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Simon J. H. Heaney
Researcher at Western General Hospital
Publications - 4
Citations - 1649
Simon J. H. Heaney is an academic researcher from Western General Hospital. The author has contributed to research in topics: Preaxial polydactyly & Gene. The author has an hindex of 4, co-authored 4 publications receiving 1521 citations.
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Journal ArticleDOI
A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly
Laura A. Lettice,Simon J. H. Heaney,Lorna A. Purdie,Li Li,Philippe de Beer,Ben A. Oostra,Debbie K. Goode,Greg Elgar,Robert E. Hill,Esther de Graaff +9 more
TL;DR: It is shown that the chromosome 7q36 associated preaxial polydactyly, a frequently observed congenital limb malformation, results from point mutations in a Shh regulatory element, a regulator that lies within intron 5 of the Lmbr1 gene 1 Mb from the target gene Shh.
Journal ArticleDOI
Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly.
Laura A. Lettice,Taizo Horikoshi,Simon J. H. Heaney,Marijke J. van Baren,Herma C. van der Linde,Guido J. Breedveld,Marijke Joosse,Nurten A. Akarsu,Ben A. Oostra,Naoto Endo,Minoru Shibata,Mikio Suzuki,Ei-ichi Takahashi,Toshikatsu Shinka,Yutaka Nakahori,Dai Ayusawa,Kazuhiko Nakabayashi,Stephen W. Scherer,Peter Heutink,Robert E. Hill,Sumihare Noji +20 more
TL;DR: A translocation breakpoint in a PPD patient and a transgenic insertion site in the polydactylous mouse mutant sasquatch reveals that the Lmbr1 gene is incidental to the phenotype and that the mutation directly interrupts a cis-acting regulator of Shh, most likely the target for generating PPD mutations in human.
Journal ArticleDOI
Sonic hedgehog: restricted expression and limb dysmorphologies.
TL;DR: Analysis of mouse mutants which have polydactyly (extra toes) shows that asymmetric expression of Shh is lost due to the appearance of an ectopic domain of expression in the anterior limb margin, suggesting a major chromosomal region for limb dysmorphologies.
Journal Article
2 Preaxial polydactyly In human and mouse: regulatory anomalies in digit patterning.
TL;DR: PPD in human most likely results from similar acting mutations and supports the prospect that Shh regulatory elements underlie this complex locus and a model to explain other limb-related defects that map to this locus is presented.