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Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe Syndrome.
Hum Mutat. 2017 Feb;38(2):152-159. doi: 10.1002/humu.23139. Epub 2016 Nov 21.
Hum Mutat. 2017.
PMID: 27790796
OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells.
Montjean R, Aoidi R, Desbois P, Rucci J, Trichet M, Salomon R, Rendu J, Fauré J, Lunardi J, Gacon G, Billuart P, Dorseuil O.
Montjean R, et al.
Hum Mol Genet. 2015 Feb 15;24(4):994-1006. doi: 10.1093/hmg/ddu514. Epub 2014 Oct 9.
Hum Mol Genet. 2015.
PMID: 25305077
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Iodide transporter NIS regulates cancer cell motility and invasiveness by interacting with the Rho guanine nucleotide exchange factor LARG.
Lacoste C, Hervé J, Bou Nader M, Dos Santos A, Moniaux N, Valogne Y, Montjean R, Dorseuil O, Samuel D, Cassio D, Portulano C, Carrasco N, Bréchot C, Faivre J.
Lacoste C, et al. Among authors: montjean r.
Cancer Res. 2012 Nov 1;72(21):5505-15. doi: 10.1158/0008-5472.CAN-12-0516. Epub 2012 Sep 7.
Cancer Res. 2012.
PMID: 22962269
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Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse.
Ung DC, Iacono G, Méziane H, Blanchard E, Papon MA, Selten M, van Rhijn JR, Montjean R, Rucci J, Martin S, Fleet A, Birling MC, Marouillat S, Roepman R, Selloum M, Lux A, Thépault RA, Hamel P, Mittal K, Vincent JB, Dorseuil O, Stunnenberg HG, Billuart P, Nadif Kasri N, Hérault Y, Laumonnier F.
Ung DC, et al. Among authors: montjean r.
Mol Psychiatry. 2018 May;23(5):1356-1367. doi: 10.1038/mp.2017.39. Epub 2017 Apr 18.
Mol Psychiatry. 2018.
PMID: 28416808
Free PMC article.
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X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
Hu H, Haas SA, Chelly J, Van Esch H, Raynaud M, de Brouwer AP, Weinert S, Froyen G, Frints SG, Laumonnier F, Zemojtel T, Love MI, Richard H, Emde AK, Bienek M, Jensen C, Hambrock M, Fischer U, Langnick C, Feldkamp M, Wissink-Lindhout W, Lebrun N, Castelnau L, Rucci J, Montjean R, Dorseuil O, Billuart P, Stuhlmann T, Shaw M, Corbett MA, Gardner A, Willis-Owen S, Tan C, Friend KL, Belet S, van Roozendaal KE, Jimenez-Pocquet M, Moizard MP, Ronce N, Sun R, O'Keeffe S, Chenna R, van Bömmel A, Göke J, Hackett A, Field M, Christie L, Boyle J, Haan E, Nelson J, Turner G, Baynam G, Gillessen-Kaesbach G, Müller U, Steinberger D, Budny B, Badura-Stronka M, Latos-Bieleńska A, Ousager LB, Wieacker P, Rodríguez Criado G, Bondeson ML, Annerén G, Dufke A, Cohen M, Van Maldergem L, Vincent-Delorme C, Echenne B, Simon-Bouy B, Kleefstra T, Willemsen M, Fryns JP, Devriendt K, Ullmann R, Vingron M, Wrogemann K, Wienker TF, Tzschach A, van Bokhoven H, Gecz J, Jentsch TJ, Chen W, Ropers HH, Kalscheuer VM.
Hu H, et al. Among authors: montjean r.
Mol Psychiatry. 2016 Jan;21(1):133-48. doi: 10.1038/mp.2014.193. Epub 2015 Feb 3.
Mol Psychiatry. 2016.
PMID: 25644381
Free PMC article.
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INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.
Boyer O, Nevo F, Plaisier E, Funalot B, Gribouval O, Benoit G, Huynh Cong E, Arrondel C, Tête MJ, Montjean R, Richard L, Karras A, Pouteil-Noble C, Balafrej L, Bonnardeaux A, Canaud G, Charasse C, Dantal J, Deschenes G, Deteix P, Dubourg O, Petiot P, Pouthier D, Leguern E, Guiochon-Mantel A, Broutin I, Gubler MC, Saunier S, Ronco P, Vallat JM, Alonso MA, Antignac C, Mollet G.
Boyer O, et al. Among authors: montjean r.
N Engl J Med. 2011 Dec 22;365(25):2377-88. doi: 10.1056/NEJMoa1109122.
N Engl J Med. 2011.
PMID: 22187985
Free article.
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Inversin/Nephrocystin-2 is required for fibroblast polarity and directional cell migration.
Veland IR, Montjean R, Eley L, Pedersen LB, Schwab A, Goodship J, Kristiansen K, Pedersen SF, Saunier S, Christensen ST.
Veland IR, et al. Among authors: montjean r.
PLoS One. 2013 Apr 8;8(4):e60193. doi: 10.1371/journal.pone.0060193. Print 2013.
PLoS One. 2013.
PMID: 23593172
Free PMC article.
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REG-O3 chimeric peptide combining growth hormone and somatostatin sequences improves joint function and prevents cartilage degradation in rat model of traumatic knee osteoarthritis.
Montjean R, Escaich S, Paolini R, Carelli C, Pirson S, Neutelings T, Henrotin Y, Vêtu C.
Montjean R, et al.
PLoS One. 2020 Apr 14;15(4):e0231240. doi: 10.1371/journal.pone.0231240. eCollection 2020.
PLoS One. 2020.
PMID: 32287299
Free PMC article.
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