|
Neural Tube Defects
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In vertebrate embryos undergoing convergent extension (CE), the Planar Cell Polarity (PCP) pathway drives the elongation of the body axis and shapes the central nervous system, and mutations of the PCP genes predispose humans to various malformations including neural tube defects.
|
30579764 |
2019 |
|
Neural Tube Defects
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Knockout mice that are heterozygotes of single PCP genes likely fail to produce NTD phenotypes, yet damaging variants detected in human NTDs are almost always heterozygous, suggesting that other deleterious interacting variants are likely to be present.
|
29618362 |
2018 |
|
Neural Tube Defects
|
0.100 |
Biomarker
|
group |
BEFREE |
The Looptail (Lp) mutant mouse was the first mammalian mutant implicating a PCP gene (Vangl2) in the pathogenesis of NTD.
|
29063958 |
2018 |
|
Adolescent idiopathic scoliosis
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
|
30019117 |
2018 |
|
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
|
30019117 |
2018 |
|
Blood Protein Measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genomic atlas of the human plasma proteome.
|
29875488 |
2018 |
|
Blood Protein Measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Co-regulatory networks of human serum proteins link genetics to disease.
|
30072576 |
2018 |
|
Neural Tube Defects
|
0.100 |
Biomarker
|
group |
BEFREE |
Moreover, the Wnt/PCP-Jnk-dependent pathway plays an important role in taurine-mediated prevention of NTDs.
|
28718066 |
2017 |
|
Neural Tube Defects
|
0.100 |
GeneticVariation
|
group |
BEFREE |
These results demonstrate that PCP gene alterations contribute to the etiology of human NTDs.
|
24307374 |
2014 |
|
Neural Tube Defects
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Additionally, glypicans function in the planar cell polarity (PCP) pathway, and several PCP genes have been associated with NTDs.
|
23223018 |
2013 |
|
Neural Tube Defects
|
0.100 |
Biomarker
|
group |
BEFREE |
Here, we summarize our current understanding of how PCP factors affect the pathogenesis of NTDs.
|
21864354 |
2011 |
|
Neural Tube Defects
|
0.100 |
Biomarker
|
group |
BEFREE |
Our study demonstrates that PRICKLE1 could act as a predisposing factor to human NTDs and further expands our knowledge of the role of PCP genes in the pathogenesis of these malformations.
|
21901791 |
2011 |
|
Neural Tube Defects
|
0.100 |
Biomarker
|
group |
BEFREE |
Homozygous disruption of PCP genes in mice results in a spectrum of NTDs, including defects that affect the entire neural axis (craniorachischisis), cranial NTDs (exencephaly) and spina bifida.
|
21840926 |
2011 |
|
Narcolepsy
|
0.100 |
GeneticVariation
|
disease |
GWASDB |
Genome-wide association database developed in the Japanese Integrated Database Project.
|
19629137 |
2009 |
|
Neural Tube Defects
|
0.100 |
Biomarker
|
group |
BEFREE |
We suggest that other PCP genes should be considered as candidates for a role in the etiology of human NTDs.
|
19129707 |
2009 |
|
Pneumocystis jiroveci pneumonia
|
0.090 |
Biomarker
|
disease |
BEFREE |
Several decades ago, the presence of Pneumocystis morphotypes (trophic forms and cysts) was described in the lungs of normal cats and cats with experimentally induced symptomatic PCP (after immunosuppression by corticosteroids); yet to date spontaneous or drug-induced PCP has not been described in the clinical feline literature, despite immunosuppression of cats by long-standing retrovirus infections or after kidney transplantation.
|
30566653 |
2019 |
|
Pneumocystis jiroveci pneumonia
|
0.090 |
Biomarker
|
disease |
BEFREE |
Our data suggest that core Frizzled/PCP factors, acting through RhoA and Rho kinase, regulate the function/activity of integrins and that integrins thus contribute to the complex interaction network of PCP signalling, cell adhesion and cytoskeletal elements required for a precise and synchronous 90° rotation movement.
|
31409231 |
2019 |
|
Pneumocystis jiroveci pneumonia
|
0.090 |
Biomarker
|
disease |
BEFREE |
A 10-year-old girl was referred to our hospital for the treatment of Pneumocystis Jirovecii Pneumonia (PCP: Pneumocystis pneumonia).
|
29138020 |
2018 |
|
Pneumocystis jiroveci pneumonia
|
0.090 |
Biomarker
|
disease |
BEFREE |
Expression of noncanonical Wnt-related genes was evaluated in 91 ACTs (66 children and 25 adults) by qPCR and the expression of beta-catenin, P53 and protein effectors of Wnt/Ca (NFAT) and Wnt/PCP (JNK) by immunohistochemistry.TP53 and CTNNB1 genes were sequenced.
|
24717047 |
2014 |
|
Pneumocystis jiroveci pneumonia
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
The identification of P. jirovecii internal transcribed spacer (ITS) types was performed on P. jirovecii isolates from the 18 RTRs (12 patients with Pneumocystis pneumonia [PCP], 6 colonized patients), 22 unlinked control patients (18 patients with PCP, 4 colonized patients), and 69 patients (34 patients with PCP, 35 colonized patients) with contemporaneously diagnosed P. jirovecii infections in the Brest geographic area.A transmission map was drawn up.
|
22337822 |
2012 |
|
Pneumocystis jiroveci pneumonia
|
0.090 |
Biomarker
|
disease |
BEFREE |
The planar cell polarity (PCP) signaling pathway governs collective cell movements during vertebrate embryogenesis, and certain PCP proteins are also implicated in the assembly of cilia.
|
20671153 |
2010 |
|
Pneumocystis jiroveci pneumonia
|
0.090 |
Biomarker
|
disease |
BEFREE |
Pneumocystis pneumonia or PCP is caused by Pneumocystis jirovecii, an obligate parasite of the human lung.
|
15531210 |
2004 |
|
Pneumocystis jiroveci pneumonia
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
We analyzed the genetic variation among isolates of Pneumocystis jiroveci from Portuguese immunocompromised patients with PCP at the internal transcribed spacer (ITS) regions of the nuclear rRNA operon and at the dihydropteroate synthase (DHPS) gene.
|
14636689 |
2003 |
|
Pneumocystis jiroveci pneumonia
|
0.090 |
Biomarker
|
disease |
BEFREE |
Using this method, the viability of P.c. hominis in bronchoalveolar lavage fluids from patients developing PCP and in the environment of PCP patients was established.
|
11906051 |
2001 |
|
Schizophrenia
|
0.060 |
Biomarker
|
disease |
BEFREE |
Synaptic biomarker reduction and impaired cognition in the sub-chronic PCP mouse model for schizophrenia.
|
31580184 |
2020 |