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Identifying biological pathways that underlie primordial short stature using network analysis

7 Apr 2014

Abstract excerpt

Mutations in CUL7, OBSL1 and CCDC8, leading to disordered ubiquitination, cause one of the commonest primordial growth disorders, 3-M syndrome. This condition is associated with i) abnormal p53 function, ii) GH and/or IGF1 resistance, which may relate to failure to recycle signalling molecules, and iii) cellular IGF2 deficiency. However the exact molecular mechanisms that may link these abnormalities generating...

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PMID: 24711643
DOI: 10.1530/jme-14-0029

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Identifying biological pathways that underlie primordial short stature using network analysisPMID 24711643Read ↗

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