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OPHN1 gene

Known as: OLIGOPHRENIN 1, ARHGAP41, Oligophrenin 1 Gene 
This gene plays a role in the mediation of GTP hydrolysis of Rho subfamily members.
National Institutes of Health

Papers overview

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2011
2011
VIDEO ABSTRACT Activation of group I metabotropic glutamate receptors leads to long-term depression (mGluR-LTD). Alterations in… Expand
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2009
2009
Neurons transmit information at chemical synapses by releasing neurotransmitters that are stored in synaptic vesicles (SVs) at… Expand
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Highly Cited
2009
Highly Cited
2009
The patho-physiological hypothesis of mental retardation caused by the deficiency of the RhoGAP Oligophrenin1 (OPHN1), relies on… Expand
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2008
2008
BACKGROUND The oligophrenin 1 gene (OPHN1) is an Rho-GTPase-activating protein involved in the regulation of the G-protein cycle… Expand
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Highly Cited
2007
Highly Cited
2007
A tiling X-chromosome-specific genomic array with a theoretical resolution of 80 kb was developed to screen patients with… Expand
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2007
2007
We report on a patient with mental retardation, seizures and tall stature with advanced bone age in whom a de novo apparently… Expand
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Highly Cited
2005
Highly Cited
2005
Background: Mutations of oligophrenin 1, one of the first genes identified in nonspecific X-linked mental retardation (MRX), have… Expand
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Highly Cited
2003
Highly Cited
2003
A number of apparently non-syndromic X linked mental retardation syndromes are associated with subtle but characteristic… Expand
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Review
2003
Review
2003
We identified an oligophrenin 1 (OPHN1) gene mutation in a family with five brothers affected by a recognizable pattern of… Expand
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Highly Cited
2003
Highly Cited
2003
Recent human genetic approaches showed that mutations in three genes encoding OPHN1, PAK3, and alphaPIX cause nonspecific X… Expand
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