MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus.

by Patricia Blanchet, Martina Bebin, Shaam Bruet, Gregory M Cooper, Michelle L Thompson, Benedicte Duban-Bedu, Benedicte Gerard, Amelie Piton, Sylvie Suckno, Charu Deshpande, Virginia Clowes, Julie Vogt, Peter Turnpenny, Michael P Williamson, Yves Alembik, Clinical Sequencing Exploratory Research Study Consortium, Deciphering Developmental Disorders Consortium, Eric Glasgow, Alisdair McNeill
Published 2017-08-01

The rs10993994 risk allele for prostate cancer results in clinically relevant changes in microseminoprotein-beta expression in tissue and urine.

by Hayley C Whitaker, Zsofia Kote-Jarai, Helen Ross-Adams, Anne Y Warren, Johanna Burge, Anne George, Elizabeth Bancroft, Sameer Jhavar, Daniel Leongamornlert, Malgorzata Tymrakiewicz, Edward Saunders, Elizabeth Page, Anita Mitra, Gillian Mitchell, Geoffrey J Lindeman, D Gareth Evans, Ignacio Blanco, Catherine Mercer, Wendy S Rubinstein, Virginia Clowes, Fiona Douglas, Shirley Hodgson, Lisa Walker, Alan Donaldson, Louise Izatt, Huw Dorkins, Alison Male, Kathy Tucker, Alan Stapleton, Jimmy Lam, Judy Kirk, Hans Lilja, Douglas Easton, IMPACT Study Steering Committee, IMPACT Study Collaborators, UK GPCS Collaborators, Colin Cooper, Rosalind Eeles, David E Neal
Published 2010-10-01