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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
MeSH Review

Mental Retardation

 
 
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Disease relevance of Mental Retardation

 

Psychiatry related information on Mental Retardation

 

High impact information on Mental Retardation

 

Chemical compound and disease context of Mental Retardation

 

Biological context of Mental Retardation

 

Anatomical context of Mental Retardation

 

Gene context of Mental Retardation

  • We investigated an unusual family with epilepsy and mental retardation limited to females (EFMR, #121250 in ref. 9); this disorder is transmitted both by females and by completely unaffected carrier males [30].
  • Mutation screening of 119 patients with nonspecific mental retardation revealed a mutation in the first intron of ARHGEF6 (IVS1-11T-->C) in all affected males in a large Dutch family [31].
  • Mutations in GDI1 are responsible for X-linked non-specific mental retardation [32].
  • Rho GTPase pathways control actin reorganization, while the fragile X mental retardation protein (FMRP) regulates the synthesis of specific proteins [33].
  • Expansion of a (CGG)n trinucleotide repeat unit at FRAXE, a newly defined fragile site distal to FRAXA, at Xq28, is reported to be associated with mild mental retardation [34].
  • The genes GRIK4 and NPAS3, each associated with psychosis in patients with mental retardation are discussed to illustrate the value of rare cytogenetic events as a means to signpost neurobiological pathways of general importance for illness in the wider population [35].
 

Analytical, diagnostic and therapeutic context of Mental Retardation

References

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