Genomes and Genes
Experts and Doctors on dna in Nantes, Pays de la Loire, France
Locale: Nantes, Pays de la Loire, France
- Chadeneau C, LeMoullac B, LeCabellec M, Mattei M, Meflah K, Denis M. Isolation and chromosomal location of mE4, a novel murine gene of the immunoglobulin superfamily. Mamm Genome. 1996;7:636-7 pubmed
- Chipoy C, Berreur M, Couillaud S, Pradal G, Vallette F, Colombeix C, et al. Downregulation of osteoblast markers and induction of the glial fibrillary acidic protein by oncostatin M in osteosarcoma cells require PKCdelta and STAT3. J Bone Miner Res. 2004;19:1850-61 pubmed..Together with the implication of PKCdelta, ERK1/2, and STAT3, these results offer new lines of investigations for neural cell transplantation and osteosarcoma therapy. ..
- Barc J, Briec F, Schmitt S, Kyndt F, Le Cunff M, Baron E, et al. Screening for copy number variation in genes associated with the long QT syndrome: clinical relevance. J Am Coll Cardiol. 2011;57:40-7 pubmed publisher..Thus, we propose that CNV screening in KCNQ1 and KCNH2 may be performed routinely in LQTS patients. ..
- Isidor B, Lindenbaum P, Pichon O, Bezieau S, Dina C, Jacquemont S, et al. Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. Nat Genet. 2011;43:306-8 pubmed publisher..All mutations cluster to the last coding exon of the gene, suggesting that the mutant mRNA products escape nonsense-mediated decay and that the resulting truncated NOTCH2 proteins act in a gain-of-function manner. ..
- Alsaleh A, Pellerin J, Rodolakis A, Larrat M, Cochonneau D, Bruyas J, et al. Detection of Coxiella burnetii, the agent of Q fever, in oviducts and uterine flushing media and in genital tract tissues of the non pregnant goat. Comp Immunol Microbiol Infect Dis. 2011;34:355-60 pubmed publisher..The infection of genital tract flushing media and tissues is a risk factor for the transmission of C. burnetii from donor to recipient during embryo transfer or to the embryo and fetus when gestation is pursued to term...
- Seki A, Ishikawa T, Daumy X, Mishima H, Barc J, Sasaki R, et al. Progressive Atrial Conduction Defects Associated With Bone Malformation Caused by a Connexin-45 Mutation. J Am Coll Cardiol. 2017;70:358-370 pubmed publisher..Altogether, the authors showed that Cx45 mutant p.R75H is responsible for a novel disease entity of progressive atrial conduction system defects associated with craniofacial and dentodigital malformation. ..