In press

Mevalonate kinase-associated diseases: hunting for phenotype–genotype correlation
Guilaine Boursier, Cécile Rittore, Florian Milhavet, Laurence Cuisset, Isabelle Touitou
J CLIN MED - 2021

 

2021 Voir une autre année ?

LACC1 deficiency links juvenile arthritis with autophagy and metabolism in macrophages.
Omarjee O, Mathieu AL, Quiniou G, Moreews M, Ainouze M, Frachette C, Melki I, Dumaine C, Gerfaud-Valentin M, Duquesne A, Kallinich T, Tahir Turanli E, Malcus C, Viel S, Pescarmona R, Georgin-Lavialle S, Jamilloux Y, Larbre JP, Sarrabay G, Magnotti F, Rice GI, Bleicher F, Reboulet J, Merabet S, Henry T, Crow YJ, Faure M, Walzer T, Belot A.
J Exp Med, 2021 Mar 1. pii: e20201006. doi: 10.1084/jem.20201006.
PubMed

TNFR1-d2 carrying the p.(Thr79Met) pathogenic variant is a potential novel actor of TNFα/TNFR1 signalling regulation in the pathophysiology of TRAPS.
Rittore C, Méchin D, Sanchez E, Marinèche L, Ea V, Soler S, Vereecke M, Mallavialle A, Richard E, Duroux-Richard I, Apparailly F, Touitou I, Grandemange S.
Sci Rep, 2021 Feb 18. 11(1):4172. doi: 10.1038/s41598-021-83539-9. Epub 2021 Feb 18.
PubMed