2010
L-Histidine Decarboxylase and Tourette's Syndrome
Ercan-Sencicek AG, Stillman AA, Ghosh AK, Bilguvar K, O'Roak BJ, Mason CE, Abbott T, Gupta A, King RA, Pauls DL, Tischfield JA, Heiman GA, Singer HS, Gilbert DL, Hoekstra PJ, Morgan TM, Loring E, Yasuno K, Fernandez T, Sanders S, Louvi A, Cho JH, Mane S, Colangelo CM, Biederer T, Lifton RP, Gunel M, State MW. L-Histidine Decarboxylase and Tourette's Syndrome. New England Journal Of Medicine 2010, 362: 1901-1908. PMID: 20445167, PMCID: PMC2894694, DOI: 10.1056/nejmoa0907006.Peer-Reviewed Original ResearchConceptsRare functional mutationsL-histidine decarboxylaseRate-limiting enzymeHDC geneTwo-generation pedigreeFunctional mutationsStrong genetic contributionHistamine biosynthesisAnalysis of linkageGenetic contributionModel systemRisk allelesDevelopmental neuropsychiatric disordersDecarboxylaseBiosynthesisGenesTourette syndromeMutationsAllelesEnzymeInheritanceNeuropsychiatric disordersPedigree
1997
Insulin-like growth factor II stimulates cell proliferation through the insulin receptor
Morrione A, Valentinis B, Xu S, Yumet G, Louvi A, Efstratiadis A, Baserga R. Insulin-like growth factor II stimulates cell proliferation through the insulin receptor. Proceedings Of The National Academy Of Sciences Of The United States Of America 1997, 94: 3777-3782. PMID: 9108054, PMCID: PMC20517, DOI: 10.1073/pnas.94.8.3777.Peer-Reviewed Original ResearchConceptsInsulin receptorSerum-free mediumType 1 insulin-like growth factor receptorCell proliferationInsulin-like growth factor receptorR cellsIGF-IIWild-type counterpartsGrowth factor receptorGrowth factor supplementationInsulin-like growth factor IITargeted disruptionFactor receptorGrowth factor IIFactor supplementationGrowth factorPlasmidAdditional plasmidsCellsReceptorsFactor IIProliferationGenesIGF1RFibroblasts