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Skint-1 is a highly specific, unique selecting component for epidermal T cells.
Barbee SD, Woodward MJ, Turchinovich G, Mention JJ, Lewis JM, Boyden LM, Lifton RP, Tigelaar R, Hayday AC. Barbee SD, et al. Among authors: lifton rp. Proc Natl Acad Sci U S A. 2011 Feb 22;108(8):3330-5. doi: 10.1073/pnas.1010890108. Epub 2011 Feb 7. Proc Natl Acad Sci U S A. 2011. PMID: 21300860 Free PMC article.
Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis.
Boyden LM, Zhou J, Hu R, Zaki T, Loring E, Scott J, Traupe H, Paller AS, Lifton RP, Choate KA. Boyden LM, et al. Among authors: lifton rp. Am J Hum Genet. 2020 Jul 2;107(1):158-163. doi: 10.1016/j.ajhg.2020.05.013. Epub 2020 Jun 8. Am J Hum Genet. 2020. PMID: 32516568 Free PMC article.
Whole-exome sequencing reveals somatic mutations in HRAS and KRAS, which cause nevus sebaceus.
Levinsohn JL, Tian LC, Boyden LM, McNiff JM, Narayan D, Loring ES, Yun D, Sugarman JL, Overton JD, Mane SM, Lifton RP, Paller AS, Wagner AM, Antaya RJ, Choate KA. Levinsohn JL, et al. Among authors: lifton rp. J Invest Dermatol. 2013 Mar;133(3):827-830. doi: 10.1038/jid.2012.379. Epub 2012 Oct 25. J Invest Dermatol. 2013. PMID: 23096712 Free PMC article. No abstract available.
Mutations in PERP Cause Dominant and Recessive Keratoderma.
Duchatelet S, Boyden LM, Ishida-Yamamoto A, Zhou J, Guibbal L, Hu R, Lim YH, Bole-Feysot C, Nitschké P, Santos-Simarro F, de Lucas R, Milstone LM, Gildenstern V, Helfrich YR, Attardi LD, Lifton RP, Choate KA, Hovnanian A. Duchatelet S, et al. Among authors: lifton rp. J Invest Dermatol. 2019 Feb;139(2):380-390. doi: 10.1016/j.jid.2018.08.026. Epub 2018 Oct 12. J Invest Dermatol. 2019. PMID: 30321533 Free PMC article.
Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia.
Boyden LM, Atzmony L, Hamilton C, Zhou J, Lim YH, Hu R, Pappas J, Rabin R, Ekstien J, Hirsch Y, Prendiville J, Lifton RP, Ferguson S, Choate KA. Boyden LM, et al. Among authors: lifton rp. Am J Hum Genet. 2019 Nov 7;105(5):1023-1029. doi: 10.1016/j.ajhg.2019.09.021. Epub 2019 Oct 17. Am J Hum Genet. 2019. PMID: 31630788 Free PMC article.
High bone density due to a mutation in LDL-receptor-related protein 5.
Boyden LM, Mao J, Belsky J, Mitzner L, Farhi A, Mitnick MA, Wu D, Insogna K, Lifton RP. Boyden LM, et al. Among authors: lifton rp. N Engl J Med. 2002 May 16;346(20):1513-21. doi: 10.1056/NEJMoa013444. N Engl J Med. 2002. PMID: 12015390 Free article.
Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma.
Boyden LM, Vincent NG, Zhou J, Hu R, Craiglow BG, Bayliss SJ, Rosman IS, Lucky AW, Diaz LA, Goldsmith LA, Paller AS, Lifton RP, Baserga SJ, Choate KA. Boyden LM, et al. Among authors: lifton rp. Am J Hum Genet. 2017 Jun 1;100(6):978-984. doi: 10.1016/j.ajhg.2017.05.003. Am J Hum Genet. 2017. PMID: 28575652 Free PMC article.
426 results