Associated Papers
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.
Solomon BD et al.
Journal of Medical Genetics, 2012
Pseudo-active sites of protease domains: HGF/Met and Sonic hedgehog signaling in cancer.
Maun HR et al.
Biological Chemistry, 2010
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.
Roessler E et al.
Human Mutation, 2009
Sonic hedgehog mutations identified in holoprosencephaly patients can act in a dominant negative manner.
Singh S et al.
Human Genetics, 2009
The mode of Hedgehog binding to Ihog homologues is not conserved across different phyla.
McLellan JS et al.
Nature, 2008
Holoprosencephaly: clinical, anatomic, and molecular dimensions.
Cohen MM
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2006
Molecular mechanisms of Sonic hedgehog mutant effects in holoprosencephaly.
Maity T et al.
Proceedings of the National Academy of Sciences of the United States of America, 2005
Functional characterization of sonic hedgehog mutations associated with holoprosencephaly.
Traiffort E et al.
The Journal of Biological Chemistry, 2004
Extreme variability of expression of a Sonic Hedgehog mutation: attention difficulties and holoprosencephaly.
Heussler HS et al.
Archives of Disease in Childhood, 2002
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