Metachondromatosis
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A mutation in PTPN11 may drive leukemic transformation in a case of essential thrombocythemia.
|
28587547 |
2018 |
Metachondromatosis
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencing.
|
28957739 |
2018 |
Metachondromatosis
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.
|
28650561 |
2017 |
Metachondromatosis
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11.
|
28483241 |
2017 |
Metachondromatosis
|
0.750 |
Biomarker
|
disease |
BEFREE |
SHP2 loss-of-function mutations in chondroid cells are linked to metachondromatosis in humans and mice, suggesting a crucial role for SHP2 in the skeleton.
|
28983104 |
2017 |
Metachondromatosis
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients.
|
27521173 |
2016 |
Metachondromatosis
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
[Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway].
|
25912702 |
2015 |
Metachondromatosis
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.
|
26785492 |
2015 |
Metachondromatosis
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
Over the two past decades, mutations of the PTPN11 gene, encoding the ubiquitous protein tyrosine phosphatase SHP2 (SH2 domain-containing tyrosine phosphatase 2), have been identified as the causal factor of several developmental diseases (Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NS-ML), and metachondromatosis), and malignancies (juvenile myelomonocytic leukemia).
|
26341048 |
2015 |
Metachondromatosis
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11).
|
24628801 |
2014 |
Metachondromatosis
|
0.750 |
Biomarker
|
disease |
BEFREE |
Loss of PTPN11/SHP2 in mice or in human metachondromatosis (MC) patients causes benign cartilage tumors on the bone surface (exostoses) and within bones (enchondromas).
|
24875294 |
2014 |
Metachondromatosis
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
|
24803665 |
2014 |
Metachondromatosis
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
In addition, combined somatic and germline PTPN11 mutations have been shown to be responsible for a rare benign bone cartilaginous tumor disease known as metachondromatosis.
|
25178522 |
2014 |
Metachondromatosis
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection.
|
23726368 |
2013 |
Metachondromatosis
|
0.750 |
GermlineCausalMutation
|
disease |
ORPHANET |
We conclude that heterozygous loss-of-function mutations in PTPN11 are a frequent cause of MC, that lesions in patients with MC appear to arise following a "second hit," that MC may be locus heterogeneous since 1 familial and 5 sporadically occurring cases lacked obvious disease-causing PTPN11 mutations, and that PTPN11 mutations are not a common cause of Ollier disease or Maffucci syndrome.
|
21533187 |
2011 |
Metachondromatosis
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
We conclude that heterozygous loss-of-function mutations in PTPN11 are a frequent cause of MC, that lesions in patients with MC appear to arise following a "second hit," that MC may be locus heterogeneous since 1 familial and 5 sporadically occurring cases lacked obvious disease-causing PTPN11 mutations, and that PTPN11 mutations are not a common cause of Ollier disease or Maffucci syndrome.
|
21533187 |
2011 |
Metachondromatosis
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
We conclude that heterozygous loss-of-function mutations in PTPN11 are a frequent cause of MC, that lesions in patients with MC appear to arise following a "second hit," that MC may be locus heterogeneous since 1 familial and 5 sporadically occurring cases lacked obvious disease-causing PTPN11 mutations, and that PTPN11 mutations are not a common cause of Ollier disease or Maffucci syndrome.
|
21533187 |
2011 |
Metachondromatosis
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.
|
21407260 |
2011 |
Metachondromatosis
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
Lethal presentation of neurofibromatosis and Noonan syndrome.
|
21567923 |
2011 |
Metachondromatosis
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling.
|
20308328 |
2010 |
Metachondromatosis
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?
|
21340158 |
2010 |
Metachondromatosis
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene.
|
20577567 |
2010 |
Metachondromatosis
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
Negative regulation of Stat3 by activating PTPN11 mutants contributes to the pathogenesis of Noonan syndrome and juvenile myelomonocytic leukemia.
|
19509418 |
2009 |
Metachondromatosis
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation.
|
18253957 |
2008 |
Metachondromatosis
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations.
|
16399795 |
2006 |