Výsledky vyhledávání - "Solange Pannetier"

Akademický článek

Defective synaptic transmission and structure in the dentate gyrus and selective fear memory impairment in the Rsk2 mutant mouse model of Coffin–Lowry syndrome

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

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Akademický článek

RSK2 is a modulator of craniofacial development.

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

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RSK2 Signaling in Medial Habenula Contributes to Acute Morphine Analgesia

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b43764b71ac71f66f796f4a6d6fc0d9
https://doi.org/10.1038/npp.2011.316

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Altered ERK/MAPK signaling in the hippocampus of the mrsk2_KO mouse model of Coffin-Lowry syndrome

Autor: Tahir Mehmood, André Hanauer, Solange Pannetier, Anne Schneider

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:

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::21d48e1df0097f1fab00fe5a966fc0e6
https://doi.org/10.1111/j.1471-4159.2011.07423.x

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RSK2 signaling in brain habenula contributes to place aversion learning

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5427313d42286e469d8f7d71fcfcd89e
https://doi.org/10.1101/lm.2221011

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Inactivation of theCDKL3gene at 5q31.1 by a balanced t(X;5) translocation associated with nonspecific mild mental retardation

Autor: Aline Dubos, André Hanauer, Solange Pannetier

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⟩

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3862ece9b2f003bc84bd4ac9c8e2068d
https://doi.org/10.1002/ajmg.a.32274

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Germline mosaicism in Coffin-Lowry syndrome

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac3f3064c27b89deaf2b54225c642c2f
https://doi.org/10.1038/sj.ejhg.5200230

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A second family with XLRH displays the mutation S244L in the CLCN5 gene

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fbef92c4f9163b34964cbc6c4dadac4
https://doi.org/10.1007/s004390050448

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Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP)

Publikováno v: Human Molecular Genetics. 6:539-549

Mutations in the PEX gene at Xp22.1 (phosphate-regulating gene with homologies to endopeptidases, on the X-chromosome), are responsible for X-linked hypophosphataemic rickets (HYP). Homology of PEX to the M13 family of Zn 2+ metallopeptidases which i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ce4a6c89738733a6e99236d8c99d413
https://doi.org/10.1093/hmg/6.4.539

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Defective synaptic transmission and structure in the dentate gyrus and selective fear memory impairment in the Rsk2 mutant mouse model of Coffin-Lowry syndrome

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

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

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