Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Solange Pannetier"'
Autor:
Elise Morice, Séverine Farley, Roseline Poirier, Glenn Dallerac, Carine Chagneau, Solange Pannetier, André Hanauer, Sabrina Davis, Cyrille Vaillend, Serge Laroche
Publikováno v:
Neurobiology of Disease, Vol 58, Iss , Pp 156-168 (2013)
The Coffin–Lowry syndrome (CLS) is a syndromic form of intellectual disability caused by loss-of-function of the RSK2 serine/threonine kinase encoded by the rsk2 gene. Rsk2 knockout mice, a murine model of CLS, exhibit spatial learning and memory i
Externí odkaz:
https://doaj.org/article/77281fa05613408aa5d345f70f9bf238
Publikováno v:
International Journal of Molecular Sciences, Vol 14, Iss 2, Pp 3358-3375 (2013)
The RSK2 protein is a member of the RSK serine-threonine protein kinase family and is encoded by the X-linked rps6ka3 gene in human. Highly heterogeneous loss-of-function mutations affecting this gene are responsible for a severe syndromic form of co
Externí odkaz:
https://doaj.org/article/40d6ebc538a8462a994128dbd4a427e9
Autor:
Virginie Laugel-Haushalter, Marie Paschaki, Pauline Marangoni, Coralie Pilgram, Arnaud Langer, Thibaut Kuntz, Julie Demassue, Supawich Morkmued, Philippe Choquet, André Constantinesco, Fabien Bornert, Matthieu Schmittbuhl, Solange Pannetier, Laurent Viriot, André Hanauer, Pascal Dollé, Agnès Bloch-Zupan
Publikováno v:
PLoS ONE, Vol 9, Iss 1, p e84343 (2014)
BackgroundThe RSK2 gene is responsible for Coffin-Lowry syndrome, an X-linked dominant genetic disorder causing mental retardation, skeletal growth delays, with craniofacial and digital abnormalities typically associated with this syndrome. Craniofac
Externí odkaz:
https://doaj.org/article/59354c677b234ef4aa0e1bfbf8185d97
Autor:
André Hanauer, Katia Befort, Solange Pannetier, Emmanuel Darcq, Brigitte L. Kieffer, Claire Gaveriaux-Ruff, Pascale Koebel, Megan K. Mahoney
Publikováno v:
Neuropsychopharmacology. 37:1288-1296
It has been established that mu opioid receptors activate the ERK1/2 signaling cascade both in vitro and in vivo. The Ser/Thr kinase RSK2 is a direct downstream effector of ERK1/2 and has a role in cellular signaling, cell survival growth, and differ
Publikováno v:
Journal of Neurochemistry. 119:447-459
J. Neurochem. (2011) 119, 447–459. Abstract Coffin–Lowry syndrome is a syndromic form of mental retardation caused by mutations of the Rps6ka3 gene encoding ribosomal s6 kinase (RSK)2. RSK2 belongs to a family containing four members in mammals:
Autor:
Katia Befort, André Hanauer, Brigitte L. Kieffer, Jean-Marie Garnier, Solange Pannetier, Pascale Koebel, Emmanuel Darcq, Carolina Del Boca, Anne-Sophie Kirstetter
Publikováno v:
Learning & Memory. 18:574-578
RSK2 is a Ser/Thr kinase acting in the Ras/MAPK pathway. Rsk2 gene deficiency leads to the Coffin-Lowry Syndrome, notably characterized by cognitive deficits. We found that mrsk2 knockout mice are unable to associate an aversive stimulus with context
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2008, 146A (10), pp.1267-79. ⟨10.1002/ajmg.a.32274⟩
American Journal of Medical Genetics Part A, Wiley, 2008, 146A (10), pp.1267-79. ⟨10.1002/ajmg.a.32274⟩
We have investigated the breakpoints of a balanced reciprocal translocation between chromosomes X and 5, [46,X,t(X;5)(p11.1;q31.1)], in a woman with mild mental retardation (MR). Methylation studies showed a 100% skewed X-inactivation in patient-deri
Autor:
Séverine Farley, André Hanauer, Solange Pannetier, Elise Morice, Roseline Poirier, Carine Chagneau, Glenn Dallérac, Serge Laroche, Cyrille Vaillend, Sabrina Davis
Publikováno v:
Neurobiology of Disease
Neurobiology of Disease, Elsevier, 2013, pp.156-168. ⟨10.1016/j.nbd.2013.05.016⟩
Neurobiology of Disease, Vol 58, Iss, Pp 156-168 (2013)
Neurobiology of Disease, Elsevier, 2013, pp.156-168
Neurobiology of Disease, Elsevier, 2013, pp.156-168. ⟨10.1016/j.nbd.2013.05.016⟩
Neurobiology of Disease, Vol 58, Iss, Pp 156-168 (2013)
Neurobiology of Disease, Elsevier, 2013, pp.156-168
International audience; The Coffin-Lowry syndrome (CLS) is a syndromic form of intellectual disability caused by loss-of-function of the RSK2 serine/threonine kinase encoded by the rsk2 gene. Rsk2 knockout mice, a murine model of CLS, exhibit spatial
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3aab471e58a195aaab6242733763106c
https://hal.archives-ouvertes.fr/hal-00912776
https://hal.archives-ouvertes.fr/hal-00912776
Autor:
Solange Pannetier, Sylvie Jacquot, Albert Schinzel, Karine Merienne, André Hanauer, Sandra Blumenfeld
Publikováno v:
European Journal of Human Genetics. 6:578-582
We have identified a Coffin-Lowry syndrome pedigree where the disorder is associated with a novel splice site mutation in the RSK2 gene, leading to in-phase skipping of exon 5. Western blot analysis, using an antibody directed against the C-terminus
Autor:
André Hanauer, Solange Pannetier, Gérard Champion, Elisabeth Praud, Dominique Martin-Coignard, C. Oudet
Publikováno v:
Human Genetics. 99:781-784
Mutations in the CLCN5 gene, mapped in Xp11.22, have been recently reported to be associated with X-linked nephrolithiasis, X-linked recessive hypophosphataemic rickets and Dent's disease. We report a missense mutation in exon 6 of the CLCN5 gene. Th