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Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting.
Nat Genet. 2013 Oct;45(10):1244-1248. doi: 10.1038/ng.2739. Epub 2013 Aug 25.
Nat Genet. 2013.
PMID: 23974871
Free PMC article.
Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.
Pohler E, Mamai O, Hirst J, Zamiri M, Horn H, Nomura T, Irvine AD, Moran B, Wilson NJ, Smith FJ, Goh CS, Sandilands A, Cole C, Barton GJ, Evans AT, Shimizu H, Akiyama M, Suehiro M, Konohana I, Shboul M, Teissier S, Boussofara L, Denguezli M, Saad A, Gribaa M, Dopping-Hepenstal PJ, McGrath JA, Brown SJ, Goudie DR, Reversade B, Munro CS, McLean WH.
Pohler E, et al.
Nat Genet. 2012 Nov;44(11):1272-6. doi: 10.1038/ng.2444. Epub 2012 Oct 14.
Nat Genet. 2012.
PMID: 23064416
Free PMC article.
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Tmem79/Matt is the matted mouse gene and is a predisposing gene for atopic dermatitis in human subjects.
Saunders SP, Goh CS, Brown SJ, Palmer CN, Porter RM, Cole C, Campbell LE, Gierlinski M, Barton GJ, Schneider G, Balmain A, Prescott AR, Weidinger S, Baurecht H, Kabesch M, Gieger C, Lee YA, Tavendale R, Mukhopadhyay S, Turner SW, Madhok VB, Sullivan FM, Relton C, Burn J, Meggitt S, Smith CH, Allen MA, Barker JN, Reynolds NJ, Cordell HJ, Irvine AD, McLean WH, Sandilands A, Fallon PG.
Saunders SP, et al.
J Allergy Clin Immunol. 2013 Nov;132(5):1121-9. doi: 10.1016/j.jaci.2013.08.046. Epub 2013 Sep 29.
J Allergy Clin Immunol. 2013.
PMID: 24084074
Free PMC article.
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Mutations in the SASPase gene (ASPRV1) are not associated with atopic eczema or clinically dry skin.
Sandilands A, Brown SJ, Goh CS, Pohler E, Wilson NJ, Campbell LE, Miyamoto K, Kubo A, Irvine AD, Thawer-Esmail F, Munro CS, McLean WH, Kudoh J, Amagai M, Matsui T.
Sandilands A, et al.
J Invest Dermatol. 2012 May;132(5):1507-10. doi: 10.1038/jid.2011.479. Epub 2012 Feb 9.
J Invest Dermatol. 2012.
PMID: 22318384
Free PMC article.
No abstract available.
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Wide spectrum of filaggrin-null mutations in atopic dermatitis highlights differences between Singaporean Chinese and European populations.
Chen H, Common JE, Haines RL, Balakrishnan A, Brown SJ, Goh CS, Cordell HJ, Sandilands A, Campbell LE, Kroboth K, Irvine AD, Goh DL, Tang MB, van Bever HP, Giam YC, McLean WH, Lane EB.
Chen H, et al.
Br J Dermatol. 2011 Jul;165(1):106-14. doi: 10.1111/j.1365-2133.2011.10331.x.
Br J Dermatol. 2011.
PMID: 21428977
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Human reconstructed skin xenografts on mice to model skin physiology.
Salgado G, Ng YZ, Koh LF, Goh CSM, Common JE.
Salgado G, et al. Among authors: goh csm.
Differentiation. 2017 Nov-Dec;98:14-24. doi: 10.1016/j.diff.2017.09.004. Epub 2017 Sep 14.
Differentiation. 2017.
PMID: 29059535
Review.
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Filaggrin null mutations are not a protective factor for acne vulgaris.
Common JE, Brown SJ, Haines RL, Goh CS, Chen H, Balakrishnan A, Munro CS, Tan AW, Tan HH, Tang MB, Lane EB.
Common JE, et al.
J Invest Dermatol. 2011 Jun;131(6):1378-80. doi: 10.1038/jid.2011.23. Epub 2011 Feb 17.
J Invest Dermatol. 2011.
PMID: 21326297
Free PMC article.
No abstract available.
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