Zobrazeno 1 - 10
of 268
pro vyhledávání: '"Yann Herault"'
Autor:
Isaac Maximiliano Bugueno, Tristan Rey, Alexandra Jimenez-Armijo, Marzena Kawczynski, Naji Kharouf, Marie-Cécile Manière, Yann Herault, Agnès Bloch-Zupan, Virginie Haushalter-Laugel
Publikováno v:
Genes and Diseases, Vol 11, Iss 5, Pp 101303- (2024)
Externí odkaz:
https://doaj.org/article/f0428c09b61143d6a0e0564a404cf2f8
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 18 (2024)
Externí odkaz:
https://doaj.org/article/6328d3f4fda440029d0628d0d205a4d2
Autor:
Chiara Lanzillotta, Monika Rataj Baniowska, Francesca Prestia, Chiara Sette, Valérie Nalesso, Marzia Perluigi, Eugenio Barone, Arnaud Duchon, Antonella Tramutola, Yann Herault, Fabio Di Domenico
Publikováno v:
Neurobiology of Disease, Vol 196, Iss , Pp 106523- (2024)
Down syndrome (DS) is the most common condition with intellectual disability and is caused by trisomy of Homo sapiens chromosome 21 (HSA21). The increased dosage of genes on HSA21 is associated with early neurodevelopmental changes and subsequently a
Externí odkaz:
https://doaj.org/article/8bbfa0072b10423083ac0ef41345ec37
Autor:
Alexandra Jimenez-Armijo, Supawich Morkmued, José Tomás Ahumada, Naji Kharouf, Yvan de Feraudy, Gergo Gogl, Fabrice Riet, Karen Niederreither, Jocelyn Laporte, Marie Christine Birling, Mohammed Selloum, Yann Herault, Magali Hernandez, Agnès Bloch-Zupan
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-18 (2024)
Abstract Kohlschütter–Tönz syndrome (KTS) is a rare autosomal recessive disorder characterized by severe intellectual disability, early-onset epileptic seizures, and amelogenesis imperfecta. Here, we present a novel Rogdi mutant mouse deleting ex
Externí odkaz:
https://doaj.org/article/9cf3b6dbe3fe4cbd80179d67cc5a236e
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:
Emmanuelle Totain, Loïc Lindner, Nicolas Martin, Yolande Misseri, Alexandra Iché, Marie-Christine Birling, Tania Sorg, Yann Herault, Alain Bousquet-Melou, Pascale Bouillé, Christine Duthoit, Guillaume Pavlovic, Severine Boullier
Publikováno v:
Laboratory Animal Research, Vol 39, Iss 1, Pp 1-15 (2023)
Abstract Background Animal models are essential to understand the physiopathology of human diseases but also to evaluate new therapies. However, for several diseases there is no appropriate animal model, which complicates the development of effective
Externí odkaz:
https://doaj.org/article/d942d7339ede45d5b5ac1aac24e653db
Autor:
Justine M. Chee, Louise Lanoue, Dave Clary, Kendall Higgins, Lynette Bower, Ann Flenniken, Ruolin Guo, David J. Adams, Fatima Bosch, Robert E. Braun, Steve D. M. Brown, H.-J. Genie Chin, Mary E. Dickinson, Chih-Wei Hsu, Michael Dobbie, Xiang Gao, Sanjeev Galande, Anne Grobler, Jason D. Heaney, Yann Herault, Martin Hrabe de Angelis, Fabio Mammano, Lauryl M. J. Nutter, Helen Parkinson, Chuan Qin, Toshi Shiroishi, Radislav Sedlacek, J-K Seong, Ying Xu, The International Mouse Phenotyping Consortium, Brian Brooks, Colin McKerlie, K. C. Kent Lloyd, Henrik Westerberg, Ala Moshiri
Publikováno v:
BMC Biology, Vol 21, Iss 1, Pp 1-15 (2023)
Abstract Background Microphthalmia, anophthalmia, and coloboma (MAC) spectrum disease encompasses a group of eye malformations which play a role in childhood visual impairment. Although the predominant cause of eye malformations is known to be herita
Externí odkaz:
https://doaj.org/article/f36d8250a6ce4896a0f38551711ec1ef
Publikováno v:
BMC Bioinformatics, Vol 24, Iss 1, Pp 1-18 (2023)
Abstract Background In individuals or animals suffering from genetic or acquired diseases, it is important to identify which clinical or phenotypic variables can be used to discriminate between disease and non-disease states, the response to treatmen
Externí odkaz:
https://doaj.org/article/39bbe89150a94398b7a0067274ca96ff
Autor:
Yifei Yang, Sam A. Booker, James M. Clegg, Idoia Quintana-Urzainqui, Anna Sumera, Zrinko Kozic, Owen Dando, Sandra Martin Lorenzo, Yann Herault, Peter C. Kind, David J. Price, Thomas Pratt
Publikováno v:
BMC Neuroscience, Vol 24, Iss 1, Pp 1-21 (2023)
Abstract Background Autism spectrum condition or ‘autism’ is associated with numerous genetic risk factors including the polygenic 16p11.2 microdeletion. The balance between excitatory and inhibitory neurons in the cerebral cortex is hypothesised
Externí odkaz:
https://doaj.org/article/94e25852ab114ae8b3fe8bb4a3c913b2
Autor:
Kendall Higgins, Bret A. Moore, Zorana Berberovic, Hibret A. Adissu, Mohammad Eskandarian, Ann M. Flenniken, Andy Shao, Denise M. Imai, Dave Clary, Louise Lanoue, Susan Newbigging, Lauryl M. J. Nutter, David J. Adams, Fatima Bosch, Robert E. Braun, Steve D. M. Brown, Mary E. Dickinson, Michael Dobbie, Paul Flicek, Xiang Gao, Sanjeev Galande, Anne Grobler, Jason D. Heaney, Yann Herault, Martin Hrabe de Angelis, Hsian-Jean Genie Chin, Fabio Mammano, Chuan Qin, Toshihiko Shiroishi, Radislav Sedlacek, J.-K. Seong, Ying Xu, The IMPC Consortium, K. C. Kent Lloyd, Colin McKerlie, Ala Moshiri
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-17 (2022)
Abstract We searched a database of single-gene knockout (KO) mice produced by the International Mouse Phenotyping Consortium (IMPC) to identify candidate ciliopathy genes. We first screened for phenotypes in mouse lines with both ocular and renal or
Externí odkaz:
https://doaj.org/article/c0d5d5cc412449dba2430740f3a4e375