|
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Here we present 44 novel mutations in RSK2 causing CLS.
|
16879200 |
2006 |
|
Coffin-Lowry syndrome
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Here we present 44 novel mutations in RSK2 causing CLS.
|
16879200 |
2006 |
|
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 |
Biomarker
|
disease |
BEFREE |
Here we report the first in-frame deletion in C-terminal KD of RPS6KA3 in a CLS patient with drop episodes.
|
25044551 |
2014 |
|
Coffin-Lowry syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
How RSK2-deficiency leads to cognitive dysfunctions in CLS is however poorly understood.
|
29627578 |
2018 |
|
Coffin-Lowry syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In addition, a nonsense mutation in RPS6KA3 was found in one patient initially diagnosed with NS whose diagnosis was later revised to Coffin-Lowry syndrome.
|
25049390 |
2014 |
|
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 |
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 |
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 |
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 |
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 |
|
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 |
Biomarker
|
disease |
MGD |
Insulin resistance and lipodystrophy in mice lacking ribosomal S6 kinase 2.
|
12765942 |
2003 |
|
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 |
UNIPROT |
Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome.
|
14986828 |
2003 |
|
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 |
|
Coffin-Lowry syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function mutations in the Ribosomal Protein S6 Kinase Polypeptide 3 (RPS6KA3) gene have been shown to be responsible for CLS.
|
26297997 |
2016 |
|
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 |
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 |
LHGDN |
Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.
|
17100996 |
2006 |
|
Coffin-Lowry syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.
|
17100996 |
2006 |
|
Coffin-Lowry syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the Rsk2 gene cause Coffin-Lowry syndrome, a rare syndromic form of intellectual disability.
|
28585192 |
2017 |