|
Developmental Disabilities
|
0.010 |
Biomarker
|
group |
BEFREE |
We show that complete DOCK3 deficiency in humans leads to developmental disability with significant hypotonia and gait ataxia, probably due to abnormal axonal development.
|
28195318 |
2017 |
|
Malignant neoplasm of breast
|
0.010 |
Biomarker
|
disease |
BEFREE |
We found PBP gene amplification in approximately 24% (6/25) of breast tumors and approximately 30% (2/6) of breast cancer cell lines, implying that PBP gene overexpression can occur independent of gene amplification.
|
10485914 |
1999 |
|
Breast Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
We found PBP gene amplification in approximately 24% (6/25) of breast tumors and approximately 30% (2/6) of breast cancer cell lines, implying that PBP gene overexpression can occur independent of gene amplification.
|
10485914 |
1999 |
|
Mammary Neoplasms
|
0.010 |
Biomarker
|
group |
BEFREE |
We found PBP gene amplification in approximately 24% (6/25) of breast tumors and approximately 30% (2/6) of breast cancer cell lines, implying that PBP gene overexpression can occur independent of gene amplification.
|
10485914 |
1999 |
|
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Variants in DOCK3 cause developmental delay and hypotonia.
|
30976111 |
2019 |
|
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Variants in DOCK3 cause developmental delay and hypotonia.
|
30976111 |
2019 |
|
Movement Disorders
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
UniProt: a hub for protein information.
|
25348405 |
2015 |
|
Muscle hypotonia
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
UniProt: a hub for protein information.
|
25348405 |
2015 |
|
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
UniProt: a hub for protein information.
|
25348405 |
2015 |
|
Movement Disorders
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
TrkB has a cell-autonomous role in the establishment of hippocampal Schaffer collateral synapses.
|
15829629 |
2005 |
|
Muscle hypotonia
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
TrkB has a cell-autonomous role in the establishment of hippocampal Schaffer collateral synapses.
|
15829629 |
2005 |
|
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
TrkB has a cell-autonomous role in the establishment of hippocampal Schaffer collateral synapses.
|
15829629 |
2005 |
|
Varicosity
|
0.010 |
Biomarker
|
disease |
BEFREE |
To analyze the cost-effectiveness of current technologies (conservative care [CONS], high-ligation surgery [HL/S], ultrasound-guided foam sclerotherapy [UGFS], endovenous laser ablation [EVLA], and radiofrequency ablation [RFA]) and emerging technologies (mechanochemical ablation [MOCA] and cyanoacrylate glue occlusion [CAE]) for treatment of varicose veins over 5 years.
|
30098668 |
2018 |
|
Glaucomatous retinal degeneration
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
These results suggest that Dock3 overexpression prevents glaucomatous retinal degeneration by suppressing both NR2B-mediated glutamate neurotoxicity and oxidative stress, and identifies Dock3 signaling as a potential therapeutic target for both neuroprotection and axonal regeneration.
|
23852370 |
2013 |
|
Carcinogenesis
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
These observations, in particular PBP gene amplification, suggest that PBP, by its ability to function as ERalpha coactivator, might play a role in mammary epithelial differentiation and in breast carcinogenesis.
|
10485914 |
1999 |
|
Protanomaly
|
0.010 |
Biomarker
|
disease |
BEFREE |
There was no difference in the hospital stay and time to disease control between the PBP and cBP patients.
|
28256743 |
2017 |
|
Alzheimer's Disease
|
0.010 |
Biomarker
|
disease |
BEFREE |
The results showed that: (1) the statistically significant connections of interhemispheric brain regions included DMN-related brain regions (i.e. precuneus, calcarine, fusiform, cuneus, lingual gyrus, temporal inferior gyrus, and hippocampus), SN-related brain regions (i.e. frontoinsular cortex), and ECN-related brain regions (i.e. frontal middle gyrus and frontal inferior); (2) the precuneus and frontal middle gyrus in the AD group exhibited lower VMHC values than those in the aMCI and healthy control (HC) groups, but no significant difference was observed between the aMCI and HC groups; and (3) significant correlations were found between peak VMHC results from the precuneus and Mini Mental State Examination (MMSE) and Montreal Cognitive Scale (MOCA) scores and their factor scores in the AD, aMCI, and AD plus aMCI groups, and between the results from the frontal middle gyrus and MOCA factor scores in the aMCI group.
|
30507076 |
2019 |
|
MRSA - Methicillin resistant Staphylococcus aureus infection
|
0.060 |
Biomarker
|
disease |
BEFREE |
The Quinazolinone Allosteric Inhibitor of PBP 2a Synergizes with Piperacillin and Tazobactam against Methicillin-Resistant Staphylococcus aureus.
|
30858202 |
2019 |
|
MRSA - Methicillin resistant Staphylococcus aureus infection
|
0.060 |
Biomarker
|
disease |
BEFREE |
The present study compared the MRSA-Screen latex agglutination test (Denka Seiken Co., Ltd., Tokyo, Japan) for detection of PBP 2a with agar dilution, the VITEK-1 and VITEK-2 systems (bioMérieux, St. Louis, Mo.), and the oxacillin agar screen test for detection of MRSA, with PCR for the mecA gene used as the "gold standard" assay.
|
11682512 |
2001 |
|
Influenza
|
0.050 |
Biomarker
|
disease |
BEFREE |
The penicillin binding protein (PBP) genes dacA, dacB and ftsI from 14 cefuroxime-resistant (CXM(R)) isolates and three clinical isolates with low CXM MIC for non-beta-lactamase-producing Haemophilus influenzae type b were molecularly characterized.
|
12615852 |
2003 |
|
Parkinson Disease
|
0.010 |
Biomarker
|
disease |
BEFREE |
The objective of the current study was to assess mRNA expressional changes of AQP4, TH and PBP in blood samples of control and patients with PD.
|
22083667 |
2012 |
|
Bullous pemphigoid
|
0.010 |
Biomarker
|
disease |
BEFREE |
The clinical and histopathological characteristics, treatment and outcomes of patients who initially presented with non-bullous lesions (prodromal BP, PBP) were analyzed and compared with those from patients who initially presented with bullous lesions (classical BP, cBP).
|
28256743 |
2017 |
|
Eosinophil count procedure
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
|
Blood basophil count (lab test)
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
|
Immunoglobulin G4-Related Disease
|
0.010 |
Biomarker
|
disease |
BEFREE |
Th1 and Th2 cytokine response and immunological B-cell memory to H. pylori PBP did not differ between IgG4-RD and DC.
|
28412148 |
2018 |