| http://purl.uniprot.org/citations/21750680 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/21750680 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/21750680 | http://www.w3.org/2000/01/rdf-schema#comment | "Ophthalmo-acromelic syndrome (OAS), also known as Waardenburg Anophthalmia syndrome, is defined by the combination of eye malformations, most commonly bilateral anophthalmia, with post-axial oligosyndactyly. Homozygosity mapping and subsequent targeted mutation analysis of a locus on 14q24.2 identified homozygous mutations in SMOC1 (SPARC-related modular calcium binding 1) in eight unrelated families. Four of these mutations are nonsense, two frame-shift, and two missense. The missense mutations are both in the second Thyroglobulin Type-1 (Tg1) domain of the protein. The orthologous gene in the mouse, Smoc1, shows site- and stage-specific expression during eye, limb, craniofacial, and somite development. We also report a targeted pre-conditional gene-trap mutation of Smoc1 (Smoc1(tm1a)) that reduces mRNA to ∼10% of wild-type levels. This gene-trap results in highly penetrant hindlimb post-axial oligosyndactyly in homozygous mutant animals (Smoc1(tm1a/tm1a)). Eye malformations, most commonly coloboma, and cleft palate occur in a significant proportion of Smoc1(tm1a/tm1a) embryos and pups. Thus partial loss of Smoc-1 results in a convincing phenocopy of the human disease. SMOC-1 is one of the two mammalian paralogs of Drosophila Pentagone, an inhibitor of decapentaplegic. The orthologous gene in Xenopus laevis, Smoc-1, also functions as a Bone Morphogenic Protein (BMP) antagonist in early embryogenesis. Loss of BMP antagonism during mammalian development provides a plausible explanation for both the limb and eye phenotype in humans and mice."xsd:string |
| http://purl.uniprot.org/citations/21750680 | http://purl.org/dc/terms/identifier | "doi:10.1371/journal.pgen.1002114"xsd:string |
| http://purl.uniprot.org/citations/21750680 | http://purl.org/dc/terms/identifier | "doi:10.1371/journal.pgen.1002114"xsd:string |
| http://purl.uniprot.org/citations/21750680 | http://purl.uniprot.org/core/author | "Brunner H.G."xsd:string |
| http://purl.uniprot.org/citations/21750680 | http://purl.uniprot.org/core/author | "Brunner H.G."xsd:string |
| http://purl.uniprot.org/citations/21750680 | http://purl.uniprot.org/core/author | "Fisher M."xsd:string |
| http://purl.uniprot.org/citations/21750680 | http://purl.uniprot.org/core/author | "Fisher M."xsd:string |
| http://purl.uniprot.org/citations/21750680 | http://purl.uniprot.org/core/author | "Megarbane A."xsd:string |
| http://purl.uniprot.org/citations/21750680 | http://purl.uniprot.org/core/author | "Megarbane A."xsd:string |
| http://purl.uniprot.org/citations/21750680 | http://purl.uniprot.org/core/author | "Wieczorek D."xsd:string |
| http://purl.uniprot.org/citations/21750680 | http://purl.uniprot.org/core/author | "Wieczorek D."xsd:string |
| http://purl.uniprot.org/citations/21750680 | http://purl.uniprot.org/core/author | "Khan A."xsd:string |
| http://purl.uniprot.org/citations/21750680 | http://purl.uniprot.org/core/author | "Khan A."xsd:string |
| http://purl.uniprot.org/citations/21750680 | http://purl.uniprot.org/core/author | "Gillessen-Kaesbach G."xsd:string |
| http://purl.uniprot.org/citations/21750680 | http://purl.uniprot.org/core/author | "Gillessen-Kaesbach G."xsd:string |
| http://purl.uniprot.org/citations/21750680 | http://purl.uniprot.org/core/author | "Koenig R."xsd:string |
| http://purl.uniprot.org/citations/21750680 | http://purl.uniprot.org/core/author | "Koenig R."xsd:string |
| http://purl.uniprot.org/citations/21750680 | http://purl.uniprot.org/core/author | "Ramos L."xsd:string |
| http://purl.uniprot.org/citations/21750680 | http://purl.uniprot.org/core/author | "Ramos L."xsd:string |
| http://purl.uniprot.org/citations/21750680 | http://purl.uniprot.org/core/author | "Al-Gazali L."xsd:string |
| http://purl.uniprot.org/citations/21750680 | http://purl.uniprot.org/core/author | "Al-Gazali L."xsd:string |
| http://purl.uniprot.org/citations/21750680 | http://purl.uniprot.org/core/author | "van Bokhoven H."xsd:string |
| http://purl.uniprot.org/citations/21750680 | http://purl.uniprot.org/core/author | "van Bokhoven H."xsd:string |