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Pierre Billuart

Showing results (21-30 of 45) with videos related to

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Glia|February 20, 2020
The intellectual disability protein Oligophrenin-1 controls astrocyte morphology and migrationLaure-Elise Pillet, Noémie Cresto, Yoann Saillour, et al.
Human Molecular Genetics|October 16, 2016
Oligophrenin-1 regulates number, morphology and synaptic properties of adult-born inhibitory interneurons in the olfactory bulbNelly Redolfi, Luisa Galla, Andrea Maset, et al.
Molecular and Cellular Neurosciences|August 23, 2003
The RhoGAP activity of OPHN1, a new F-actin-binding protein, is negatively controlled by its amino-terminal domainFabien Fauchereau, Ulrike Herbrand, Philippe Chafey, et al.
Nucleic Acids Research|August 21, 2020
A missense mutation in the CSTF2 gene that impairs the function of the RNA recognition motif and causes defects in 3' end processing is associated with intellectual disability in humansPetar N Grozdanov, Elahe Masoumzadeh, Vera M Kalscheuer, et al.
The European Journal of Neuroscience|October 9, 2009
IL1RAPL1 controls inhibitory networks during cerebellar development in miceFrédéric Gambino, Marie Kneib, Alice Pavlowsky, et al.
Nature Neuroscience|August 30, 2011
A circadian clock in hippocampus is regulated by interaction between oligophrenin-1 and Rev-erbαPamela Valnegri, Malik Khelfaoui, Olivier Dorseuil, et al.
Human Mutation|July 29, 2011
Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian familyFilomena Pirozzi, Francesca Romana Di Raimo, Ginevra Zanni, et al.
European Journal of Human Genetics : EJHG|December 6, 2017
Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndromeNicolas Lebrun, Irina Giurgea, Alice Goldenberg, et al.
Human Molecular Genetics|October 12, 2014
OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cellsRodrick Montjean, Rifdat Aoidi, Pierrette Desbois, et al.
Human Molecular Genetics|April 30, 2009
Inhibition of RhoA pathway rescues the endocytosis defects in Oligophrenin1 mouse model of mental retardationMalik Khelfaoui, Alice Pavlowsky, Andrew D Powell, et al.
Pageof 5

Showing results (21-30 of 45) with videos related to

Sort By:
Pageof 5
Glia|February 20, 2020
The intellectual disability protein Oligophrenin-1 controls astrocyte morphology and migrationLaure-Elise Pillet, Noémie Cresto, Yoann Saillour, et al.
Human Molecular Genetics|October 16, 2016
Oligophrenin-1 regulates number, morphology and synaptic properties of adult-born inhibitory interneurons in the olfactory bulbNelly Redolfi, Luisa Galla, Andrea Maset, et al.
Molecular and Cellular Neurosciences|August 23, 2003
The RhoGAP activity of OPHN1, a new F-actin-binding protein, is negatively controlled by its amino-terminal domainFabien Fauchereau, Ulrike Herbrand, Philippe Chafey, et al.
Nucleic Acids Research|August 21, 2020
A missense mutation in the CSTF2 gene that impairs the function of the RNA recognition motif and causes defects in 3' end processing is associated with intellectual disability in humansPetar N Grozdanov, Elahe Masoumzadeh, Vera M Kalscheuer, et al.
The European Journal of Neuroscience|October 9, 2009
IL1RAPL1 controls inhibitory networks during cerebellar development in miceFrédéric Gambino, Marie Kneib, Alice Pavlowsky, et al.
Nature Neuroscience|August 30, 2011
A circadian clock in hippocampus is regulated by interaction between oligophrenin-1 and Rev-erbαPamela Valnegri, Malik Khelfaoui, Olivier Dorseuil, et al.
Human Mutation|July 29, 2011
Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian familyFilomena Pirozzi, Francesca Romana Di Raimo, Ginevra Zanni, et al.
European Journal of Human Genetics : EJHG|December 6, 2017
Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndromeNicolas Lebrun, Irina Giurgea, Alice Goldenberg, et al.
Human Molecular Genetics|October 12, 2014
OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cellsRodrick Montjean, Rifdat Aoidi, Pierrette Desbois, et al.
Human Molecular Genetics|April 30, 2009
Inhibition of RhoA pathway rescues the endocytosis defects in Oligophrenin1 mouse model of mental retardationMalik Khelfaoui, Alice Pavlowsky, Andrew D Powell, et al.
Pageof 5