Associated Papers
Functional analysis of Sonic Hedgehog variants associated with holoprosencephaly in humans using a CRISPR/Cas9 zebrafish model.
Hong S et al.
Human Mutation, 2020
Sonic Hedgehog Is a Member of the Hh/DD-Peptidase Family That Spans the Eukaryotic and Bacterial Domains of Life.
Roelink H
Journal of Developmental Biology, 2018
Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels.
Ma G et al.
Cell Research, 2011
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
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
SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activity.
Schell-Apacik C et al.
Human Genetics, 2003
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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