|
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 |
|
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 |
|
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 |
|
Coffin-Lowry syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here we report on a 2-year-old boy with Coffin-Lowry syndrome with a novel missense mutation in the RPS6KA3 gene.
|
29678278 |
2018 |
|
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 |
|
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 |
|
Coffin-Lowry syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
CLS is caused by mutations in a gene located in Xp22.2 and encoding RSK2, a growth-factor regulated protein kinase.
|
11896450 |
2002 |
|
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 |
|
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 |
|
Coffin-Lowry syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here we present 44 novel mutations in RSK2 causing CLS.
|
16879200 |
2006 |
|
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 |
|
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 |
|
Coffin-Lowry syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Delineation of the mechanisms of aberrant splicing caused by two unusual intronic mutations in the RSK2 gene involved in Coffin-Lowry syndrome.
|
14973203 |
2004 |
|
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 |
|
Coffin-Lowry syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome.
|
14986828 |
2003 |
|
Coffin-Lowry syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel RSK2 (RPS6KA3) gene mutation associated with abnormal brain MRI findings in a family with Coffin-Lowry syndrome.
|
16691578 |
2006 |
|
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 |
|
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 |
|
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 |
|
Coffin-Lowry syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutation of RPS6KA3 can induce Coffin-Lowry syndrome, an X-linked syndrome.
|
30740391 |
2018 |
|
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 |
|
Coffin-Lowry syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this study, we evaluated the utility of CHIPS technology for genetic diagnosis in clinical practice by applying this system to screening for the COL2A1, WRN and RPS6KA3 mutations in newly diagnosed patients with Stickler syndrome (autosomal dominant inheritance), Werner syndrome (autosomal recessive inheritance) and Coffin-Lowry syndrome (X-linked inheritance), respectively.
|
23022073 |
2012 |
|
Coffin-Lowry syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
RSK2 is involved in Coffin-Lowry syndrome and nonspecific MRX.
|
10644430 |
1999 |
|
Coffin-Lowry syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
RSK2 is known to be an etiological gene of Coffin-Lowry Syndrome (CLS).
|
28714417 |
2017 |
|
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 |