| pubmed-article:12627230 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:12627230 | lifeskim:mentions | umls-concept:C0919509 | lld:lifeskim |
| pubmed-article:12627230 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:12627230 | lifeskim:mentions | umls-concept:C0162809 | lld:lifeskim |
| pubmed-article:12627230 | lifeskim:mentions | umls-concept:C0443147 | lld:lifeskim |
| pubmed-article:12627230 | lifeskim:mentions | umls-concept:C1524003 | lld:lifeskim |
| pubmed-article:12627230 | pubmed:issue | 4 | lld:pubmed |
| pubmed-article:12627230 | pubmed:dateCreated | 2003-3-31 | lld:pubmed |
| pubmed-article:12627230 | pubmed:abstractText | We took advantage of overlapping interstitial deletions at chromosome 8p11-p12 in two individuals with contiguous gene syndromes and defined an interval of roughly 540 kb associated with a dominant form of Kallmann syndrome, KAL2. We establish here that loss-of-function mutations in FGFR1 underlie KAL2 whereas a gain-of-function mutation in FGFR1 has been shown to cause a form of craniosynostosis. Moreover, we suggest that the KAL1 gene product, the extracellular matrix protein anosmin-1, is involved in FGF signaling and propose that the gender difference in anosmin-1 dosage (because KAL1 partially escapes X inactivation) explains the higher prevalence of the disease in males. | lld:pubmed |
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| pubmed-article:12627230 | pubmed:language | eng | lld:pubmed |
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| pubmed-article:12627230 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:12627230 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:12627230 | pubmed:month | Apr | lld:pubmed |
| pubmed-article:12627230 | pubmed:issn | 1061-4036 | lld:pubmed |
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| pubmed-article:12627230 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:12627230 | pubmed:volume | 33 | lld:pubmed |
| pubmed-article:12627230 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:12627230 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:12627230 | pubmed:pagination | 463-5 | lld:pubmed |
| pubmed-article:12627230 | pubmed:dateRevised | 2010-5-26 | lld:pubmed |
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| pubmed-article:12627230 | pubmed:year | 2003 | lld:pubmed |
| pubmed-article:12627230 | pubmed:articleTitle | Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. | lld:pubmed |
| pubmed-article:12627230 | pubmed:affiliation | Institut Cochin et Laboratoire de Biochimie et Génétique Moléculaire, Hôpital Cochin, 75014 Paris, France. | lld:pubmed |
| pubmed-article:12627230 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:12627230 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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