{"title":"[Environmental exposures and epigenome changes within the first 1000 days of life].","authors":"Johanna Lepeule, Lucile Broséus, Paulina Jedynak, Chloé Masdoumier, Claire Philippat, Ariane Guilbert, Aurélie Nakamura","doi":"10.1051/medsci/2024178","DOIUrl":"https://doi.org/10.1051/medsci/2024178","url":null,"abstract":"<p><p>Early environmental exposures can have long-term effects on child's development and health. Epigenetic modifications may partly explain these effects, and studying them could lead to significant advances in our understanding of the underlying mechanisms. This review summarises recent data on epigenetic and environmental epidemiology during the first 1000 days of life for several common exposures, including tobacco, phenols and phthalates, air pollutants, ambient temperature and vegetation.</p>","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 12","pages":"947-954"},"PeriodicalIF":0.6,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142869482","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
M S-medecine SciencesPub Date : 2024-12-01Epub Date: 2024-12-20DOI: 10.1051/medsci/2024170
Pierre Mangeol, Dominique Massey-Harroche, Michael Sebbagh, Fabrice Richard, Pierre-François Lenne, André Le Bivic
{"title":"[Zonula adherens matura: A new intestinal cell junction].","authors":"Pierre Mangeol, Dominique Massey-Harroche, Michael Sebbagh, Fabrice Richard, Pierre-François Lenne, André Le Bivic","doi":"10.1051/medsci/2024170","DOIUrl":"https://doi.org/10.1051/medsci/2024170","url":null,"abstract":"","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 12","pages":"985-988"},"PeriodicalIF":0.6,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142869333","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
M S-medecine SciencesPub Date : 2024-12-01Epub Date: 2024-12-20DOI: 10.1051/medsci/2024181
Maud de Dieuleveult, Guillaume Velasco
{"title":"[Genetic diseases of epigenetic machinery].","authors":"Maud de Dieuleveult, Guillaume Velasco","doi":"10.1051/medsci/2024181","DOIUrl":"https://doi.org/10.1051/medsci/2024181","url":null,"abstract":"<p><p>The development of sequencing technologies and their increased accessibility in clinical services and genetic laboratories have considerably accelerated the identification of genetic variants associated with rare diseases (RDs). Among these, Mendelian disorders of the epigenetic machinery (MDEM) are rare monogenic diseases characterized by the presence of mutations in genes encoding epigenetic regulators that play a key role in organismal development and cellular functions. Loss of function of these regulators is expected to lead to epigenetic modifications that profoundly affect genome expression and cellular identity. Disruptions in DNA methylation profiles have been documented in MDEMs, emerging as a useful diagnostic tool. The current challenge is to determine whether and how these epigenomic alterations drive the mechanisms underlying the clinical manifestations in patients suffering from this class of diseases. Studying MDEMs may therefore shed light on the important role of epigenetic information in health and disease, particularly the mechanisms involved in the development and understanding of complex pathologies, such as neurodevelopmental disorders and cancer.</p>","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 12","pages":"914-924"},"PeriodicalIF":0.6,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142869510","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
M S-medecine SciencesPub Date : 2024-11-01Epub Date: 2024-12-10DOI: 10.1051/medsci/2024158
Maya Law-Pois, Sophie Dupré-Crochet
{"title":"[EROS, a crucial chaperone for NADPH oxidase and the P2X7 receptor].","authors":"Maya Law-Pois, Sophie Dupré-Crochet","doi":"10.1051/medsci/2024158","DOIUrl":"https://doi.org/10.1051/medsci/2024158","url":null,"abstract":"","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 11","pages":"882-884"},"PeriodicalIF":0.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142829099","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
M S-medecine SciencesPub Date : 2024-11-01Epub Date: 2024-12-10DOI: 10.1051/medsci/2024157
Alexandra Boitard, Mélanie Gonçalves, Tala Hajar, Thomas Falguières
{"title":"[Systemic ASBT inhibition as a therapeutic target for cholestasis].","authors":"Alexandra Boitard, Mélanie Gonçalves, Tala Hajar, Thomas Falguières","doi":"10.1051/medsci/2024157","DOIUrl":"https://doi.org/10.1051/medsci/2024157","url":null,"abstract":"","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 11","pages":"879-881"},"PeriodicalIF":0.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142829235","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
M S-medecine SciencesPub Date : 2024-11-01Epub Date: 2024-12-10DOI: 10.1051/medsci/2024143
Quentin Simon, John Tchen, Nicolas Charles
{"title":"[Basophil granulocytes control pathogenic accumulation of T follicular helper cells during lupus].","authors":"Quentin Simon, John Tchen, Nicolas Charles","doi":"10.1051/medsci/2024143","DOIUrl":"https://doi.org/10.1051/medsci/2024143","url":null,"abstract":"","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 11","pages":"815-818"},"PeriodicalIF":0.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142829095","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"[Force-Velocity-Endurance (FoVE) Model: a new method for functional striated skeletal muscle in situ evaluation in murine models].","authors":"Maximilien Bowen, Christophe Hourdé, Anne-Cécile Durieux, Damien Freyssenet, Pierre Samozino, Baptiste Morel","doi":"10.1051/medsci/2024137","DOIUrl":"https://doi.org/10.1051/medsci/2024137","url":null,"abstract":"<p><p>The FoVE model is a new theoretical framework coupled with innovative modeling to evaluate the striated skeletal muscle function. The theoretical model is based on two fundamental relationships: the force-velocity relationship and the force-time relationship. These relationships describe the muscle force production capacity as a function of contraction velocity and exercise duration, respectively. By combining them, the FoVE model offers a comprehensive view of the muscle functional capacities at various velocities, with and without fatigue. A unique experimental protocol has been developed using an isokinetic force measurement system to obtain the FoVE parameters of the model. This protocol enables muscle force to be measured at various contraction velocities for a total duration of 3 minutes. Applied to mouse model, the results obtained with the FoVE model show significant differences in the functional capacity of the tibialis anterior muscle. Females have a higher normalized initial maximal force. Conversely, males have a higher initial maximum velocity capacity under fatigue conditions. This approach provides a comprehensive mapping of muscle function, surpassing traditional assessments of isometric strength. It can be applied to basic research in pre-clinical models and translational research in humans.</p>","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 Hors série n° 1 ","pages":"69-73"},"PeriodicalIF":0.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142648524","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
M S-medecine SciencesPub Date : 2024-11-01Epub Date: 2024-12-10DOI: 10.1051/medsci/2024155
Carine Amseyan, Amy Blondeau, Julien Karazi, Marie Erard
{"title":"[New Split-GFP systems to follow organelle contact sites in yeast and human cells].","authors":"Carine Amseyan, Amy Blondeau, Julien Karazi, Marie Erard","doi":"10.1051/medsci/2024155","DOIUrl":"https://doi.org/10.1051/medsci/2024155","url":null,"abstract":"","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 11","pages":"873-875"},"PeriodicalIF":0.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142829227","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}