|
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
A novel ASPH variant extends the phenotype of Shawaf-Traboulsi syndrome.
|
30194805 |
2018 |
|
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
We have previously described a syndrome characterized by facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs (FDLAB, or Traboulsi syndrome).
|
24768550 |
2014 |
|
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome.
|
24768550 |
2014 |
|
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
|
0.720 |
GermlineCausalMutation
|
disease |
ORPHANET |
We have previously described a syndrome characterized by facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs (FDLAB, or Traboulsi syndrome).
|
24768550 |
2014 |
|
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
We have previously described a syndrome characterized by facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs (FDLAB, or Traboulsi syndrome).
|
24768550 |
2014 |
|
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
|
0.720 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Ectopia Lentis
|
0.110 |
Biomarker
|
disease |
BEFREE |
The truncating and missense mutations we identified are predicted to severely impair the enzymatic function of ASPH, which suggests a possible link to other forms of ectopia lentis given that many of the genes implicated in this phenotype encode proteins that harbor EGF domains.
|
24768550 |
2014 |
|
Ectopia Lentis
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
|
Liver carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Aspartate-β-hydroxylase (<i>AAH</i>) is a potential immunotherapeutic target for hepatocellular carcinoma (HCC).
|
31608722 |
2019 |
|
Liver carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Using CCRDB, we have further studied the relationships between circRNAs and HCC and found that circRNAs (hsa_circ_ 0002130, hsa_circ_0084615, hsa_circ_0001445, hsa_circ_0001727 and hsa_circ_0001361) and the corresponding genes ID [C3 (2, 3), ASPH (4), SMARCA5 (5), ZKSCAN1 (6) and FNDC3B (7)], respectively, might be the potential biomarker targets for HCC.
|
31219565 |
2019 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
We investigated if the 2-OG dependent dioxygenase, aspartate beta-hydroxylase (ASPH) was important in tumor development and growth.
|
29733964 |
2018 |
|
Blood Protein Measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genomic atlas of the human plasma proteome.
|
29875488 |
2018 |
|
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Our previous study demonstrated an increased expression of aspartate β-hydroxylase (ASPH) in HCC tissues, which was associated with tumor invasiveness and a worse prognosis.
|
28714949 |
2017 |
|
RESTING HEART RATE
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants.
|
28270201 |
2017 |
|
Liver carcinoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
In contrast, knocking down ASPH by siRNA in HCC cell lines showed the opposite impact on mtDNA integrity and function.
|
28714949 |
2017 |
|
Liver carcinoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Focusing on the mechanisms underlying endocrine resistance, we investigated whether the endocrine sensitivity of ER-positive breast cancer cells was correlated with the expression of aspartate-β-hydroxylase (ASPH), which is involved in the development of hepatocellular carcinoma.
|
28985022 |
2017 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
These findings demonstrate the critical involvement of ASPH in PC growth and progression, provide new insight into the molecular mechanisms leading to tumor development and growth and have important therapeutic implications.
|
25483102 |
2015 |
|
Liver carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
The results showed that 117 (97.5%) of the 120 frozen sections of patients with HCCs had HAAH/humbug-positive immunoreactivity, whereas the 40 adjacent non-tumor liver tissues exhibited no staining.
|
25394783 |
2015 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Immunization with ASPH-loaded DCs generated cytotoxicity against cholangiocarcinoma cells in vitro and significantly suppressed intrahepatic tumor growth and metastasis, and was associated with increased CD3+ lymphocyte infiltration into the tumors.
|
21898484 |
2012 |
|
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
The distribution and expression profiles of human Aspartyl/Asparaginyl beta-hydroxylase in tumor cell lines and human tissues.
|
20878118 |
2010 |
|
Liver carcinoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
AAH overexpression in HCC is strongly correlated with worse surgical outcome, and this molecule likely provides a more precise prognostic predictor in early stage HCCs.
|
20578260 |
2010 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Humbug staining was detected in 85% of the neoplasms, 23% of which stained strongly.
|
17020779 |
2007 |
|
Liver carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Overexpression of aspartyl (asparaginyl) beta-hydroxylase (AAH) has been demonstrated in hepatocellular carcinoma, cholangiocarcinoma, and pancreatic carcinoma.
|
17020779 |
2007 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Therefore, AAH may represent an important target for regulating tumor growth in vivo.
|
16564107 |
2006 |