Laurent Gouya
Responsable de l'équipe, Hème, fer et pathologies inflammatoires
Institution:
USPC - SET - SVS
Summary
Published articles Show More
Heterozygous Mutations in BMP6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in Humans...
...Published in Gastroenterology
Background & Aims Hereditary hemochromatosis is a heterogeneous group of genetic disorders characterized by parenchymal iron overload. It is caused by defective expression of liver hepcidin, the main regulator of iron homeostasis. Iron stimulates the gene encoding (HAMP) hepcidin via the BMP6 signaling to SMAD. Although several genetic factors have...
High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations...
...
Published in EP Europace
AIMS: Mutations in PRKAG2, the gene encoding for the γ2 subunit of 5'-AMP-activated protein kinase (AMPK), are responsible for an autosomal dominant glycogenosis with a cardiac presentation, associating hypertrophic cardiomyopathy (HCM), ventricular pre-excitation (VPE), and progressive heart block. The aim of this study was to perform a retrospect...
Germline SFTPA1 mutation in familial idiopathic interstitial pneumonia and lung cancer
...
Idiopathic interstitial pneumonias (IIPs) comprise a heterogeneous group of rare lung parenchyma disorders with high morbidity and mortality, which can occur at all ages. In adults, the most common form of IIPs, idiopathic pulmonary fibrosis (IPF), has been associated with an increased frequency of lung cancer. The molecular basis of IIPs remains u...
Theses Show More
Experience
Responsable de l'équipe
Université Paris Diderot
Hème, fer et pathologies inflammatoires; Département Néphrologie, Immunologie et Hématologie (NIH); UMR 1149, Centre de Recherche sur l'Inflamation (CRI); UFR de Médecine
