Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

ACTIVATION of NMDA (N-methyl-D-aspartate) receptors has recently been proposed as a prerequisite for the induction of experience-dependent modification of visual cortical neurones seen during early postnatal development. A new monoclonal antibody to the NMDA receptor subunit 1 (NMDA-R1) has been used to localize and compare the distribution of the receptors in the primary visual cortex of normal cats and those raised with either amblyopia induced by monocular optical blur or monocular esotropic strabismus. Although all three groups showed densest labelling in layers II-III, a comparison of immunopositive cells at any depth below the cortical surface showed a significantly lower frequency in strabismic and anisometropic cats than in normal cats, but a greater frequency in anisometropic cats that in strabismic animals. There appears to be no direct relationship between the expression of NMDA-R1 receptors and the level of excitability, binocularity or neuronal acuity known to exist in either of these two cat models of amblyopia, thus raising further questions as to the precise nature of the role of NMDA receptors in the processes of visual cortical plasticity.
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PMID:Distribution and localization of NMDA receptor subunit 1 in the visual cortex of strabismic and anisometropic amblyopic cats. 911 27

Marfanoid habitus (MH) combined with intellectual disability (ID) is a genetically and clinically heterogeneous group of overlapping disorders. We performed exome sequencing in 33 trios and 31 single probands to identify novel genes specific to MH-ID. After the search for variants in known disease-causing genes and non-disease-causing genes with classical approaches, we searched for variants in non-disease-causing genes whose pLI was above 0.9 (ExAC Consortium data), in which truncating variants were found in at least 3 unrelated patients. Only DLG4 gene met these criteria. Data from the literature and various databases also indicated its implication in ID. DLG4 encodes post-synaptic density protein 95 (PSD-95), a protein expressed in various tissues, including the brain. In neurons, PSD-95 is located at the post-synaptic density, and is associated with glutamatergic receptor signaling (NMDA and AMPA). PSD-95 probably participates in dendritogenesis. Two patients were heterozygous for de novo frameshift variants and one patient carried a a consensus splice site variant. Gene expression studies supported their pathogenicity through haploinsufficiency and loss-of-function. Patients exhibited mild-to-moderate ID, similar marfanoid features, including a long face, high-arched palate, long and thin fingers, pectus excavatum, scoliosis and ophthalmological manifestations (nystagmus or strabismus). Our study emphasizes the role of DLG4 as a novel post-synaptic-associated gene involved in syndromic ID associated with MH.
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PMID:Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features. 2946 Apr 36