Sci. Adv. 2019; 5 : eaau9425
Clinical and molecular overlap in imprinting disorders
Imprinting disorders (ID) often affect growth in humans, leading to diseases with overlapping...
Nat Rev Endocrinol. 2019;15(5):299-311
Overgrowth syndromes are a heterogeneous group of rare disorders characterized by generalized or segmental excessive growth commonly associated with...
Sleep Med. 2019;on line
Objective ; Imprinting disorders (ID), such as Prader−Willi syndrome (PWS), are associated with sleep-disordered breathing (SDB). No data are available for...
Front Endocrinol (Lausanne). 2019;10:263
We report an original association of complex genetic defects in a patient carrying both an 11p paternal duplication, resulting in the double...
J Med Genet. 2019
Background : The type 1 insulin-like growth factor receptor (IGF1R) is a keystone of fetal growth regulation by mediating the effects of IGF-I and IGF-II. Recently, a...
PLoS Genet. 2019;15(3):e1008018
Several bacteria in the gut microbiota have been shown to be associated with inflammatory bowel disease (IBD), and dozens of IBD genetic variants have been...
Toxicol Sci. 2019;168(2):474-85
Drug-induced cholestasis is mostly intrahepatic and characterized by alterations of bile canaliculi dynamics and morphology as well as accumulation of bile...
Biochim Biophys Acta Mol Cell Biol Lipids. 2020;1865(2):158530
The mechanisms leading to the low-grade inflammation observed during obesity are not fully understood. Seeking the initiating...
Microbiome. 2019;7(1):111
Background : Normal mammalian development and homeostasis are dependent upon the gut microbiota. Antibiotics, essential for the treatment and prophylaxis of...
Nutr Rev. 2019;77(3):129-43
The plasticity of a material corresponds to its capacity to change its feature under the effect of an external action. Intestinal plasticity could be defined as...
Gut. 2019
Objective : We explored the hypothesis that TGR5, the bile acid (BA) G-protein-coupled receptor highly expressed in biliary epithelial cells, protects the liver against BA...
Nat Rev Gastroenterol Hepatol. 2019;16(6):331-45
The gut microbiota is a dense and diverse ecosystem that is involved in many physiological functions as well as in disease pathogenesis. It...
Nat Rev Rheumatol. 2018;14(11):674-81
The prevalence of osteoarthritis (OA) is rising for reasons that are not fully understood. In this Opinion article, we review the possibility that OA...
Joint Bone Spine. 2018
Metabolic syndrome-associated osteoarthritis (Met-OA) is a clinical phenotype defined by the role of obesity and metabolic syndrome as risk factors and by chronic...
J Cyst Fibros. 2018;17(2):190-203
Background : Cystic fibrosis (CF) lung disease severity is highly variable and dependent on several factors including genetic modifiers. Family with...
Nucleus. 2018;9(1):235-48
Mutations in LMNA, encoding A-type lamins, are responsible for laminopathies including muscular dystrophies, lipodystrophies, and premature ageing syndromes. LMNA...
Physiol Rep. 2018;6(8):e13678
The RORalpha-deficient staggerer (sg/sg) mouse is lean and resistant to diet-induced obesity. Its thermogenic activity was shown to be increased not only in...
