Acanthosis Nigricans
|
|
0.040 |
GeneticVariation
|
BEFREE |
Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans.
|
31016899 |
2019 |
Acanthosis Nigricans
|
|
0.040 |
GeneticVariation
|
BEFREE |
A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans.
|
8880573 |
1996 |
Acanthosis Nigricans
|
|
0.040 |
GeneticVariation
|
BEFREE |
All three patients with the crouzonoid phenotype and acanthosis nigricans had the same mutation in exon 10 of FGFR3 (Ala391Glu).
|
10541159 |
1999 |
Acanthosis Nigricans
|
|
0.040 |
GeneticVariation
|
BEFREE |
Bilateral basilar venous atresia is most common in patients with the FGFR3 ala391glu mutation and crouzonoid features with acanthosis nigricans, but may be found in patients with FGFR2 mutations.
|
11039354 |
2000 |
Achondroplasia
|
|
0.010 |
GeneticVariation
|
BEFREE |
Since the Ala391Glu substitution in FGFR3 is close to the substitutions in the transmembrane domain that result in achondroplasia, we carefully reviewed the skeletal findings in six patients.
|
11426459 |
2001 |
Atresia
|
|
0.010 |
GeneticVariation
|
BEFREE |
Bilateral basilar venous atresia is most common in patients with the FGFR3 ala391glu mutation and crouzonoid features with acanthosis nigricans, but may be found in patients with FGFR2 mutations.
|
11039354 |
2000 |
Bladder Neoplasm
|
|
0.020 |
GeneticVariation
|
BEFREE |
An example of a TM domain pathogenic mutation is the Ala391-->Glu mutation in fibroblast growth factor receptor 3 (FGFR3), linked to Crouzon syndrome with acanthosis nigricans, as well as to bladder cancer.
|
16384584 |
2006 |
Bladder Neoplasm
|
|
0.020 |
GeneticVariation
|
BEFREE |
First, we show that the A391E mutation, linked to Crouzon syndrome with acanthosis nigricans and to bladder cancer, significantly enhances FGFR3 dimerization in the absence of ligand and thus induces aberrant receptor interactions.
|
26244699 |
2015 |
Carcinoma
|
|
0.700 |
GeneticVariation
|
CLINVAR |
The strong dimerization of the transmembrane domain of the fibroblast growth factor receptor (FGFR) is modulated by C-terminal juxtamembrane residues.
|
19165726 |
2009 |
Carcinoma of bladder
|
|
0.020 |
GeneticVariation
|
BEFREE |
First, we show that the A391E mutation, linked to Crouzon syndrome with acanthosis nigricans and to bladder cancer, significantly enhances FGFR3 dimerization in the absence of ligand and thus induces aberrant receptor interactions.
|
26244699 |
2015 |
Carcinoma of bladder
|
|
0.020 |
GeneticVariation
|
BEFREE |
An example of a TM domain pathogenic mutation is the Ala391-->Glu mutation in fibroblast growth factor receptor 3 (FGFR3), linked to Crouzon syndrome with acanthosis nigricans, as well as to bladder cancer.
|
16384584 |
2006 |
Craniofacial Dysostosis
|
|
0.020 |
GeneticVariation
|
BEFREE |
Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans.
|
31016899 |
2019 |
Craniofacial Dysostosis
|
|
0.020 |
GeneticVariation
|
BEFREE |
A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans.
|
8880573 |
1996 |
Craniofacial dysostosis type 1
|
|
0.020 |
GeneticVariation
|
BEFREE |
Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans.
|
31016899 |
2019 |
Craniofacial dysostosis type 1
|
|
0.020 |
GeneticVariation
|
BEFREE |
A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans.
|
8880573 |
1996 |
Craniosynostosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans.
|
8880573 |
1996 |
Craniosynostosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
A newborn with acanthosis nigricans: can it be Crouzon syndrome with acanthosis nigricans?
|
20199409 |
2010 |
Craniosynostosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
The A391E mutation enhances FGFR3 activation in the absence of ligand.
|
21536014 |
2011 |
Craniosynostosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Multiple consequences of a single amino acid pathogenic RTK mutation: the A391E mutation in FGFR3.
|
23437153 |
2013 |
Craniosynostosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3.
|
11426459 |
2001 |
Craniosynostosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans.
|
7493034 |
1995 |
Craniosynostosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Pathogenic activation of receptor tyrosine kinases in mammalian membranes.
|
18976668 |
2008 |
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
|
|
0.870 |
GeneticVariation
|
UNIPROT |
Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans.
|
7493034 |
1995 |
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
|
|
0.870 |
GeneticVariation
|
UNIPROT |
The molecular abnormality associated with Crouzon syndrome with acanthosis nigricans (CAN) is a transition in the transmembrane domain of the FGFR3 gene that results in an Ala391Glu mutation.
|
17935505 |
2007 |
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
|
|
0.870 |
GeneticVariation
|
BEFREE |
The p.Ala391Glu change has been predominantly identified in patients with Crouzon syndrome with acanthosis nigricans.
|
31016899 |
2019 |