Congenital disease, skin and kidney development
Short, K.M., Smyth, I.M., 2012, Analysis of native kidney structures in three dimensions, in Methods in Molecular Biology - Kidney Development, eds O Michos, Humana Press, USA, pp. 95-107.
Caruana, G., Farlie, P.G., Hart, A.H., Bagheri-Fam, S., Wallace, M.J., Dobbie, M.S., Gordon, C.T., Miller, K.A., Whittle, B., Abud, H.E., Arkell, R.M., Cole, T.J., Harley, V.R., Smyth, I.M., Bertram, J.F., 2013, Genome-Wide ENU Mutagenesis in Combination with High Density SNP Analysis and Exome Sequencing Provides Rapid Identification of Novel Mouse Models of Developmental Disease, PLoS ONE [P], vol 8, issue 3, Public Library of Science, USA, pp. 1-13.
Short, K.M., Hodson, M.J., Smyth, I.M., 2013, Spatial mapping and quantification of developmental branching morphogenesis, Development [P], vol 140, issue 3, The Company of Biologists Ltd, UK, pp. 471-478.
Francois, M., Short, K., Secker, G.A., Combes, A., Schwarz, Q.P., Davidson, T., Smyth, I.M., Hong, Y., Harvey, N.L., Koopman, P.A., 2012, Segmental territories along the cardinal veins generate lymph sacs via a ballooning mechanism during embryonic lymphangiogenesis in mice, Developmental Biology [P], vol 364, issue 2, Academic Press, USA, pp. 89-98.
Heierhorst, J., Smyth, I., Jurado, S., 2011, A breathtaking phenotype: Unexpected roles of the DNA base damage response protein ASCIZ as a key regulator of early lung development, Cell Cycle [P], vol 10, issue 8, Landes Bioscience, USA, pp. 1222-1224.
Menon, K., Steer, D.L., Short, M., Petratos, S., Smyth, I.M., Bernard, C.C., 2011, A novel unbiased proteomic approach to detect the reactivity of cerebrospinal fluid in neurological diseases, Molecular & Cellular Proteomics [P], vol 10, issue 6 (Art. No: M110.000042), American Society for Biochemistry and Molecular Biology, Inc., USA, pp. 1-14.
Vissers, L.E., Cox, T.C., Maga, A.M., Short, K.M., Wiradjaja, F., Janssen, I.M., Jehee, F., Bertola, D., Liu, J., Yagnik, G., Sekiguchi, K., Kiyozumi, D., von Bokhoven, H., Marcelis, C., Cunningham, M.L., Anderson, P.J., Boyadjiev, S.A., Passos-Bueno, M.R., Veltman, J.A., Smyth, I.M., Buckley, M., Roscioli, T., 2011, Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice, Plos Genetics [P], vol 7, issue 9 (Art. No: e1002278), Public Library of Science, USA, pp. 1-11.
Yallowitz, A.R., Hrycaj, S.M., Short, K.M., Smyth, I.M., Wellik, D.M., 2011, Hox10 genes function in kidney development in the differentiation and integration of the cortical stroma, PLoS ONE [P], vol 6, issue 8 (Art. No: e23410), Public Library of Science, USA, pp. 1-11.
Slavotinek, A., Baranzini, S., Schanze, D., Labelle-Dumais, C., Short, K., Chao, R., Yahyavi, M., Bijlsma, E., Chua, C., Musone, S., Wheatley, A., Kwok, P., Marles, S., Fryns, J., Maga, A., Hassan, M., Gould, D., Madireddy, L., Li, C., Cox, T., Smyth, I., Chudley, A., Zenker, M., 2011, Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1, Journal Of Medical Genetics [P], vol 48, issue 6, BMJ Publishing Group, UK, pp. 375-382.
Wiradjaja, F., Ditommaso, T.M., Smyth, I.M., 2010, Basement membranes in development and disease, Birth Defects Research. Part C: Embryo Today Reviews [P], vol 90, issue 1, Wiley-Liss Div John Wiley & Sons Inc, USA, pp. 8-31.
Jurado, S., Smyth, I.M., van Denderen, B.J., Tenis, N., Hammet, A., Hewitt, K., Ng, J., McNees, C.J., Kozlov, S.V., Oka, H., Kobayashi, M., Conlan, L.A., Cole, T.J., Yamamoto, K., Taniguchi, Y., Takeda, S., Lavin, M.F., Heierhorst, J., 2010, Dual functions of ASCIZ in the DNA base damage response and pulmonary organogenesis, Plos Genetics [P], vol 6, issue 10, Public Library of Science, USA, pp. 1-13.
Short, K.M., Hodson, M.J., Smyth, I.M., 2010, Tomographic quantification of branching morphogenesis and renal development., Kidney International [P], vol 77, issue 12, Nature Publishing Group, UK, USA, pp. 1132-1139.
Mill, P., Lee, A.W.S., Fukata, Y., Tsutsumi, R., Fukata, M., Keighren, M., Porter, R.M., McKie, L., Smyth, I.M., Jackson, I.J., 2009, Palmitoylation regulates epidermal homeostasis and hair follicle differentiation, Plos Genetics [P], vol 5, issue 11 (e1000748), Public Library of Science, USA, pp. 1-15.
Smyth, I.M., Hacking, D.F., Hilton, A.A., Mukhamedova, N., Meikle, P.J., Ellis, S., Slattery, K., Collinge, J.E., de Graaf, C.A., Bahlo, M., Sviridov, D., Kile, B., Hilton, D., 2008, A mouse model of harlequin ichthyosis delineates a key role for Abca12 in lipid homeostasis, PL o S Genetics, vol 4, issue 9 (e1000192), Public Library of Science, United States, pp. 1-11.
Gautier, P., Naranjo Golborne, C.I., Taylor, M.S., Jackson, I.J., Smyth, I.M., 2008, Expression of the fras1/frem gene family during zebrafish development and fin morphogenesis, Developmental Dynamics, vol 237, issue 11, John Wiley & Sons, Inc., United States, pp. 3295-3304.
Short, K.M., Wiradjaja, F., Smyth, I.M., 2007, Let's stick together: The role of the Fras1 and Frem proteins in epidermal adhesion, IUBMB Life, vol 59, issue 7, Taylor & Francis Inc, Philadelphia PA USA, pp. 427-435.
Smyth, I.M., Wilming, L., Lee, A.W., Taylor, M.S., Gautier, P., Barlow, K., Wallis, J., Martin, S., Glithero, R., Phillimore, B., Pelan, S., Andrew, R., Holt, K., Taylor, R., McLaren, S., Burton, J., Bailey, J., Sims, S., Squares, J., Plumb, B., Joy, A., Gibson, R., Gilbert, J., Hart, E., Laird, G., Loveland, J., Mudge, J., Steward, C., Swarbreck, D., Harrow, J., North, P., Leaves, N., Greystrong, J., Coppola, M., Manjunath, S., Campbell, M., Smith, M., Strachan, G., Tofts, C., Boal, E., Cobley, V., Hunter, G., Kimberley, C., Thomas, D., Cave-Berry, L., Weston, P., Botcherby, M.R., White, S., Edgar, R., Cross, S.H., Irvani, M., Hummerich, H., Simpson, E.H., Johnson, D., Hunsicker, P.R., Little, P.F., Hubbard, T., Campbell, R.D., Rogers, J., Jackson, I.J., 2006, Genomic anatomy of the Tyrp1 (brown) deletion complex, Proceedings of the National Academy of Sciences of the United States of America, vol 103, issue 10, National Academy of Sciences, Washington USA, pp. 3704-3709.
Takeda, H., Lyle, S., Lazar, A.J., Zouboulis, C.C., Smyth, I.M., Watt, F.M., 2006, Human sebaceous tumors harbor inactivating mutations in LEF1, Nature Medicine, vol 12, issue 4, Nature Publishing Group, New York USA, pp. 395-397.
Jadeja, S., Smyth, I.M., Pitera, J.E., Taylor, M.S., van Haelst, M., Bentley, E., McGregor, L., Hopkins, J., Chalepakis, G., Philip, N., Aytes, A.P., Watt, F.M., Darling, S.M., Jackson, I.J., Woolf, A.S., Scambler, P.J., 2005, Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs, Nature Genetics, vol 37, issue 5, Nature Publishing Group, New York USA, pp. 520-525.
Smyth, I.M., Scambler, P.J., 2005, The genetics of Fraser syndrome and the blebs mouse mutants, Human Molecular Genetics [P], vol 14, issue 2, Oxford University Press, UK, pp. R269-R274.
Smyth, I.M., Ellis, T., Hetherington, R., Riley, E., Narang, M., Mahony, D., Wicking, C., Rothnagel, J.A., Wainwright, B., 2004, Krt6a-Cre Transgenic Mice Direct LoxP-Mediated Recombination to the Companion Cell Layer of the Hair Follicle and Following Induction by Retinoic Acid to the Interfollicular Epidermis, Journal of Investigative Dermatology [P], vol 122, issue 1, Nature Publishing Group, UK & USA, pp. 232-234.
Smyth, I.M., Du, X., Taylor, M.S., Justice, M.J., Beutler, B., Jackson, I.J., 2004, The extracellular matrix gene Frem 1 is essential for the normal adhesion of the embryonic epidermis, Proceedings of the National Academy of Sciences of the United States of America, vol 101, issue 37, National Academy of Sciences, Washington USA, pp. 13560-13565.
Ellis, T., Smyth, I.M., Riley, E., Bowles, J., Adolphe, C., Rothnagel, J.A., Wicking, C., Wainwright, B., 2003, Overexpression of Sonic hedgehog suppresses embryonic hair follicle morphogenesis, Developmental Biology, vol 263, issue 2, Academic Press Inc. Elsevier Science, San Diego USA, pp. 203-215.
Ellis, T., Smyth, I.M., Riley, E., Graham, S., Elliot, K., Narang, M., Kay, G.F., Wicking, C., Wainwright, B., 2003, Patched 1 conditional null allele in mice, Genesis [P], vol 36, issue 3, John Wiley & Sons Inc, USA, pp. 158-161.
Smyth, I.M., Narang, M.A., Evans, T., Heimann, C., Nakamura, Y., Chenevix-Trench, G., Pietsch, T., Wicking, C., Wainwright, B., 1999, Isolation and characterization of human Patched 2 (PTCH2), a putative tumour suppressor gene in basal cell carcinoma and medulloblastoma on chromosome 1p32, Human Molecular Genetics, vol 8, issue 2, Oxford University Press, Oxford England, pp. 291-297.
Wicking, C., Shanley, S., Smyth, I.M., Gillies, S., Negus, K., Graham, S., Suthers, G., Haites, N., Edwards, M., Wainwright, B., Chenevix-Trench, G., 1997, Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident, American Journal of Human Genetics, vol 60, issue 1, University of Chicago Press, Chicago USA, pp. 21-26.
Hahn, H., Wicking, C., Zaphiropoulos, P.G., Gailani, M.R., Shanley, S., Chidambaram, A., Vorechovsky, I., Holmberg, E., Unden, A.B., Gillies, S., Negus, K., Smyth, I.M., Pressman, C., Leffell, D.J., Gerrard, B., Goldstein, A.M., Dean, M., Toftgard, R., Chenevix-Trench, G., Wainwright, B., Bale, A.E., 1996, Mutations of the human homolog of drosphilia patched in the nevoid basal cell carcinoma syndrome, Cell, vol 85, issue 6, Cell Press, Cambridge USA, pp. 841-851.
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