Associated Papers
Gain-of-function Shh mutants activate Smo cell-autonomously independent of Ptch1/2 function.
Casillas C et al.
Mechanisms of Development, 2018
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
Molecular analysis of holoprosencephaly in South America.
Savastano CP et al.
Genetics and Molecular Biology, 2014
Unique alterations of an ultraconserved non-coding element in the 3'UTR of ZIC2 in holoprosencephaly.
Roessler E et al.
Plos One, 2012
22859937 (PubMed )
Supplement: pone.0039026.s005.doc
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
Single median maxillary central incisor: new data and mutation review.
El-Jaick KB et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2007
Functional characterization of sonic hedgehog mutations associated with holoprosencephaly.
Traiffort E et al.
The Journal of Biological Chemistry, 2004
Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips.
Hellemans J et al.
American Journal of Human Genetics, 2003
Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly.
Orioli IM et al.
Human Genetics, 2001
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