| pubmed-article:21474760 | rdf:type | pubmed:Citation | lld:pubmed |
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| pubmed-article:21474760 | lifeskim:mentions | umls-concept:C1179435 | lld:lifeskim |
| pubmed-article:21474760 | lifeskim:mentions | umls-concept:C0162771 | lld:lifeskim |
| pubmed-article:21474760 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:21474760 | lifeskim:mentions | umls-concept:C0035709 | lld:lifeskim |
| pubmed-article:21474760 | lifeskim:mentions | umls-concept:C1859452 | lld:lifeskim |
| pubmed-article:21474760 | lifeskim:mentions | umls-concept:C1832361 | lld:lifeskim |
| pubmed-article:21474760 | lifeskim:mentions | umls-concept:C1705248 | lld:lifeskim |
| pubmed-article:21474760 | lifeskim:mentions | umls-concept:C0205165 | lld:lifeskim |
| pubmed-article:21474760 | lifeskim:mentions | umls-concept:C1548799 | lld:lifeskim |
| pubmed-article:21474760 | lifeskim:mentions | umls-concept:C1524073 | lld:lifeskim |
| pubmed-article:21474760 | lifeskim:mentions | umls-concept:C0449432 | lld:lifeskim |
| pubmed-article:21474760 | pubmed:issue | 6026 | lld:pubmed |
| pubmed-article:21474760 | pubmed:dateCreated | 2011-4-8 | lld:pubmed |
| pubmed-article:21474760 | pubmed:abstractText | Small nuclear RNAs (snRNAs) are essential factors in messenger RNA splicing. By means of homozygosity mapping and deep sequencing, we show that a gene encoding U4atac snRNA, a component of the minor U12-dependent spliceosome, is mutated in individuals with microcephalic osteodysplastic primordial dwarfism type I (MOPD I), a severe developmental disorder characterized by extreme intrauterine growth retardation and multiple organ abnormalities. Functional assays showed that mutations (30G>A, 51G>A, 55G>A, and 111G>A) associated with MOPD I cause defective U12-dependent splicing. Endogenous U12-dependent but not U2-dependent introns were found to be poorly spliced in MOPD I patient fibroblast cells. The introduction of wild-type U4atac snRNA into MOPD I cells enhanced U12-dependent splicing. These results illustrate the critical role of minor intron splicing in human development. | lld:pubmed |
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| pubmed-article:21474760 | pubmed:language | eng | lld:pubmed |
| pubmed-article:21474760 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:21474760 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:21474760 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:21474760 | pubmed:month | Apr | lld:pubmed |
| pubmed-article:21474760 | pubmed:issn | 1095-9203 | lld:pubmed |
| pubmed-article:21474760 | pubmed:author | pubmed-author:FuY PYP | lld:pubmed |
| pubmed-article:21474760 | pubmed:author | pubmed-author:WestmanJudith... | lld:pubmed |
| pubmed-article:21474760 | pubmed:author | pubmed-author:WangHengH | lld:pubmed |
| pubmed-article:21474760 | pubmed:author | pubmed-author:AkagiKeikoK | lld:pubmed |
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| pubmed-article:21474760 | pubmed:author | pubmed-author:LiJingfengJ | lld:pubmed |
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| pubmed-article:21474760 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:21474760 | pubmed:day | 8 | lld:pubmed |
| pubmed-article:21474760 | pubmed:volume | 332 | lld:pubmed |
| pubmed-article:21474760 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:21474760 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:21474760 | pubmed:pagination | 238-40 | lld:pubmed |
| pubmed-article:21474760 | pubmed:dateRevised | 2011-6-13 | lld:pubmed |
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| pubmed-article:21474760 | pubmed:year | 2011 | lld:pubmed |
| pubmed-article:21474760 | pubmed:articleTitle | Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I. | lld:pubmed |
| pubmed-article:21474760 | pubmed:affiliation | Human Cancer Genetics Program, Ohio State University, Columbus, OH 43210, USA. | lld:pubmed |
| pubmed-article:21474760 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:21474760 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| pubmed-article:21474760 | pubmed:publicationType | Research Support, N.I.H., Extramural | lld:pubmed |
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