Altered calcium homeostasis in autism-spectrum disorders: evidence from biochemical and genetic studies of the mitochondrial aspartate/glutamate carrier AGC1
L Palmieri , V Papaleo , V Porcelli, P Scarcia, L Gaita , R Sacco , J Hager , F Rousseau , P Curatolo , B Manzi, R Militerni , C Bravaccio, S Trillo , C Schneider , R Melmed , M Elia , C Lenti1, M Saccani, T Pascucci, S Puglisi-Allegra, K-L Reichelt and AM Persico
Temporocortical gray matter from six matched patient-control pairs was used to perform post-mortem biochemical and genetic studies of the mitochondrial aspartate/glutamate carrier (AGC). Variants of the AGC1-encoding SLC25A12 gene were neither correlated with AGC activation nor associated with autism spectrum disorders in 309 simplex and 17 multiplex families, whereas some unaffected siblings may carry a protective gene variant.
Molecular Psychiatry (2008), 1–15
Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31 : a candidate gene analysis.
Philippi A, Tores F, Carayol J, Rousseau F, Letexier M, Roschmann E, Lindenbaum P, A Benajjou, Fontaine K, Vazart C, Gesnouin P, Brooks P, Hager J, 2007 Dec, Biomed Central
Estimating haplotype relative risks in complex disease from unphased snps data in families using a likelihood adjusted for ascertainment Carayol J, Philippi A, Tores F, 2006 Aug , Genetic Epidemiology
On confidence intervals for genotype relative risks and attributable risks from case parent trio designs for candidate-gene studies Franke D, Philippi A, Tores F, Hager J, Ziegler A, Konig IR,
2005 Sep, Human Heredity
Haplotypes in the gene encoding protein kinase c-beta (PRKCB1) on chromosome 16 are associated with autism Philippi A, Roschmann E, Tores F, Lindenbaum P, Benajou A, Germain-Leclerc L, Marcaillou C, Fontaine K, Vanpeene M, Roy S, Maillard S, Decaulne V, Saraiva JP, Brooks P, Rousseau F, Hager J, 2005 Jul, Molecular Psychiatry
The coordinated functions of the E. coli MutS and MutL proteins in mismatch repair Acharya S, Foster PL, Brooks P, Fishel R, 2003 Jul, Molecular Cell
Binding discrimination of MutS to a set of lesions and compound lesions (base damage and mismatch) reveals its potential role as a cisplatin-damaged DNA sensing protein Fourrier L, Brooks P, Malinge JM, 2003 Jun, Journal of Biological Chemistry
The art of pedigree drawing: algorithmic aspects Tores F, Barillot E, 2001 Feb, Bioinformatics
MutS-DNA interactions and DNase protection analysis with surface plasmon resonance Brooks P, 2000, Methods in Molecular Biology
Genetic variation in coronary heart disease and myocardial infarction: methodological overview and clinical evidence Winkelmann BR, Hager J, 2000 Feb, Pharmacogenomics
ATP hydrolysis-dependent formation of a dynamic ternary nucleoprotein complex with MutS and MutL Galio L, Bouquet C, Brooks P, 1999 Jun, Nucleic Acids Research
A genome-wide scan for human obesity genes reveals a major susceptibility locus on chromosome 10 Hager J, Dina C, Francke S, Dubois S, Houari M, Vatin V, Vaillant E, Lorentz N, Basdevant A, Clement K, Guy-Grand B, Froguel P, 1998 Nov, Nature Genetics
A susceptibility locus for early-onset non-insulin dependent (type 2) diabetes mellitus maps to chromosome 20q, proximal to the phosphoenolpyruvate carboxykinase gene Zouali H, Hani EH, Philippi A, Vionnet N, Beckmann JS, Demenais F, Froguel P, 1997 Sep, Human Molecular Genetics
Mapping NIDDM susceptibility loci in French families: studies with markers in the region of NIDDM1 on chromosome 2q Hani EH, Hager J, Philippi A, Demenais F, Froguel P, Vionnet N, 1997 Jul, Diabetes
Genetic studies of neuropeptide Y and neuropeptide Y receptors Y1 and Y5 regions in morbid obesity Roche C, Boutin P, Dina C, Gyapay G, Basdevant A, Hager J, Guy-Grand B, Clement K, Froguel P, 1997 Jun, Diabetologia
A missense mutation in the glucagon receptor gene is associated with non-insulin-dependent diabetes mellitus Hager J, Hansen L, Vaisse C, Vionnet N, Philippi A, Poller W, Velho G, Carcassi C, Contu L, Julier C, 1995 Mar, Nature Genetics
