Desvignes JP - Search Results

1

Aubergine iCLIP Reveals piRNA-Dependent Decay of mRNAs Involved in Germ Cell Development in the Early Embryo.

Barckmann B, Pierson S, Dufourt J, Papin C, Armenise C, Port F, Grentzinger T, Chambeyron S, Baronian G, Desvignes JP, Curk T, Simonelig M. Barckmann B, et al. Among authors: desvignes jp. Cell Rep. 2015 Aug 18;12(7):1205-16. doi: 10.1016/j.celrep.2015.07.030. Epub 2015 Aug 6. Cell Rep. 2015. PMID: 26257181 Free PMC article.

2

Uncoupling of molecular maturation from peripheral target innervation in nociceptors expressing a chimeric TrkA/TrkC receptor.

Gorokhova S, Gaillard S, Urien L, Malapert P, Legha W, Baronian G, Desvignes JP, Alonso S, Moqrich A. Gorokhova S, et al. Among authors: desvignes jp. PLoS Genet. 2014 Feb 6;10(2):e1004081. doi: 10.1371/journal.pgen.1004081. eCollection 2014 Feb. PLoS Genet. 2014. PMID: 24516396 Free PMC article.

3

Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders.

Gorokhova S, Cerino M, Mathieu Y, Courrier S, Desvignes JP, Salgado D, Béroud C, Krahn M, Bartoli M. Gorokhova S, et al. Among authors: desvignes jp. Appl Transl Genom. 2015 Sep 4;7:26-31. doi: 10.1016/j.atg.2015.07.006. eCollection 2015 Dec. Appl Transl Genom. 2015. PMID: 27054082 Free PMC article.

4

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.

5

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.

6

Coverage Analysis of Lists of Genes involved in Heterogeneous Genetic Diseases following Benchtop Exome Sequencing using the Ion Proton.

Lacoste C, Desvignes JP, Salgado D, Pecheux C, Villard L, Bartoli M, Beroud C, Levy N, Badens C, Krahn M. Lacoste C, et al. Among authors: desvignes jp. J Genet. 2016 Mar;95(1):203-8. doi: 10.1007/s12041-016-0619-0. J Genet. 2016. PMID: 27019452 Free article. No abstract available.

7

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.

8

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.

9

In-cell intrabody selection from a diverse human library identifies C12orf4 protein as a new player in rodent mast cell degranulation.

Mazuc E, Guglielmi L, Bec N, Parez V, Hahn CS, Mollevi C, Parrinello H, Desvignes JP, Larroque C, Jupp R, Dariavach P, Martineau P. Mazuc E, et al. Among authors: desvignes jp. PLoS One. 2014 Aug 14;9(8):e104998. doi: 10.1371/journal.pone.0104998. eCollection 2014. PLoS One. 2014. PMID: 25122211 Free PMC article.

10

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

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