| pubmed-article:10668928 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:10668928 | lifeskim:mentions | umls-concept:C0019425 | lld:lifeskim |
| pubmed-article:10668928 | lifeskim:mentions | umls-concept:C0034821 | lld:lifeskim |
| pubmed-article:10668928 | lifeskim:mentions | umls-concept:C0205145 | lld:lifeskim |
| pubmed-article:10668928 | lifeskim:mentions | umls-concept:C0020443 | lld:lifeskim |
| pubmed-article:10668928 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:10668928 | lifeskim:mentions | umls-concept:C1335671 | lld:lifeskim |
| pubmed-article:10668928 | lifeskim:mentions | umls-concept:C1547564 | lld:lifeskim |
| pubmed-article:10668928 | pubmed:issue | 5 | lld:pubmed |
| pubmed-article:10668928 | pubmed:dateCreated | 2000-2-25 | lld:pubmed |
| pubmed-article:10668928 | pubmed:abstractText | In the present study, we have characterized a unique splice donor G to A substitution in the moderately conserved + 5 position in intron 10 of the low-density lipoprotein (LDL) receptor gene. In two Danish families, carriers of the 1592 + 5G --> A mutation display a clinical phenotype ranging from healthy normocholesterolemic persons to classical heterozygous familial hypercholesterolemia (FH) patients. Reverse transcription-polymerase chain reaction (RT-PCR) of RNA from Epstein Barr virus (EBV)-transformed lymphoblasts obtained from members of both families demonstrated abnormal splicing generating two aberrant mRNAs due to either alternative splicing and skipping of exon 10 or activation of a cryptic splice site in intron 10 inserting 66 intronic base pairs. These abnormally spliced mRNAs were predicted to encode two abnormal receptor proteins containing an in-frame deletion of 75 amino acids and an insertion of 22 novel amino acids, respectively. Results obtained by immunofluorescence staining, flow cytometry, and confocal microscopy of transfected Chang and COS-7 cells expressing normal and mutant LDL receptors were compatible with nearly complete retention of the mutant proteins in the endoplasmic reticulum. Quantitative measurements of LDL receptor mRNAs from EBV-transformed lymphoblasts, however, did not reveal any significant differences in variant mRNA contents between mutation carriers in the families that could be related to degree of hypercholesterolemia. | lld:pubmed |
| pubmed-article:10668928 | pubmed:language | eng | lld:pubmed |
| pubmed-article:10668928 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10668928 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:10668928 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10668928 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10668928 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:10668928 | pubmed:month | Nov | lld:pubmed |
| pubmed-article:10668928 | pubmed:issn | 0009-9163 | lld:pubmed |
| pubmed-article:10668928 | pubmed:author | pubmed-author:FaergemanOO | lld:pubmed |
| pubmed-article:10668928 | pubmed:author | pubmed-author:BolundLL | lld:pubmed |
| pubmed-article:10668928 | pubmed:author | pubmed-author:GregersenNN | lld:pubmed |
| pubmed-article:10668928 | pubmed:author | pubmed-author:JensenH KHK | lld:pubmed |
| pubmed-article:10668928 | pubmed:author | pubmed-author:KølvraaSS | lld:pubmed |
| pubmed-article:10668928 | pubmed:author | pubmed-author:LarsenM LML | lld:pubmed |
| pubmed-article:10668928 | pubmed:author | pubmed-author:AndreasenP... | lld:pubmed |
| pubmed-article:10668928 | pubmed:author | pubmed-author:HansenP SPS | lld:pubmed |
| pubmed-article:10668928 | pubmed:author | pubmed-author:JensenL GLG | lld:pubmed |
| pubmed-article:10668928 | pubmed:author | pubmed-author:HolstH UHU | lld:pubmed |
| pubmed-article:10668928 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:10668928 | pubmed:volume | 56 | lld:pubmed |
| pubmed-article:10668928 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:10668928 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:10668928 | pubmed:pagination | 378-88 | lld:pubmed |
| pubmed-article:10668928 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
| pubmed-article:10668928 | pubmed:meshHeading | pubmed-meshheading:10668928... | lld:pubmed |
| pubmed-article:10668928 | pubmed:meshHeading | pubmed-meshheading:10668928... | lld:pubmed |
| pubmed-article:10668928 | pubmed:meshHeading | pubmed-meshheading:10668928... | lld:pubmed |
| pubmed-article:10668928 | pubmed:meshHeading | pubmed-meshheading:10668928... | lld:pubmed |
| pubmed-article:10668928 | pubmed:meshHeading | pubmed-meshheading:10668928... | lld:pubmed |
| pubmed-article:10668928 | pubmed:meshHeading | pubmed-meshheading:10668928... | lld:pubmed |
| pubmed-article:10668928 | pubmed:meshHeading | pubmed-meshheading:10668928... | lld:pubmed |
| pubmed-article:10668928 | pubmed:meshHeading | pubmed-meshheading:10668928... | lld:pubmed |
| pubmed-article:10668928 | pubmed:meshHeading | pubmed-meshheading:10668928... | lld:pubmed |
| pubmed-article:10668928 | pubmed:meshHeading | pubmed-meshheading:10668928... | lld:pubmed |
| pubmed-article:10668928 | pubmed:meshHeading | pubmed-meshheading:10668928... | lld:pubmed |
| pubmed-article:10668928 | pubmed:meshHeading | pubmed-meshheading:10668928... | lld:pubmed |
| pubmed-article:10668928 | pubmed:meshHeading | pubmed-meshheading:10668928... | lld:pubmed |
| pubmed-article:10668928 | pubmed:meshHeading | pubmed-meshheading:10668928... | lld:pubmed |
| pubmed-article:10668928 | pubmed:meshHeading | pubmed-meshheading:10668928... | lld:pubmed |
| pubmed-article:10668928 | pubmed:meshHeading | pubmed-meshheading:10668928... | lld:pubmed |
| pubmed-article:10668928 | pubmed:meshHeading | pubmed-meshheading:10668928... | lld:pubmed |
| pubmed-article:10668928 | pubmed:meshHeading | pubmed-meshheading:10668928... | lld:pubmed |
| pubmed-article:10668928 | pubmed:meshHeading | pubmed-meshheading:10668928... | lld:pubmed |
| pubmed-article:10668928 | pubmed:year | 1999 | lld:pubmed |
| pubmed-article:10668928 | pubmed:articleTitle | Normolipidemia and hypercholesterolemia in persons heterozygous for the same 1592 + 5G --> A splice site mutation in the low-density lipoprotein receptor gene. | lld:pubmed |
| pubmed-article:10668928 | pubmed:affiliation | Department of Medicine and Cardiology, Aarhus Amtssygehus University Hospital, Denmark. hkjensen@dadlnet.dk | lld:pubmed |
| pubmed-article:10668928 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:10668928 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
