Carboxypeptidase N Deficiency
|
0.500 |
GeneticVariation
|
disease |
UNIPROT |
Therefore, using archival genomic DNA from a subject with documented carboxypeptidase N deficiency, we sequenced CPN1 (MIM 603103), which encodes the catalytic subunit of carboxypeptidase N. In the genomic DNA of the proband, we discovered three CPN1 variants: (1) 385fsInsG, a frameshift mutation in exon 1 due to a single G insertion at nucleotide 385; (2) 746G>A single-nucleotide polymorphism (SNP), a missense mutation in exon 3 that predicted substitution of aspartic acid for the wild-type conserved glycine at amino acid 178 (G178D); and (3) IVS1 +6C>T, an SNP in intron 1.
|
12560874 |
2003 |
Carboxypeptidase N Deficiency
|
0.500 |
Biomarker
|
disease |
CTD_human |
|
|
|
Dermatomyositis
|
0.110 |
GeneticVariation
|
disease |
GWASCAT |
Variation at HLA-DPB1 is associated with dermatomyositis in Chinese population.
|
27153935 |
2016 |
Dermatomyositis
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
Moreover, we identified two novel suggestive susceptibility loci (PIP and CPN1) and confirmed four previously reported genes (DMB, DQA1, DQB1 and DRB1) having potential associations with DM in the Chinese Han population.
|
27153935 |
2016 |
Alzheimer's Disease
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We examined brain specimens from 19 VaD patients, 16 elderly normal people and four Alzheimer's disease (AD) patients for the presence of a sequence in the Cpn gene for rRNA, using polymerase chain reaction (PCR) and taking stringent precautions against contamination.
|
12927758 |
2003 |
Anorexia Nervosa
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Importantly, ACBP levels were elevated in obese patients and reduced in anorexia nervosa.
|
31422903 |
2019 |
Fibroid Tumor
|
0.010 |
Biomarker
|
disease |
BEFREE |
In the present study, we examined the expression of glucose transporters (GLUT-1, GLUT-4) and fatty acids transporters (FAT/CD36, FATP-1, FATP-4) at transcript and protein levels as well as cytosolic fatty acid binding proteins (H-FABP, ACBP) in human fibroids (n=74, size up to 3cm diameter) and compared with pair-matched healthy myometrium.
|
26932421 |
2016 |
Obesity
|
0.010 |
Biomarker
|
disease |
BEFREE |
In conclusion, neutralization of ACBP might constitute a strategy for treating obesity and its co-morbidities.
|
31422903 |
2019 |
Septicemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
The L<sub>A</sub>-Sepsis CPN also has a modest ability to discriminate between sepsis and non-infectious SIRS.
|
27833000 |
2017 |
Adult type dermatomyositis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Moreover, we identified two novel suggestive susceptibility loci (PIP and CPN1) and confirmed four previously reported genes (DMB, DQA1, DQB1 and DRB1) having potential associations with DM in the Chinese Han population.
|
27153935 |
2016 |
Pancreatic carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
We performed a single-blind, randomized trial to compare the effectiveness of EUS-CPN and EUS-RFA for palliation of pain in pancreatic cancer.
|
30120957 |
2019 |
Systemic Inflammatory Response Syndrome
|
0.010 |
Biomarker
|
disease |
BEFREE |
The L<sub>A</sub>-Sepsis CPN also has a modest ability to discriminate between sepsis and non-infectious SIRS.
|
27833000 |
2017 |
Sepsis
|
0.010 |
Biomarker
|
disease |
BEFREE |
The L<sub>A</sub>-Sepsis CPN also has a modest ability to discriminate between sepsis and non-infectious SIRS.
|
27833000 |
2017 |
Malignant neoplasm of pancreas
|
0.010 |
Biomarker
|
disease |
BEFREE |
We performed a single-blind, randomized trial to compare the effectiveness of EUS-CPN and EUS-RFA for palliation of pain in pancreatic cancer.
|
30120957 |
2019 |
Non-alcoholic Fatty Liver Disease
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Here, we accessed the seven polymorphisms of rs1260326, rs780094 in GCKR, rs2954021 near TRIB1, rs2228603 in NCAN, rs58542926 in TM6SF2, rs12137855 near LYPLAL1, and rs10883437 near CPN1 on NAFLD susceptibility in the Uygur population.
|
30646922 |
2019 |
Glioblastoma Multiforme
|
0.010 |
Biomarker
|
disease |
BEFREE |
Thus, our findings uncover a critical link between lipid metabolism and GBM progression established by ACBP and offer a potential therapeutic strategy for an effective anti-proliferative metabolic management of GBM.
|
31056285 |
2019 |
Autoimmune arthritis
|
0.010 |
Biomarker
|
disease |
BEFREE |
Plasma carboxypeptidase B downregulates inflammatory responses in autoimmune arthritis.
|
21804193 |
2011 |
Angioedema
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
|
20881960 |
2010 |
Intelligence
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.
|
29844566 |
2018 |
Bone Mineral Density Test
|
0.100 |
GeneticVariation
|
phenotype |
GWASDB |
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
|
22504420 |
2012 |
Creatine kinase measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation.
|
23696881 |
2013 |
Creatine kinase measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASDB |
Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation.
|
23696881 |
2013 |
Creatine kinase measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
|
29403010 |
2018 |
Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASDB |
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
|
20881960 |
2010 |