0000000000432823
AUTHOR
P. Lecomte
Molecular Analysis of the Androgen Receptor Gene in 52 Patients with Complete or Partial Androgen Insensitivity Syndrome: A Collaborative Study
In patients with androgen insensitivity syndrome (AIS), RFLP study of the androgen receptor gene made it possible to analyze whether deletions or mutations could be responsible for abnormalities in androgen responsiveness. We studied RFLPs of DNA from 25 46,XY patients with partial AIS (PAIS), defined as a concentration of androgen receptor in genital-skin fibroblasts less than 340 fmol/mg DNA, and DNA from 27 46,XY patients with complete AIS (CAIS) with no detectable androgen receptor site. DNA samples were digested with BamHI, EcoRI, HindIII and TaqI restriction enzymes and hybridized with three cDNA probes covering the three domains of the androgen receptor. When we had the maternal and …
Higher risk of death among MEN1 patients with mutations in the JunD interacting domain: a Groupe d'etude des Tumeurs Endocrines (GTE) cohort study.
International audience; Multiple endocrine neoplasia syndrome type 1 (MEN1), which is secondary to mutation of the MEN1 gene, is a rare autosomal-dominant disease that predisposes mutation carriers to endocrine tumors. Although genotype-phenotype studies have so far failed to identify any statistical correlations, some families harbor recurrent tumor patterns. The function of MENIN is unclear, but has been described through the discovery of its interacting partners. Mutations in the interacting domains of MENIN functional partners have been shown to directly alter its regulation abilities. We report on a cohort of MEN1 patients from the Groupe d'étude des Tumeurs Endocrines. Patients with a…
Technique PCR. Un nouvel outil de diagnostic rapide d'Eutypa lata
National audience
New exotic beams from the SPIRAL 1 upgrade
Since 2001, the SPIRAL 1 facility has been one of the pioneering facilities in ISOL techniques for reaccelerating radioactive ion beams: the fragmentation of the heavy ion beams of GANIL on graphite targets and subsequent ionization in the Nanogan ECR ion source has permitted to deliver beams of gaseous elements (He, N, O, F, Ne, Ar, Kr) to numerous experiments. Thanks to the CIME cyclotron, energies up to 20 AMeV could be obtained. In 2014, the facility was stopped to undertake a major upgrade, with the aim to extend the production capabilities of SPIRAL 1 to a number of new elements. This upgrade, which is presently under commissioning, consists in the integration of an ECR booster in the…
Identification d'Eutypa Lata par PCR : procédure et premières applications épidémiologiques
National audience
Measurement of thett¯production cross section inpp¯collisions ats=1.96 TeVusing soft electronb-tagging
The authors present a measurement of the t{bar t} production cross section using events with one charged lepton and jets from p{bar p} collisions at a center-of-mass energy of 1.96 TeV. A b-tagging algorithm based on the probability of displaced tracks coming from the event interaction vertex is applied to identify b quarks from top decay. Using 318 pb{sup -1} of data collected with the CDF II detector, they measure the t{bar t} production cross section in events with at least one restrictive (tight) b-tagged jet and obtain 8.9{sub -1.0}{sup +1.0}(stat.){sub -1.0}{sup +1.1}(syst.) pb. The cross section value assumes a top quark mass of m{sub t} is presented in the paper. This result is cons…
Search for neutral MSSM Higgs bosons at LEP
The four LEP collaborations, ALEPH, DELPHI, L3 and OPAL, have searched for the neutral Higgs bosons which are predicted by the Minimal Supersymmetric Standard Model (MSSM). The data of the four collaborations are statistically combined and examined for their consistency with the background hypothesis and with a possible Higgs boson signal. The combined LEP data show no significant excess of events which would indicate the production of Higgs bosons. The search results are used to set upper bounds on the cross-sections of various Higgs-like event topologies. The results are interpreted within the MSSM in a number of "benchmark" models, including CP-conserving and CP-violating scenarios. Thes…