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Biallelic CAV1 null variants induce congenital generalized lipodystrophy with achalasia

Autor: Olivier Lascols, Asuman Nur Karhan, Jamila Zammouri, Jocelyne Magré, Isabelle Jéru, Fehmi Ates, Marie-Christine Verpont, Bruno Fève, Martine Auclair, Yusuf Usta, E. Capel, Feramuz Demir Apaydin, Corinne Vigouroux

Publikováno v: European journal of endocrinology. 185(6)

Objective CAV1 encodes caveolin-1, a major protein of plasma membrane microdomains called caveolae, involved in several signaling pathways. Caveolin-1 is also located at the adipocyte lipid droplet. Heterozygous pathogenic variants of CAV1 induce rar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc1489f5b09726ed490c51c911322b9f
https://pubmed.ncbi.nlm.nih.gov/34643546

A factor analysis approach to modelling the early diversification of terrestrial vegetation

Autor: Philippe Gerrienne, Christopher J. Cleal, Borja Cascales-Miñana, E. Capel, Thomas Servais

Publikováno v: Palaeogeography, Palaeoclimatology, Palaeoecology
Palaeogeography, Palaeoclimatology, Palaeoecology, 2021, 566, pp.110170. ⟨10.1016/j.palaeo.2020.110170⟩
Palaeogeography, Palaeoclimatology, Palaeoecology, Elsevier, 2021, 566, pp.110170. ⟨10.1016/j.palaeo.2020.110170⟩

International audience; Data from a new comprehensive macrofossil-based compilation of early plant genera are analyzed via a Q-mode factor analysis. This compilation ranges from the Silurian to the earliest Carboniferous and illustrates the key veget

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88d02da71e4590910e80f92f6cf70bea
https://hal.science/hal-03331136/document

Les mutations d’EPHX1 sont responsables de diabète lipoatrophique, consécutif à une altération de l’hydrolyse des époxydes et à une sénescence cellulaire accrue

Autor: B. Cerame, C. Morisseau, F. Phan, J. Zammouri, Fabrizio Andreelli, W. Chung, B. Fève, E. Capel, G. Baujat, Corinne Vigouroux, C. Moulin, Y. Wang, J. Gautheron, J. Yang, Martine Auclair, Isabelle Jéru, B. Hammock

Publikováno v: Annales d'Endocrinologie. 82:266

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::63c9a2b531e45b4f695851d6aa0ea357
https://doi.org/10.1016/j.ando.2021.08.037