Billuart, Pierre: search on Z-Library

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1

ROCK/PKA inhibition rescues hippocampal hyperexcitability and GABAergic neuron alterations in Oligophrenin-1 Knock-out mouse model of X-linked intellectual disability

Busti, Irene, Allegra, Manuela, Spalletti, Cristina, Panzi, Chiara, Restani, Laura, Billuart, Pierre, Caleo, Matteo

Journal:

Journal of Neuroscience

Year:

2020

Language:

english

File:

PDF, 6.08 MB

english, 2020

2

RNA Sequencing and Pathway Analysis Identify Important Pathways Involved in Hypertrichosis and Intellectual Disability in Patients with Wiedemann–Steiner Syndrome

Mietton, Léo, Lebrun, Nicolas, Giurgea, Irina, Goldenberg, Alice, Saintpierre, Benjamin, Hamroune, Juliette, Afenjar, Alexandra, Billuart, Pierre, Bienvenu, Thierry

Journal:

NeuroMolecular Medicine

Year:

2018

Language:

english

File:

PDF, 1.25 MB

english, 2018

3

The intellectual disability protein Oligophreninâ1 controls astrocyte morphology and migration

Pillet, LaureâElise, Cresto, NoÃ©mie, Saillour, Yoann, GhÃ©zali, GrÃ©gory, Bemelmans, AlexisâPierre, Livet, Jean, Bienvenu, Thierry, Rouach, Nathalie, Billuart, Pierre

Journal:

Year:

2020

Language:

english

File:

PDF, 8.13 MB

english, 2020

4

Retards mentaux liés à l’X

Billuart, Pierre, Chelly, Jamel, Gilgenkrantz, Simone

Journal:

médecine/sciences

Year:

2005

Language:

french

File:

PDF, 221 KB

french, 2005

5

Analysis of humeral head displacements from sequences of biplanar X-rays: repeatability study and preliminary results in healthy subjects

Lagacé, Pierre-Yves, Billuart, Fabien, Ohl, Xavier, Skalli, Wafa, Tétreault, Patrice, de Guise, Jacques, Hagemeister, Nicola

Journal:

Computer Methods in Biomechanics & Biomedical Engineering

Year:

2012

Language:

english

File:

PDF, 280 KB

english, 2012

6

Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A

Lebrun, Nicolas, Lebon, Sébastien, Jeannet, Pierre-Yves, Jacquemont, Sébastien, Billuart, Pierre, Bienvenu, Thierry

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 510 KB

english, 2015

7

3D morphometric analysis of 43 scapulae

Ohl, Xavier, Billuart, Fabien, Lagacé, Pierre-Yves, Gagey, Olivier, Hagemeister, Nicola, Skalli, Wafa

Journal:

Surgical and Radiologic Anatomy

Year:

2012

Language:

english

File:

PDF, 516 KB

english, 2012

8

A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation

Zemni, Ramzi, Bienvenu, Thierry, Vinet, Marie C., Sefiani, Aziz, Carrié, Alain, Billuart, Pierre, McDonell, Nathalie, Couvert, Philippe, Francis, Fiona, Chafey, Philippe

Journal:

Nature Genetics

Year:

2000

Language:

english

File:

PDF, 544 KB

english, 2000

9

A Novel CNS Gene Required for Neuronal Migration and Involved in X-Linked Subcortical Laminar Heterotopia and Lissencephaly Syndrome

Vincent des Portes, Jean Marc Pinard, Pierre Billuart, Marie Claude Vinet, Annette Koulakoff, Alain Carrié, Antoinette Gelot, Elisabeth Dupuis, Jacques Motte, Yoheved Berwald-Netter, Martin Catala, Ax

Journal:

Year:

1998

Language:

english

File:

PDF, 395 KB

english, 1998

10

The RhoGAP activity of OPHN1, a new F-actin-binding protein, is negatively controlled by its amino-terminal domain

Fabien Fauchereau, Ulrike Herbrand, Philippe Chafey, Alexander Eberth, Annette Koulakoff, Marie-Claude Vinet, Mohammad Reza Ahmadian, Jamel Chelly, Pierre Billuart

Journal:

Molecular and Cellular Neuroscience

Year:

2003

Language:

english

File:

PDF, 727 KB

english, 2003

11

A circadian clock in hippocampus is regulated by interaction between oligophrenin-1 and Rev-erbα

Valnegri, Pamela, Khelfaoui, Malik, Dorseuil, Olivier, Bassani, Silvia, Lagneaux, Celine, Gianfelice, Antonella, Benfante, Roberta, Chelly, Jamel, Billuart, Pierre, Sala, Carlo, Passafaro, Maria

Journal:

Nature Neuroscience

Year:

2011

Language:

english

File:

PDF, 1.39 MB

english, 2011

12

Pharmacological rescue of adult hippocampal neurogenesis in a mouse model of X-linked intellectual disability

Allegra, Manuela, Spalletti, Cristina, Vignoli, Beatrice, Azzimondi, Stefano, Busti, Irene, Billuart, Pierre, Canossa, Marco, Caleo, Matteo

Journal:

Neurobiology of Disease

Year:

2017

Language:

english

File:

PDF, 3.56 MB

english, 2017

13

10.1038/31940

Billuart, Pierre, Bienvenu, Thierry, Ronce, Nathalie, des Portes, Vincent, Vinet, Marie Claude, Zemni, Ramzi, Crollius, Hugues Roest, Carrie´, Alain, Fauchereau, Fabien, Cherry, Michele, Briault, Sylv

Journal:

Year:

1998

Language:

english

File:

PDF, 397 KB

english, 1998

14

A missense mutation in the CSTF2 gene that impairs the function of the RNA recognition motif and causes defects in 3â² end processing is associated with intellectual disability in humans

Grozdanov, Petar N, Masoumzadeh, Elahe, Kalscheuer, Vera M, Bienvenu, Thierry, Billuart, Pierre, Delrue, Marie-Ange, Latham, Michael P, MacDonald, Clinton C

Journal:

Nucleic Acids Research

Year:

2020

File:

PDF, 6.95 MB

2020

15

Doublecortin Interacts with μ Subunits of Clathrin Adaptor Complexes in the Developing Nervous System

Gaëlle Friocourt, Philippe Chafey, Pierre Billuart, Annette Koulakoff, Marie-Claude Vinet, Bruce T. Schaar, Susan K. McConnell, Fiona Francis, Jamel Chelly

Journal:

Molecular and Cellular Neuroscience

Year:

2001

Language:

english

File:

PDF, 661 KB

english, 2001

16

Regulating Axon Branch Stability: The Role of p190 RhoGAP in Repressing a Retraction Signaling Pathway

Pierre Billuart, Christopher G. Winter, Alison Maresh, Xuesong Zhao, Liqun Luo

Journal:

Year:

2001

Language:

english

File:

PDF, 1.55 MB

english, 2001

17

Somatic Mutations of the β -catenin Gene are Frequent in Mouse and Human Hepatocellular Carcinomas

Alix De La Coste, Beatrice Romagnolo, Pierre Billuart, Claire-Angelique Renard, Marie-Annick Buendia, Olivier Soubrane, Monique Fabre, Jamel Chelly, Cherif Beldjord, Axel Kahn and Christine Perret

Journal:

Proceedings of the National Academy of Sciences

Year:

1998

Language:

english

File:

PDF, 1.34 MB

english, 1998

18

Astrocyte Transcriptome from the Mecp2308-Truncated Mouse Model of Rett Syndrome

Delépine, Chloé, Nectoux, Juliette, Letourneur, Franck, Baud, Véronique, Chelly, Jamel, Billuart, Pierre, Bienvenu, Thierry

Journal:

NeuroMolecular Medicine

Year:

2015

Language:

english

File:

PDF, 611 KB

english, 2015

19

Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome

Lebrun, Nicolas, Giurgea, Irina, Goldenberg, Alice, Dieux, Anne, Afenjar, Alexandra, Ghoumid, Jamal, Diebold, Bertrand, Mietton, Léo, Briand-Suleau, Audrey, Billuart, Pierre, Bienvenu, Thierry

Journal:

European Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 1.53 MB

english, 2017

20

Novel KDM5B splice variants identified in patients with developmental disorders: Functional consequences

Lebrun, Nicolas, Mehler-Jacob, Claire, Poirier, Karine, Zordan, Cecile, Lacombe, Didier, Carion, Nathalie, Billuart, Pierre, Bienvenu, Thierry

Journal:

Year:

2018

Language:

english

File:

PDF, 4.62 MB

english, 2018

21

Do Astrocytes Play a Role in Intellectual Disabilities?

Cresto, Noémie, Pillet, Laure-Elise, Billuart, Pierre, Rouach, Nathalie

Journal:

Trends in Neurosciences

Year:

2019

Language:

english

File:

PDF, 1.11 MB

english, 2019

22

From Fragile X Mental Retardation Protein to Rac1 GTPase: New Insights from Fly CYFIP

Pierre Billuart, Jamel Chelly

Journal:

Year:

2003

Language:

english

File:

PDF, 60 KB

english, 2003

23

Il-38 Restricts Skin Inflammation and Anti-Tumor Immunity by Limiting Il-17 Production from γδ T Cells

Han, Yingying, Mora, Javier, Putyrski, Mateusz, Huard, Arnaud, da Silva, Priscila, Scholz, Anica, Elwakeel, Eiman, Lang, Guangping, Scholz, Tatjana, Schmid, Tobias, de Bruin, Natasja, Billuart, Pierre

Journal:

SSRN Electronic Journal

Year:

2018

Language:

english

File:

PDF, 2.38 MB

english, 2018

24

Sa2086 The Rho-GTPase Activating Protein Oligophrenin-1 as a Novel Regulator of Neuron-Macrophage Communication in the Intestine

Verheijden, Simon, De Schepper, Sebastiaan, Billuart, Pierre, Berghe, Pieter Vanden, Boeckxstaens, Guy E.

Journal:

Gastroenterology

Year:

2016

Language:

english

File:

PDF, 454 KB

english, 2016

25

Oligophrenin-1 regulates number, morphology and synaptic properties of adult-born inhibitory interneurons in the olfactory bulb

Redolfi, Nelly, Galla, Luisa, Maset, Andrea, Murru, Luca, Savoia, Eleonora, Zamparo, Ilaria, Gritti, Angela, Billuart, Pierre, Passafaro, Maria, Lodovichi, Claudia

Journal:

Human Molecular Genetics

Year:

2016

Language:

english

File:

PDF, 1.44 MB

english, 2016

26

Loss of Function of KCNC1 is associated with intellectual disability without seizures

Poirier, Karine, Viot, Géraldine, Lombardi, Laura, Jauny, Clémence, Billuart, Pierre, Bienvenu, Thierry

Journal:

European Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 317 KB

english, 2017

27

Construction of a highly annotated cosmid contig spanning 550Kb within the X-linked nonspecific mental retardation candidate region at Xp21.3-22.1

Carri�, Alain, Nepotes, Virginie, Billuart, Pierre, Beldjord, Ch�rif, Bienvenu, Thierry, Chelly, Jamel, Bruls, Thomas, Heilig, Roland, Weissenbach, Jean, Jun, Lin, Marynen, Peter

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 72 KB

english, 1999

28

Rapid reversal of impaired inhibitory and excitatory transmission but not spine dysgenesis in a mouse model of mental retardation

Andrew D. Powell, Kalbinder K. Gill, Pierre-Philippe Saintot, Premysl Jiruska, Jamel Chelly, Pierre Billuart, John G. R. Jefferys

Journal:

The Journal of Physiology

Year:

2012

Language:

english

File:

PDF, 1.43 MB

english, 2012

29

Differential Expression and Regulation of Brain-Derived Neurotrophic Factor (BDNF) mRNA Isoforms in Brain Cells from Mecp2308/yMouse Model

Rousseaud, Audrey, Delépine, Chloé, Nectoux, Juliette, Billuart, Pierre, Bienvenu, Thierry

Journal:

Journal of Molecular Neuroscience

Year:

2015

Language:

english

File:

PDF, 391 KB

english, 2015

30

Neuronal JNK pathway activation by IL-1 is mediated through IL1RAPL1, a protein required for development of cognitive functions

Pavlowsky, Alice, Zanchi, Alice, Pallotto, Marta, Giustetto, Maurizio, Chelly, Jamel, Sala, Carlo, Billuart, Pierre

Journal:

Communicative & Integrative Biology

Year:

2010

Language:

english

File:

PDF, 420 KB

english, 2010

31

Un rÃ´le pour les astrocytes dans les dÃ©ficiences intellectuelles ?

Cresto, NoÃ©mie, Billuart, Pierre, Rouach, Nathalie

Journal:

Year:

2020

File:

PDF, 830 KB

2020

32

Gene for nonspecific X-linked mental retardation (MRX 47) is located in Xq22.3-q24

des Portes, Vincent, Soufir, Nadem, Carrié, Alain, Billuart, Pierre, Bienvenu, Thierry, Vinet, Marie Claude, Beldjord, Cherif, Ponsot, Gérard, Kahn, Axel, Boué, Joelle, Chelly, Jamel

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 84 KB

english, 1997

33

IL1RAPL1 controls inhibitory networks during cerebellar development in mice

Frédéric Gambino, Marie Kneib, Alice Pavlowsky, Henriette Skala, Stéphane Heitz, Nicolas Vitale, Bernard Poulain, Malik Khelfaoui, Jamel Chelly, Pierre Billuart, Yann Humeau

Journal:

European Journal of Neuroscience

Year:

2009

Language:

english

File:

PDF, 935 KB

english, 2009

34

Oligophrenin1 protects mice against myocardial ischemia and reperfusion injury by modulating inflammation and myocardial apoptosis

Niermann, Christina, Gorressen, Simone, Klier, Meike, Gowert, Nina S., Billuart, Pierre, Kelm, Malte, Merx, Marc W., Elvers, Margitta

Journal:

Cellular Signalling

Year:

2016

Language:

english

File:

PDF, 1.33 MB

english, 2016

35

Crystallization of Nanodomains in Polyethylene Latexes

Brunel, Fabrice, Billuart, Guilhem, Dugas, Pierre-Yves, Lansalot, Muriel, Bourgeat-Lami, Elodie, Monteil, Vincent

Journal:

Year:

2017

Language:

english

File:

PDF, 1.56 MB

english, 2017

36

Highly Sensitive and Efficient Computer‐Assisted System for Routine Surveillance for Surgical Site Infection •

Chalfine, Annie, Cauet, Daniel, Lin, Wei Chi, Gonot, Jacqueline, Calvo‐Verjat, Nadine, Dazza, Francois‐Emile, Billuart, Olivier, Kitzis, Marie Dominique, Bleriot, Jean Pierre, Pibarot, Marie Laure

Journal:

Infection Control and Hospital Epidemiology

Year:

2006

Language:

english

File:

PDF, 992 KB

english, 2006

37

Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family

Filomena Pirozzi, Francesca Romana Di Raimo, Ginevra Zanni, Enrico Bertini, Pierre Billuart, Tommaso Tartaglione, Elisabetta Tabolacci, Andrea Brancaccio, Giovanni Neri, Pietro Chiurazzi

Journal:

Year:

2011

Language:

english

File:

PDF, 1.98 MB

english, 2011

38

Robustness and Reproducibility of a Glenoid-Centered Scapular Coordinate System Derived from Low-Dose Stereoradiography Analysis

Ohl, Xavier, Lagacé, Pierre-Yves, Billuart, Fabien, Gagey, Olivier, Skalli, Wafa, Hagemeister, Nicola

Journal:

Journal of Applied Biomechanics

Year:

2015

Language:

english

File:

PDF, 532 KB

english, 2015

39

Protein Kinase A deregulation in the medial prefrontal cortex impairs working memory in murine Oligophrenin1 deficiency

Zhang, Chun-Lei, Aime, Mattia, Laheranne, Emilie, Houbaert, Xander, El Oussini, Hajer, Martin, Christelle, Lepleux, Marilyn, Normand, Elisabeth, Chelly, Jamel, Herzog, Etienne, Billuart, Pierre, Humea

Journal:

Journal of Neuroscience

Year:

2017

Language:

english

File:

PDF, 3.50 MB

english, 2017

40

Determination of the gene structure of human oligophrenin-1 and identification of three novel polymorphisms by screening of DNA from 164 patients with non-specific X-linked mental retardation

Pierre Billuart, Jamel Chelly, Alain Carrié, Marie-Claude Vinet, Philippe Couvert, Nathalie McDonell, Ramzi Zemni, Axel Kahn, Claude Moraine, Cherif Beldjord, Thierry Bienvenu

Journal:

Annales de Génétique

Year:

2000

Language:

english

File:

PDF, 58 KB

english, 2000

41

Investigation of 3D glenohumeral displacements from 3D reconstruction using biplane X-ray images: Accuracy and reproducibility of the technique and preliminary analysis in rotator cuff tear patients

Zhang, Cheng, Skalli, Wafa, Lagacé, Pierre-Yves, Billuart, Fabien, Ohl, Xavier, Cresson, Thierry, Bureau, Nathalie J., Rouleau, Dominique M., Roy, André, Tétreault, Patrice, Sauret, Christophe, de Gui

Journal:

Journal of Electromyography and Kinesiology

Year:

2015

Language:

english

File:

PDF, 1.91 MB

english, 2015

42

CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy

Poirier, Karine, Hubert, Laurence, Viot, Géraldine, Rio, Marlène, Billuart, Pierre, Besmond, Claude, Bienvenu, Thierry

Journal:

Year:

2017

Language:

english

File:

PDF, 1.53 MB

english, 2017

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