Article
Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling.
Journal of molecular endocrinology - 1 Dec 2012
Hanson D, Murray P G, Coulson T, Sud A, Omokanye A, Stratta E, Sakhinia F, Bonshek C, Wilson L C, Wakeling E, Temtamy S A, Aglan M, Rosser E M, Mansour S, Carcavilla A, Nampoothiri S, Khan W I, Banerjee I, Chandler K E, Black G C M, Clayton P E
Abstract excerpt
3-M syndrome is a primordial growth disorder caused by mutations in CUL7, OBSL1 or CCDC8. 3-M patients typically have a modest response to GH treatment, but the mechanism is unknown. Our aim was to screen 13 clinically identified 3-M families for mutations, define the status of the GH-IGF axis in 3-M children and using fibroblast cell lines assess signalling responses to GH or IGF1. Eleven CUL7, three OBSL1 and...
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