Winter Shortland Temple syndrome
|
0.710 |
GeneticVariation
|
disease |
BEFREE |
Medulloblastoma in a Patient with Curry-Jones Syndrome with a mosaic variant, c.1234C > T (p.Leu412Phe), in SMO.
|
31825089 |
2020 |
Winter Shortland Temple syndrome
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.
|
27236920 |
2016 |
Winter Shortland Temple syndrome
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.
|
27236920 |
2016 |
Winter Shortland Temple syndrome
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.
|
27236920 |
2016 |
Winter Shortland Temple syndrome
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.
|
27236920 |
2016 |
Winter Shortland Temple syndrome
|
0.710 |
SomaticCausalMutation
|
disease |
ORPHANET |
A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.
|
27236920 |
2016 |
Winter Shortland Temple syndrome
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Identification of recurrent SMO and BRAF mutations in ameloblastomas.
|
24859340 |
2014 |
Winter Shortland Temple syndrome
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Winter Shortland Temple syndrome
|
0.710 |
Biomarker
|
disease |
CTD_human |
|
|
|
Carcinoma, Basal Cell
|
0.700 |
Biomarker
|
disease |
BEFREE |
Somatic mutations in the components of Hh signaling (PTCH1 and SMO) have been shown to be a major cause of basal cell carcinoma, and dozens of Hh inhibitors have been developed.
|
31775795 |
2019 |
Carcinoma, Basal Cell
|
0.700 |
Biomarker
|
disease |
BEFREE |
Interestingly, BCNS-BCCs are more responsive to SMO inhibitors than sporadic BCCs, with minimal development of resistance.
|
29111235 |
2018 |
Carcinoma, Basal Cell
|
0.700 |
Biomarker
|
disease |
BEFREE |
The smoothened (SMO) receptor is an essential component of the Sonic hedgehog (SHH) signalling, which is associated with the development of skin basal cell carcinoma (BCC).
|
29776351 |
2018 |
Carcinoma, Basal Cell
|
0.700 |
Biomarker
|
disease |
CTD_human |
Eighty-five percent of the BCCs harbored mutations in Hh pathway genes (PTCH1, 73% or SMO, 20% (P = 6.6 × 10(-8)) and SUFU, 8%) and in TP53 (61%).
|
26950094 |
2016 |
Carcinoma, Basal Cell
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Other genotypes, such as the TT in SHH rs104894049 331 A/T and the GG in SMO rs41303402 rs41303402" genes_norm="5727;6608">385 G/A also statistically raised the risk of BCC, but these associations were weaker.
|
26590974 |
2016 |
Carcinoma, Basal Cell
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Smoothened variants explain the majority of drug resistance in basal cell carcinoma.
|
25759020 |
2015 |
Carcinoma, Basal Cell
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations that occur in BCC in hedgehog (Hh) pathway genes primarily involve the genes encoding patched homolog (PTCH) and smoothened homolog (SMO).
|
25766766 |
2015 |
Carcinoma, Basal Cell
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Smoothened (SMO) receptor mutations dictate resistance to vismodegib in basal cell carcinoma.
|
25306392 |
2015 |
Carcinoma, Basal Cell
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The constitutive activation of the sonic hedgehog signaling pathway by acquired mutations in the PTCH and SMO genes appears to represent the early basal cell carcinoma developmental determinant.
|
25207369 |
2014 |
Carcinoma, Basal Cell
|
0.700 |
Biomarker
|
disease |
BEFREE |
The immunoexpression of the Shh and Smo proteins significantly increased in the BCC group, as compared with the normal controls (for Shh, the mean intensity was 1.67 in BCC vs. 1.17 in the control group, p < 0.001; for Smo, the mean intensity was 1.46 in BCC vs. 0.99 in the control group, p < 0.001).
|
24203628 |
2013 |
Carcinoma, Basal Cell
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In addition to those that are potential germline polymorphisms, we found three SMO missense mutations, and one PTCH1 frameshift mutation that are novel and have not been documented in basal cell carcinoma.
|
23349881 |
2013 |
Carcinoma, Basal Cell
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Vismodegib.
|
22679179 |
2012 |
Carcinoma, Basal Cell
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Smoothened mutation confers resistance to a Hedgehog pathway inhibitor in medulloblastoma.
|
19726788 |
2009 |
Carcinoma, Basal Cell
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Some tumors exhibiting hedgehog pathway activation such as basal cell cancer frequently harbor PATCHED-ONE (PTCH-1) or SMOOTHENED (SMO) gene mutations.
|
18543049 |
2008 |
Carcinoma, Basal Cell
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SMO gene have been identified in basal cell carcinoma and in medulloblastoma, both of which are features of NBCCS.
|
18502968 |
2008 |
Carcinoma, Basal Cell
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Somatic SMO mutations have also been found in some basal cell carcinomas.
|
17214858 |
2007 |