Select Publications
Journal articles
2021, 'Syntaxins 6 and 8 facilitate tau into secretory pathways', Biochemical Journal, 478, pp. 1471 - 1484, http://dx.doi.org/10.1042/BCJ20200664
,2016, 'RNA-Seq analysis of Gtf2ird1 knockout epidermal tissue provides potential insights into molecular mechanisms underpinning Williams-Beuren syndrome', BMC Genomics, 17, pp. 450, http://dx.doi.org/10.1186/s12864-016-2801-4
,2015, 'The nuclear localization pattern and interaction partners of GTF2IRD1 demonstrate a role in chromatin regulation', Human Genetics, 134, pp. 1099 - 1115, http://dx.doi.org/10.1007/s00439-015-1591-0
,2015, 'The role of GTF2IRD1 in the auditory pathology of Williams-Beuren Syndrome', European Journal of Human Genetics, 23, pp. 774 - 780, http://dx.doi.org/10.1038/ejhg.2014.188
,2013, 'A novel class of anticancer compounds targets the actin cytoskeleton in tumor cells', Cancer research, 73, pp. 5169 - 5182, http://dx.doi.org/10.1158/0008-5472.CAN-12-4501
,2012, 'GTF2IRD2 from the Williams-Beuren critical region encodes a mobile element-derived fusion protein that antagonizes the action of its related family members', Journal of Cell Science, 125, pp. 5040 - 5050, http://dx.doi.org/10.1242/​jcs.102798
,2012, 'Mutation of Gtf2ird1 from the Williams-Beuren syndrome critical region results in facial dysplasia, motor dysfunction, and altered vocalisations.', Neurobiology of Disease, 45, pp. 913 - 922, http://dx.doi.org/10.1016/j.nbd.2011.12.010
,2012, 'SUMOylation of GTF2IRD1 regulates protein partner interactions and ubiquitin-mediated degradation', PLoS ONE, 7, pp. e49283 pg 1 - e49283 pg 10, http://dx.doi.org/10.1371/journal.pone.0049283
,2010, 'Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanism', The Journal of Biological Chemistry, 285, pp. 4715 - 4724, http://dx.doi.org/10.1074/jbc.M109.086660
,2007, 'Expression of Gtf2ird1, the Williams syndrome-associated gene during mouse development', Gene Expression Patterns, 7, pp. 396 - 404, http://dx.doi.org/10.1016/j.modgep.2006.11.008
,2007, 'Sex determination and gonadal development in mammals', Physiological Reviews, 87, pp. 1 - 28, http://dx.doi.org/10.1152/physrev.00009.2006
,2006, 'MusTRD can regulate postnatal fiber-specific expression', Developmental Biology, 293, pp. 104 - 115, http://dx.doi.org/10.1016/j.ydbio.2006.01.019
,2003, 'hMusTRD1α1 Represses MEF2 Activation of the Troponin I Slow Enhancer', The Journal of Biological Chemistry, 278, pp. 36603 - 36610, http://dx.doi.org/10.1074/jbc.M212814200
,2001, 'A short pseudoautosomal region in laboratory mice.', Genome Research, 11, pp. 1826 - 1832, http://dx.doi.org/10.1101/gr.203001
,2001, 'The small muscle-specific protein Csl modifies cell shape and promotes myocyte fusion in an IGF-1 dependent manner', Journal of Cell Biology, 153, pp. 985 - 997, http://dx.doi.org/10.1083/jcb.153.5.985
,2000, 'Erratum: Chamber formation and morphogenesis in the developing mammalian heart (Developmental Biology (2000) 223:2 (266-278))', Developmental Biology, 225, pp. 266, http://dx.doi.org/10.1006/dbio.2000.9859
,2000, 'Chamber Formation and Morphogenesis in the Developing Mammalian Heart.', Developmental Biology, 223, pp. 266 - 278, http://dx.doi.org/10.1006/dbio.2000.9753
,1999, 'Role of homeodomain factor Nkx2-5 in cardiac development and disease', DEVELOPMENTAL BIOLOGY, 210, pp. 205 - 205, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000080918000154&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,1998, 'The human FXY gene is located within Xp22.3: Implications for evolution of the mammalian X chromosome', Human Molecular Genetics, 7, pp. 299 - 305, http://dx.doi.org/10.1093/hmg/7.2.299
,1998, 'The Y* rearrangement in mice: New insights into a perplexing PAR', Cytogenetics and Cell Genetics, 80, pp. 37 - 40, http://dx.doi.org/10.1159/000014954
,1998, 'Patchy fur, a mouse coat mutation associated with X-Y nondisjunction, maps to the pseudoautosomal boundary region.', Genomics, 54, pp. 556 - 559, http://dx.doi.org/10.1006/geno.1998.5528
,1998, 'The Y* rearrangement in mice: new insights into a perplexing pseudoautosomal region', Genetical Research, 72, pp. 59 - 72, http://dx.doi.org/10.1017/s0016672398393301
,1997, 'A gene spans the pseudoautosomal boundary in mice', Proceedings of the National Academy of Sciences of the United States of America, 94, pp. 12030 - 12035, http://dx.doi.org/10.1073/pnas.94.22.12030
,1996, 'Structural variation of the pseudoautosomal region between and within inbred mouse strains', Proceedings of the National Academy of Sciences of the United States of America, 93, pp. 171 - 175, http://dx.doi.org/10.1073/pnas.93.1.171
,1995, 'A contravention of Ohno’s law in mice', Nature Genetics, 10, pp. 472 - 476, http://dx.doi.org/10.1038/ng0895-472
,1992, 'Fertility in mice requires X-Y pairing and a Y-chromosomal "Spermiogenesis" gene mapping to the long arm', Cell, 71, pp. 391 - 398, http://dx.doi.org/10.1016/0092-8674(92)90509-B
,1991, 'In situ analysis of fetal, prepuberal and adult XX↔XY chimaeric mouse testes: Sertoli cells are predominantly, but not exclusively, XY', Development, 112, pp. 265 - 268
,1991, 'The Mus musculus domesticus Tdy allele acts later than the Mus musculus musculus Tdy allele: A basis for XY sex-reversal in C57BL/6-YPOS mice', Development, 113, pp. 709 - 714
,1991, 'XY follicle cells in the ovaries of XO/XY and XO/XY/XYY mosaic mice', Development, 111, pp. 1017 - 1019
,1990, 'Creation of a functioning chimeric mammalian kidney', Kidney International, 38, pp. 991 - 997, http://dx.doi.org/10.1038/ki.1990.303
,1990, 'XYY spermatogenesis in XO/XY/XYY mosaic mice', Cytogenetics and Cell Genetics, 54, pp. 29 - 34, http://dx.doi.org/10.1159/000132949
,Conference Papers
2012, 'Developing chemotherapeutics which selectively disable the actin cytoskeleton of tumor cells', in EXPERIMENTAL DERMATOLOGY, WILEY-BLACKWELL, GERMANY, Marburg, pp. e43 - e43, presented at 39th Annual Meeting of the Arbeitsgemeinschaft-Dermatologische-Forschung (ADF), GERMANY, Marburg, 01 March 2012 - 03 March 2012, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000300931700252&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2011, 'Abstract A178: Developing chemotherapeutics which selectively disable the actin cytoskeleton of tumor cells.', in Molecular Cancer Therapeutics, American Association for Cancer Research (AACR), pp. A178 - A178, http://dx.doi.org/10.1158/1535-7163.targ-11-a178
,2010, 'Tropomyosin Tm5NM1: A novel target for cancer therapy', in EJC SUPPLEMENTS, PERGAMON-ELSEVIER SCIENCE LTD, GERMANY, Berlin, pp. 107 - 107, presented at 22nd EORTC-NCI-AACR Symposium on Molecular Targets and Cancer Therapeutics, GERMANY, Berlin, 16 November 2010 - 19 November 2010, http://dx.doi.org/10.1016/S1359-6349(10)72041-3
,1997, 'Homebox genes and heart development', in Cold Spring Harbor Symposia on Quantitative Biology, pp. 395 - 403, http://dx.doi.org/10.1101/sqb.1997.062.01.047
,1992, 'CELLULAR BASIS OF SEX DETERMINATION AND SEX REVERSAL IN MAMMALS', in Hillier SG (ed.), GONADAL DEVELOPMENT AND FUNCTION, RAVEN PRESS, SCOTLAND, PEEBLES, pp. 17 - 29, presented at 9TH WORKSHOP ON THE DEVELOPMENT AND FUNCTION OF REPRODUCTIVE ORGANS, SCOTLAND, PEEBLES, 25 May 1992 - 27 May 1992, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:A1992BY12C00003&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,Conference Abstracts
2012, 'Improving the specificity of drugs which target the actin cytoskeleton for cancer therapy', in CANCER RESEARCH, AMER ASSOC CANCER RESEARCH, Vol. 72, http://dx.doi.org/10.1158/1538-7445.AM2012-5230
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