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Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis.
Fratta P, Sivakumar P, Humphrey J, Lo K, Ricketts T, Oliveira H, Brito-Armas JM, Kalmar B, Ule A, Yu Y, Birsa N, Bodo C, Collins T, Conicella AE, Mejia Maza A, Marrero-Gagliardi A, Stewart M, Mianne J, Corrochano S, Emmett W, Codner G, Groves M, Fukumura R, Gondo Y, Lythgoe M, Pauws E, Peskett E, Stanier P, Teboul L, Hallegger M, Calvo A, Chiò A, Isaacs AM, Fawzi NL, Wang E, Housman DE, Baralle F, Greensmith L, Buratti E, Plagnol V, Fisher EM, Acevedo-Arozena A. Fratta P, et al. Among authors: housman de. EMBO J. 2018 Jun 1;37(11):e98684. doi: 10.15252/embj.201798684. Epub 2018 May 15. EMBO J. 2018. PMID: 29764981 Free PMC article.
Characterization of FUS mutations in amyotrophic lateral sclerosis using RNA-Seq.
van Blitterswijk M, Wang ET, Friedman BA, Keagle PJ, Lowe P, Leclerc AL, van den Berg LH, Housman DE, Veldink JH, Landers JE. van Blitterswijk M, et al. Among authors: housman de. PLoS One. 2013;8(4):e60788. doi: 10.1371/journal.pone.0060788. Epub 2013 Apr 8. PLoS One. 2013. PMID: 23577159 Free PMC article.
Transcriptome alterations in myotonic dystrophy skeletal muscle and heart.
Wang ET, Treacy D, Eichinger K, Struck A, Estabrook J, Olafson H, Wang TT, Bhatt K, Westbrook T, Sedehizadeh S, Ward A, Day J, Brook D, Berglund JA, Cooper T, Housman D, Thornton C, Burge C. Wang ET, et al. Hum Mol Genet. 2019 Apr 15;28(8):1312-1321. doi: 10.1093/hmg/ddy432. Hum Mol Genet. 2019. PMID: 30561649 Free PMC article.
Alternative splicing and genomic structure of the Wilms tumor gene WT1.
Haber DA, Sohn RL, Buckler AJ, Pelletier J, Call KM, Housman DE. Haber DA, et al. Among authors: housman de. Proc Natl Acad Sci U S A. 1991 Nov 1;88(21):9618-22. doi: 10.1073/pnas.88.21.9618. Proc Natl Acad Sci U S A. 1991. PMID: 1658787 Free PMC article.
Aberrant splicing of HTT generates the pathogenic exon 1 protein in Huntington disease.
Sathasivam K, Neueder A, Gipson TA, Landles C, Benjamin AC, Bondulich MK, Smith DL, Faull RL, Roos RA, Howland D, Detloff PJ, Housman DE, Bates GP. Sathasivam K, et al. Among authors: housman de. Proc Natl Acad Sci U S A. 2013 Feb 5;110(6):2366-70. doi: 10.1073/pnas.1221891110. Epub 2013 Jan 22. Proc Natl Acad Sci U S A. 2013. PMID: 23341618 Free PMC article.
Structure and expression of the Huntington's disease gene: evidence against simple inactivation due to an expanded CAG repeat.
Ambrose CM, Duyao MP, Barnes G, Bates GP, Lin CS, Srinidhi J, Baxendale S, Hummerich H, Lehrach H, Altherr M, Wasmuth J, Buckler A, Church D, Housman D, Berks M, Micklem G, Durbin R, Dodge A, Read A, Gusella J, MacDonald ME. Ambrose CM, et al. Somat Cell Mol Genet. 1994 Jan;20(1):27-38. doi: 10.1007/BF02257483. Somat Cell Mol Genet. 1994. PMID: 8197474
255 results