| http://purl.uniprot.org/citations/25063195 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/25063195 | http://www.w3.org/2000/01/rdf-schema#comment | "Holoprosencephaly is a heterogeneous developmental malformation of the central nervous system characterized by impaired forebrain cleavage, midline facial anomalies and wide phenotypic variation. Indeed, microforms represent the mildest manifestation, associated with facial anomalies but an intact central nervous system. In many cases, perturbations in sonic hedgehog signaling are responsible for holoprosencephaly. Here, we have elucidated the contribution of Gas1 and an additional hedgehog co-receptor, Boc during early development of the craniofacial midline, by generating single and compound mutant mice. Significantly, we find Boc has an essential role in the etiology of a unique form of lobar holoprosencephaly that only occurs in conjunction with combined loss of Gas1. Whilst Gas1(-/-) mice have microform holoprosencephaly characterized by a single median maxillary central incisor, cleft palate and pituitary anomalies, Boc(-/-) mice have a normal facial midline. However, Gas1(-/-); Boc(-/-) mutants have lobar holoprosencephaly associated with clefting of the lip, palate and tongue, secondary to reduced sonic hedgehog transduction in the central nervous system and face. Moreover, maxillary incisor development is severely disrupted in these mice, arresting prior to cellular differentiation as a result of apoptosis in the odontogenic epithelium. Thus, Boc and Gas1 retain an essential function in these tooth germs, independent of their role in midline development of the central nervous system and face. Collectively, this phenotype demonstrates both redundancy and individual requirements for Gas1 and Boc during sonic hedgehog transduction in the craniofacial midline and suggests BOC as a potential digenic locus for lobar holoprosencephaly in human populations."xsd:string |
| http://purl.uniprot.org/citations/25063195 | http://purl.org/dc/terms/identifier | "doi:10.1242/bio.20147989"xsd:string |
| http://purl.uniprot.org/citations/25063195 | http://purl.uniprot.org/core/author | "Seppala M."xsd:string |
| http://purl.uniprot.org/citations/25063195 | http://purl.uniprot.org/core/author | "Cobourne M.T."xsd:string |
| http://purl.uniprot.org/citations/25063195 | http://purl.uniprot.org/core/author | "Xavier G.M."xsd:string |
| http://purl.uniprot.org/citations/25063195 | http://purl.uniprot.org/core/author | "Fan C.M."xsd:string |
| http://purl.uniprot.org/citations/25063195 | http://purl.uniprot.org/core/date | "2014"xsd:gYear |
| http://purl.uniprot.org/citations/25063195 | http://purl.uniprot.org/core/name | "Biol Open"xsd:string |
| http://purl.uniprot.org/citations/25063195 | http://purl.uniprot.org/core/pages | "728-740"xsd:string |
| http://purl.uniprot.org/citations/25063195 | http://purl.uniprot.org/core/title | "Boc modifies the spectrum of holoprosencephaly in the absence of Gas1 function."xsd:string |
| http://purl.uniprot.org/citations/25063195 | http://purl.uniprot.org/core/volume | "3"xsd:string |
| http://purl.uniprot.org/citations/25063195 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/25063195 |
| http://purl.uniprot.org/citations/25063195 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/25063195 |
| http://purl.uniprot.org/uniprot/#_A0A0A6YVW7-mappedCitation-25063195 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/25063195 |
| http://purl.uniprot.org/uniprot/#_A0A0A6YVX7-mappedCitation-25063195 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/25063195 |
| http://purl.uniprot.org/uniprot/#_A0A0A6YWC4-mappedCitation-25063195 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/25063195 |
| http://purl.uniprot.org/uniprot/#_A0A0A6YWZ4-mappedCitation-25063195 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/25063195 |
| http://purl.uniprot.org/uniprot/#_A0A286YD87-mappedCitation-25063195 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/25063195 |
| http://purl.uniprot.org/uniprot/#_D3Z2P1-mappedCitation-25063195 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/25063195 |
| http://purl.uniprot.org/uniprot/#_D4Q8H8-mappedCitation-25063195 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/25063195 |
| http://purl.uniprot.org/uniprot/#_D4Q8I4-mappedCitation-25063195 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/25063195 |
| http://purl.uniprot.org/uniprot/#_A2RRI7-mappedCitation-25063195 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/25063195 |
| http://purl.uniprot.org/uniprot/#_B3GAP8-mappedCitation-25063195 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/25063195 |
| http://purl.uniprot.org/uniprot/#_A2RRI6-mappedCitation-25063195 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/25063195 |