检索结果 - Dan Hanson
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The Primordial Growth Disorder 3-M Syndrome Connects Ubiquitination to the Cytoskeletal Adaptor OBSL1 由 Dan Hanson, Philip Murray, Amit Sud, Samia A. Temtamy, Mona Aglan, Andrea Superti‐Furga, Sue Holder, Jill Urquhart, Emma Hilton, Forbes D.C. Manson, Peter Scambler, Graeme Black, Peter Clayton
出版 2009Artigo -
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Exome Sequencing Identifies CCDC8 Mutations in 3-M Syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth 由 Dan Hanson, Philip Murray, James O’Sullivan, Jill Urquhart, Sarah B. Daly, Sanjeev S. Bhaskar, Leslie G. Biesecker, Mars Skae, Claire E. L. Smith, Trevor Cole, Jeremy Kirk, Kate Chandler, Helen Kingston, Dian Donnai, Peter Clayton, Graeme Black
出版 2011Artigo -
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An<i>XRCC4</i>Splice Mutation Associated With Severe Short Stature, Gonadal Failure, and Early-Onset Metabolic Syndrome 由 Christiaan de Bruin, Verónica Mericq, Shayne F. Andrew, Hermine A. van Duyvenvoorde, Nicole S. Verkaik, Monique Losekoot, Aleksey Porollo, Hernán García, Yi Kuang, Dan Hanson, Peter Clayton, Dik C. van Gent, Jan M. Wit, Vivian Hwa, Andrew Dauber
出版 2015Artigo -
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Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling 由 Dan Hanson, Philip Murray, Tessa Coulson, Amit Sud, Ajibola Omokanye, Emily Stratta, Faezeh Sakhinia, C Bonshek, Laura C. Wilson, Emma Wakeling, Samia A. Temtamy, Mona Aglan, Elisabeth Rosser, Sahar Mansour, Atilano Carcavilla, Sheela Nampoothiri, Waqas Khan, Indraneel Banerjee, Kate Chandler, Graeme Black, Peter Clayton
出版 2012Artigo
相关主题
Biology
Gene
Genetics
Mutation
Cell biology
Biochemistry
Cell
Endocrinology
Exome sequencing
Internal medicine
Medicine
Short stature
Ubiquitin
Apoptosis
Bioinformatics
Biophysics
Cancer research
Candidate gene
Cell adhesion
Cell growth
Chemistry
Cytoskeleton
Downregulation and upregulation
Dwarfism
Exome
FERM domain
Failure to thrive
Focal adhesion
Gene knockdown
Immunoprecipitation