|
Autosomal Recessive Osteopetrosis
|
0.030 |
Biomarker
|
disease |
BEFREE |
Mutations in the CLCN7 gene result in autosomal dominant osteopetrosis type II (ADO‑II), autosomal recessive osteopetrosis (ARO) and intermediate ARO (IARO).
|
30942407 |
2019 |
|
Autosomal Recessive Osteopetrosis
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the chloride channel 7 gene (CLCN7) lead to chloride channel defect, which results in autosomal dominant osteopetrosis type II (ADO-II), autosomal recessive osteopetrosis (ARO), and intermediate autosomal recessive osteopetrosis (IARO).
|
26395888 |
2016 |
|
Autosomal Recessive Osteopetrosis
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
We present the first Chinese IARO patient with a novel homozygous variant in CLCN7 gene (p. Pro470Leu) and an ADO II patient with a heterozygous variant in CLCN7 gene (p. Arg286Trp).
|
21962762 |
2012 |
|
Dyspnea
|
0.020 |
GeneticVariation
|
phenotype |
BEFREE |
The ability to predict mortality was compared in terms of discrimination by Harrell's C (HC) index and calibration using graphical comparison among the GOLD (Global Initiative for Chronic Obstructive Lung Disease) 2011, GOLD 2017, GOLD grade, BODE (BMI, Airflow Obstruction, Dyspnea, Exercise), updated BODE, BODEx (BMI, Airflow Obstruction, Dyspnea, Exacerbation), e-BODE (Exacerbation and BODE), ADO (Age, Dyspnea, Airflow Obstruction), COPD prognostic index (CPI), and simplified/optimized B-AE-D (BMI, Acute Exacerbation, Dyspnea) indexes.
|
31665736 |
2019 |
|
Immunosuppression
|
0.020 |
Biomarker
|
disease |
BEFREE |
Moreover, the expression of the enzyme responsible for the degradation of ADO, adenosine deaminase, was higher in tolerant patients with respect to the nontolerant group along the immunosuppression withdrawal.
|
30019408 |
2019 |
|
Neoplasms
|
0.020 |
Biomarker
|
group |
BEFREE |
Our screens also identified that the metabolic protein 2-aminoethanethiol dioxygenase (Ado) modulates sensitivity to TNF-mediated killing by cytotoxic lymphocytes and is required for optimal control of tumors in vivo.
|
29776993 |
2018 |
|
Dyspnea
|
0.020 |
Biomarker
|
phenotype |
BEFREE |
Five clusters were identified based on three PCA components, which accounted for 60% of variance of the data.Importantly, couch potatoes (i.e. the most inactive cluster) were characterised by higher BMI, lower FEV<sub>1</sub>, worse dyspnoea and higher ADO index compared to other clusters ( p < 0.05 for all).
|
28774199 |
2017 |
|
Bone Diseases
|
0.020 |
GeneticVariation
|
group |
BEFREE |
Autosomal dominant osteopetrosis type II (ADO-II) is a heritable bone disorder characterized by osteosclerosis, predominantly involving the spine (vertebral end-plate thickening, or rugger-jersey spine), the pelvis ("bone-within-bone" structures) and the skull base.
|
26056022 |
2016 |
|
Uveomeningoencephalitic Syndrome
|
0.020 |
Biomarker
|
disease |
BEFREE |
In addition, we also successfully replicated the association of VKH syndrome with ADO-ZNF365-EGR2 in a Thai population.
|
26628628 |
2016 |
|
Bone Diseases
|
0.020 |
GeneticVariation
|
group |
BEFREE |
Autosomal dominant osteopetrosis type II (ADO II) is a rare, heritable bone disorder characterized by a high bone mass and insufficient osteoclast activity.
|
24336069 |
2014 |
|
Uveomeningoencephalitic Syndrome
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
We identified three loci associated with VKH syndrome susceptibility (IL23R-C1orf141, rs117633859, P(combined) = 3.42 × 10(-21), odds ratio (OR) = 1.82; ADO-ZNF365-EGR2, rs442309, P(combined) = 2.97 × 10(-11), OR = 1.37; and HLA-DRB1/DQA1, rs3021304, P(combined) = 1.26 × 10(-118), OR = 2.97).
|
25108386 |
2014 |
|
Neoplasms
|
0.020 |
Biomarker
|
group |
BEFREE |
The objective of the study was to study the antiproliferative effects of 8-Cl-ADO on growth and proliferation in B-lymphocytes of Carney complex patients that have PKA defects and to determine whether 8-CL-ADO could be used as a therapeutic agent in the treatment of Carney complex-associated tumors.
|
19773399 |
2009 |
|
Immunosuppression
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
However, the basis for immunosuppression by Ado has not been well defined, and effects of 2'-deoxyadenosine (dAdo), which does not activate Ado receptors, have also been implicated in causing SCID.
|
15580654 |
2005 |
|
Heart failure
|
0.010 |
Biomarker
|
disease |
BEFREE |
Here, we investigated the role of A1R signaling at physiologically relevant ADO concentrations on HF SAN pacemaker cells.
|
31751583 |
2020 |
|
Congestive heart failure
|
0.010 |
Biomarker
|
disease |
BEFREE |
Here, we investigated the role of A1R signaling at physiologically relevant ADO concentrations on HF SAN pacemaker cells.
|
31751583 |
2020 |
|
Uveitis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Genome-wide association study (GWAS) provided a powerful tool for genome-wide level analysis to explore the genetic predisposition for uveitis and revealed several genes to be associated with uveitis including IL23R/C1orf141, STAT4 and ADO/ZNF365/EGR2.
|
31669406 |
2020 |
|
Malignant tumor of cervix
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
The present study analyzed the participation of Ado, generated through the functional activity of the cervical cancer (CeCa) pathway in CeCa cells, to induce the expression and secretion of TGF-β1, as well as the participation of this factor to maintain CD73 expression.
|
30301599 |
2019 |
|
Seizures
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
All A1AR agonists were efficacious in preventing seizure and promoting survival.
|
31069755 |
2019 |
|
Malnutrition
|
0.010 |
Biomarker
|
disease |
BEFREE |
ADO and RFA could be excellent sources of protein and bioavailable Fe, making it a sustainable, low-cost food source to prevent malnutrition in humans.
|
31623146 |
2019 |
|
Cervix carcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
The present study analyzed the participation of Ado, generated through the functional activity of the cervical cancer (CeCa) pathway in CeCa cells, to induce the expression and secretion of TGF-β1, as well as the participation of this factor to maintain CD73 expression.
|
30301599 |
2019 |
|
cervical cancer
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
The present study analyzed the participation of Ado, generated through the functional activity of the cervical cancer (CeCa) pathway in CeCa cells, to induce the expression and secretion of TGF-β1, as well as the participation of this factor to maintain CD73 expression.
|
30301599 |
2019 |
|
Behcet Syndrome
|
0.010 |
Biomarker
|
disease |
BEFREE |
Our findings confirmed the association of four loci (<i>LACC1</i>, <i>CEBPB-PTPN1</i>, <i>ADO-EGR2</i> and <i>RIPK2</i>) in Chinese Han patients with BD.
|
29907633 |
2018 |
|
Malignant Neoplasms
|
0.010 |
Biomarker
|
group |
BEFREE |
In this study, we have predicted a 3D model structure for ADO and summarized the biological roles and the pathological consequences which are associated with the altered expression and functioning of ADO and CDO in case of cancer, neurodegenerative disorders and other human diseases.
|
28439920 |
2017 |
|
Fenestration (morphologic abnormality)
|
0.010 |
Biomarker
|
disease |
BEFREE |
Patients in whom fenestration closure was performed with an ADO II and who had at least 6 months of follow-up were included in this study.
|
28261286 |
2017 |
|
Atrial Septal Defects
|
0.010 |
Biomarker
|
group |
BEFREE |
Among the 114 patients submitted to ADO II-AS implantation at our institution, 12 received this device as off-label treatment of paravalvular leak (n = 5), sinus of Valsalva fissuration (n = 2), accessory atrial septal defect (n = 2), muscular ventricular septal defect (n = 1), bleeding bronchial artery aneurysm (n = 1) and reverse shunt due to abnormal origin of left subclavian artery from pulmonary artery (n = 1).
|
27898501 |
2017 |