Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Perrine F. Kretz"'
Autor:
Perrine F. Kretz, Christel Wagner, Anna Mikhaleva, Charlotte Montillot, Sylvain Hugel, Ilaria Morella, Meghna Kannan, Marie-Christine Fischer, Maxence Milhau, Ipek Yalcin, Riccardo Brambilla, Mohammed Selloum, Yann Herault, Alexandre Reymond, Stephan C. Collins, Binnaz Yalcin
Publikováno v:
Genome Biology, Vol 24, Iss 1, Pp 1-22 (2023)
Abstract Background Using mouse genetic studies and systematic assessments of brain neuroanatomical phenotypes, we set out to identify which of the 30 genes causes brain defects at the autism-associated 16p11.2 locus. Results We show that multiple ge
Externí odkaz:
https://doaj.org/article/37637093eaea40888cb9b6562d451f96
Autor:
Maria O. Levitin, Lettie E Rawlins, Gabriela Sanchez-Andrade, Osama A. Arshad, Stephan C. Collins, Stephen J. Sawiak, Phillip H. Iffland, Malin H.L. Andersson, Caleb Bupp, Emma L. Cambridge, Eve L. Coomber, Ian Ellis, Johanna C. Herkert, Holly Ironfield, Logan Jory, Perrine F. Kretz, Sarina G. Kant, Alexandra Neaverson, Esther Nibbeling, Christine Rowley, Emily Relton, Mark Sanderson, Ethan M. Scott, Helen Stewart, Andrew Y. Shuen, John Schreiber, Liz Tuck, James Tonks, Thorkild Terkelsen, Conny van Ravenswaaij-Arts, Pradeep Vasudevan, Olivia Wenger, Michael Wright, Andrew Day, Adam Hunter, Minal Patel, Christopher J. Lelliott, Peter B. Crino, Binnaz Yalcin, Andrew Crosby, Emma L. Baple, Darren W. Logan, Matthew E. Hurles, Sebastian S. Gerety
KPTN-related disorder (KRD) is an autosomal recessive disorder associated with germline variants in KPTN (kaptin), a component of the mTOR regulatory complex KICSTOR. To gain further insights into the pathogenesis of KRD, we analysed mouse knockout a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c4cbb0278fd0279fd1689af80476ba3a
https://doi.org/10.1101/2022.07.15.500213
https://doi.org/10.1101/2022.07.15.500213
Autor:
Perrine F. Kretz, Christel Wagner, Charlotte Montillot, Sylvain Hugel, Ilaria Morella, Meghna Kannan, Anna Mikhaleva, Marie-Christine Fischer, Maxence Milhau, Riccardo Brambilla, Yann Herault, Alexandre Reymond, Mohammed Selloum, Stephan C. Collins, Binnaz Yalcin
Using mouse genetic studies, we set out to identify which of the 30 genes causes brain size and other NeuroAnatomical Phenotypes (NAPs) at the autism-associated 16p11.2 locus. We show that multiple genes mapping to this region interact to regulate br
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::962d0697a37ccc6705b1642f19fb8c36
https://doi.org/10.1101/2022.01.23.477432
https://doi.org/10.1101/2022.01.23.477432
Autor:
Pascal Kessler, Stephan C. Collins, Perrine F. Kretz, Christel Wagner, Marie-Christine Fischer, Meghna Kannan, Léo Gagliardi, Binnaz Yalcin
Publikováno v:
Current Protocols in Mouse Biology
Current Protocols in Mouse Biology, 2018, 8 (3), pp.e48. ⟨10.1002/cpmo.48⟩
Current Protocols in Mouse Biology, Wiley Online Library, 2018, 8 (3), pp.e48. ⟨10.1002/cpmo.48⟩
Current Protocols in Mouse Biology, 2018, 8 (3), pp.e48. ⟨10.1002/cpmo.48⟩
Current Protocols in Mouse Biology, Wiley Online Library, 2018, 8 (3), pp.e48. ⟨10.1002/cpmo.48⟩
In this article, we present a standardized protocol for fast and robust neuroanatomical phenotyping of the adult mouse brain, which complements a previously published article (doi: 10.1002/cpmo.12) in Current Protocols in Mouse Biology. It is aimed a
Autor:
David J. Adams, Jamel Chelly, Lara Mcgillewie, Christel Wagner, Ben Loos, Bruno Rinaldi, Sylvie Friant, Stephan C. Collins, Craig J. Kinnear, Perrine F. Kretz, Renato Borgatti, Yann Herault, Jean-Louis Mandel, Juliette D. Godin, Efil Bayam, Binnaz Yalcin, Chrystelle Po, Meghna Kannan, Marna Roos, Shilpi Minocha, Séverine Bär, Peggy Tilly, Claire Chevalier, Amélie Piton
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, 2017, 114 (44), pp.E9308-E9317. ⟨10.1073/pnas.1713625114⟩
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2017, 114 (44), pp.E9308-E9317. ⟨10.1073/pnas.1713625114⟩
Proceedings of the National Academy of Sciences of the United States of America, 2017, 114 (44), pp.E9308-E9317. ⟨10.1073/pnas.1713625114⟩
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2017, 114 (44), pp.E9308-E9317. ⟨10.1073/pnas.1713625114⟩
International audience; The family of WD40-repeat (WDR) proteins is one of the largest in eukaryotes, but little is known about their function in brain development. Among 26 WDR genes assessed, we found 7 displaying a major impact in neuronal morphol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ad6c1d227ee13cf001c08499b8a0e19
https://hal.science/hal-02378716
https://hal.science/hal-02378716