|
rs78311289
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3.
|
21510009 |
2011 |
|
rs78311289
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene.
|
18000903 |
2007 |
|
rs78311289
|
|
C |
0.720 |
GeneticVariation |
CLINVAR |
Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene.
|
18000903 |
2007 |
|
rs587779383
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Familial acanthosis nigricans due to K650T FGFR3 mutation.
|
17875876 |
2007 |
|
rs1014959895
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1251713297
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs28931615
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans.
|
31016899 |
2019 |
|
rs121913105
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Herein, we detail three new cases of AN</span> with p.K650T FGFR3 mutation, and review the 21 known cases.
|
29068064 |
2018 |
|
rs121913105
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The p.Lys650Thr pathogenic variant in FGFR3 has been linked to acanthosis nigricans without significant craniofacial or skeletal abnormalities.
|
28181399 |
2017 |
|
rs121913105
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The proband and ten relatives presented HCH plus AN and the analysis of FGFR3 showed the p.Lys650Thr mutation.
|
18583390 |
2008 |
|
rs28931615
|
|
|
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 |
|
rs121913105
|
|
|
0.040 |
GeneticVariation |
BEFREE |
A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.
|
10053006 |
1999 |
|
rs28931615
|
|
|
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 |
|
rs28931615
|
|
|
0.040 |
GeneticVariation |
BEFREE |
A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans.
|
8880573 |
1996 |
|
rs121913135
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, a Japanese boy with insulin resistance and acanthosis nigricans was found to be heterozygous for a mutation of the insulin receptor gene that resulted in the replacement of glycine-996 with valine in the ATP binding site of the receptor.
|
31827016 |
2019 |
|
rs2963
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The ancestral T allele of single nucleotide polymorphism rs2963 or the corresponding haplotype (GGTC-C) showed association with PCOS with odds ratio 2.99, 95% confidence interval 1.4-6.3, independent of obesity but related to the presence of Acanthosis nigricans and insulin resistance, metabolic syndrome, or hyperandrogeny, thus providing a frame for future fine mapping of the susceptibility loci in PCOS.
|
20493471 |
2010 |
|
rs587777260
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A female presenting at age 11 years with acanthosis nigricans and extreme postprandial hyperinsulinemia was heterozygous for a premature stop mutation (R363X) in TBC1D4.
|
19470471 |
2009 |
|
rs1445362103
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We examined the properties of a mutant insulin receptor (IR) with an Arg(252) to Cys (IR(R252C)) substitution in the alpha-subunit originally identified in a patient with extreme insulin resistance and acanthosis nigricans.
|
12107746 |
2002 |
|
rs752411521
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We examined the properties of a mutant insulin receptor (IR) with an Arg(252) to Cys (IR(R252C)) substitution in the alpha-subunit originally identified in a patient with extreme insulin resistance and acanthosis nigricans.
|
12107746 |
2002 |