MF Jonkman, FX Real |
PloS one | 2018 |
Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines
EA Mauldin, D Crumrine, ML Casal, S Jeong, L Opálka, K Vavrova, Y Uchida, K Park, B Craiglow, KA Choate, KO Shin, YM Lee, GL Grove, JS Wakefield, D Khnykin, PM Elias |
The American Journal of Pathology | 2018 |
Four-dimensional, dynamic mosaicism is a hallmark of normal human skin that permits mapping of the organization and patterning of human epidermis during terminal differentiation
Y Wang, T Masaki, SG Khan, D Tamura, C Kuschal, M Rogers, JJ DiGiovanna, KH Kraemer, A Palsson |
PloS one | 2018 |