| pubmed-article:18515178 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:18515178 | lifeskim:mentions | umls-concept:C0007226 | lld:lifeskim |
| pubmed-article:18515178 | lifeskim:mentions | umls-concept:C0035647 | lld:lifeskim |
| pubmed-article:18515178 | lifeskim:mentions | umls-concept:C0030193 | lld:lifeskim |
| pubmed-article:18515178 | lifeskim:mentions | umls-concept:C0547040 | lld:lifeskim |
| pubmed-article:18515178 | lifeskim:mentions | umls-concept:C1415012 | lld:lifeskim |
| pubmed-article:18515178 | lifeskim:mentions | umls-concept:C1882417 | lld:lifeskim |
| pubmed-article:18515178 | lifeskim:mentions | umls-concept:C1709059 | lld:lifeskim |
| pubmed-article:18515178 | lifeskim:mentions | umls-concept:C0814931 | lld:lifeskim |
| pubmed-article:18515178 | pubmed:issue | 3 | lld:pubmed |
| pubmed-article:18515178 | pubmed:dateCreated | 2008-8-29 | lld:pubmed |
| pubmed-article:18515178 | pubmed:abstractText | Guanosine triphosphate cyclohydrolase 1 (GCH1) is the first enzyme in the tetrahydrobiopterin (BH4) biosynthesis, an important co-factor for the formation of nitric oxide, biogenic amines and serotonin. Hereditary diseases such as DOPA-responsive dystonia and atypical phenylketonuria are known to be caused by coding or splice-site mutations in the GCH1 gene, leading mostly to a dominant negative enzyme. However, recent evidence suggests a clinical genetics of GCH1 beyond these hereditary loss-of-function diseases. That is, a non-coding GCH1 haplotype has been associated with reduced pain hypersensitivity and with altered vascular endothelial function. Moreover, the presence of the non-coding c.*243C>T variant in the 3'-untranslated region (3'-UTR) of the GCH1 gene has been associated with mildly increased heart rate and blood pressure. Here, we show that carriers of the pain-protective GCH1 haplotype also carry the c.*243C>T variant and vice versa. We thus demonstrate that apart from the coding or splice-site variants causing DOPA-responsive dystonia and atypical phenylketonuria, there is a common clinically relevant GCH1 genetics that is so far known to be related to unfavorable changes of endothelial function and a reduced risk for chronic pain. | lld:pubmed |
| pubmed-article:18515178 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18515178 | pubmed:language | eng | lld:pubmed |
| pubmed-article:18515178 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18515178 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:18515178 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18515178 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18515178 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:18515178 | pubmed:issn | 0027-5107 | lld:pubmed |
| pubmed-article:18515178 | pubmed:author | pubmed-author:LötschJörnJ | lld:pubmed |
| pubmed-article:18515178 | pubmed:author | pubmed-author:ChannonKeith... | lld:pubmed |
| pubmed-article:18515178 | pubmed:author | pubmed-author:TegederIrmgar... | lld:pubmed |
| pubmed-article:18515178 | pubmed:author | pubmed-author:AntoniadesCha... | lld:pubmed |
| pubmed-article:18515178 | pubmed:author | pubmed-author:DoehringAlexa... | lld:pubmed |
| pubmed-article:18515178 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:18515178 | pubmed:volume | 659 | lld:pubmed |
| pubmed-article:18515178 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:18515178 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:18515178 | pubmed:pagination | 195-201 | lld:pubmed |
| pubmed-article:18515178 | pubmed:meshHeading | pubmed-meshheading:18515178... | lld:pubmed |
| pubmed-article:18515178 | pubmed:meshHeading | pubmed-meshheading:18515178... | lld:pubmed |
| pubmed-article:18515178 | pubmed:meshHeading | pubmed-meshheading:18515178... | lld:pubmed |
| pubmed-article:18515178 | pubmed:meshHeading | pubmed-meshheading:18515178... | lld:pubmed |
| pubmed-article:18515178 | pubmed:meshHeading | pubmed-meshheading:18515178... | lld:pubmed |
| pubmed-article:18515178 | pubmed:meshHeading | pubmed-meshheading:18515178... | lld:pubmed |
| pubmed-article:18515178 | pubmed:meshHeading | pubmed-meshheading:18515178... | lld:pubmed |
| pubmed-article:18515178 | pubmed:meshHeading | pubmed-meshheading:18515178... | lld:pubmed |
| pubmed-article:18515178 | pubmed:meshHeading | pubmed-meshheading:18515178... | lld:pubmed |
| pubmed-article:18515178 | pubmed:articleTitle | Clinical genetics of functionally mild non-coding GTP cyclohydrolase 1 (GCH1) polymorphisms modulating pain and cardiovascular risk. | lld:pubmed |
| pubmed-article:18515178 | pubmed:affiliation | pharmazentrum frankfurt/ZAFES, Institute of Clinical Pharmacology, Johann Wolfgang Goethe-University, Theodor Stern Kai 7, D-60590 Frankfurt am Main, Germany. | lld:pubmed |
| pubmed-article:18515178 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:18515178 | pubmed:publicationType | Review | lld:pubmed |
| pubmed-article:18515178 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| pubmed-article:18515178 | pubmed:publicationType | Research Support, N.I.H., Extramural | lld:pubmed |
| entrez-gene:2643 | entrezgene:pubmed | pubmed-article:18515178 | lld:entrezgene |
| http://linkedlifedata.com/r... | entrezgene:pubmed | pubmed-article:18515178 | lld:entrezgene |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:18515178 | lld:pubmed |
