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Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing.
Sevy A, Cerino M, Gorokhova S, Dionnet E, Mathieu Y, Verschueren A, Franques J, Maues de Paula A, Figarella-Branger D, Lagarde A, Desvignes JP, Béroud C, Attarian S, Levy N, Bartoli M, Krahn M, Campana-Salort E, Pouget J. Sevy A, et al. Among authors: desvignes jp. J Neurol Neurosurg Psychiatry. 2016 Mar;87(3):340-2. doi: 10.1136/jnnp-2014-309663. Epub 2015 Mar 17. J Neurol Neurosurg Psychiatry. 2016. PMID: 25783436 No abstract available.
The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia.
Mehawej C, Delahodde A, Legeai-Mallet L, Delague V, Kaci N, Desvignes JP, Kibar Z, Capo-Chichi JM, Chouery E, Munnich A, Cormier-Daire V, Mégarbané A. Mehawej C, et al. Among authors: desvignes jp. PLoS Genet. 2014 May 1;10(5):e1004311. doi: 10.1371/journal.pgen.1004311. eCollection 2014 May. PLoS Genet. 2014. PMID: 24786642 Free PMC article.
Essential requirement for β-arrestin2 in mouse intestinal tumors with elevated Wnt signaling.
Bonnans C, Flacelière M, Grillet F, Dantec C, Desvignes JP, Pannequin J, Severac D, Dubois E, Bibeau F, Escriou V, Crespy P, Journot L, Hollande F, Joubert D. Bonnans C, et al. Among authors: desvignes jp. Proc Natl Acad Sci U S A. 2012 Feb 21;109(8):3047-52. doi: 10.1073/pnas.1109457109. Epub 2012 Feb 6. Proc Natl Acad Sci U S A. 2012. PMID: 22315403 Free PMC article.
Piezo1 is required for outflow tract and aortic valve development.
Faucherre A, Moha Ou Maati H, Nasr N, Pinard A, Theron A, Odelin G, Desvignes JP, Salgado D, Collod-Béroud G, Avierinos JF, Lebon G, Zaffran S, Jopling C. Faucherre A, et al. Among authors: desvignes jp. J Mol Cell Cardiol. 2020 Jun;143:51-62. doi: 10.1016/j.yjmcc.2020.03.013. Epub 2020 Apr 3. J Mol Cell Cardiol. 2020. PMID: 32251670
Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus.
Cacciagli P, Sutera-Sardo J, Borges-Correia A, Roux JC, Dorboz I, Desvignes JP, Badens C, Delepine M, Lathrop M, Cau P, Lévy N, Girard N, Sarda P, Boespflug-Tanguy O, Villard L. Cacciagli P, et al. Among authors: desvignes jp. Am J Hum Genet. 2013 Sep 5;93(3):579-86. doi: 10.1016/j.ajhg.2013.07.023. Am J Hum Genet. 2013. PMID: 24011989 Free PMC article.
39 results