PMC Links for Gene (Select 317268) - PMC

Select item 66708011.

Cell-Autonomous Roles of ARX in Cell Proliferation and Neuronal Migration during Corticogenesis

Gaëlle Friocourt, Shigeaki Kanatani, Hidenori Tabata, Masato Yozu, Takao Takahashi, Mary Antypa, Odile Raguénès, Jamel Chelly, Claude Férec, Kazunori Nakajima, John G. Parnavelas

J Neurosci. 2008 May 28; 28(22): 5794–5805. doi: 10.1523/JNEUROSCI.1067-08.2008

PMCID:: PMC6670801

Abstract Article PDF–26M

Select item 40162612.

The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia

Aurore Curie, Tatjana Nazir, Amandine Brun, Yves Paulignan, Anne Reboul, Karine Delange, Anne Cheylus, Sophie Bertrand, Fanny Rochefort, Gérald Bussy, Stéphanie Marignier, Didier Lacombe, Catherine Chiron, Mireille Cossée, Bruno Leheup, Christophe Philippe, Vincent Laugel, Anne De Saint Martin, Silvia Sacco, Karine Poirier, Thierry Bienvenu, Isabelle Souville, Brigitte Gilbert-Dussardier, Eric Bieth, Didier Kauffmann, Philippe Briot, Bénédicte de Fréminville, Fabienne Prieur, Michel Till, Caroline Rooryck-Thambo, Isabelle Mortemousque, Isabelle Bobillier-Chaumont, Annick Toutain, Renaud Touraine, Damien Sanlaville, Jamel Chelly, Sonya Freeman, Jian Kong, Nouchine Hadjikhani, Randy L Gollub, Alice Roy, Vincent des Portes

Orphanet J Rare Dis. 2014; 9: 25. Published online 2014 Feb 14. doi: 10.1186/1750-1172-9-25

PMCID:: PMC4016261

Abstract Article PDF–2.9M

Select item 26859243.

Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females

Eric Marsh, Carl Fulp, Ernest Gomez, Ilya Nasrallah, Jeremy Minarcik, Jyotsna Sudi, Susan L. Christian, Grazia Mancini, Patricia Labosky, William Dobyns, Amy Brooks-Kayal, Jeffrey A. Golden

Brain. 2009 Jun; 132(6): 1563–1576. Published online 2009 May 12. doi: 10.1093/brain/awp107

PMCID:: PMC2685924

Abstract Article PDF–863K

Select item 11423154.

XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene

Monica L Stepp, A Lauren Cason, Merran Finnis, Marie Mangelsdorf, Elke Holinski-Feder, David Macgregor, Andrée MacMillan, Jeanette JA Holden, Jozef Gecz, Roger E Stevenson, Charles E Schwartz

BMC Med Genet. 2005; 6: 16. Published online 2005 Apr 25. doi: 10.1186/1471-2350-6-16

PMCID:: PMC1142315

Abstract Article PDF–256K

Select item 27825695.

A Triplet Repeat Expansion Genetic Mouse Model of Infantile Spasms Syndrome, Arx^(GCG)10+7, with Interneuronopathy, Spasms in Infancy, Persistent Seizures, and Adult Cognitive and Behavioral Impairment

Maureen G. Price, Jong W. Yoo, Daniel L. Burgess, Fang Deng, Richard A. Hrachovy, James D. Frost, Jr, Jeffrey L. Noebels

J Neurosci. 2009 Jul 8; 29(27): 8752–8763. doi: 10.1523/JNEUROSCI.0915-09.2009

PMCID:: PMC2782569

Abstract Article PDF–4.0M

Select item 35424716.

A Regulatory Path Associated with X-Linked Intellectual Disability and Epilepsy Links KDM5C to the Polyalanine Expansions in ARX

Loredana Poeta, Francesca Fusco, Denise Drongitis, Cheryl Shoubridge, Genesia Manganelli, Stefania Filosa, Mariateresa Paciolla, Monica Courtney, Patrick Collombat, Maria Brigida Lioi, Jozef Gecz, Matilde Valeria Ursini, Maria Giuseppina Miano

Am J Hum Genet. 2013 Jan 10; 92(1): 114–125. doi: 10.1016/j.ajhg.2012.11.008

PMCID:: PMC3542471

Abstract Article PDF–1.0M

Select item 49166547.

Inactivation of Arx, the Murine Ortholog of the X-Linked Lissencephaly with Ambiguous Genitalia Gene, Leads to Severe Disorganization of the Ventral Telencephalon with Impaired Neuronal Migration and Differentiation

Elena Colombo, Patrick Collombat, Gaia Colasante, Marta Bianchi, Jason Long, Ahmed Mansouri, John L. R. Rubenstein, Vania Broccoli

J Neurosci. 2007 Apr 25; 27(17): 4786–4798. doi: 10.1523/JNEUROSCI.0417-07.2007

PMCID:: PMC4916654

Abstract Article PDF–955K

Select item 31786258.

High-Throughput Analysis of Promoter Occupancy Reveals New Targets for Arx, a Gene Mutated in Mental Retardation and Interneuronopathies

Marie-Lise Quillé, Solenne Carat, Sylvia Quéméner-Redon, Edouard Hirchaud, Daniel Baron, Caroline Benech, Jeanne Guihot, Morgane Placet, Olivier Mignen, Claude Férec, Rémi Houlgatte, Gaëlle Friocourt

PLoS One. 2011; 6(9): e25181. Published online 2011 Sep 22. doi: 10.1371/journal.pone.0025181

PMCID:: PMC3178625

Abstract Article PDF–1.1M

Select item 33223189.

Arx is required for normal enteroendocrine cell development in mice and humans

Aiping Du, Kyle W. McCracken, Erik Walp, Natalie A. Terry, Thomas J. Klein, Annie Han, James M. Wells, Catherine Lee May

Dev Biol. Author manuscript; available in PMC 2013 May 1.

Published in final edited form as: Dev Biol. 2012 May 1; 365(1): 175–188. Published online 2012 Feb 24. doi: 10.1016/j.ydbio.2012.02.024

PMCID:: PMC3322318

Abstract Article PDF–3.5M

Select item 317805910.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

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