|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Downgrading of arts-centered education in state schools.
|
1760348 |
1992 |
|
Noonan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutations in conserved regions 1, 2, and 3 of Raf-1 that activate transforming activity.
|
11933072 |
2002 |
|
Noonan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
14-3-3 antagonizes Ras-mediated Raf-1 recruitment to the plasma membrane to maintain signaling fidelity.
|
12077328 |
2002 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Protein kinase and protein phosphatase expression in the central nervous system of G93A mSOD over-expressing mice.
|
12675918 |
2003 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Of 19 subjects with a RAF1 mutation in two hotspots, 18 (or 95%) showed hypertrophic cardiomyopathy (HCM), compared with the 18% prevalence of HCM among individuals with Noonan syndrome in general.
|
17603483 |
2007 |
|
Noonan Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Cells transfected with constructs containing Noonan syndrome-associated RAF1 mutations showed increased in vitro kinase and ERK activation, and zebrafish embryos with morpholino knockdown of raf1 demonstrated the need for raf1 for the development of normal myocardial structure and function.
|
17603482 |
2007 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Of 19 subjects with a RAF1 mutation in two hotspots, 18 (or 95%) showed hypertrophic cardiomyopathy (HCM), compared with the 18% prevalence of HCM among individuals with Noonan syndrome in general.
|
17603483 |
2007 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Mast cell lineage diversion of T lineage precursors by the essential T cell transcription factor GATA-3.
|
17603486 |
2007 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Of 19 subjects with a RAF1 mutation in two hotspots, 18 (or 95%) showed hypertrophic cardiomyopathy (HCM), compared with the 18% prevalence of HCM among individuals with Noonan syndrome in general.
|
17603483 |
2007 |
|
Noonan Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Of 19 subjects with a RAF1 mutation in two hotspots, 18 (or 95%) showed hypertrophic cardiomyopathy (HCM), compared with the 18% prevalence of HCM among individuals with Noonan syndrome in general.
|
17603483 |
2007 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Common variants in WFS1 confer risk of type 2 diabetes.
|
17603484 |
2007 |
|
Noonan Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Cells transfected with constructs containing Noonan syndrome-associated RAF1 mutations showed increased in vitro kinase and ERK activation, and zebrafish embryos with morpholino knockdown of raf1 demonstrated the need for raf1 for the development of normal myocardial structure and function.
|
17603482 |
2007 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Redox regulation of peptide receptivity of major histocompatibility complex class I molecules by ERp57 and tapasin.
|
17603488 |
2007 |
|
Noonan Syndrome
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
Of 19 subjects with a RAF1 mutation in two hotspots, 18 (or 95%) showed hypertrophic cardiomyopathy (HCM), compared with the 18% prevalence of HCM among individuals with Noonan syndrome in general.
|
17603483 |
2007 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Selective loading of high-affinity peptides onto major histocompatibility complex class I molecules by the tapasin-ERp57 heterodimer.
|
17603487 |
2007 |
|
Noonan Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Of 19 subjects with a RAF1 mutation in two hotspots, 18 (or 95%) showed hypertrophic cardiomyopathy (HCM), compared with the 18% prevalence of HCM among individuals with Noonan syndrome in general.
|
17603483 |
2007 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
A GaN bulk crystal with improved structural quality grown by the ammonothermal method.
|
17603489 |
2007 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We have identified five different mutations in RAF1 in ten individuals with Noonan syndrome; those with any of four mutations causing changes in the CR2 domain of RAF1 had hypertrophic cardiomyopathy (HCM), whereas affected individuals with mutations leading to changes in the CR3 domain did not.
|
17603482 |
2007 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Cells transfected with constructs containing Noonan syndrome-associated RAF1 mutations showed increased in vitro kinase and ERK activation, and zebrafish embryos with morpholino knockdown of raf1 demonstrated the need for raf1 for the development of normal myocardial structure and function.
|
17603482 |
2007 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Cells transfected with constructs containing Noonan syndrome-associated RAF1 mutations showed increased in vitro kinase and ERK activation, and zebrafish embryos with morpholino knockdown of raf1 demonstrated the need for raf1 for the development of normal myocardial structure and function.
|
17603482 |
2007 |
|
Noonan Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Of 19 subjects with a RAF1 mutation in two hotspots, 18 (or 95%) showed hypertrophic cardiomyopathy (HCM), compared with the 18% prevalence of HCM among individuals with Noonan syndrome in general.
|
17603483 |
2007 |
|
Noonan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Of 19 subjects with a RAF1 mutation in two hotspots, 18 (or 95%) showed hypertrophic cardiomyopathy (HCM), compared with the 18% prevalence of HCM among individuals with Noonan syndrome in general.
|
17603483 |
2007 |
|
Noonan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Cells transfected with constructs containing Noonan syndrome-associated RAF1 mutations showed increased in vitro kinase and ERK activation, and zebrafish embryos with morpholino knockdown of raf1 demonstrated the need for raf1 for the development of normal myocardial structure and function.
|
17603482 |
2007 |
|
Noonan Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Cells transfected with constructs containing Noonan syndrome-associated RAF1 mutations showed increased in vitro kinase and ERK activation, and zebrafish embryos with morpholino knockdown of raf1 demonstrated the need for raf1 for the development of normal myocardial structure and function.
|
17603482 |
2007 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes.
|
17603485 |
2007 |