Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations.

Autor: Kevin C Knower, Sabine Kelly, Louisa M Ludbrook, Stefan Bagheri-Fam, Helena Sim, Pascal Bernard, Ryohei Sekido, Robin Lovell-Badge, Vincent R Harley

Publikováno v: PLoS ONE, Vol 6, Iss 3, p e17751 (2011)

BackgroundIn human embryogenesis, loss of SRY (sex determining region on Y), SOX9 (SRY-related HMG box 9) or SF1 (steroidogenic factor 1) function causes disorders of sex development (DSD). A defining event of vertebrate sex determination is male-spe

Externí odkaz: https://doaj.org/article/bea90a38f7f8408cb1c98344a5605be2

Direct Regulation of Adult Brain Function by the Male-Specific Factor SRY

Autor: Paul E. Micevych, Sabine Kelly, Eric Vilain, Pierre-Olivier Fernagut, Charleston W. K. Chiang, Kenneth H. Albrecht, Kevin Sinchak, Phoebe Dewing, Marie-Françoise Chesselet, Vincent R. Harley, Helena Sim

Publikováno v: Current Biology. 16:415-420

SummaryThe central dogma of mammalian brain sexual differentiation has contended that sex steroids of gonadal origin organize the neural circuits of the developing brain [1]. Recent evidence has begun to challenge this idea and has suggested that, in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1564c4ed8cd72efbb9fe51eeb3dbf5ec
https://doi.org/10.1016/j.cub.2006.01.017

Recombinant Expression, Purification and Characterisation of the Hmg Domain of Human Sry

Autor: Julia Yotis, Vincent R. Harley, Sabine Kelly, Mary Macris

Publikováno v: Protein & Peptide Letters. 10:281-286

The HMG domain is a DNA binding and bending 'architectural' motif involved in chromatin re-modelling during transcription. Recombinant SRY HMG domain protein, 88 amino acids in length, has been produced in E. coli. Using FPLC and a stirred ultra-filt

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40bfc8cc8627b3de73400805c4308034
https://doi.org/10.2174/0929866033479004

Defective calmodulin-mediated nuclear transport of the sex-determining region of the Y chromosome (SRY) in XY sex reversal

Autor: Vincent R. Harley, Andrew H. A. Clayton, Sabine Kelly, Kieran A Rimmer, Louisa M. Ludbrook, Helena Sim

Publikováno v: Molecular endocrinology (Baltimore, Md.). 19(7)

The sex-determining region of the Y chromosome (SRY) plays a key role in human sex determination, as mutations in SRY can cause XY sex reversal. Although some SRY missense mutations affect DNA binding and bending activities, it is unclear how others

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3bfdc24fca67bd60e2bbc2d776f6365
https://pubmed.ncbi.nlm.nih.gov/15746192

Contents Vol. 101, 2003

Autor: N. Moreno-Mendoza, S. Aoyama, E. De Baere, M. Nakamura, M.H. Bogart, R.P. Teasdale, N.R. Bromage, Richard R. Behringer, D.K. Griffin, G.-C. Wu, N. Servel, Y.-H. Lee, V.A. Lance, M. Takase, Q. Yu, S.C. Harvey, P Penman, C. Santucciu, Annemiek Beverdam, Peter Koopman, Marilyn B. Renfree, T. Kobayashi, R. Campos-Ramos, Frank Grützner, L.-T. Sun, H. Merchant-Larios, V.R. Harley, Vincent R. Harley, J.-L. Du, M. Pannetier, J. Cocquet, A. Chesnel, M.T. Ezaz, C.-L. He, R.A. Veitia, S. Kuntz, C. Murdock, I. Grillier-Vuissoz, K. Matsui, J.A. Marchal, Sabine Kelly, Andrew J Pask, Stéphane Flament, L. Yue, N. Besnard, T. Taketo, X. Xia, A. Sánchez, Mónica Bullejos, C. Boonphakdee, R. Zhou, Eric Pailhoux, Kevin Christopher Knower, Y. Guo, H. Cheng, Jo Bowles, S. Tokunaga, M.J. Acosta, Marc Fellous, S. Takada, M. Gareil, H.W. Lau, C.-F. Chang, Y.-F.C. Lau, T. Wibbels, Y. Nagahama, K. Shibata, D. Chardard, Jennifer A. Marshall Graves, Y. Li, D.R. Carvalho-Silva, C. Cotinot, Kristy M. James, L.G. Kömüves, Dagmar Wilhelm, H. Kajiura-Kobayashi, R. Díaz de la Guardia

Publikováno v: Cytogenetic and Genome Research. 101:323-324

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::66e66b60334299984ede6adf2d81d3da
https://doi.org/10.1159/000075682