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 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 AlteredExpression disease BEFREE Reconstitution of RSK2 in cells from subjects with a genetic defect in RSK2 expression (Coffin-Lowry syndrome) enhanced Tat transactivation. 17225856 2007
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 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 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 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 GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
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
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 Biomarker disease BEFREE In the near vicinity to the associated region, RPS6KA3 was identified as a candidate gene causing facial dysmorphia in humans and mice known as Coffin-Lowry syndrome. 31691328 2020
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 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 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 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 Biomarker disease CLINGEN Gene deletion studies in mice have shown an essential role for the Rsk2 gene in osteoblast differentiation and function, establishing a causal link between Rsk2 deficiency and skeletal abnormalities of CLS. 17033934 2007
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 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 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 RSK2 is known to be an etiological gene of Coffin-Lowry Syndrome (CLS). 28714417 2017
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 Biomarker disease CLINGEN Loss-of-function mutations in human RSK2 cause Coffin-Lowry syndrome, which is characterized by severe mental retardation and low IQ scores in affected males. 26398944 2015
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 Biomarker disease BEFREE RPS6KA3 is the only gene known to be associated with CLS, and over 150 distinct inactivating mutations in this gene have so far been reported in CLS patients. 23261961 2013
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 Biomarker disease BEFREE Inactivation of the growth factor-regulated S6 kinase RSK2 causes Coffin-Lowry syndrome in humans, an X-linked mental retardation condition associated with progressive skeletal abnormalities. 15719069 2005
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 GENOMICS_ENGLAND Here we present 44 novel mutations in RSK2 causing CLS. 16879200 2006