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RSPO4 is the major gene in autosomal-recessive anonychia and mutations cluster in the furin-like cysteine-rich domains of the Wnt signaling ligand R-spondin 4.
Brüchle NO, Frank J, Frank V, Senderek J, Akar A, Koc E, Rigopoulos D, van Steensel M, Zerres K, Bergmann C. Brüchle NO, et al. Among authors: van steensel m. J Invest Dermatol. 2008 Apr;128(4):791-6. doi: 10.1038/sj.jid.5701088. Epub 2007 Oct 4. J Invest Dermatol. 2008. PMID: 17914448 Free article.
Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia.
Bergmann C, Senderek J, Anhuf D, Thiel CT, Ekici AB, Poblete-Gutierrez P, van Steensel M, Seelow D, Nürnberg G, Schild HH, Nürnberg P, Reis A, Frank J, Zerres K. Bergmann C, et al. Among authors: van steensel m. Am J Hum Genet. 2006 Dec;79(6):1105-9. doi: 10.1086/509789. Epub 2006 Oct 17. Am J Hum Genet. 2006. PMID: 17186469 Free PMC article.
Lamin processing comes of age.
van Steensel MA, Frank J. van Steensel MA, et al. J Invest Dermatol. 2005 Nov;125(5):xii-xiii. doi: 10.1111/j.0022-202X.2005.23871.x. J Invest Dermatol. 2005. PMID: 16297177 Free article. No abstract available.
Novel mutations in the BHD gene and absence of loss of heterozygosity in fibrofolliculomas of Birt-Hogg-Dubé patients.
van Steensel MA, Verstraeten VL, Frank J, Kelleners-Smeets NW, Poblete-Gutiérrez P, Marcus-Soekarman D, Bladergroen RS, Steijlen PM, van Geel M. van Steensel MA, et al. Among authors: van geel m. J Invest Dermatol. 2007 Mar;127(3):588-93. doi: 10.1038/sj.jid.5700592. Epub 2006 Nov 23. J Invest Dermatol. 2007. PMID: 17124507 Free article.
Functional analysis of FLT4 mutations associated with Nonne-Milroy lymphedema.
Verstraeten VL, Holnthoner W, van Steensel MA, Veraart JC, Bladergroen RS, Heckman CA, Keskitalo S, Frank J, Alitalo K, van Geel M, Steijlen PM. Verstraeten VL, et al. Among authors: van steensel ma, van geel m. J Invest Dermatol. 2009 Feb;129(2):509-12. doi: 10.1038/jid.2008.246. Epub 2008 Aug 21. J Invest Dermatol. 2009. PMID: 18719607 Free article. No abstract available.
219 results