Coffin-Lowry syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
RSK2 is involved in Coffin-Lowry syndrome and nonspecific MRX.
|
10644430 |
1999 |
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 |
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 |
Coffin-Lowry syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
RSK-2 mutations in humans are linked to Coffin-Lowry syndrome (CLS).
|
10436156 |
1999 |
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 |
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 |
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 |
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 |
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 |
Biomarker
|
disease |
CLINGEN |
RSK2 knockout mice may be a good animal model for the study of Coffin-Lowry syndrome.
|
11113183 |
2001 |
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 |
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 |
Biomarker
|
disease |
MGD |
RSK2 knockout mice may be a good animal model for the study of Coffin-Lowry syndrome.
|
11113183 |
2001 |