RPS6KA3, ribosomal protein S6 kinase A3, 6197

N. diseases: 315; N. variants: 37
Disease: Coffin-Lowry syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 Biomarker disease CLINGEN We have tested five unrelated individuals with CLS for mutations in nine exons of Rsk-2 using Single Strand Conformation Polymorphism (SSCP) analysis. 10094187 1999
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease BEFREE We have tested five unrelated individuals with CLS for mutations in nine exons of Rsk-2 using Single Strand Conformation Polymorphism (SSCP) analysis. 10094187 1999
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease UNIPROT We have tested five unrelated individuals with CLS for mutations in nine exons of Rsk-2 using Single Strand Conformation Polymorphism (SSCP) analysis. 10094187 1999
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease BEFREE We have identified a Coffin-Lowry syndrome pedigree where the disorder is associated with a novel splice site mutation in the RSK2 gene, leading to in-phase skipping of exon 5. 9887375 1999
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 Biomarker disease MGD We examined, using X-Ray microtomographic analysis, the variable craniofacial dysmorphism and dental anomalies present in Rsk2 knockout mice, a model of Coffin-Lowry syndrome, as well as in triple Rsk1,2,3 knockout mutants. 24416220 2014
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease UNIPROT Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome. 10528858 1999
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease BEFREE Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome. 10528858 1999
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 Biomarker disease BEFREE Transcriptome profile reveals AMPA receptor dysfunction in the hippocampus of the Rsk2-knockout mice, an animal model of Coffin-Lowry syndrome. 21116650 2011
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease LHGDN To determine what proportion of these latter patients have a RSK2 mutation that has not been detected and what proportion have different disorders that are phenotypically similar to CLS, we have, in the present article, investigated, by western blot analysis and in vitro kinase assay, cell lines from 26 patients in whom no mutation was previously identified by SSCP analysis. 11992250 2002
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease BEFREE To determine what proportion of these latter patients have a RSK2 mutation that has not been detected and what proportion have different disorders that are phenotypically similar to CLS, we have, in the present article, investigated, by western blot analysis and in vitro kinase assay, cell lines from 26 patients in whom no mutation was previously identified by SSCP analysis. 11992250 2002
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 Biomarker disease CLINGEN Thus, Rsk2 loss-of-function, as seen in CLS, perturbs the differentiation of neural precursors into neurons, and maintains them instead as proliferating radial precursor cells, a defect that may underlie the cognitive dysfunction seen in CLS. 20832397 2010
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 Biomarker disease BEFREE Thus, Rsk2 loss-of-function, as seen in CLS, perturbs the differentiation of neural precursors into neurons, and maintains them instead as proliferating radial precursor cells, a defect that may underlie the cognitive dysfunction seen in CLS. 20832397 2010
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 Biomarker disease BEFREE Three candidate genes in this region were investigated: the cDNA for kinase Rsk-2 involved in Coffin-Lowry syndrome, the brain-specific exon of a transcript in the DMD locus (DP140 isoform of dystrophin), and exon 18 of the glycerol kinase gene, which is specific to fetal brain transcripts.All three sequences were normal. 10190484 1999
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease BEFREE This partial duplication inhibits the RPS6KA3 expression, mimicking the effect of loss-of-function mutations associated with Coffin-Lowry syndrome (CLS). 26354035 2015
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 Biomarker disease BEFREE This microduplication is only the third intragenic duplication of RPS6KA3, and the second and smallest reported to date thought to cause CLS. 31512387 2019
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease BEFREE These findings were suggestive of Coffin-Lowry syndrome (CLS), and this was confirmed by the identification of a novel mutation in RPS6KA3, a heterozygous one basepair duplication at nucleotide 1570 (c.1570dupA). 24311527 2014
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 Biomarker disease MGD These findings show that RSK2 loss-of-function is associated in the dentate gyrus with multi-level alterations that encompass modifications of glutamate receptor channel properties, synaptic transmission, plasticity-associated gene expression and spine morphology, providing novel insights into the mechanisms contributing to cognitive impairments in CLS. 23742761 2013
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 Biomarker disease MGD These findings identify ATF4 as a critical regulator of osteoblast differentiation and function, and indicate that lack of ATF4 phosphorylation by RSK2 may contribute to the skeletal phenotype of CLS. 15109498 2004
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease BEFREE The ribosomal protein S6 kinase, 90 kb, polypeptide 3 gene (RPS6KA3) is responsible for Coffin-Lowry syndrome (CLS), which is characterized by intellectual disability (ID) and facial and bony abnormalities. 23985797 2013
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease BEFREE The map intervals of 5 X-linked mental retardation loci, MRX2 (Xp22.1-p22.2), MRX19 (Xp22), MRX21 (Xp21.1-p22.3), MRX29 (Xp21.2-p22.1), and MRX32 (Xp21.2-p22.1), and two syndromal mental retardation loci, Partington syndrome (PRTS; Xp22) and Coffin-Lowry syndrome (CLS; Xp22.13-p22.2), overlap this region. 8826457 1996
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease BEFREE The first large duplication of the RSK2 gene identified in a Coffin-Lowry syndrome patient. 17717706 2007
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 Biomarker disease CLINGEN The 90 kDa ribosomal S6 serine/threonine kinase 2 gene (RSK2, U08316) has been recently identified as a disease-causing gene in an X-linked disorder, the Coffin-Lowry Syndrome (MIM 303600) characterized by severe mental retardation, facial dysmorphisms and progressive skeletal malformations. 14678837 2004
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 AlteredExpression disease LHGDN The 90 kDa ribosomal S6 serine/threonine kinase 2 gene (RSK2, U08316) has been recently identified as a disease-causing gene in an X-linked disorder, the Coffin-Lowry Syndrome (MIM 303600) characterized by severe mental retardation, facial dysmorphisms and progressive skeletal malformations. 14678837 2004
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease BEFREE Since Coffin-Lowry syndrome and neonatal lactic acidosis are associated with mutations in the human homologues of Rsk2 and Pdha1 respectively, lined and stripey provide models for gene deficiencies in these disorders. 9467016 1998
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 Biomarker disease CTD_human SHAFTS: a hybrid approach for 3D molecular similarity calculation. 2. Prospective case study in the discovery of diverse p90 ribosomal S6 protein kinase 2 inhibitors to suppress cell migration. 21488662 2011