|
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 |
|
Presenile dementia
|
0.010 |
Biomarker
|
disease |
BEFREE |
This study interviewed 231 PWD-caregiver dyads in a dementia clinic at a teaching hospital in southern Taiwan in 2013.
|
30520396 |
2019 |
|
Factor VII Deficiency
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We report statistically significant overrepresentation of pathogenic variants for several Mendelian disorders, including phenylketonuria (PAH, rs5030858), Wilson's disease (ATP7B, rs76151636), factor VII deficiency (F7, rs36209567), kyphoscoliosis type of Ehlers-Danlos syndrome (FKBP14, rs542489955), and several other recessive pathologies.
|
31482689 |
2019 |
|
Hepatitis, Chronic
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Veterinarians can test for the ATP7B gene mutation to identify Labrador Retrievers at risk for copper toxicosis so that they can take steps to prevent development of copper-associated chronic hepatitis in their patients.
|
31062085 |
2019 |
|
Polycystic Kidney, Autosomal Dominant
|
0.010 |
Biomarker
|
disease |
BEFREE |
For the first patient, a liver biopsy confirmed the pathological features of CHF, and genetic testing revealed three heterozygous missense mutations, which were classified as "undetermined" in the public Wilson's disease/ATP7B and ADPKD/PKD1 databases.
|
31096464 |
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 |
|
Panhypopituitarism
|
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 |
|
Malignant Head and Neck Neoplasm
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Copper-dependent ATP7B up-regulation drives the resistance of TMEM16A-overexpressing head-and-neck cancer models to platinum toxicity.
|
31790150 |
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 |
|
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II
|
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 |
|
Head and Neck Carcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Copper-dependent ATP7B up-regulation drives the resistance of TMEM16A-overexpressing head-and-neck cancer models to platinum toxicity.
|
31790150 |
2019 |
|
Atrial Fibrillation
|
0.010 |
Biomarker
|
disease |
BEFREE |
Max PWD was a useful predictor of AF recurrence and the complete recovery of LVSD after CA.
|
29713820 |
2018 |
|
Hypothyroidism
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Laboratory testing for hypothyroidism were unrevealing, as were the results for vitamin B12 and vitamin D. Testing for Wilson's disease revealed a ceruloplasmin concentration of 165 mg/L (Reference Interval, 160-450 mg/L), however sequencing of the ATP7B gene revealed no deleterious mutations.
|
29958879 |
2018 |
|
Tic disorder
|
0.010 |
Biomarker
|
disease |
BEFREE |
Max PWD, PTFV1, PTdV1, and PTaV1 were significantly greater in non-TIC-group than in TIC-group.
|
29713820 |
2018 |
|
Albinism, Oculocutaneous
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis was subsequently conducted, and the results revealed the p. (Arg778Leu) mutation in 1 allele and the p. (Asn1270Ser) mutation in the other allele of the ATP7B gene, confirming the diagnosis of WD; the p. (D456fs) mutation in 1 allele and the p. (R299H) mutation in the other allele of the TYR gene, confirming the diagnosis of OCA.
|
30558096 |
2018 |
|
Behavioral tic
|
0.010 |
Biomarker
|
disease |
BEFREE |
Max PWD, PTFV1, PTdV1, and PTaV1 were significantly greater in non-TIC-group than in TIC-group.
|
29713820 |
2018 |
|
Adrenal cortical hypofunction
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
ATP7B Mutation Detection and Pathogenicity Analysis: One Atypical Case of Wilson's Disease with Adrenocortical Insufficiency.
|
29181760 |
2018 |
|
Central Diabetes Insipidus
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Low serum albumin and genes RLBP1L1 and ASPH located on chromosome 8 and ATP7B on chromosome 13 were associated with CDI.
|
29594489 |
2018 |
|
Left ventricular systolic dysfunction
|
0.010 |
Biomarker
|
disease |
BEFREE |
Max PWD was a useful predictor of AF recurrence and the complete recovery of LVSD after CA.
|
29713820 |
2018 |
|
Clostridium; difficile (disorder)
|
0.010 |
Biomarker
|
disease |
BEFREE |
Of particular interest is ATP7B given its copper modulatory role and the sporicidal properties of copper against Clostridium difficile.
|
29594489 |
2018 |
|
Peripheral Arterial Diseases
|
0.010 |
Biomarker
|
group |
BEFREE |
MATERIAL AND METHODS We recruited 163 patients who underwent peripheral angiography (PA) between August 2011 and March 2017, and they were divided into 2 groups according to the severity of PAD on PA. PWD and QTD were investigated using 12-lead electrocardiograms.
|
30055102 |
2018 |
|
recurrent muscle twitches (symptom)
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
Max PWD, PTFV1, PTdV1, and PTaV1 were significantly greater in non-TIC-group than in TIC-group.
|
29713820 |
2018 |
|
Peripheral artery stenosis
|
0.010 |
Biomarker
|
disease |
BEFREE |
Comparison of ROC curves showed no difference in terms of predicting peripheral artery stenosis of ≥70% between PWD and QTD (p=0.3308).
|
30055102 |
2018 |
|
Hyperalgesia
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
The tested doses of Bacopa monnieri significantly attenuated the CCI-induced allodynia and hyperalgesia, exemplified by increased PWT (days 7-21), PWL to light brushing (days 14-21) and heat (days 7-21) as well as decreased PWD to pin prick and cold stimuli (days 3-21).
|
28583132 |
2017 |