| http://purl.uniprot.org/citations/21426410 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/21426410 | http://www.w3.org/2000/01/rdf-schema#comment | "Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome is an X-linked genodermatosis with congenital atrichia being the most prominent feature. Recently, we have shown that functional deficiency of MBTPS2 (membrane-bound transcription factor protease site 2) - a zinc metalloprotease essential for cholesterol homeostasis and endoplasmic reticulum stress response - causes the disease. Here, we present results obtained by analysing two intronic MBTPS2 mutations, c.671-9T>G and c.225-6T>A, using in silico and cell-based splicing assays. Accordingly, the c.225-6T>A transversion generated a new splice acceptor site, which caused extension of exon 3 by four bases and subsequently introduced a premature stop codon. Both, minigene experiments and RT-PCR analysis with patient-derived mRNA, demonstrated that the c.671-9T>G mutation resulted in skipping of exon 6, most likely because of disruption of the polypyrimidin tract or a putative intronic splicing enhancer (ISE). Our combined biocomputational and experimental analysis strongly suggested that both intronic alterations are disease-causing mutations."xsd:string |
| http://purl.uniprot.org/citations/21426410 | http://purl.org/dc/terms/identifier | "doi:10.1111/j.1600-0625.2010.01238.x"xsd:string |
| http://purl.uniprot.org/citations/21426410 | http://purl.uniprot.org/core/author | "Martinez F."xsd:string |
| http://purl.uniprot.org/citations/21426410 | http://purl.uniprot.org/core/author | "Monfort S."xsd:string |
| http://purl.uniprot.org/citations/21426410 | http://purl.uniprot.org/core/author | "Oltra S."xsd:string |
| http://purl.uniprot.org/citations/21426410 | http://purl.uniprot.org/core/author | "Grzeschik K.H."xsd:string |
| http://purl.uniprot.org/citations/21426410 | http://purl.uniprot.org/core/author | "Oeffner F."xsd:string |
| http://purl.uniprot.org/citations/21426410 | http://purl.uniprot.org/core/author | "Bornholdt D."xsd:string |
| http://purl.uniprot.org/citations/21426410 | http://purl.uniprot.org/core/author | "Happle R."xsd:string |
| http://purl.uniprot.org/citations/21426410 | http://purl.uniprot.org/core/author | "Konig A."xsd:string |
| http://purl.uniprot.org/citations/21426410 | http://purl.uniprot.org/core/author | "Salhi A."xsd:string |
| http://purl.uniprot.org/citations/21426410 | http://purl.uniprot.org/core/author | "Neidel U."xsd:string |
| http://purl.uniprot.org/citations/21426410 | http://purl.uniprot.org/core/author | "Schaffer J."xsd:string |
| http://purl.uniprot.org/citations/21426410 | http://purl.uniprot.org/core/author | "van Bon B."xsd:string |
| http://purl.uniprot.org/citations/21426410 | http://purl.uniprot.org/core/date | "2011"xsd:gYear |
| http://purl.uniprot.org/citations/21426410 | http://purl.uniprot.org/core/name | "Exp Dermatol"xsd:string |
| http://purl.uniprot.org/citations/21426410 | http://purl.uniprot.org/core/pages | "447-449"xsd:string |
| http://purl.uniprot.org/citations/21426410 | http://purl.uniprot.org/core/title | "Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome."xsd:string |
| http://purl.uniprot.org/citations/21426410 | http://purl.uniprot.org/core/volume | "20"xsd:string |
| http://purl.uniprot.org/citations/21426410 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/21426410 |
| http://purl.uniprot.org/citations/21426410 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/21426410 |
| http://purl.uniprot.org/uniprot/#_A8KA68-mappedCitation-21426410 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/21426410 |
| http://purl.uniprot.org/uniprot/#_O43462-mappedCitation-21426410 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/21426410 |
| http://purl.uniprot.org/uniprot/A8KA68 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/21426410 |