|
Ulcerative Colitis
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
In the pediatric cohort the associations of TNFSF15, NKX2-3 with CD, and PTGER4, NKX2-3, ZNF365, IFNG, PSMG1 with UC, were confirmed.
|
21818367 |
2011 |
|
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Characterizing rare and low-frequency height-associated variants in the Japanese population.
|
31562340 |
2019 |
|
Neoplasms
|
0.040 |
GeneticVariation
|
group |
BEFREE |
Based on these findings a decrease or lack of the PAC1 receptor/PACAP signalling might have an influence on tumour growth and/or differentiation.
|
31788045 |
2019 |
|
Schizophrenia
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
In addition, an association between SNPs of the PACAP or PAC1 genes and schizophrenia has been reported.
|
19958095 |
2009 |
|
Schizophrenia
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
Here, we provide evidence that genetic variants of the genes encoding PACAP and its receptor, PAC1, are associated with schizophrenia.
|
17387318 |
2007 |
|
Sudden infant death syndrome
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
Overall, this study does not support a strong association between variants in the PAC1 gene and SIDS; however, a number of potential associations between race-specific variants and SIDS were identified that warrant targeted investigations in future studies.
|
23981011 |
2013 |
|
Neuroblastoma
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
PAC1 receptor splice variants missing a 21 amino acid sequence in the amino terminal domain were found to be the major receptor variants in the neuroblastoma cell lines and also were highly expressed in embryonic brain compared to adult brain.
|
16226889 |
2006 |
|
Central neuroblastoma
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
PAC1 receptor splice variants missing a 21 amino acid sequence in the amino terminal domain were found to be the major receptor variants in the neuroblastoma cell lines and also were highly expressed in embryonic brain compared to adult brain.
|
16226889 |
2006 |
|
Childhood Neuroblastoma
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
PAC1 receptor splice variants missing a 21 amino acid sequence in the amino terminal domain were found to be the major receptor variants in the neuroblastoma cell lines and also were highly expressed in embryonic brain compared to adult brain.
|
16226889 |
2006 |
|
Crohn Disease
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Colon-only CD (n = 228) was compared with healthy controls: three of six UC SNPs (in MST1, HLA-DRA, and IL-23R) and 11 of 34 CD SNPs: in IRGM, NOD2 (rs2066845), CCNY, MST1, IL23R, PTPN22, C11orf30, ZNF365, PTPN2, PSMG1, and rs1456893 were significantly associated.
|
21830272 |
2011 |
|
Congenital Hydrocephalus
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Two important players are the subcommissural organ/Reissner's fiber (SCO/RF) complex and the ventricular ependymal (vel) cells that together facilitate the flow of the CSF through the narrow canals of the ventricular system.In this issue of the JCI, Lang et al. demonstrate that overexpression of the pituitary adenylate cyclase-activating polypeptide (PACAP) type I (PAC1) receptor gene results in abnormal development of the SCO and vel cells, leading to congenital hydrocephalus (see the related article beginning on page 1924).
|
16823482 |
2006 |
|
Ankylosing spondylitis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The findings was consistent with previous genetic and functional studies that point at variants of the BRWD1 and/or PSMG1 loci as interesting genetic factors contributing to AS.
|
24643394 |
2014 |
|
Leukemia, Large Granular Lymphocytic
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
By screening a LGL leukemia cDNA library using the 3' end of a PAC-1 probe, we obtained a clone (clone 8) which retains one and one half introns, excludes two exons, and matches one hundred percent with a DNA sequence on chromosome 2.
|
14680939 |
2003 |
|
Ulcerative Colitis
|
0.310 |
Biomarker
|
disease |
CTD_human |
Genome-wide association identifies multiple ulcerative colitis susceptibility loci.
|
20228799 |
2010 |
|
Migraine Disorders
|
0.050 |
Biomarker
|
group |
BEFREE |
Our results demonstrate that the repetitive electrical stimulation model can simulate the allodynia during the migraine chronification, and PACAP plays a role in the pathogenesis of migraine potentially via PAC1 receptor.
|
30799680 |
2019 |
|
Migraine Disorders
|
0.050 |
Biomarker
|
group |
BEFREE |
The selective increase in pituitary adenylate cyclase-activating polypeptide-related receptors suggests that the PAC1 receptor pathway is a novel target for the treatment of migraine.
|
28776455 |
2018 |
|
Migraine Disorders
|
0.050 |
Biomarker
|
group |
BEFREE |
We pharmacologically characterized pituitary adenylate cyclase-activating polypeptides (PACAPs), vasoactive intestinal peptide (VIP) and the VPAC(1), VPAC(2) and PAC(1) receptors in human meningeal (for their role in migraine) and coronary (for potential side effects) arteries.
|
20974589 |
2011 |
|
Migraine Disorders
|
0.050 |
Biomarker
|
group |
BEFREE |
In the present review we summarize the protective effects of PACAP in ischemia, especially in neuronal ischemic injuries, and discuss possible points to consider when developing strategies in migraine therapy interfering with the PACAP/PAC1 receptor system.
|
29500688 |
2018 |
|
Malignant Neoplasms
|
0.040 |
Biomarker
|
group |
BEFREE |
Pac 1 binds to PI4K2A and disrupts the PKR/PI4K2A-associated lysosome complex, contributing to destabilization of cancer cell lysosomes and triggering cell death.
|
31554935 |
2020 |
|
Malignant Neoplasms
|
0.040 |
Biomarker
|
group |
BEFREE |
A weaker immunostaining of PAC1 receptors in normal tissue and a strong density of the three PACAP/VIP receptor subclasses in cancer tissue may be related to differential expression patterns during breast tumor progression but more samples need to be studied to validate this hypothesis.
|
16019382 |
2005 |
|
Neoplasms
|
0.040 |
Biomarker
|
group |
BEFREE |
When given to mice bearing subcutaneous or orthotopic xenograft, PAC-1 and WF-210 inhibited the tumor growth and tumor angiogenesis.
|
29269017 |
2018 |
|
Schizophrenia
|
0.040 |
Biomarker
|
disease |
BEFREE |
The neuroprotective effect via PAC-1 activation suggests a potentially novel pharmacological target for the treatment of schizophrenia, via neurogenesis normalization.
|
28125634 |
2017 |
|
Schizophrenia
|
0.040 |
Biomarker
|
disease |
BEFREE |
Mice lacking the gene encoding pituitary adenylate cyclase-activating polypeptide (PACAP) or its specific receptor, PAC1, show abnormal behaviors related to schizophrenia.
|
27383213 |
2016 |
|
Sudden infant death syndrome
|
0.040 |
Biomarker
|
disease |
BEFREE |
SIDS compared to non-SIDS had higher PACAP in the MBDR (p<0.05) and lower PAC1 in the medulla arcuate nucleus (p<0.001).
|
28392470 |
2017 |
|
Sudden infant death syndrome
|
0.040 |
Biomarker
|
disease |
BEFREE |
These findings suggest that PAC1 plays the principal role in mediating the cardiorespiratory effects of PACAP in response to hypoxic stress during neonatal development and that defective PACAP signaling via PAC1 may contribute to the pathogenesis of SIDS.
|
30758978 |
2019 |