Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Maéva, Langouët"'
Publikováno v:
Open Biology, Vol 10, Iss 9 (2020)
Prader-Willi syndrome (PWS) is caused by the loss of function of the paternally inherited 15q11-q13 locus. This region is governed by genomic imprinting, a phenomenon in which genes are expressed exclusively from one parental allele. The genomic impr
Externí odkaz:
https://doaj.org/article/8f60d06192414a5ab3ae32c3b55eb6ee
Autor:
Maéva Langouët, Christine Jolicoeur, Awais Javed, Pierre Mattar, Micah D. Gearhart, Stephen P. Daiger, Mette Bertelsen, Lisbeth Tranebjærg, Nanna D. Rendtorff, Karen Grønskov, Catherine Jespersgaard, Rui Chen, Zixi Sun, Hui Li, Najmeh Alirezaie, Jacek Majewski, Vivian J. Bardwell, Ruifang Sui, Robert K. Koenekoop, Michel Cayouette
Publikováno v:
Science Advances. 8
Many transcription factors regulating the production, survival, and function of photoreceptor cells have been identified, but little is known about transcriptional co-regulators in retinal health and disease. Here, we show that BCL6 co-repressor (BCO
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::76424388799c8d3c69b887e5c430c544
https://doi.org/10.1126/sciadv.abh2868
https://doi.org/10.1126/sciadv.abh2868
Autor:
Maéva, Langouët, Christine, Jolicoeur, Awais, Javed, Pierre, Mattar, Micah D, Gearhart, Stephen P, Daiger, Mette, Bertelsen, Lisbeth, Tranebjærg, Nanna D, Rendtorff, Karen, Grønskov, Catherine, Jespersgaard, Rui, Chen, Zixi, Sun, Hui, Li, Najmeh, Alirezaie, Jacek, Majewski, Vivian J, Bardwell, Ruifang, Sui, Robert K, Koenekoop, Michel, Cayouette
Publikováno v:
Science advances. 8(36)
Many transcription factors regulating the production, survival, and function of photoreceptor cells have been identified, but little is known about transcriptional co-regulators in retinal health and disease. Here, we show that BCL6 co-repressor (BCO
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f1f63ad03990eb0680b90dc00d2333e6
https://pubmed.ncbi.nlm.nih.gov/36070393
https://pubmed.ncbi.nlm.nih.gov/36070393
Autor:
Dea Gorka, Noelle D. Germain, Clémence M Dupont-Thibert, Stormy J. Chamberlain, Michael S Chung, Christopher E Stoddard, Marc Lalande, Leann Crandall, Heather Glatt-Deeley, Justin Cotney, Maéva Langouët, Clarisse Orniacki
Publikováno v:
Hum Mol Genet
Prader-Willi syndrome (PWS) is characterized by neonatal hypotonia, developmental delay, and hyperphagia/obesity. This disorder is caused by the absence of paternally-expressed gene products from chromosome 15q11-q13. We previously demonstrated that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e090dcc69a9af64abdc62919e92d22d8
https://doi.org/10.1093/hmg/ddaa210
https://doi.org/10.1093/hmg/ddaa210
Publikováno v:
Open Biology
Open Biology, Vol 10, Iss 9 (2020)
Open Biology, Vol 10, Iss 9 (2020)
Prader-Willi syndrome (PWS) is caused by the loss of function of the paternally inherited 15q11-q13 locus. This region is governed by genomic imprinting, a phenomenon in which genes are expressed exclusively from one parental allele. The genomic impr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55a7b11c7d3bc7c9ff370a776c7523c6
https://doi.org/10.1098/rsob.200195
https://doi.org/10.1098/rsob.200195
Autor:
Maéva Langouët, Michael S. Chung, Christopher E Stoddard, Erin Banda, Marc Lalande, Leann Crandall, Heather Glatt-Deeley, Elodie Mathieux, Clémence M Dupont-Thibert
Publikováno v:
Human Molecular Genetics. 27:505-515
Prader-Willi syndrome (PWS) is characterized by neonatal hypotonia, developmental delay and hyperphagia/obesity and is caused by the absence of paternal contribution to chromosome 15q11-q13. Using induced pluripotent stem cell (iPSC) models of PWS, w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::935c17f797a7001137ae1cd30b1814ac
https://doi.org/10.1093/hmg/ddx420
https://doi.org/10.1093/hmg/ddx420
Autor:
Steven A. Brown, Laurence Colleaux, Marlène Rio, Dennis Mircsof, Maéva Langouët, Jeanne Amiel
Publikováno v:
médecine/sciences
médecine/sciences, EDP Sciences, 2016, 32 (6-7), pp.571-573. ⟨10.1051/medsci/20163206015⟩
médecine/sciences, EDP Sciences, 2016, 32 (6-7), pp.571-573. ⟨10.1051/medsci/20163206015⟩
International audience
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a35a17f9c5a50425f3e98dd966f74eb
https://hal.archives-ouvertes.fr/hal-02142248
https://hal.archives-ouvertes.fr/hal-02142248
Autor:
Giovanna Bosshard, Steven J Moss, Christine Bole-Feysot, Jean-Marc Fritschy, Karine Siquier-Pernet, Patrick Nitschké, Olivier Alibeu, Ann-Kristina Fritz, Dennis Mircsof, David P. Wolfer, Florence Crestani, Markus Rudin, Steven A. Brown, Nathalie Boddaert, Rochelle M. Hines, Arnold Munnich, Jeanne Amiel, Petra Seebeck, Matej Žnidarič, Christina Koester, Nicolas Cagnard, Ludmila Gaspar, Maéva Langouët, Shiva K. Tyagarajan, Laurence Colleaux, Aileen Schröter, Marlène Rio, Sébastien Moutton, Katrina Prescott
Publikováno v:
Nature Neuroscience
Nature Neuroscience, Nature Publishing Group, 2015, 18 (12), pp.1731-1736. ⟨10.1038/nn.4169⟩
Nature Neuroscience, Nature Publishing Group, 2015, 18 (12), pp.1731-1736. ⟨10.1038/nn.4169⟩
The NONO protein has been characterized as an important transcriptional regulator in diverse cellular contexts. Here we show that loss of NONO function is a likely cause of human intellectual disability and that NONO-deficient mice have cognitive and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4021ff7fe23936013a6aae386fd0646
https://hal.archives-ouvertes.fr/hal-02088168
https://hal.archives-ouvertes.fr/hal-02088168
Autor:
Maéva, Langouët, Karine, Siquier-Pernet, Sylvia, Sanquer, Christine, Bole-Feysot, Patrick, Nitschke, Nathalie, Boddaert, Arnold, Munnich, Grazia M S, Mancini, Robert, Barouki, Jeanne, Amiel, Laurence, Colleaux
Publikováno v:
Molecular Genetics & Genomic Medicine
We investigated two siblings, born to consanguineous parents, with neurological features reminiscent of adaptor protein complex 4 (AP4) deficiency, an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2584b1743334043cb25529982ed5e84d
https://pubmed.ncbi.nlm.nih.gov/26029708
https://pubmed.ncbi.nlm.nih.gov/26029708
Autor:
Maile R. Brown, Roberta Cilio, Matthew R. Fleming, Laurence Colleaux, Giulia Barcia, Aline Deligniere, Isabelle Desguerre, Leonard K. Kaczmarek, Nathalie Boddaert, Avinash Abhyankar, Maéva Langouët, Patrick Nitschké, Anna Kaminska, Valeswara-Rao Gazula, Rima Nabbout, Jean-Laurent Casanova, Jack Kronengold, Haijun Chen, Olivier Dulac, Arnold Munnich
Publikováno v:
Nature Genetics
Nature Genetics, Nature Publishing Group, 2012, 44 (11), pp.1255-1259. ⟨10.1038/ng.2441⟩
Nature Genetics, Nature Publishing Group, 2012, 44 (11), pp.1255-1259. ⟨10.1038/ng.2441⟩
Malignant migrating partial seizures of infancy (MMPSI) is a rare epileptic encephalopathy of infancy that combines pharmacoresistant seizures with developmental delay. We performed exome sequencing in three probands with MMPSI and identified de novo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4224388a06e28414ce3e7cb430653ba0
https://hal.archives-ouvertes.fr/hal-02090149
https://hal.archives-ouvertes.fr/hal-02090149