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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2003-3-31
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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.
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/Cell Adhesion Molecules,
http://linkedlifedata.com/resource/pubmed/chemical/Extracellular Matrix Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/FGFR1 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/KAL1 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Nerve Tissue Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Receptor, Fibroblast Growth...,
http://linkedlifedata.com/resource/pubmed/chemical/Receptor Protein-Tyrosine Kinases,
http://linkedlifedata.com/resource/pubmed/chemical/Receptors, Fibroblast Growth Factor
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
1061-4036
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pubmed:author |
pubmed-author:AmalfitanoAndreaA,
pubmed-author:BachelotYvanY,
pubmed-author:BaverelFrançoiseF,
pubmed-author:BouchardPhilippeP,
pubmed-author:CabrolSylvieS,
pubmed-author:CarelJean-ClaudeJC,
pubmed-author:CoimbraRoney SRS,
pubmed-author:Compain-NouailleSylvieS,
pubmed-author:CruaudCorinneC,
pubmed-author:De PaepeAnneA,
pubmed-author:Delemarre-van de WaalHenrietteH,
pubmed-author:DelmaghaniSedighehS,
pubmed-author:DelpechMarcM,
pubmed-author:DodéCatherineC,
pubmed-author:DupontJean-MichelJM,
pubmed-author:Goulet-SalmonBarbaraB,
pubmed-author:HardelinJean-PierreJP,
pubmed-author:KottlerMarie-LaureML,
pubmed-author:Le DûNathalieN,
pubmed-author:Le TessierDominiqueD,
pubmed-author:LevilliersJacquelineJ,
pubmed-author:PêcheuxChristopheC,
pubmed-author:PetitChristineC,
pubmed-author:RichardOdileO,
pubmed-author:Sanchez-FrancoFrancoF,
pubmed-author:SauraRobertR,
pubmed-author:Soussi-YanicostasNadiaN,
pubmed-author:SpelemanFrankF,
pubmed-author:VermeulenStefanS,
pubmed-author:YoungJacquesJ
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pubmed:issnType |
Print
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pubmed:volume |
33
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
463-5
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pubmed:dateRevised |
2010-5-26
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pubmed:meshHeading |
pubmed-meshheading:12627230-Cell Adhesion Molecules,
pubmed-meshheading:12627230-Chromosome Deletion,
pubmed-meshheading:12627230-Chromosomes, Human, Pair 8,
pubmed-meshheading:12627230-Chromosomes, Human, X,
pubmed-meshheading:12627230-Exons,
pubmed-meshheading:12627230-Extracellular Matrix,
pubmed-meshheading:12627230-Extracellular Matrix Proteins,
pubmed-meshheading:12627230-Family Health,
pubmed-meshheading:12627230-Female,
pubmed-meshheading:12627230-Genes, Dominant,
pubmed-meshheading:12627230-Humans,
pubmed-meshheading:12627230-Introns,
pubmed-meshheading:12627230-Kallmann Syndrome,
pubmed-meshheading:12627230-Male,
pubmed-meshheading:12627230-Mutation,
pubmed-meshheading:12627230-Nerve Tissue Proteins,
pubmed-meshheading:12627230-Pedigree,
pubmed-meshheading:12627230-Receptor, Fibroblast Growth Factor, Type 1,
pubmed-meshheading:12627230-Receptor Protein-Tyrosine Kinases,
pubmed-meshheading:12627230-Receptors, Fibroblast Growth Factor,
pubmed-meshheading:12627230-Sex Factors,
pubmed-meshheading:12627230-Signal Transduction
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pubmed:year |
2003
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pubmed:articleTitle |
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
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pubmed:affiliation |
Institut Cochin et Laboratoire de Biochimie et Génétique Moléculaire, Hôpital Cochin, 75014 Paris, France.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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