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: .
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... - issue: 3 - volume: 102 - pages: 364 - 374.
Metais, A. et al. 2018 Asb2 alpha-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... - issue: 6 - volume: 122 - pages: E34+.
McCormack, A. et al. 2018 Treatment of aggressive pituitary tumours and carcinomas: results of a European Society of Endocrinology (ESE) survey 2016. OBJECTIVE: To collect outcome data in a large cohort of patients with aggressive pituitary tumours (APT)/carcinomas (PC) and specifically report effects of temozolomide (TMZ) treatment. DESIGN:... Eur J Endocrinol - issue: 3 - volume: 178 - pages: 265-276.
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.
Levy, N. et al. 2018 "Pain as the fifth vital sign" and dependence on the "numerical pain scale" is being abandoned in the US: Why? Br. J. Anaesth. - issue: 3 - volume: 120 - pages: 435-438.
Barthelemy, F. et al. 2018 Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet Skeletal muscle undergoes many micro-membrane lesions at physiological state. Based on their sizes and magnitude these lesions are repaired via different complexes on a specific spatio-temporal... - issue: 1 - volume: 5 - pages: 21 - 28.
Moore-Morris, T. et al. 2018 Infarct Fibroblasts Do Not Derive From Bone Marrow Lineages RATIONALE: Myocardial infarction is a major cause of adult mortality worldwide. The origin(s) of cardiac fibroblasts that constitute the postinfarct scar remain controversial, in particular the... Circ Res - issue: 4 - volume: 122 - pages: 583-590.
Moore-Morris, T. et al. 2018 Infarct Fibroblasts Do Not Derive From Bone Marrow Lineages RATIONALE: Myocardial infarction is a major cause of adult mortality worldwide. The origin(s) of cardiac fibroblasts that constitute the postinfarct scar remain controversial, in particular the... Circ Res - issue: 4 - volume: 122 - pages: 583-590.
Amodru, V. et al. 2018 Quantitative F-18-DOPA PET/CT in pheochromocytoma: the relationship between tumor secretion and its biochemical phenotype Introduction F-18-FDOPA illustrates the properties of uptake and storage of catecholamines in pheochromocytomas (PHEOs). Until now, the relationship between F-18-FDOPA quantitative parameters and a... - issue: 2 - volume: 45 - pages: 278-282.
Mancini, J. et al. 2018 Effect of desipramine on patients with breathing disorders in RETT syndrome Objective: Rett Syndrome (RTT) is a severe neurodevelopmental condition with breathing disorders, affecting around one in 10,000 female births. Desipra-mine, a noradrenaline reuptake inhibitor,... - issue: 2 - volume: 5 - pages: 118 - 127.
Noury, J. et al. 2018 Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of Bcl-2-associated athanogene-3 gene mutations even without cardiac involvement - issue: 2 - volume: 57 - pages: 330 - 334.
Ben Rekaya, M. et al. 2018 Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosis - issue: 2 - volume: 89 - pages: 172--180.
Noury, J. et al. 2018 RIGID SPINE SYNDROME ASSOCIATED WITH SENSORY-MOTOR AXONAL NEUROPATHY RESEMBLING CHARCOT-MARIE- TOOTH DISEASE IS CHARACTERISTIC OF Bcl-2-ASSOCIATED ATHANOGENE-3 GENE MUTATIONS EVEN WITHOUT CARDIAC INVOLVEMENT Introduction: Bcl-2-associated athanogene-3 (BAG3) mutations have been described in rare cases of rapidly progres-sive myofibrillar myopathies. Symptoms begin in the first decade with axial... Muscle Nerve - issue: 2 - volume: 57 - pages: 330-334.