Coffin-Lowry syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
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 |
GeneticVariation
|
disease |
LHGDN |
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 |
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 |
RSK2 is involved in Coffin-Lowry syndrome and nonspecific MRX.
|
10644430 |
1999 |
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 |
MGD |
RSK2 knockout mice may be a good animal model for the study of Coffin-Lowry syndrome.
|
11113183 |
2001 |
Coffin-Lowry syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
RSK2 mutations in CLS patients are extremely heterogeneous.
|
12393804 |
2002 |
Coffin-Lowry syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
RSK2 gene mutations in Coffin-Lowry syndrome with drop episodes.
|
15668050 |
2005 |
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 |
Biomarker
|
disease |
BEFREE |
Rsk2, the Kinase Mutated in Coffin-Lowry Syndrome, Controls Cementum Formation.
|
26927527 |
2016 |
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 |
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 |
GeneticVariation
|
disease |
LHGDN |
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A practical approach to diagnosing adult onset leukodystrophies.
|
24357685 |
2014 |
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 |
GeneticVariation
|
disease |
BEFREE |
Because RSK2-inactivating mutations in humans lead to Coffin-Lowry syndrome, our results imply that alterations in GPCR signaling may account for some of its clinical manifestations.
|
16537434 |
2006 |
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 |
UNIPROT |
Cardiomyopathy in Coffin-Lowry syndrome.
|
15214012 |
2004 |
Coffin-Lowry syndrome
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Cerebellum and hippocampus volumes were particularly impacted by CLS and may be associated with specific interfamilial RSK2 mutations.
|
17318637 |
2007 |
Coffin-Lowry syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cerebellum and hippocampus volumes were particularly impacted by CLS and may be associated with specific interfamilial RSK2 mutations.
|
17318637 |
2007 |
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 |
Four novel RSK2 mutations in females with Coffin-Lowry syndrome.
|
20637903 |
2011 |
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 |
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 |