Literature DB >> 10319851

A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation.

K Merienne, S Jacquot, S Pannetier, M Zeniou, A Bankier, J Gecz, J L Mandel, J Mulley, P Sassone-Corsi, A Hanauer.   

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Year:  1999        PMID： 10319851     DOI： 10.1038/8719

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


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  29 in total

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2.  X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28.

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3.  A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25.

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4.  Mapping of a new locus for autosomal recessive non-syndromic mental retardation in the chromosomal region 19p13.12-p13.2: further genetic heterogeneity.

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Review 5.  X linked mental retardation: a clinical guide.

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6.  Genomewide association study for C-reactive protein in Indians replicates known associations of common variants.

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7.  Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.

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8.  Activation of p90 Rsk1 is sufficient for differentiation of PC12 cells.

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10.  A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate.

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