Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Lucas M. Bronicki"'
Autor:
Christine Péladeau, Nadine Adam, Lucas M. Bronicki, Adèle Coriati, Mohamed Thabet, Hasanen Al-Rewashdy, Jason Vanstone, Alan Mears, Jean-Marc Renaud, Martin Holcik, Bernard J. Jasmin
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-14 (2020)
One potential approach for the treatment of Duchenne muscular dysrophy is to increase expression of the dystrophin homolog utrophin. Here, the authors show that eEF1A2 regulates utrophin expression, and show that 2 FDA-approved drugs upregulate eEIF1
Externí odkaz:
https://doaj.org/article/6bc7a05ce66e4135bb35be45df6c5df1
Autor:
Lucas M. Bronicki, Bernard J. Jasmin
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 5 (2012)
The most characterized function of acetylcholinesterase (AChE) is to terminate cholinergic signaling at neuron-neuron and neuro-muscular synapses. In addition, AChE is causally or casually implicated in neuronal development, stress-response, cognitio
Externí odkaz:
https://doaj.org/article/3917204fb86d4c609d67ed9ae252eba6
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 169:314-327
Fractures in infancy or early childhood require prompt evaluation with consideration of accidental or non-accidental trauma as well as a large number of genetic disorders that predispose to fractures. Bone fragility has been reported in more than 100
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5eaa0a12d308137f1bf132a35d0b93bc
https://doi.org/10.1002/ajmg.c.31466
https://doi.org/10.1002/ajmg.c.31466
Autor:
Jean-Baptiste Rivière, Arthur S. Aylsworth, Murat Gunel, Christine Francannet, Sandrine Passemard, Grace Gan, Michael J. Lyons, Séverine Drunat, Julien Thevenon, Jean-Louis Mandel, Laurence Faivre, Lucas M. Bronicki, Clarisse Baumann, Amélie Piton, Bertrand Isidor, Michael J. Friez, Roger E. Stevenson, Claire Redin, Julie R. Jones, Marjolaine Willems, Joseph G. Gleeson
Publikováno v:
European journal of human genetics : EJHG. 23(11)
The dual-specificity tyrosine-phosphorylation-regulated kinase 1A (DYRK1A) gene, located on chromosome 21q22.13 within the Down syndrome critical region, has been implicated in syndromic intellectual disability associated with Down syndrome and autis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ab9efba264a80573d01b83bf1017ab3
https://pubmed.ncbi.nlm.nih.gov/25920557
https://pubmed.ncbi.nlm.nih.gov/25920557