|
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 |
Biomarker
|
disease |
BEFREE |
This microduplication is only the third intragenic duplication of RPS6KA3, and the second and smallest reported to date thought to cause CLS.
|
31512387 |
2019 |
|
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 |
Mutation of RPS6KA3 can induce Coffin-Lowry syndrome, an X-linked syndrome.
|
30740391 |
2018 |
|
Coffin-Lowry syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Animal Models for Coffin-Lowry Syndrome: RSK2 and Nervous System Dysfunction.
|
29875643 |
2018 |
|
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 |
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 |
Mutations in the Rsk2 gene cause Coffin-Lowry syndrome, a rare syndromic form of intellectual disability.
|
28585192 |
2017 |
|
Coffin-Lowry syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Rsk2, the Kinase Mutated in Coffin-Lowry Syndrome, Controls Cementum Formation.
|
26927527 |
2016 |
|
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 |
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 |
This partial duplication inhibits the RPS6KA3 expression, mimicking the effect of loss-of-function mutations associated with Coffin-Lowry syndrome (CLS).
|
26354035 |
2015 |
|
Coffin-Lowry syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A practical approach to diagnosing adult onset leukodystrophies.
|
24357685 |
2014 |
|
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 |
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 |
MGD |
We examined, using X-Ray microtomographic analysis, the variable craniofacial dysmorphism and dental anomalies present in Rsk2 knockout mice, a model of Coffin-Lowry syndrome, as well as in triple Rsk1,2,3 knockout mutants.
|
24416220 |
2014 |
|
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 |
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 |
|
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 |
|
Coffin-Lowry syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The ribosomal protein S6 kinase, 90 kb, polypeptide 3 gene (RPS6KA3) is responsible for Coffin-Lowry syndrome (CLS), which is characterized by intellectual disability (ID) and facial and bony abnormalities.
|
23985797 |
2013 |
|
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 |
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 |
|
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 |
Four novel RSK2 mutations in females with Coffin-Lowry syndrome.
|
20637903 |
2011 |
|
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 |