A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation
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A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardationC-terminal elements control location, activation threshold, and p38 docking of ribosomal S6 kinase B (RSKB)A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptorMutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin familyThe novel Rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe mental retardationX-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palateDisruption of a new X linked gene highly expressed in brain in a family with two mentally retarded malesMapping of a new locus for autosomal recessive non-syndromic mental retardation in the chromosomal region 19p13.12-p13.2: further genetic heterogeneityA third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patientsThe role of neuronal complexes in human X-linked brain diseasesX-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, protein product known under various names: pp90(rsk2), RSK2, ISPK, MAPKAP1)Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disordersMutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremorControl sites of ribosomal S6 kinase B and persistent activation through tumor necrosis factor.Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardationA new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25.MRX review.Coffin-Lowry syndrome: clinical and molecular features.The genetic basis of non-syndromic intellectual disability: a reviewSplitting and lumping in the nosology of XLMR.In search of the MRX genes.Coffin-Lowry syndrome.Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.Genetic effects on human cognition: lessons from the study of mental retardation syndromesMutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.Molecular and comparative genetics of mental retardation.FG syndrome: linkage analysis in two families supporting a new gene localization at Xp22.3 [FGS3].X linked mental retardation: a clinical guide.Genetic and environmental factors in complex neurodevelopmental disorders.Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome.Forty years from markers to genes.Activation of p90 Rsk1 is sufficient for differentiation of PC12 cells.Epigenetic regulation of gene expression in physiological and pathological brain processes.Genetic basis of cognitive disability.625 kb microduplication at Xp22.12 including RPS6KA3 in a child with mild intellectual disability.Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations.RSK2 mutation co-segregates with X-linked intellectual disability and attenuated Coffin-Lowry phenotype in a three-generation family.An Xp22.12 microduplication including RPS6KA3 identified in a family with variably affected intellectual and behavioral disabilities.
P2860
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P2860
A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation
description
1999 nî lūn-bûn
@nan
1999 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation
@ast
A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation
@en
A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation
@en-gb
A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation
@nl
type
label
A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation
@ast
A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation
@en
A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation
@en-gb
A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation
@nl
prefLabel
A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation
@ast
A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation
@en
A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation
@en-gb
A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation
@nl
P2093
P356
P1433
P1476
A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation
@en
P2093
K Merienne
P Sassone-Corsi
S Pannetier
P2888
P356
10.1038/8719
P407
P577
1999-05-01T00:00:00Z
P6179
1028663455