Full text in PMC (nucleotide) for Gene (Select 312108) - PMC

Select item 49228541.

Rho Kinase Inhibition Is Essential During In Vitro Neurogenesis and Promotes Phenotypic Rescue of Human Induced Pluripotent Stem Cell-Derived Neurons With Oligophrenin-1 Loss of Function

Claudia Compagnucci, Sabina Barresi, Stefania Petrini, Pierre Billuart, Giorgia Piccini, Pietro Chiurazzi, Paolo Alfieri, Enrico Bertini, Ginevra Zanni

Stem Cells Transl Med. 2016 Jul; 5(7): 860–869. Published online 2016 May 9. doi: 10.5966/sctm.2015-0303

PMCID:: PMC4922854

Abstract Article PDF–2.2M

Select item 40693492.

The X-linked Mental Retardation Protein OPHN1 Interacts with Homer1b/c to Control Spine Endocytic Zone Positioning and Expression of Synaptic Potentiation

Akiko Nakano-Kobayashi, Yilin Tai, Nael Nadif Kasri, Linda Van Aelst

J Neurosci. 2014 Jun 25; 34(26): 8665–8671. doi: 10.1523/JNEUROSCI.0894-14.2014

PMCID:: PMC4069349

Abstract Article PDF–1.9M

Select item 39925763.

A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations

Cíntia Barros Santos-Rebouças, Stefanie Belet, Luciana Guedes de Almeida, Márcia Gonçalves Ribeiro, Enrique Medina-Acosta, Paulo Roberto Valle Bahia, Antônio Francisco Alves da Silva, Flávia Lima dos Santos, Glenda Corrêa Borges de Lacerda, Márcia Mattos Gonçalves Pimentel, Guy Froyen

Eur J Hum Genet. 2014 May; 22(5): 644–651. Published online 2013 Oct 9. doi: 10.1038/ejhg.2013.216

PMCID:: PMC3992576

Abstract Article PDF–1.6M

Select item 35140354.

Epithelial junction formation requires confinement of Cdc42 activity by a novel SH3BP1 complex

Ahmed Elbediwy, Ceniz Zihni, Stephen J. Terry, Peter Clark, Karl Matter, Maria S. Balda

J Cell Biol. 2012 Aug 20; 198(4): 677–693. doi: 10.1083/jcb.201202094

PMCID:: PMC3514035

Abstract Article PDF–6.5M

Select item 17355025.

Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia

N Philip, B Chabrol, A Lossi, C Cardoso, R Guerrini, W Dobyns, C Raybaud, L Villard

J Med Genet. 2003 Jun; 40(6): 441–446. doi: 10.1136/jmg.40.6.441

PMCID:: PMC1735502

Summary PDF–429K

Select item 5402776.

Gene and alternative splicing annotation with AIR

Liliana Florea, Valentina Di Francesco, Jason Miller, Russell Turner, Alison Yao, Michael Harris, Brian Walenz, Clark Mobarry, Gennady V. Merkulov, Rosane Charlab, Ian Dew, Zuoming Deng, Sorin Istrail, Peter Li, Granger Sutton

Genome Res. 2005 Jan; 15(1): 54–66. doi: 10.1101/gr.2889405

PMCID:: PMC540277

Abstract Article PDF–256K

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