|
rs1554108389
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs367543286
|
|
|
0.030 |
GeneticVariation |
BEFREE |
This study aimed to analyze the phosphorylation of important kinases in the NSTS-47 cell line derived from a tumor of a boy with infantile myofibromatosis who harbored the p.R561C mutation in PDGFR-beta.
|
30200486 |
2018 |
|
rs367543286
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In particular, the germline mutant identified in overgrowth syndrome, P584R, was a stronger oncogene than the germline R561C mutant associated with myofibromatosis.
|
26455322 |
2016 |
|
rs367543286
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We identified a germline mutation c.1681C>T (p.Arg561Cys) in platelet-derived growth factor receptor β (PDGFRB) in all 11 affected individuals with familial IM, although none of the five individuals with nonfamilial IM had mutations in this gene.
|
23731537 |
2013 |
|
rs864309711
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Missense variants located to the "molecular brake" in the tyrosine kinase hinge region of platelet-derived growth factor receptor-β, encoded by PFGFRB, can cause Penttinen-type (Val665Ala) and Penttinen-like (Asn666His) premature ageing syndromes, as well as infantile myofibromatosis (Asn666Lys and Pro660Thr).
|
30573803 |
2019 |
|
rs864309711
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In the present study, the activity of three PDGFRB mutants associated with familial IM (R561C, P660T and N666K) and one PDGFRB mutant found in patients with overgrowth syndrome (P584R) was tested in various models.
|
26455322 |
2016 |
|
rs144050370
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Missense variants located to the "molecular brake" in the tyrosine kinase hinge region of platelet-derived growth factor receptor-β, encoded by PFGFRB, can cause Penttinen-type (Val665Ala) and Penttinen-like (Asn666His) premature ageing syndromes, as well as infantile myofibromatosis (Asn666Lys and Pro660Thr).
|
30573803 |
2019 |
|
rs1554108211
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Missense variants located to the "molecular brake" in the tyrosine kinase hinge region of platelet-derived growth factor receptor-β, encoded by PFGFRB, can cause Penttinen-type (Val665Ala) and Penttinen-like (Asn666His) premature ageing syndromes, as well as infantile myofibromatosis (Asn666Lys and Pro660Thr).
|
30573803 |
2019 |
|
rs797044887
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Missense variants located to the "molecular brake" in the tyrosine kinase hinge region of platelet-derived growth factor receptor-β, encoded by PFGFRB, can cause Penttinen-type (Val665Ala) and Penttinen-like (Asn666His) premature ageing syndromes, as well as infantile myofibromatosis (Asn666Lys and Pro660Thr).
|
30573803 |
2019 |
|
rs121912678
|
|
|
0.010 |
GeneticVariation |
BEFREE |
She underwent whole-exome sequencing (WES) as part of the FORGE study to identify the gene for infantile myofibromatosis; however a de novo dominant mutation in ACVR1 (NM_001105.4:c.617G>A) revised the diagnosis to FOP.
|
25899773 |
2015 |