Results

RDF/XMLNTriplesTurtleShow queryShare ▶
SubjectPredicateObject
http://purl.uniprot.org/citations/34425670http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/34425670http://www.w3.org/2000/01/rdf-schema#comment"

Background

familial hypercholesterolemia (FH), a hereditary disorder, is caused by pathogenic variants in the LDLR, APOB, and PCSK9 genes. This study has assessed genetic variants in a family, clinically diagnosed with FH.

Methods

A family was recruited from MASHAD study in Iran with possible FH based on the Simon Broom criteria. The DNA sample of an affected individual (proband) was analyzed using whole exome sequencing, followed by bioinformatics and segregation analyses.

Results

A novel splice site variant (c.345-2A>G) was detected in the LDLRAP1 gene, which was segregated in all affected family members. Moreover, HMGCR rs3846662 g.23092A>G was found to be homozygous (G/G) in the proband, probably leading to reduced response to simvastatin and pravastatin.

Conclusion

LDLRAP1 c.345-2A>G could alter the phosphotyrosine-binding domain, which acts as an important part of biological pathways related to lipid metabolism."xsd:string
http://purl.uniprot.org/citations/34425670http://purl.org/dc/terms/identifier"doi:10.52547/ibj.25.5.374"xsd:string
http://purl.uniprot.org/citations/34425670http://purl.uniprot.org/core/author"Ghazizadeh H."xsd:string
http://purl.uniprot.org/citations/34425670http://purl.uniprot.org/core/author"Ahangari N."xsd:string
http://purl.uniprot.org/citations/34425670http://purl.uniprot.org/core/author"Esmaeili H."xsd:string
http://purl.uniprot.org/citations/34425670http://purl.uniprot.org/core/author"Ebrahim M."xsd:string
http://purl.uniprot.org/citations/34425670http://purl.uniprot.org/core/author"Pasdar A."xsd:string
http://purl.uniprot.org/citations/34425670http://purl.uniprot.org/core/author"Sahebkar A."xsd:string
http://purl.uniprot.org/citations/34425670http://purl.uniprot.org/core/author"Azimi-Nezhad M."xsd:string
http://purl.uniprot.org/citations/34425670http://purl.uniprot.org/core/author"Ferns G.A."xsd:string
http://purl.uniprot.org/citations/34425670http://purl.uniprot.org/core/author"Moohebati M."xsd:string
http://purl.uniprot.org/citations/34425670http://purl.uniprot.org/core/author"Ghayour Mobarhan M."xsd:string
http://purl.uniprot.org/citations/34425670http://purl.uniprot.org/core/date"2021"xsd:gYear
http://purl.uniprot.org/citations/34425670http://purl.uniprot.org/core/name"Iran Biomed J"xsd:string
http://purl.uniprot.org/citations/34425670http://purl.uniprot.org/core/pages"374-379"xsd:string
http://purl.uniprot.org/citations/34425670http://purl.uniprot.org/core/title"A Novel Splice Site Variant in the LDLRAP1 Gene Causes Familial Hypercholesterolemia."xsd:string
http://purl.uniprot.org/citations/34425670http://purl.uniprot.org/core/volume"25"xsd:string
http://purl.uniprot.org/citations/34425670http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/34425670
http://purl.uniprot.org/citations/34425670http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/34425670
http://purl.uniprot.org/uniprot/#_B3KR97-mappedCitation-34425670http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/34425670
http://purl.uniprot.org/uniprot/#_Q5SW96-mappedCitation-34425670http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/34425670
http://purl.uniprot.org/uniprot/#_Q9H7R8-mappedCitation-34425670http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/34425670
http://purl.uniprot.org/uniprot/Q9H7R8http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/34425670
http://purl.uniprot.org/uniprot/B3KR97http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/34425670
▶