Almutairi, B. et al. 2019 Epigenetic deregulation of GATA3 in neuroblastoma is associated with increased GATA3 protein expression and with poor outcomes To discover epigenetic changes that may underly neuroblastoma pathogenesis, we identified differentially methylated genes in neuroblastoma cells compared to neural crest cells, the presumptive... Sci Rep - issue: 9 - volume: 1 - pages: 18934.
Almutairi, B. et al. 2019 Epigenetic deregulation of GATA3 in neuroblastoma is associated with increased GATA3 protein expression and with poor outcomes To discover epigenetic changes that may underly neuroblastoma pathogenesis, we identified differentially methylated genes in neuroblastoma cells compared to neural crest cells, the presumptive... - issue: - volume: 9 - pages: .
Dion, C. et al. 2019 SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite The DNA methylation epigenetic signature is a key determinant during development. Rules governing its establishment and maintenance remain elusive especially at repetitive sequences, which account for... Nucleic Acids Res. - issue: 6 - volume: 47 - pages: 2822-2839.
Laberthonnière, C. et al. 2019 Bring It to an End: Does Telomeres Size Matter? Telomeres are unique nucleoprotein structures. Found at the edge of each chromosome, their main purpose is to mask DNA ends from the DNA-repair machinery by formation of protective loops. Through life... Cells - issue: 1 - volume: 8 - pages: .
Sayed, ME. et al. 2019 NOVA1 directs PTBP1 to hTERT pre-mRNA and promotes telomerase activity in cancer cells Alternative splicing is dysregulated in cancer cells, driving the production of isoforms that allow tumor cells to survive and continuously proliferate. Part of the reactivation of telomerase involves... Oncogene - issue: 16 - volume: 38 - pages: 2937-2952.
Grelet, M. et al. 2019 Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders - issue: 1 - volume: 14 - pages: .
Swedlund, B. et al. 2019 Cardiopharyngeal Progenitor Specification: Multiple Roads to the Heart and Head Muscles During embryonic development, the heart arises from various sources of undifferentiated mesodermal progenitors, with an additional contribution from ectodermal neural crest cells. Mesodermal cardiac... Cold Spring Harbor perspect Biol - issue: - volume: - pages: .
Malissen, N. et al. 2019 HVEM has a broader expression than PD-L1 and constitutes a negative prognostic marker and potential treatment target for melanoma - issue: 12 - volume: 8 - pages: .
Malissen, N. et al. 2019 HVEM has a broader expression than PD-L1 and constitutes a negative prognostic marker and potential treatment target for melanoma HVEM (Herpes Virus Entry Mediator) engagement of BTLA (B and T Lymphocyte Attenuator) triggers inhibitory signals in T cells and could play a role in evading antitumor immunity. Here, HVEM expression... - issue: 12 - volume: 8 - pages: .
Danielsson, A. et al. 2019 Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement - issue: 12 - volume: 8 - pages: .
Odelin, G. et al. 2019 Krox20 Regulates Endothelial Nitric Oxide Signaling in Aortic Valve Development and Disease Among the aortic valve diseases, the bicuspid aortic valve (BAV) occurs when the aortic valve has two leaflets (cusps), rather than three, and represents the most common form of congenital cardiac... J Cardiovasc Dev Dis - issue: 4 - volume: 6 - pages: .
Nair, P. et al. 2019 Further Delineation of the TRAPPC6B Disorder: Report on a New Family and Review - issue: 4 - volume: 8 - pages: 252-255.
Denis, JA. et al. 2019 Development of molecular analyzes by digital PCR for clinical practice: positioning, current applications and perspectives - issue: 6 - volume: 77 - pages: 619-637.
Roche, S. et al. 2019 Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism Objective: To investigate the distribution of cytosine-guanine dinucleotide (CpG) sites with a variable level of DNA methylation of the D4Z4 macrosatellite element in patients with facioscapulohumeral... Neurol Genet - issue: 6 - volume: 5 - pages: e372.
Denis, J. et al. 2019 [Development of molecular analysis by digital PCR for clinical practice: positioning, current applications and perspectives]. This review is the second part of the workshop on digital PCR (dPCR) proposed by the working group of the French society of clinical biology. The first part of the paper discusses the advantages and... Ann Biol Clin (Paris) - issue: 6 - volume: 77 - pages: 619-637.
Reichert, T. et al. 2019 Exploring the link between tumour metabolism and succinate dehydrogenase deficiency: A (18) F-FDOPA PET/CT study in head and neck paragangliomas. OBJECTIVES: Nuclear imaging findings by virtue of phenotyping disease heavily depend on genetic background, metabolites, cell membrane specific targets and signalling pathways. PPGL related to... Clin Endocrinol (Oxf) - issue: 6 - volume: 91 - pages: 879-884.
Castinetti, F. et al. 2019 Letter to the Editor: "Why We Should Still Treat by Neurosurgery Patients With Cushing Disease and a Normal or Inconclusive Pituitary MRI". J Clin Endocrinol Metab - issue: 12 - volume: 104 - pages: 5791-5792.
Danielsson, A. et al. 2019 Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement Pallidal deep brain stimulation is an established treatment in dystonia. Available data on the effect in DYT-THAP1 dystonia (also known as DYT6 dystonia) are scarce and long-term follow-up studies are... - issue: 12 - volume: 8 - pages: .
Nair, P. et al. 2019 Further Delineation of the TRAPPC6B Disorder: Report on a New Family and Review Pathogenic variants in the TRAPPC6B gene were recently found to be associated in three consanguineous families, with microcephaly, epilepsy, and brain malformations. Here, we report on a 3.5-year-old... - issue: 4 - volume: 8 - pages: 252-255.
Denis, JA. et al. 2019 Development of molecular analyzes by digital PCR for clinical practice: positioning, current applications and perspectives This review is the second part of the workshop on digital PCR (dPCR) proposed by the working group of the French society of clinical biology. The first part of the paper discusses the advantages and... - issue: 6 - volume: 77 - pages: 619-637.