Steffann, Julie Pouliet, Aurore Adjal, Houda Bole, Christine Fourrage, Cécile Martinovic, Jelena Rolland-Galmiche, Louise Agnès Rötig Tores, Frédéric Munnich, Arnold
...
Published in
Journal of Medical Genetics
Background: While mitochondrial DNA (mtDNA) copy number is strictly regulated during differentiation and according to cell type, very little is known regarding the mechanism which accurately controls mtDNA copy number in human. Exon 2 of the human POLG gene, encoding the catalytic subunit of the mitochondrial-specific DNA polymerase gamma, contains...
Kayani, Mahaz Aslam, Arif M
Published in
BMJ
Bruel, Ange-Line Franco, Brunella Duffourd, Yannis Thevenon, Julien Jego, Laurence Lopez, Estelle Deleuze, Jean-François Doummar, Diane Giles, Rachel H Johnson, Colin A
...
Published in
Journal of medical genetics
Oral-facial-digital syndromes (OFDS) gather rare genetic disorders characterised by facial, oral and digital abnormalities associated with a wide range of additional features (polycystic kidney disease, cerebral malformations and several others) to delineate a growing list of OFDS subtypes. The most frequent, OFD type I, is caused by a heterozygous...
Collaborative, GlobalSurg Matthieu Peycelon
Published in
BMJ Open
Loyer, Xavier Paradis, Valérie Hénique, Carole Vion, Anne-Clémence Colnot, Nathalie Guerin, Coralie L Devue, Cécile On, Sissi Scetbun, Jérémy Romain, Mélissa
...
Published in
Gut
MicroRNA-21 inhibition or suppression decreases liver injury, inflammation and fibrosis, by restoring PPARα expression. Antagomir-21 might be a future therapeutic strategy for NASH.
Mallinson, Trudy Lotrecchiano, Gaetano R Schwartz, Lisa S Furniss, Jeremy Leblanc-Beaudoin, Tommy Lazar, Danielle Falk-Krzesinski, Holly J
Published in
Journal of investigative medicine : the official publication of the American Federation for Clinical Research
Healthcare services and the production of healthcare knowledge are increasingly dependent on highly functioning, multidisciplinary teams, requiring greater awareness of individuals' readiness to collaborate in translational science teams. Yet, there is no comprehensive tool of individual motivations and threats to collaboration that can guide prepa...
Gougelet, Angélique Sartor, Chiara Bachelot, Laura Godard, Cécile Marchiol, Carmen Gilles Renault Tores, Frédéric Patrick Nitschke Cavard, Catherine Terris, Benoit
...
Published in
Gut
Objective: Hepatocellular carcinoma (HCC) is the most prevalent primary tumour of the liver. About a third of these tumours presents activating mutations of the β-catenin gene. The molecular pathogenesis of HCC has been elucidated, but mortality remains high, and new therapeutic approaches, including treatments based on microRNAs, are required. We ...
Briand-Suleau, Audrey Laurendeau, Ingrid Chin, Magali Saugier-Veber, Pascale Vidaud, Dominique Valérie Cormier-Daire Michel Vidaud Pasmant, Eric Burglen, Lydie Tlemsani, Camille
...
Published in
Journal of Medical Genetics
Background: Heterozygous NSD1 mutations were identified in 60%-90% of patients with Sotos syndrome. Recently, mutations of the SETD2 and DNMT3A genes were identified in patients exhibiting only some Sotos syndrome features. Both NSD1 and SETD2 genes encode epigenetic 'writer' proteins that catalyse methylation of histone 3 lysine 36 (H3K36me). The ...
Gerber, Sylvie Ding, Martina G Gérard, Xavier Zwicker, Klaus Zanlonghi, Xavier Rio, Marlène Serre, Valérie Hanein, Sylvain Munnich, Arnold Agnès Rötig
...
Published in
Journal of Medical Genetics
Background: Non-syndromic hereditary optic neuropathy (HON) has been ascribed to mutations in mitochondrial fusion/fission dynamics genes, nuclear and mitochondrial DNA-encoded respiratory enzyme genes or nuclear genes of poorly known mitochondrial function. However, the disease causing gene remains unknown in many families. The objective of the pr...
Benhamouche-Trouillet, Samira Catherine Postic
Published in
Gut
Non-alcoholic fatty liver disease (NAFLD) has recently been linked to hepatocellular carcinoma (HCC) development, with or without the presence of cirrhosis, both in human disease and animal models. NAFLD is the hepatic manifestation of the metabolic syndrome associated with obesity, hyperinsulinaemia, type 2 diabetes, insulin resistance, hypertrigl...
