Gelsolin plays a role in the actin polymerization complex of hair cell stereocilia.

Autor: Philomena Mburu, María Rosario Romero, Helen Hilton, Andrew Parker, Stuart Townsend, Yoshiaki Kikkawa, Steve D M Brown

Publikováno v: PLoS ONE, Vol 5, Iss 7, p e11627 (2010)

A complex of proteins scaffolded by the PDZ protein, whirlin, reside at the stereocilia tip and are critical for stereocilia development and elongation. We have shown that in outer hair cells (OHCs) whirlin is part of a larger complex involving the M

Externí odkaz: https://doaj.org/article/8b684e3814bb4e2ba5caa60f61807aa3

A mutation in the mitochondrial fission gene Dnm1l leads to cardiomyopathy

Autor: Dorota Szumska, Debbie Williams, Michael Cheeseman, Violetta Steeples, Narcis Fernandez-Fuentes, Sara Wells, T. Neil Dear, Zuzanne Lalanne, John M. Land, Christopher Towlson, Ivana Barbaric, Monica Neilan, Julian L. Griffin, D. P. Norris, Iain P. Hargreaves, Craig A. Lygate, Louise Docherty, Tertius Hough, Hugh Watkins, Vincenzo C. Leo, Stuart Townsend, Shoumo Bhattacharya, Paul Denny, Houman Ashrafian, Sarah Glyn-Jones

Publikováno v: Ashrafian, H, Docherty, L, Leo, V, Towlson, C, Neilan, M, Steeples, V, Lygate, C A, Hough, T, Townsend, S, Williams, D, Wells, S, Norris, D, Glyn-Jones, S, Land, J, Barbaric, I, Lalanne, Z, Denny, P, Szumska, D, Bhattacharya, S, Griffin, J L, Hargreaves, I, Fernandez-Fuentes, N, Cheeseman, M, Watkins, H & Dear, T N 2010, ' A Mutation in the Mitochondrial Fission Gene Dnm1l Leads to Cardiomyopathy ', PLoS Genetics, vol. 6, no. 6, ARTN e1001000 . https://doi.org/10.1371/journal.pgen.1001000
PLoS Genetics, Vol 6, Iss 6, p e1001000 (2010)
PLoS Genetics

Mutations in a number of genes have been linked to inherited dilated cardiomyopathy (DCM). However, such mutations account for only a small proportion of the clinical cases emphasising the need for alternative discovery approaches to uncovering novel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67ea473c430b5e9b0ff1b009a59f8c2d
https://doi.org/10.1371/journal.pgen.1001000

The PCP genes Celsr1 and Vangl2 are required for normal lung branching morphogenesis

Autor: Stuart Townsend, Lee Niswander, Caroline J. Formstone, Jennifer N. Murdoch, Laura L. Yates, Charlotte H. Dean, Carsten Schnatwinkel, Andy Greenfield, Debora Bogani

Publikováno v: Human Molecular Genetics

The lungs are generated by branching morphogenesis as a result of reciprocal signalling interactions between the epithelium and mesenchyme during development. Mutations that disrupt formation of either the correct number or shape of epithelial branch

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0efcfb93cdf23cccb7456ae278ed6f61
http://europepmc.org/articles/PMC2865378

Whirlin complexes with p55 at the stereocilia tip during hair cell development

Autor: Hiromichi Yonekawa, Philomena Mburu, Yoshiaki Kikkawa, Steve D.M. Brown, Stuart Townsend, Rosario Romero

Publikováno v: Proceedings of the National Academy of Sciences. 103:10973-10978

Hearing in mammals depends upon the proper development of actin-filled stereocilia at the hair cell surface in the inner ear. Whirlin, a PDZ domain-containing protein, is expressed at stereocilia tips and, by virtue of mutations in the whirlin gene,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09185a862d6cc4fd9880e0263530eefe
https://doi.org/10.1073/pnas.0600923103

Comments on the Recently Reported Low Biological Effectiveness of Ultrasoft X Rays

Autor: Dudley T. Goodhead, Mark A. Hill, K. M Stuart Townsend, David L. Stevens

Publikováno v: Radiation Research. 155:503-510

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1b3ddfa9fc7f1ecaa45ccb46fa1f244
https://doi.org/10.1667/0033-7587(2001)155[0503:cotrrl]2.0.co