|
Thanatophoric Dysplasia
|
|
0.050 |
GeneticVariation
|
BEFREE |
A sporadic mutation causing a Lys650Glu change in the tyrosine kinase domain of FGFR3 was found in 16 of 16 individuals with one type of TD.
|
7773297 |
1995 |
|
Thanatophoric Dysplasia
|
|
0.050 |
GeneticVariation
|
BEFREE |
Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cells that were infected with lentivirus expressing constitutively active mutants of FGFR3-K650E causing thanatophoric dysplasia, FGFR3-K650M causing SADDAN, and FGFR3-G380R causing ACH.
|
24324705 |
2013 |
|
Thanatophoric Dysplasia
|
|
0.050 |
GeneticVariation
|
BEFREE |
Screening of 30 spermatocytic seminomas for oncogenic mutations in 17 genes identified 2 mutations in FGFR3 (both 1948A>G, encoding K650E, which causes thanatophoric dysplasia in the germline) and 5 mutations in HRAS.
|
19855393 |
2009 |
|
Thanatophoric Dysplasia
|
|
0.050 |
GeneticVariation
|
BEFREE |
Here we compared the ubiquitylation of either wild type or a K508A 'kinase-dead' mutant of fibroblast growth factor receptor 3 (FGFR3) with that of its naturally occurring overactive mutants, G380R as in achondroplasia, or K650E involved in thanatophoric dysplasia.
|
12297284 |
2002 |
|
Osteochondrodysplasias
|
|
0.020 |
GeneticVariation
|
BEFREE |
Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene.
|
18000903 |
2007 |
|
Osteochondrodysplasias
|
|
0.020 |
GeneticVariation
|
BEFREE |
One tumour contained K652Q which has recently been identified in less severe cases of skeletal dysplasia.
|
11314002 |
2001 |
|
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
|
|
0.010 |
GeneticVariation
|
BEFREE |
Two missense mutations in this codon are known to result in strong constitutive activation of the FGFR3 tyrosine kinase and cause three different skeletal dysplasia syndromes-thanatophoric dysplasia type II (TD2) (A1948G [Lys650Glu]) and SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) syndrome and thanatophoric dysplasia type I (TD1) (both due to A1949T [Lys650Met]).
|
11055896 |
2000 |
|
Disorder of skeletal system
|
|
0.010 |
GeneticVariation
|
BEFREE |
The K650E substitution in the fibroblast growth factor receptor 3 (FGFR3) causes constitutive tyrosine kinase activity of the receptor and is associated to the lethal skeletal disorder, thanatophoric dysplasia type II (TDII).
|
12624096 |
2003 |
|
Carcinogenesis
|
|
0.010 |
GeneticVariation
|
BEFREE |
The K650E gain-of-function mutation in the tyrosine kinase domain of FGF receptor 3 (FGFR3) causes Thanatophoric Dysplasia type II, a neonatal lethal congenital dwarfism syndrome, and when acquired somatically, it contributes to carcinogenesis.
|
23972473 |
2013 |
|
Hyperinsulinism
|
|
0.010 |
GeneticVariation
|
BEFREE |
The K650Q mutation was confirmed, but in contrast to the previous case, we additionally report findings of hyperinsulinemia.
|
20453470 |
2010 |
|
Malignant Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
Constitutively active FGFR3 with Lys650Glu mutation enhances bortezomib sensitivity in plasma cell malignancy.
|
21273588 |
2011 |
|
Skeletal dysplasia
|
|
0.010 |
GeneticVariation
|
BEFREE |
One tumour contained K652Q which has recently been identified in less severe cases of skeletal dysplasia.
|
11314002 |
2001 |
|
Plasmacytoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Cell apoptosis assays were performed in a plasmacytoma cell line, FR4 cells and a myeloma cell line, RPMI8226 cells overexpressing wild-type FGFR3 (FGFR3(WT)) or two different mutants, FGFR3(K650E) or FGFR3(Y373C), and the induction of endoplasmic reticulum (ER) stress protein was compared between each type of cell.
|
21273588 |
2011 |
|
Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
One tumour contained K652Q which has recently been identified in less severe cases of skeletal dysplasia.
|
11314002 |
2001 |
|
Primary malignant neoplasm
|
|
0.010 |
GeneticVariation
|
BEFREE |
Constitutively active FGFR3 with Lys650Glu mutation enhances bortezomib sensitivity in plasma cell malignancy.
|
21273588 |
2011 |
|
Chondrosarcoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cells that were infected with lentivirus expressing constitutively active mutants of FGFR3-K650E causing thanatophoric dysplasia, FGFR3-K650M causing SADDAN, and FGFR3-G380R causing ACH.
|
24324705 |
2013 |
|
Mucopolysaccharidosis IV
|
|
0.010 |
GeneticVariation
|
BEFREE |
Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene.
|
18000903 |
2007 |
|
Thanatophoric dysplasia, type 2
|
|
0.890 |
CausalMutation
|
CLINVAR |
|
|
|
|
Malignant neoplasm of urinary bladder
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Multiple Myeloma
|
|
0.730 |
CausalMutation
|
CLINVAR |
|
|
|
|
Craniosynostosis
|
|
0.720 |
CausalMutation
|
CLINVAR |
Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3.
|
21510009 |
2011 |
|
Acanthosis Nigricans
|
|
0.720 |
GeneticVariation
|
CLINVAR |
Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene.
|
18000903 |
2007 |
|
Craniosynostosis
|
|
0.720 |
CausalMutation
|
CLINVAR |
Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.
|
11055896 |
2000 |
|
Craniosynostosis
|
|
0.720 |
CausalMutation
|
CLINVAR |
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.
|
16912704 |
2006 |
|
Craniosynostosis
|
|
0.720 |
CausalMutation
|
CLINVAR |
FGFR3 mutations and the skin: report of a patient with a FGFR3 gene mutation, acanthosis nigricans, hypochondroplasia and hyperinsulinemia and review of the literature.
|
20453470 |
2010 |