LIMEIL-BREVANNES
Publications:
-Béroud C, Letovsky SI, Braastad CD, Caputo SM, et al. (2016) “BRCA Share: A Collection of Clinical BRCA Gene Variants. ” Human Mutation (accepted)
-de la Hoya M., ......, Caputo S.M., et al. (2016) “Combined genetic and splicing analysis of BRCA1 c.[594-2A > C; 641A > G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.” Hum Mol Genet. 25(11):2256-2268
-Golmard L., ....., Caputo S., et al. (2015) “Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations.” Oncogene (accepted)
-Jhuraney A., ......, Caputo S.M., et al. (2015) “BRCA1 CIRCOS: A visualization resource for functional analysis of missense variants” J. Med. Genet. 52(4):224-30.
-Caputo S.M.*, Guidugli L*, Carreira A*, et al. (2014) “Functional Assays for Analysis of Variants of Uncertain Significance in BRCA2.” Hum. Mutation 35(2):151-64
-Gaildrat P., Krieger S., Digiacomo D., Abdat J., Révillion F., Caputo S., et al. (2012) “Multiple splicing regulatory elements are altered by sequence variants in BRCA2 exon7.” J. Med. Genet. 49(10):609-17
-Spurdle A.B., ....., Caputo S., et al. (2012) “The BRCA1 R1699Q variant displaying ambiguous functional abrogation confers an intermediate risk of breast and ovarian cancer.” J. Med. Genet. 49(8):525-532
-Millot G.A., Carvalho M.A., Caputo S.M., et al. (2012) “A Guide for Functional Analysis of BRCA1 Variants of Uncertain Significance (VUS).” Hum Mutat. 33(11):1526-37
-Rouleau E, ....., Caputo S, et al (2012) “Rare germline large rearrangements in the BRCA1/2 genes and eight candidate genes in 472 patients with breast cancer predisposition.” Breast Cancer Res Treat.
-Spurdle AB, et al. (2012). “ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes.” Hum Mutat. 33(1):2-7
-Caputo S., et al (2012). “Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases.” Nucleic Acids Res. 40(Database issue):D992-1002.
-Muller D., Rouleau E., Schultz I., Caputo S., et al (2011). “An entire exon 3 germ-line rearrangement in the BRCA2 gene: pathogenic relevance of exon 3 deletion in breast cancer predisposition.” BMC Medical Genetics 12:121.
-Kondé E, Bourgeois B, Tellier-Lebegue C, Wu W, Pérez J, Caputo SM, et al (2010). “Structural analysis of the Smad2-MAN1 interactions that regulates transforming growth factor-ss signaling at the inner nuclear membrane.” Biochemistry 49(37):8020-32.
-Rouleau E., Lefol C., Moncoutier V., Castera L., Houdayer C., Caputo S., et al (2010). “A missense variant within BRCA1 exon 23 causing exon skipping.” Cancer Genetics and Cytogenetics, 202(2):144-6.
-Verstraeten V. L., Caputo S., et al (2009). “The R439C mutation in LMNA causes lamin oligomerisation and susceptibility to oxidative stress.” J. Cell. Mol. Med., 13(5), 959-71.
-Aliprandi P., Sizun C., Perez J., Mareuil F., Caputo S., et al (2008). “S1 ribosomal functions in translation initiation and ribonuclease RegB activation are mediated by similar RNA/protein interactions: a NMR and SAXS analysis.” J. Biol. Chem., 283(19),13289-301.
-Caputo S., et al (2006). "The carboxyl-terminal nucleoplasmic region of MAN1 exhibits a DNA binding winged helix domain." J. Biol. Chem., 281(26),18208-18215.
-Caputo S., et al (2006). "NMR assignment of Region 655-775 of Human MAN1." J. Biomol. NMR, 36:2.
Mes compétences :
RMN
Biologie structurale
Spectrométrie
Gestion de projet
Biochimie
Biophysique
Biologie moléculaire
