Skip to search formSkip to main content
You are currently offline. Some features of the site may not work correctly.

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

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2011
Highly Cited
2011
VIDEO ABSTRACT Activation of group I metabotropic glutamate receptors leads to long-term depression (mGluR-LTD). Alterations in… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Highly Cited
2009
Highly Cited
2009
Neurons transmit information at chemical synapses by releasing neurotransmitters that are stored in synaptic vesicles (SVs) at… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
Highly Cited
2009
Highly Cited
2009
Oligophrenin-1 (OPHN1) encodes a Rho-GTPase-activating protein (Rho-GAP) whose loss of function has been associated with X-linked… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
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
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
  • figure 1
  • figure 2
  • figure 3
Highly Cited
2003
Highly Cited
2003
A number of apparently non-syndromic X linked mental retardation syndromes are associated with subtle but characteristic… Expand
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
  • figure 1
  • table 1
  • figure 2
  • figure 3
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
1998
1998
Mental retardation is a common phenotype that is caused by defects in a large number of genes--the updated McKusick catalogue of… Expand