| http://purl.uniprot.org/citations/26490391 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/26490391 | http://www.w3.org/2000/01/rdf-schema#comment | "The regulators of complement activation cluster at chromosome 1q32 contains the complement factor H (CFH) and five complement factor H-related (CFHR) genes. This area of the genome arose from several large genomic duplications, and these low-copy repeats can cause genome instability in this region. Genomic disorders affecting these genes have been described in atypical hemolytic uremic syndrome, arising commonly through nonallelic homologous recombination. We describe a novel CFH/CFHR3 hybrid gene secondary to a de novo 6.3-kb deletion that arose through microhomology-mediated end joining rather than nonallelic homologous recombination. We confirmed a transcript from this hybrid gene and showed a secreted protein product that lacks the recognition domain of factor H and exhibits impaired cell surface complement regulation. The fact that the formation of this hybrid gene arose as a de novo event suggests that this cluster is a dynamic area of the genome in which additional genomic disorders may arise."xsd:string |
| http://purl.uniprot.org/citations/26490391 | http://purl.org/dc/terms/identifier | "doi:10.1681/asn.2015010100"xsd:string |
| http://purl.uniprot.org/citations/26490391 | http://purl.uniprot.org/core/author | "Harris C.L."xsd:string |
| http://purl.uniprot.org/citations/26490391 | http://purl.uniprot.org/core/author | "Morgan B.P."xsd:string |
| http://purl.uniprot.org/citations/26490391 | http://purl.uniprot.org/core/author | "Marchbank K.J."xsd:string |
| http://purl.uniprot.org/citations/26490391 | http://purl.uniprot.org/core/author | "Kavanagh D."xsd:string |
| http://purl.uniprot.org/citations/26490391 | http://purl.uniprot.org/core/author | "Anderson H.E."xsd:string |
| http://purl.uniprot.org/citations/26490391 | http://purl.uniprot.org/core/author | "Goodship T.H."xsd:string |
| http://purl.uniprot.org/citations/26490391 | http://purl.uniprot.org/core/author | "Strain L."xsd:string |
| http://purl.uniprot.org/citations/26490391 | http://purl.uniprot.org/core/author | "Challis R.C."xsd:string |
| http://purl.uniprot.org/citations/26490391 | http://purl.uniprot.org/core/author | "Wilson V."xsd:string |
| http://purl.uniprot.org/citations/26490391 | http://purl.uniprot.org/core/author | "Brocklebank V."xsd:string |
| http://purl.uniprot.org/citations/26490391 | http://purl.uniprot.org/core/author | "Araujo G.S."xsd:string |
| http://purl.uniprot.org/citations/26490391 | http://purl.uniprot.org/core/author | "Awan A."xsd:string |
| http://purl.uniprot.org/citations/26490391 | http://purl.uniprot.org/core/author | "Waldron M."xsd:string |
| http://purl.uniprot.org/citations/26490391 | http://purl.uniprot.org/core/author | "Dorman A.M."xsd:string |
| http://purl.uniprot.org/citations/26490391 | http://purl.uniprot.org/core/author | "Wong E.K."xsd:string |
| http://purl.uniprot.org/citations/26490391 | http://purl.uniprot.org/core/date | "2016"xsd:gYear |
| http://purl.uniprot.org/citations/26490391 | http://purl.uniprot.org/core/name | "J Am Soc Nephrol"xsd:string |
| http://purl.uniprot.org/citations/26490391 | http://purl.uniprot.org/core/pages | "1617-1624"xsd:string |
| http://purl.uniprot.org/citations/26490391 | http://purl.uniprot.org/core/title | "A De Novo Deletion in the Regulators of Complement Activation Cluster Producing a Hybrid Complement Factor H/Complement Factor H-Related 3 Gene in Atypical Hemolytic Uremic Syndrome."xsd:string |
| http://purl.uniprot.org/citations/26490391 | http://purl.uniprot.org/core/volume | "27"xsd:string |
| http://purl.uniprot.org/citations/26490391 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/26490391 |
| http://purl.uniprot.org/citations/26490391 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/26490391 |