| pubmed-article:19200529 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:19200529 | lifeskim:mentions | umls-concept:C0019904 | lld:lifeskim |
| pubmed-article:19200529 | lifeskim:mentions | umls-concept:C0015127 | lld:lifeskim |
| pubmed-article:19200529 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:19200529 | lifeskim:mentions | umls-concept:C1314792 | lld:lifeskim |
| pubmed-article:19200529 | lifeskim:mentions | umls-concept:C1851286 | lld:lifeskim |
| pubmed-article:19200529 | lifeskim:mentions | umls-concept:C1826407 | lld:lifeskim |
| pubmed-article:19200529 | pubmed:issue | 2 | lld:pubmed |
| pubmed-article:19200529 | pubmed:dateCreated | 2009-2-13 | lld:pubmed |
| pubmed-article:19200529 | pubmed:abstractText | Ectopia lentis is a genetically heterogeneous condition that is characterized by the subluxation of the lens resulting from the disruption of the zonular fibers. Patients with ectopia lentis commonly present with a marked loss in visual acuity in addition to a number of possibly accompanying ocular complications including cataract, myopia, and retinal detachment. We here describe an isolated form of ectopia lentis in a large inbred family that shows autosomal-recessive inheritance. We map the ectopia lentis locus in this family to the pericentromeric region on chromosome 1 (1p13.2-q21.1). The linkage region contains well more than 60 genes. Mutation screening of four candidate genes revealed a homozygous nonsense mutation in exon 11 of ADAMTSL4 (p.Y595X; c.1785T-->G) in all affected individuals that is absent in 380 control chromosomes. The mutation would result in a truncated protein of half the original length, if the mRNA escapes nonsense-mediated decay. We conclude that mutations in ADAMTSL4 are responsible for autosomal-recessive simple ectopia lentis and that ADAMTS-like4 plays a role in the development and/or integrity of the zonular fibers. | lld:pubmed |
| pubmed-article:19200529 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19200529 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19200529 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19200529 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19200529 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19200529 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19200529 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19200529 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19200529 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19200529 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19200529 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19200529 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19200529 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19200529 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19200529 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19200529 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19200529 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19200529 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19200529 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19200529 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19200529 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19200529 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19200529 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19200529 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19200529 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19200529 | pubmed:language | eng | lld:pubmed |
| pubmed-article:19200529 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19200529 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:19200529 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19200529 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19200529 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19200529 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:19200529 | pubmed:month | Feb | lld:pubmed |
| pubmed-article:19200529 | pubmed:issn | 1537-6605 | lld:pubmed |
| pubmed-article:19200529 | pubmed:author | pubmed-author:ChenShanS | lld:pubmed |
| pubmed-article:19200529 | pubmed:author | pubmed-author:El-ShantiHate... | lld:pubmed |
| pubmed-article:19200529 | pubmed:author | pubmed-author:TayehMarwanM | lld:pubmed |
| pubmed-article:19200529 | pubmed:author | pubmed-author:LealSuzanneS | lld:pubmed |
| pubmed-article:19200529 | pubmed:author | pubmed-author:AhramDinaD | lld:pubmed |
| pubmed-article:19200529 | pubmed:author | pubmed-author:SatoT ShawnTS | lld:pubmed |
| pubmed-article:19200529 | pubmed:author | pubmed-author:KohilanAbdulg... | lld:pubmed |
| pubmed-article:19200529 | pubmed:author | pubmed-author:Al-SalemMahmo... | lld:pubmed |
| pubmed-article:19200529 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:19200529 | pubmed:volume | 84 | lld:pubmed |
| pubmed-article:19200529 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:19200529 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:19200529 | pubmed:pagination | 274-8 | lld:pubmed |
| pubmed-article:19200529 | pubmed:dateRevised | 2011-7-28 | lld:pubmed |
| pubmed-article:19200529 | pubmed:meshHeading | pubmed-meshheading:19200529... | lld:pubmed |
| pubmed-article:19200529 | pubmed:meshHeading | pubmed-meshheading:19200529... | lld:pubmed |
| pubmed-article:19200529 | pubmed:meshHeading | pubmed-meshheading:19200529... | lld:pubmed |
| pubmed-article:19200529 | pubmed:meshHeading | pubmed-meshheading:19200529... | lld:pubmed |
| pubmed-article:19200529 | pubmed:meshHeading | pubmed-meshheading:19200529... | lld:pubmed |
| pubmed-article:19200529 | pubmed:meshHeading | pubmed-meshheading:19200529... | lld:pubmed |
| pubmed-article:19200529 | pubmed:meshHeading | pubmed-meshheading:19200529... | lld:pubmed |
| pubmed-article:19200529 | pubmed:meshHeading | pubmed-meshheading:19200529... | lld:pubmed |
| pubmed-article:19200529 | pubmed:meshHeading | pubmed-meshheading:19200529... | lld:pubmed |
| pubmed-article:19200529 | pubmed:meshHeading | pubmed-meshheading:19200529... | lld:pubmed |
| pubmed-article:19200529 | pubmed:meshHeading | pubmed-meshheading:19200529... | lld:pubmed |
| pubmed-article:19200529 | pubmed:meshHeading | pubmed-meshheading:19200529... | lld:pubmed |
| pubmed-article:19200529 | pubmed:meshHeading | pubmed-meshheading:19200529... | lld:pubmed |
| pubmed-article:19200529 | pubmed:meshHeading | pubmed-meshheading:19200529... | lld:pubmed |
| pubmed-article:19200529 | pubmed:meshHeading | pubmed-meshheading:19200529... | lld:pubmed |
| pubmed-article:19200529 | pubmed:meshHeading | pubmed-meshheading:19200529... | lld:pubmed |
| pubmed-article:19200529 | pubmed:year | 2009 | lld:pubmed |
| pubmed-article:19200529 | pubmed:articleTitle | A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis. | lld:pubmed |
| pubmed-article:19200529 | pubmed:affiliation | Shafallah Medical Genetics Center, Doha, Qatar. | lld:pubmed |
| pubmed-article:19200529 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:19200529 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:54507 | entrezgene:pubmed | pubmed-article:19200529 | lld:entrezgene |
| http://linkedlifedata.com/r... | entrezgene:pubmed | pubmed-article:19200529 | lld:entrezgene |
| lhgdn:association:23365 | lhgdn:found_in | pubmed-article:19200529 | lld:lhgdn |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:19200529 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:19200529 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:19200529 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:19200529 | lld:pubmed |
