Noonan-Like Syndrome With Loose Anagen Hair
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM 607721) due to a missense mutation c.4A>G in SHOC2 predicting p.Ser2Gly has been described recently.
|
24458596 |
2014 |
Noonan-Like Syndrome With Loose Anagen Hair
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Noonan-like syndrome with loose anagen hair (NS/LAH or Mazzanti Syndrome) is caused by a single missense mutation in SHOC2 promoting tN-myristoylation of the encoded protein.
|
24124081 |
2013 |
Noonan-Like Syndrome With Loose Anagen Hair
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Twenty-five subjects with a relatively consistent phenotype previously termed Noonan-like syndrome with loose anagen hair (MIM607721) shared the 4A>G missense change in SHOC2 (producing an S2G amino acid substitution) that introduces an N-myristoylation site, resulting in aberrant targeting of SHOC2 to the plasma membrane and impaired translocation to the nucleus upon growth factor stimulation.
|
19684605 |
2009 |
Noonan-Like Syndrome With Loose Anagen Hair
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here, we report on the occurrence of severe hydrops in a newborn heterozygous for the invariant c.4A>G missense change in SHOC2 which underlies Noonan-like syndrome with loose anagen hair, documenting that it represents a clinically relevant complication in this condition, shared by RASopathies.
|
24458587 |
2014 |
Noonan-Like Syndrome With Loose Anagen Hair
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Gene expression profiling was also resolved in five subjects with Noonan-like syndrome with loose anagen hair (NS/LAH), a condition clinically related to NS and caused by an invariant mutation in SHOC2.
|
22253195 |
2012 |
Noonan-Like Syndrome With Loose Anagen Hair
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM 607721) is caused by a heterozygous c.4A>G mutation in SHOC2.
|
26096762 |
2015 |
Noonan-Like Syndrome With Loose Anagen Hair
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM #607721) has been recently related to the invariant c.4A > G missense change in SHOC2.
|
22995099 |
2012 |
Noonan-Like Syndrome With Loose Anagen Hair
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The only previously identified missense mutation in SHOC2, a scaffold protein of the ERK1/2 pathway, led to Noonan-like syndrome with loose anagen hair.
|
25137548 |
2014 |
Noonan-Like Syndrome With Loose Anagen Hair
|
0.700 |
Biomarker
|
disease |
BEFREE |
Erbin blocks ERK signaling by interacting with and disrupting Ras-Raf scaffolds mediated by SHOC2, a protein genetically linked to the RASopathy, Noonan-like syndrome with loose anagen hair (NS/LAH).
|
23524970 |
2013 |
Noonan-Like Syndrome With Loose Anagen Hair
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in Shoc2 are associated with the human developmental disease known as the Noonan-like syndrome with loose anagen hair.
|
30329053 |
2019 |
Noonan-Like Syndrome With Loose Anagen Hair
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM 607721), recently related to the invariant c.4A>G missense change in SHOC2, is characterized by features reminiscent of Noonan syndrome.
|
22419608 |
2012 |
Noonan-Like Syndrome With Loose Anagen Hair
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Twenty-five subjects with a relatively consistent phenotype previously termed Noonan-like syndrome with loose anagen hair (MIM607721) shared the 4A>G missense change in SHOC2 (producing an S2G amino acid substitution) that introduces an N-myristoylation site, resulting in aberrant targeting of SHOC2 to the plasma membrane and impaired translocation to the nucleus upon growth factor stimulation.
|
19684605 |
2009 |
Noonan-Like Syndrome With Loose Anagen Hair
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Twenty-five subjects with a relatively consistent phenotype previously termed Noonan-like syndrome with loose anagen hair (MIM607721) shared the 4A>G missense change in SHOC2 (producing an S2G amino acid substitution) that introduces an N-myristoylation site, resulting in aberrant targeting of SHOC2 to the plasma membrane and impaired translocation to the nucleus upon growth factor stimulation.
|
19684605 |
2009 |
Noonan-Like Syndrome With Loose Anagen Hair
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis.
|
23918763 |
2013 |
Noonan-Like Syndrome With Loose Anagen Hair
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The RASopathies.
|
23875798 |
2013 |
Noonan-Like Syndrome With Loose Anagen Hair
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Shoc2 is targeted to late endosomes and required for Erk1/2 activation in EGF-stimulated cells.
|
22606262 |
2012 |
Noonan-Like Syndrome With Loose Anagen Hair
|
0.700 |
Biomarker
|
disease |
CLINGEN |
The RASopathies.
|
23875798 |
2013 |
Noonan-Like Syndrome With Loose Anagen Hair
|
0.700 |
Biomarker
|
disease |
CLINGEN |
SHOC2 subcellular shuttling requires the KEKE motif-rich region and N-terminal leucine-rich repeat domain and impacts on ERK signalling.
|
27466182 |
2016 |
Noonan-Like Syndrome With Loose Anagen Hair
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies.
|
20882035 |
2010 |
Noonan-Like Syndrome With Loose Anagen Hair
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype.
|
21548061 |
2011 |
Noonan-Like Syndrome With Loose Anagen Hair
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Twenty-five subjects with a relatively consistent phenotype previously termed Noonan-like syndrome with loose anagen hair (MIM607721) shared the 4A>G missense change in SHOC2 (producing an S2G amino acid substitution) that introduces an N-myristoylation site, resulting in aberrant targeting of SHOC2 to the plasma membrane and impaired translocation to the nucleus upon growth factor stimulation.
|
19684605 |
2009 |