The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.

@article{Roessler2009TheMS,
  title={The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.},
  author={Erich Roessler and K{\^e}nia Balbi El-Jaick and Christ{\'e}le Dubourg and Jorge Iv{\'a}n V{\'e}lez and Benjamin D Solomon and Daniel E Pineda-Alvarez and Felicitas L. Lacbawan and Nan Zhou and Maia V. Ouspenskaia and Aim{\'e}e Paulussen and Hubert J. M. Smeets and Ute Hehr and Claude Bendavid and Sherri Bale and Sylvie Odent and V{\'e}ronique David and Maximilian Muenke},
  journal={Human mutation},
  year={2009},
  volume={30 10},
  pages={E921-35}
}
Mutations within either the SHH gene or its related pathway components are the most common, and best understood, pathogenetic changes observed in holoprosencephaly patients; this fact is consistent with the essential functions of this gene during forebrain development and patterning. Here we summarize the nature and types of deleterious sequence alterations among over one hundred distinct mutations in the SHH gene (64 novel mutations) and compare these to over a dozen mutations in disease… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 34 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 65 references

Similar Papers

Loading similar papers…