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FRG1P is localised in the nucleolus, Cajal bodies, and speckles.
van Koningsbruggen S, Dirks RW, Mommaas AM, Onderwater JJ, Deidda G, Padberg GW, Frants RR, van der Maarel SM. van Koningsbruggen S, et al. Among authors: van der maarel sm. J Med Genet. 2004 Apr;41(4):e46. doi: 10.1136/jmg2003.012781. J Med Genet. 2004. PMID: 15060122 Free PMC article. No abstract available.
FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients.
Rijkers T, Deidda G, van Koningsbruggen S, van Geel M, Lemmers RJ, van Deutekom JC, Figlewicz D, Hewitt JE, Padberg GW, Frants RR, van der Maarel SM. Rijkers T, et al. Among authors: van der maarel sm, van koningsbruggen s, van geel m, van deutekom jc. J Med Genet. 2004 Nov;41(11):826-36. doi: 10.1136/jmg.2004.019364. J Med Genet. 2004. PMID: 15520407 Free PMC article.
FRG1P-mediated aggregation of proteins involved in pre-mRNA processing.
van Koningsbruggen S, Straasheijm KR, Sterrenburg E, de Graaf N, Dauwerse HG, Frants RR, van der Maarel SM. van Koningsbruggen S, et al. Among authors: van der maarel sm. Chromosoma. 2007 Feb;116(1):53-64. doi: 10.1007/s00412-006-0083-3. Epub 2006 Nov 14. Chromosoma. 2007. PMID: 17103222
Llama-derived phage display antibodies in the dissection of the human disease oculopharyngeal muscular dystrophy.
van Koningsbruggen S, de Haard H, de Kievit P, Dirks RW, van Remoortere A, Groot AJ, van Engelen BG, den Dunnen JT, Verrips CT, Frants RR, van der Maarel SM. van Koningsbruggen S, et al. Among authors: van der maarel sm, van engelen bg, van remoortere a. J Immunol Methods. 2003 Aug;279(1-2):149-61. doi: 10.1016/s0022-1759(03)00232-1. J Immunol Methods. 2003. PMID: 12969556
Facioscapulohumeral muscular dystrophy region gene 1 is a dynamic RNA-associated and actin-bundling protein.
Sun CY, van Koningsbruggen S, Long SW, Straasheijm K, Klooster R, Jones TI, Bellini M, Levesque L, Brieher WM, van der Maarel SM, Jones PL. Sun CY, et al. Among authors: van der maarel sm, van koningsbruggen s. J Mol Biol. 2011 Aug 12;411(2):397-416. doi: 10.1016/j.jmb.2011.06.014. Epub 2011 Jun 15. J Mol Biol. 2011. PMID: 21699900 Free PMC article.
Prevention of oculopharyngeal muscular dystrophy-associated aggregation of nuclear polyA-binding protein with a single-domain intracellular antibody.
Verheesen P, de Kluijver A, van Koningsbruggen S, de Brij M, de Haard HJ, van Ommen GJ, van der Maarel SM, Verrips CT. Verheesen P, et al. Among authors: van der maarel sm, van ommen gj, van koningsbruggen s. Hum Mol Genet. 2006 Jan 1;15(1):105-11. doi: 10.1093/hmg/ddi432. Epub 2005 Nov 30. Hum Mol Genet. 2006. PMID: 16319127
Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome).
Rahikkala E, Myllykoski M, Hinttala R, Vieira P, Nayebzadeh N, Weiss S, Plomp AS, Bittner RE, Kurki MI, Kuismin O, Lewis AM, Väisänen ML, Kokkonen H, Westermann J, Bernert G, Tuominen H, Palotie A, Aaltonen L, Yang Y, Potocki L, Moilanen J, van Koningsbruggen S, Wang X, Schmidt WM, Koivunen P, Uusimaa J. Rahikkala E, et al. Among authors: van koningsbruggen s. Genet Med. 2019 Oct;21(10):2355-2363. doi: 10.1038/s41436-019-0503-4. Epub 2019 Apr 3. Genet Med. 2019. PMID: 30940925 Free PMC article.
36 results