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Many faces of SMCHD1.

Andrew O M Wilkie
Published in: Nature genetics (2017)
The chromatin scaffolding protein SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1) was previously shown to have diverse roles in X-chromosome inactivation, imprinting and double-strand break repair, and mutations in SMCHD1 contribute to a type of muscular dystrophy. Now, development of the nose and eyes is added to its list of functions.
Keyphrases
  • muscular dystrophy
  • duchenne muscular dystrophy
  • dna damage
  • gene expression
  • optical coherence tomography
  • transcription factor
  • genome wide
  • copy number
  • amino acid
  • small molecule
  • solid state