Associated Papers
Highly Conserved C-Terminal Region of Indian Hedgehog N-Fragment Contributes to Its Auto-Processing and Multimer Formation.
Wang X et al.
Biomolecules, 2021
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants
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
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
Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly.
Odent S et al.
Human Molecular Genetics, 1999
Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly.
Roessler E et al.
Human Molecular Genetics, 1997
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.
Roessler E et al.
Nature Genetics, 1996
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