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Sh3tc2 deficiency affects neuregulin-1/ErbB signaling.
Gouttenoire EA, Lupo V, Calpena E, Bartesaghi L, Schüpfer F, Médard JJ, Maurer F, Beckmann JS, Senderek J, Palau F, Espinós C, Chrast R. Gouttenoire EA, et al. Among authors: beckmann js. Glia. 2013 Jul;61(7):1041-51. doi: 10.1002/glia.22493. Epub 2013 Apr 2. Glia. 2013. PMID: 23553667
SREBP-1c expression in Schwann cells is affected by diabetes and nutritional status.
de Preux AS, Goosen K, Zhang W, Sima AA, Shimano H, Ouwens DM, Diamant M, Hillebrands JL, Rozing J, Lemke G, Beckmann JS, Smit AB, Verheijen MH, Chrast R. de Preux AS, et al. Among authors: beckmann js. Mol Cell Neurosci. 2007 Aug;35(4):525-34. doi: 10.1016/j.mcn.2007.04.010. Epub 2007 May 1. Mol Cell Neurosci. 2007. PMID: 17632011 Free article.
USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.
Adato A, Vreugde S, Joensuu T, Avidan N, Hamalainen R, Belenkiy O, Olender T, Bonne-Tamir B, Ben-Asher E, Espinos C, Millán JM, Lehesjoki AE, Flannery JG, Avraham KB, Pietrokovski S, Sankila EM, Beckmann JS, Lancet D. Adato A, et al. Among authors: beckmann js. Eur J Hum Genet. 2002 Jun;10(6):339-50. doi: 10.1038/sj.ejhg.5200831. Eur J Hum Genet. 2002. PMID: 12080385
A unique set of SH3-SH3 interactions controls IB1 homodimerization.
Kristensen O, Guenat S, Dar I, Allaman-Pillet N, Abderrahmani A, Ferdaoussi M, Roduit R, Maurer F, Beckmann JS, Kastrup JS, Gajhede M, Bonny C. Kristensen O, et al. Among authors: beckmann js. EMBO J. 2006 Feb 22;25(4):785-97. doi: 10.1038/sj.emboj.7600982. Epub 2006 Feb 2. EMBO J. 2006. PMID: 16456539 Free PMC article.
Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3.
Senderek J, Garvey SM, Krieger M, Guergueltcheva V, Urtizberea A, Roos A, Elbracht M, Stendel C, Tournev I, Mihailova V, Feit H, Tramonte J, Hedera P, Crooks K, Bergmann C, Rudnik-Schöneborn S, Zerres K, Lochmüller H, Seboun E, Weis J, Beckmann JS, Hauser MA, Jackson CE. Senderek J, et al. Among authors: beckmann js. Am J Hum Genet. 2009 Apr;84(4):511-8. doi: 10.1016/j.ajhg.2009.03.006. Epub 2009 Apr 2. Am J Hum Genet. 2009. PMID: 19344878 Free PMC article.
404 results