| pubmed-article:11468686 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:11468686 | lifeskim:mentions | umls-concept:C0012634 | lld:lifeskim |
| pubmed-article:11468686 | lifeskim:mentions | umls-concept:C0205182 | lld:lifeskim |
| pubmed-article:11468686 | lifeskim:mentions | umls-concept:C0332294 | lld:lifeskim |
| pubmed-article:11468686 | lifeskim:mentions | umls-concept:C0237677 | lld:lifeskim |
| pubmed-article:11468686 | lifeskim:mentions | umls-concept:C0679622 | lld:lifeskim |
| pubmed-article:11468686 | lifeskim:mentions | umls-concept:C1879547 | lld:lifeskim |
| pubmed-article:11468686 | lifeskim:mentions | umls-concept:C0205314 | lld:lifeskim |
| pubmed-article:11468686 | lifeskim:mentions | umls-concept:C0441712 | lld:lifeskim |
| pubmed-article:11468686 | pubmed:issue | 3 | lld:pubmed |
| pubmed-article:11468686 | pubmed:dateCreated | 2001-8-2 | lld:pubmed |
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| pubmed-article:11468686 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11468686 | pubmed:abstractText | Inherited growth-hormone insensitivity (GHI) is a heterogeneous disorder that is often caused by mutations in the coding exons or flanking intronic sequences of the growth-hormone receptor gene (GHR). Here we describe a novel point mutation, in four children with GHI, that leads to activation of an intronic pseudoexon resulting in inclusion of an additional 108 nt between exons 6 and 7 in the majority of GHR transcripts. This mutation lies within the pseudoexon (A(-1)-->G(-1) at the 5' pseudoexon splice site) and, under in vitro splicing conditions, results in inclusion of the mutant pseudoexon, whereas the wild-type pseudoexon is skipped. The presence of the pseudoexon results in inclusion of an additional 36-amino acid sequence in a region of the receptor known to be involved in homo-dimerization, which is essential for signal transduction. | lld:pubmed |
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| pubmed-article:11468686 | pubmed:language | eng | lld:pubmed |
| pubmed-article:11468686 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11468686 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:11468686 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11468686 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:11468686 | pubmed:month | Sep | lld:pubmed |
| pubmed-article:11468686 | pubmed:issn | 0002-9297 | lld:pubmed |
| pubmed-article:11468686 | pubmed:author | pubmed-author:RoseS JSJ | lld:pubmed |
| pubmed-article:11468686 | pubmed:author | pubmed-author:SavageM OMO | lld:pubmed |
| pubmed-article:11468686 | pubmed:author | pubmed-author:ClarkA JAJ | lld:pubmed |
| pubmed-article:11468686 | pubmed:author | pubmed-author:ChewS LSL | lld:pubmed |
| pubmed-article:11468686 | pubmed:author | pubmed-author:CaulfieldMM | lld:pubmed |
| pubmed-article:11468686 | pubmed:author | pubmed-author:MunroeP BPB | lld:pubmed |
| pubmed-article:11468686 | pubmed:author | pubmed-author:MetherellL... | lld:pubmed |
| pubmed-article:11468686 | pubmed:author | pubmed-author:AkkerS ASA | lld:pubmed |
| pubmed-article:11468686 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:11468686 | pubmed:volume | 69 | lld:pubmed |
| pubmed-article:11468686 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:11468686 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:11468686 | pubmed:pagination | 641-6 | lld:pubmed |
| pubmed-article:11468686 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
| pubmed-article:11468686 | pubmed:meshHeading | pubmed-meshheading:11468686... | lld:pubmed |
| pubmed-article:11468686 | pubmed:meshHeading | pubmed-meshheading:11468686... | lld:pubmed |
| pubmed-article:11468686 | pubmed:meshHeading | pubmed-meshheading:11468686... | lld:pubmed |
| pubmed-article:11468686 | pubmed:meshHeading | pubmed-meshheading:11468686... | lld:pubmed |
| pubmed-article:11468686 | pubmed:meshHeading | pubmed-meshheading:11468686... | lld:pubmed |
| pubmed-article:11468686 | pubmed:meshHeading | pubmed-meshheading:11468686... | lld:pubmed |
| pubmed-article:11468686 | pubmed:meshHeading | pubmed-meshheading:11468686... | lld:pubmed |
| pubmed-article:11468686 | pubmed:meshHeading | pubmed-meshheading:11468686... | lld:pubmed |
| pubmed-article:11468686 | pubmed:year | 2001 | lld:pubmed |
| pubmed-article:11468686 | pubmed:articleTitle | Pseudoexon activation as a novel mechanism for disease resulting in atypical growth-hormone insensitivity. | lld:pubmed |
| pubmed-article:11468686 | pubmed:affiliation | Department of Chemical Endocrinology, St. Bartholomew's Hospital, London EC1A 7BE, United Kingdom. | lld:pubmed |
| pubmed-article:11468686 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:11468686 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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