Frankel, D. et al. 2018 MicroRNAs in hereditary and sporadic premature aging syndromes and other laminopathies Hereditary and sporadic laminopathies are caused by mutations in genes encoding lamins, their partners, or the metalloprotease ZMPSTE24/FACE1. Depending on the clinical phenotype, they are classified... Aging Cell - issue: - volume: - pages: e12766.
Frankel, D. et al. 2018 Detection of EGFR, KRAS and BRAF mutations in metastatic cells from cerebrospinal fluid - issue: 5 - volume: 56 - pages: 748 - 753.
Shahid, SU. et al. 2018 GWAS implicated risk variants in different genes contribute additively to increase the risk of coronary artery disease (CAD) in the Pakistani subjects BACKGROUND: Coronary artery disease (CAD) remains the single most important cause of mortality worldwide. Many candidate and GWAS genetic variants have been identified in the recent years. In the... Lipids Health Dis - issue: 1 - volume: 17 - pages: 89.
Broncy, L. et al. 2018 Single-cell genetic analysis validates cytopathological identification of circulating cancer cells in patients with clear cell renal cell carcinoma Context: Circulating Rare Cells (CRC) are non-haematological cells circulating in blood. They include Circulating Cancer Cells (CCC) and cells with uncertain malignant features (CRC-UMF) according to... Oncotarget - issue: 28 - volume: 9 - pages: 20058-20074.
Harhouri, K. et al. 2018 An overview of treatment strategies for Hutchinson-Gilford Progeria Syndrome - issue: 1 - volume: 9 - pages: 265-276.
Giraud, A. et al. 2018 Between “pragmatic” interpretation and “disturbing” understanding: Embryonic cryopreservation for IVF patients - issue: 4 - volume: 46 - pages: 395 - 402.
Valassi, E. et al. 2018 Preoperative medical treatment in Cushing's syndrome: frequency of use and its impact on postoperative assessment: data from ERCUSYN Background: Surgery is the definitive treatment of Cushing's syndrome (CS) but medications may also be used as a first-line therapy. Whether preoperative medical treatment (PMT) affects postoperative... - issue: 4 - volume: 178 - pages: 399-409.
Ta, . et al. 2018 18F-FDOPA PET/CT Imaging of MAX-Related Pheochromocytoma. CONTEXT: MYC-associated factor X (MAX) has been recently described as a new susceptibility pheochromocytoma (PHEO) gene with a total of ~40 reported cases. At present, no study has specifically... J Clin Endocrinol Metab - issue: 4 - volume: 103 - pages: 1574-1582.
Vitellius, G. et al. 2018 Significant prevalence of NR3C1 mutations in incidentally discovered bilateral adrenal hyperplasia: results of the French MUTA-GR Study. BACKGROUND: Recently discovered mutations of NR3C1 gene, encoding for the GR, in patients with glucocorticoid resistance and bilateral adrenal incidentalomas prompted us to investigate whether GR... Eur J Endocrinol - issue: 4 - volume: 178 - pages: 411-423.
Valassi, E. et al. 2018 Preoperative medical treatment in Cushing's syndrome: frequency of use and its impact on postoperative assessment: data from ERCUSYN. BACKGROUND: Surgery is the definitive treatment of Cushing's syndrome (CS) but medications may also be used as a first-line therapy. Whether preoperative medical treatment (PMT) affects postoperative... Eur J Endocrinol - issue: 4 - volume: 178 - pages: 399-409.
Métais, A. et al. 2018 Asb2α-Filamin A Axis Is Essential for Actin Cytoskeleton Remodeling During Heart Development RATIONALE: Heart development involves differentiation of cardiac progenitors and assembly of the contractile sarcomere apparatus of cardiomyocytes. However, little is known about the mechanisms that... Circ Res. - issue: 6 - volume: 122 - pages: e34-e48.
Métais, A. et al. 2018 Asb2α-Filamin A Axis Is Essential for Actin Cytoskeleton Remodeling During Heart Development. RATIONALE: Heart development involves differentiation of cardiac progenitors and assembly of the contractile sarcomere apparatus of cardiomyocytes. However, little is known about the mechanisms that... Circ Res - issue: 6 - volume: 122 - pages: e34-e48.
Prados, B. et al. 2018 Myocardial Bmp2 gain causes ectopic EMT and promotes cardiomyocyte proliferation and immaturity During mammalian heart development, restricted myocardial Bmp2 expression is a key patterning signal for atrioventricular canal specification and the epithelial-mesenchyme transition that gives rise... Cell Death Dis - issue: 3 - volume: 9 - pages: 399.
Lescroart, F. et al. 2018 Defining the earliest step of cardiovascular lineage segregation by single-cell RNA-seq Mouse heart development arises from Mesp1-expressing cardiovascular progenitors (CPs) that are specified during gastrulation. The molecular processes that control early regional and lineage... Science - issue: 6380 - volume: 359 - pages: 1177-1181.
Esteve, C. et al. 2018 Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility Despite the rapid discovery of genes for rare genetic disorders, we continue to encounter individuals presenting with syndromic manifestations. Here, we have studied four affected people in three... Am. J. Hum. Genet. - issue: 3 - volume: 102 - pages: 364-374.
Roubertoux, PL. et al. 2018 Measuring Preweaning Sensorial and Motor Development in the Mouse The immaturity at birth and the slowness of ontogenic processes in mice provide the opportunity to measure rates of development. We describe here 18 measures covering the sensorial and motor onset... Curr Protoc Mouse Biol - issue: 1 - volume: 8 - pages: 54-78.
Fabre, A. et al. 2018 A new mutation in the C-terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho-hepato-enteric syndrome in seven patients from two families Syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE) is a rare congenital enteropathy with seven main clinical features: intractable diarrhea of infancy, hair abnormalities, intrauterine growth... Am. J. Med. Genet. A - issue: 3 - volume: 176 - pages: 727-732.
Thomas, AC. et al. 2018 Widespread dynamic and pleiotropic expression of the melanocortin-1-receptor (MC1R) system is conserved across chick, mouse and human embryonic development BackgroundMC1R, a G-protein coupled receptor with high affinity for alpha-melanocyte stimulating hormone (MSH), modulates pigment production in melanocytes from many species and is associated with... - issue: 5 - volume: 110 - pages: 443-455.
Fabre, A. et al. 2018 A new mutation in the C-terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho-hepato-enteric syndrome in seven patients from two families Syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE) is a rare congenital enteropathy with seven main clinical features: intractable diarrhea of infancy, hair abnormalities, intrauterine growth... - issue: 3 - volume: 176 - pages: 727 - 732.
Prados, B. et al. 2018 Myocardial Bmp2 gain causes ectopic EMT and promotes cardiomyocyte proliferation and immaturity During mammalian heart development, restricted myocardial Bmp2 expression is a key patterning signal for atrioventricular canal specification and the epithelial-mesenchyme transition that gives rise... - issue: 3 - volume: 9 - pages: .