| http://purl.uniprot.org/citations/24781087 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/24781087 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/24781087 | http://www.w3.org/2000/01/rdf-schema#comment | "Athelia is a very rare entity that is defined by the absence of the nipple-areola complex. It can affect either sex and is mostly part of syndromes including other congenital or ectodermal anomalies, such as limb-mammary syndrome, scalp-ear-nipple syndrome, or ectodermal dysplasias. Here, we report on three children from two branches of an extended consanguineous Israeli Arab family, a girl and two boys, who presented with a spectrum of nipple anomalies ranging from unilateral hypothelia to bilateral athelia but no other consistently associated anomalies except a characteristic eyebrow shape. Using homozygosity mapping after single nucleotide polymorphism (SNP) array genotyping and candidate gene sequencing we identified a homozygous frameshift mutation in PTPRF as the likely cause of nipple anomalies in this family. PTPRF encodes a receptor-type protein phosphatase that localizes to adherens junctions and may be involved in the regulation of epithelial cell-cell contacts, peptide growth factor signaling, and the canonical Wnt pathway. Together with previous reports on female mutant Ptprf mice, which have a lactation defect, and disruption of one allele of PTPRF by a balanced translocation in a woman with amastia, our results indicate a key role for PTPRF in the development of the nipple-areola region."xsd:string |
| http://purl.uniprot.org/citations/24781087 | http://purl.org/dc/terms/identifier | "doi:10.1007/s00439-014-1445-1"xsd:string |
| http://purl.uniprot.org/citations/24781087 | http://purl.org/dc/terms/identifier | "doi:10.1007/s00439-014-1445-1"xsd:string |
| http://purl.uniprot.org/citations/24781087 | http://purl.uniprot.org/core/author | "Wieczorek D."xsd:string |
| http://purl.uniprot.org/citations/24781087 | http://purl.uniprot.org/core/author | "Wieczorek D."xsd:string |
| http://purl.uniprot.org/citations/24781087 | http://purl.uniprot.org/core/author | "de Vries L."xsd:string |
| http://purl.uniprot.org/citations/24781087 | http://purl.uniprot.org/core/author | "de Vries L."xsd:string |
| http://purl.uniprot.org/citations/24781087 | http://purl.uniprot.org/core/author | "Nurnberg G."xsd:string |
| http://purl.uniprot.org/citations/24781087 | http://purl.uniprot.org/core/author | "Nurnberg G."xsd:string |
| http://purl.uniprot.org/citations/24781087 | http://purl.uniprot.org/core/author | "Nurnberg P."xsd:string |
| http://purl.uniprot.org/citations/24781087 | http://purl.uniprot.org/core/author | "Nurnberg P."xsd:string |
| http://purl.uniprot.org/citations/24781087 | http://purl.uniprot.org/core/author | "Foley J."xsd:string |
| http://purl.uniprot.org/citations/24781087 | http://purl.uniprot.org/core/author | "Foley J."xsd:string |
| http://purl.uniprot.org/citations/24781087 | http://purl.uniprot.org/core/author | "Basel-Vanagaite L."xsd:string |
| http://purl.uniprot.org/citations/24781087 | http://purl.uniprot.org/core/author | "Basel-Vanagaite L."xsd:string |
| http://purl.uniprot.org/citations/24781087 | http://purl.uniprot.org/core/author | "Kubisch C."xsd:string |
| http://purl.uniprot.org/citations/24781087 | http://purl.uniprot.org/core/author | "Kubisch C."xsd:string |
| http://purl.uniprot.org/citations/24781087 | http://purl.uniprot.org/core/author | "Lagovsky I."xsd:string |
| http://purl.uniprot.org/citations/24781087 | http://purl.uniprot.org/core/author | "Lagovsky I."xsd:string |
| http://purl.uniprot.org/citations/24781087 | http://purl.uniprot.org/core/author | "Smirin-Yosef P."xsd:string |
| http://purl.uniprot.org/citations/24781087 | http://purl.uniprot.org/core/author | "Smirin-Yosef P."xsd:string |
| http://purl.uniprot.org/citations/24781087 | http://purl.uniprot.org/core/author | "Borck G."xsd:string |
| http://purl.uniprot.org/citations/24781087 | http://purl.uniprot.org/core/author | "Borck G."xsd:string |