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Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling.
Hanson D, Murray PG, Coulson T, Sud A, Omokanye A, Stratta E, Sakhinia F, Bonshek C, Wilson LC, Wakeling E, Temtamy SA, Aglan M, Rosser EM, Mansour S, Carcavilla A, Nampoothiri S, Khan WI, Banerjee I, Chandler KE, Black GC, Clayton PE. Hanson D, et al. J Mol Endocrinol. 2012 Oct 30;49(3):267-75. doi: 10.1530/JME-12-0034. Print 2012 Dec. J Mol Endocrinol. 2012. PMID: 23018678
Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth.
Hanson D, Murray PG, O'Sullivan J, Urquhart J, Daly S, Bhaskar SS, Biesecker LG, Skae M, Smith C, Cole T, Kirk J, Chandler K, Kingston H, Donnai D, Clayton PE, Black GC. Hanson D, et al. Am J Hum Genet. 2011 Jul 15;89(1):148-53. doi: 10.1016/j.ajhg.2011.05.028. Epub 2011 Jul 7. Am J Hum Genet. 2011. PMID: 21737058 Free PMC article.
Network analysis: a new approach to study endocrine disorders.
Stevens A, De Leonibus C, Hanson D, Dowsey AW, Whatmore A, Meyer S, Donn RP, Chatelain P, Banerjee I, Cosgrove KE, Clayton PE, Dunne MJ. Stevens A, et al. Among authors: hanson d. J Mol Endocrinol. 2013 Dec 19;52(1):R79-93. doi: 10.1530/JME-13-0112. Print 2014 Feb. J Mol Endocrinol. 2013. PMID: 24085748 Review.
3-M syndrome: a growth disorder associated with IGF2 silencing.
Murray PG, Hanson D, Coulson T, Stevens A, Whatmore A, Poole RL, Mackay DJ, Black GC, Clayton PE. Murray PG, et al. Among authors: hanson d. Endocr Connect. 2013 Nov 11;2(4):225-35. doi: 10.1530/EC-13-0065. Print 2013. Endocr Connect. 2013. PMID: 24148222 Free PMC article.
884 results