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 GeneticVariation disease CLINVAR
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 Initial screening for mutations in the gene for Rsk-2 in 76 unrelated CLS patients revealed one intragenic deletion, a nonsense, two splice site, and two missense mutations. 8955270 1996
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease UNIPROT Initial screening for mutations in the gene for Rsk-2 in 76 unrelated CLS patients revealed one intragenic deletion, a nonsense, two splice site, and two missense mutations. 8955270 1996
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 Biomarker disease CTD_human Initial screening for mutations in the gene for Rsk-2 in 76 unrelated CLS patients revealed one intragenic deletion, a nonsense, two splice site, and two missense mutations. 8955270 1996
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 GeneticVariation disease UNIPROT No obvious correlation was observed between the position or type of the RSK2 mutations and the severity or particular clinical features of CLS. 9837815 1998
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease BEFREE No obvious correlation was observed between the position or type of the RSK2 mutations and the severity or particular clinical features of CLS. 9837815 1998
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 CausalMutation disease CLINVAR No obvious correlation was observed between the position or type of the RSK2 mutations and the severity or particular clinical features of CLS. 9837815 1998
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 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 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 RSK-2 mutations in humans are linked to Coffin-Lowry syndrome (CLS). 10436156 1999
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 RSK2 is involved in Coffin-Lowry syndrome and nonspecific MRX. 10644430 1999
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 Biomarker disease BEFREE Furthermore, he has characteristic radiographic hand findings described in 95% of patients with CLS.The CLS gene, located at Xp22. 11078556 2000
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 Biomarker disease CLINGEN RSK2 knockout mice may be a good animal model for the study of Coffin-Lowry syndrome. 11113183 2001
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 Biomarker disease MGD RSK2 knockout mice may be a good animal model for the study of Coffin-Lowry syndrome. 11113183 2001
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease BEFREE Mutations in the RSK2 gene (RPS6KA3) on chromosome Xp22.2, have been found to cause Coffin-Lowry syndrome (CLS), an X-linked disorder characterized by psychomotor retardation, characteristic facial and digital abnormalities, and progressive skeletal deformations. 11180593 2001
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 Biomarker disease CLINGEN By screening of 250 patients with clinical features suggestive of Coffin-Lowry syndrome, 71 distinct disease-associated RSK2 mutations have been identified in 86 unrelated families. 11180593 2001
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 Biomarker disease BEFREE In the present study, using cells from a patient with Coffin-Lowry syndrome (deficient in RSK2), we demonstrate that RSK2 slightly represses activation of HSF1 in vivo at 37 degrees C. In Coffin-Lowry syndrome cells, HSF1-HSE DNA binding activity after treatment with sodium salicylate was slightly higher than that in untreated cells, indicating that although RSK2 is involved in HSF1 regulation, it is not the unique protein kinase that suppresses HSF1-HSE binding activity at 37 degrees C. However, heat shock treatment resulted in significantly higher HSF1-HSE binding activity in Coffin-Lowry syndrome cells as compared with normal controls, suggesting that RSK2 represses HSF1-HSE binding activity during heat shock. 11189448 2000
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease BEFREE In the present report, a male patient affected with Coffin-Lowry syndrome is shown to have a nonsense mutation of the RSK2 gene. 11746134 2001