|
Congenital adrenal hyperplasia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In particular, non-random occurrence was revealed for SERPINA1 c.1096G > A (alpha-1 antitrypsin deficiency), C8B c.1282C > T and c.1653G > A (complement component 8B deficiency), ATP7B c.3207C > A (Wilson disease), PROP1 c.301_302delAG (combined pituitary hormone deficiency), CYP21A2 c.844G > T (non-classical form of adrenogenital syndrome), EYS c.1155T > A (retinitis pigmentosa), HADHA c.1528G > C (LCHAD deficiency), SCO2 c.418G > A (cytochrome c oxidase deficiency), OTOA c.2359G > T (sensorineural deafness), C2 c.839_866del (complement component 2 deficiency), ACADVL c.848T > C (VLCAD deficiency), TGM5 c.337G > T (acral peeling skin syndrome) and VWF c.2561 G > A (von Willebrand disease, type 2N).
|
31028847 |
2019 |
|
Sensorineural Hearing Loss (disorder)
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In particular, non-random occurrence was revealed for SERPINA1 c.1096G > A (alpha-1 antitrypsin deficiency), C8B c.1282C > T and c.1653G > A (complement component 8B deficiency), ATP7B c.3207C > A (Wilson disease), PROP1 c.301_302delAG (combined pituitary hormone deficiency), CYP21A2 c.844G > T (non-classical form of adrenogenital syndrome), EYS c.1155T > A (retinitis pigmentosa), HADHA c.1528G > C (LCHAD deficiency), SCO2 c.418G > A (cytochrome c oxidase deficiency), OTOA c.2359G > T (sensorineural deafness), C2 c.839_866del (complement component 2 deficiency), ACADVL c.848T > C (VLCAD deficiency), TGM5 c.337G > T (acral peeling skin syndrome) and VWF c.2561 G > A (von Willebrand disease, type 2N).
|
31028847 |
2019 |
|
Lupus Erythematosus, Systemic
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Four proteins were significantly different between PMA-NETs from RA and SLE neutrophils (<i>p</i> < 0.05): RNASE2 was higher in RA, whereas MPO, leukocyte elastase inhibitor and thymidine phosphorylase were higher in SLE.
|
30915077 |
2019 |
|
Aortic Aneurysm, Abdominal
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Overexpression of SCO2 restored the beneficial effect of CR on antagonizing Ang II-induced expression of AAA-related molecules and reactive oxygen species generation in p53<sup>-/-</sup> vascular smooth muscle cells.
|
30686087 |
2019 |
|
alpha 1-Antitrypsin Deficiency
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In particular, non-random occurrence was revealed for SERPINA1 c.1096G > A (alpha-1 antitrypsin deficiency), C8B c.1282C > T and c.1653G > A (complement component 8B deficiency), ATP7B c.3207C > A (Wilson disease), PROP1 c.301_302delAG (combined pituitary hormone deficiency), CYP21A2 c.844G > T (non-classical form of adrenogenital syndrome), EYS c.1155T > A (retinitis pigmentosa), HADHA c.1528G > C (LCHAD deficiency), SCO2 c.418G > A (cytochrome c oxidase deficiency), OTOA c.2359G > T (sensorineural deafness), C2 c.839_866del (complement component 2 deficiency), ACADVL c.848T > C (VLCAD deficiency), TGM5 c.337G > T (acral peeling skin syndrome) and VWF c.2561 G > A (von Willebrand disease, type 2N).
|
31028847 |
2019 |
|
Adrenogenital Syndrome
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In particular, non-random occurrence was revealed for SERPINA1 c.1096G > A (alpha-1 antitrypsin deficiency), C8B c.1282C > T and c.1653G > A (complement component 8B deficiency), ATP7B c.3207C > A (Wilson disease), PROP1 c.301_302delAG (combined pituitary hormone deficiency), CYP21A2 c.844G > T (non-classical form of adrenogenital syndrome), EYS c.1155T > A (retinitis pigmentosa), HADHA c.1528G > C (LCHAD deficiency), SCO2 c.418G > A (cytochrome c oxidase deficiency), OTOA c.2359G > T (sensorineural deafness), C2 c.839_866del (complement component 2 deficiency), ACADVL c.848T > C (VLCAD deficiency), TGM5 c.337G > T (acral peeling skin syndrome) and VWF c.2561 G > A (von Willebrand disease, type 2N).
|
31028847 |
2019 |
|
von Willebrand Disease, Type 2N
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In particular, non-random occurrence was revealed for SERPINA1 c.1096G > A (alpha-1 antitrypsin deficiency), C8B c.1282C > T and c.1653G > A (complement component 8B deficiency), ATP7B c.3207C > A (Wilson disease), PROP1 c.301_302delAG (combined pituitary hormone deficiency), CYP21A2 c.844G > T (non-classical form of adrenogenital syndrome), EYS c.1155T > A (retinitis pigmentosa), HADHA c.1528G > C (LCHAD deficiency), SCO2 c.418G > A (cytochrome c oxidase deficiency), OTOA c.2359G > T (sensorineural deafness), C2 c.839_866del (complement component 2 deficiency), ACADVL c.848T > C (VLCAD deficiency), TGM5 c.337G > T (acral peeling skin syndrome) and VWF c.2561 G > A (von Willebrand disease, type 2N).
|
31028847 |
2019 |
|
Trifunctional Protein Deficiency With Myopathy And Neuropathy
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In particular, non-random occurrence was revealed for SERPINA1 c.1096G > A (alpha-1 antitrypsin deficiency), C8B c.1282C > T and c.1653G > A (complement component 8B deficiency), ATP7B c.3207C > A (Wilson disease), PROP1 c.301_302delAG (combined pituitary hormone deficiency), CYP21A2 c.844G > T (non-classical form of adrenogenital syndrome), EYS c.1155T > A (retinitis pigmentosa), HADHA c.1528G > C (LCHAD deficiency), SCO2 c.418G > A (cytochrome c oxidase deficiency), OTOA c.2359G > T (sensorineural deafness), C2 c.839_866del (complement component 2 deficiency), ACADVL c.848T > C (VLCAD deficiency), TGM5 c.337G > T (acral peeling skin syndrome) and VWF c.2561 G > A (von Willebrand disease, type 2N).
|
31028847 |
2019 |
|
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In particular, non-random occurrence was revealed for SERPINA1 c.1096G > A (alpha-1 antitrypsin deficiency), C8B c.1282C > T and c.1653G > A (complement component 8B deficiency), ATP7B c.3207C > A (Wilson disease), PROP1 c.301_302delAG (combined pituitary hormone deficiency), CYP21A2 c.844G > T (non-classical form of adrenogenital syndrome), EYS c.1155T > A (retinitis pigmentosa), HADHA c.1528G > C (LCHAD deficiency), SCO2 c.418G > A (cytochrome c oxidase deficiency), OTOA c.2359G > T (sensorineural deafness), C2 c.839_866del (complement component 2 deficiency), ACADVL c.848T > C (VLCAD deficiency), TGM5 c.337G > T (acral peeling skin syndrome) and VWF c.2561 G > A (von Willebrand disease, type 2N).
|
31028847 |
2019 |
|
Cardiac Arrhythmia
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
To test the hypothesis that the SCO2 mutation is associated with mitochondrial abnormalities, and intracellular Ca<sup>2+</sup> -overload resulting in functional derangements and arrhythmias, we investigated in SCO2-mutated iPSC-CMs (compared to control cardiomyocytes): (i) the ultrastructural changes; (ii) the inotropic responsiveness to β-adrenergic stimulation, increased [Ca<sup>2+</sup> ]<sub>o</sub> and angiotensin-II (AT-II); and (iii) the Beat Rate Variability (BRV) characteristics.
|
29193756 |
2018 |
|
Cardiovascular Diseases
|
0.010 |
Biomarker
|
group |
BEFREE |
Thymidine phosphorylase: A potential new target for treating cardiovascular disease.
|
29108898 |
2018 |
|
Charcot-Marie-Tooth Disease
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency.
|
29351582 |
2018 |
|
Ventricular Septal Defects
|
0.010 |
GeneticVariation
|
group |
BEFREE |
There were no data on epigenomic association of CHD in Africa, however, other studies have shown an altered expression of miR-421 and miR-1233-3p to be associated with TOF and hypermethylation of CpG islands in the promoter of SCO2 gene also been associated with TOF and VSD in children with non-syndromic CHD.
|
29762087 |
2018 |
|
Neoplasms, Experimental
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
3'-Deoxy-3'-[<sup>18</sup>F]Fluorothymidine Uptake Is Related to Thymidine Phosphorylase Expression in Various Experimental Tumor Models.
|
28971330 |
2018 |
|
Tetralogy of Fallot
|
0.010 |
PosttranslationalModification
|
disease |
BEFREE |
There were no data on epigenomic association of CHD in Africa, however, other studies have shown an altered expression of miR-421 and miR-1233-3p to be associated with TOF and hypermethylation of CpG islands in the promoter of SCO2 gene also been associated with TOF and VSD in children with non-syndromic CHD.
|
29762087 |
2018 |
|
Adenocarcinoma of lung (disorder)
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
In our study, the expression of SCO2 and TIGAR proteins in lung AC was detected, and the potential relation to prognosis was evaluated, aiming to take a further view of lung AC progression.
|
29634976 |
2018 |
|
Polyneuropathy
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Significantly expanding the known phenotypic spectrum, we identified compound heterozygous variants in SCO2 in two unrelated patients with axonal polyneuropathy, also known as Charcot-Marie-Tooth disease type 4.
|
29351582 |
2018 |
|
Hypocupremia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency.
|
29351582 |
2018 |
|
Gastrointestinal symptom
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder caused by thymidine phosphorylase (TP) deficiency resulting in systemic accumulation of thymidine (d-Thd) and deoxyuridine (d-Urd) and characterized by early-onset neurological and gastrointestinal symptoms.
|
29687034 |
2018 |
|
Charcot-Marie-Tooth disease type 4
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Significantly expanding the known phenotypic spectrum, we identified compound heterozygous variants in SCO2 in two unrelated patients with axonal polyneuropathy, also known as Charcot-Marie-Tooth disease type 4.
|
29351582 |
2018 |
|
Renal Cell Carcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
High TP expression and thrombocytosis can be regarded as independent prognostic factors of poor survival in patients with RCC.
|
27532673 |
2017 |
|
Myasthenia Gravis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The chromosome 22 disorder, due to mutations in the nuclear gene TYMP encoding thymidine phosphorylase (TP), leads to the accumulation of thymidine and deoxyuridine, with mitochondrial dysfunction.This report describes a patient with an MNGIE-like syndrome with a heterozygous TYMP mutation who showed marked, but transient improvement postallogeneic haematopoietic stem cell transplantation (HSCT).The patient, showing ptosis and ophthalmoplegia, was initially managed for myasthenia gravis.
|
28765176 |
2017 |
|
Dystonia Disorders
|
0.010 |
Biomarker
|
group |
BEFREE |
These factors afford stability of newly synthesized COX2 (the dystonia-ataxia syndrome protein COX20), a protein with two transmembrane domains, and maturation of its copper center, Cu<sub>A</sub> (cardiomyopathy proteins SCO1, SCO2, and COA6).
|
28330871 |
2017 |
|
Bone Diseases
|
0.010 |
Biomarker
|
group |
BEFREE |
A recent study implicates thymidine phosphorylase in myeloma-induced bone disease and suggests that inhibiting the enzyme may be a viable therapeutic option.
|
27658717 |
2016 |
|
Multiple Myeloma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Thymidine phosphorylase exerts complex effects on bone resorption and formation in myeloma.
|
27559096 |
2016 |