INT129174

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Context Info
Confidence 0.67
First Reported 2004
Last Reported 2008
Negated 1
Speculated 0
Reported most in Body
Documents 24
Total Number 25
Disease Relevance 14.91
Pain Relevance 0.74

This is a graph with borders and nodes. Maybe there is an Imagemap used so the nodes may be linking to some Pages.

plasma membrane (PKD1) nucleus (PKD1) cilium (PKD1)
cytoplasm (PKD1)
Anatomy Link Frequency
HPAC 2
CFPAC-1 2
AsPC-1 2
BxPC-3 2
hepatocytes 1
PKD1 (Homo sapiens)
Pain Link Frequency Relevance Heat
Mechanosensation 8 98.44 Very High Very High Very High
antagonist 41 90.92 High High
Bile 10 86.48 High High
TRP channel 31 82.48 Quite High
Mechanotransduction 5 65.88 Quite High
Inflammation 25 60.00 Quite High
Chronic pancreatitis 1 58.24 Quite High
qutenza 48 51.84 Quite High
Cannabinoid receptor 4 49.84 Quite Low
Pain 19 45.20 Quite Low
Disease Link Frequency Relevance Heat
Pancreatic Cancer 445 100.00 Very High Very High Very High
Disease 253 100.00 Very High Very High Very High
Autosomal Dominant Polycystic Kidney 121 99.16 Very High Very High Very High
Adhesions 44 98.44 Very High Very High Very High
Cancer 360 97.56 Very High Very High Very High
Cerebral Aneurysm 20 97.12 Very High Very High Very High
Renal Failure 6 95.08 Very High Very High Very High
Stress 18 94.72 High High
Cyst 108 94.60 High High
Polycystic Kidney Disease 223 94.36 High High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Screening of PKD1 mutation by MRF-SSCP
Gene_expression (mutation) of PKD1
1) Confidence 0.67 Published 2004 Journal BMC Med Genet Section Body Doc Link PMC356914 Disease Relevance 0.11 Pain Relevance 0
In addition, screening in our control set of 112 normal chromosomes did not show the L3287del in PKD1.
Neg (not) Gene_expression (show) of PKD1
2) Confidence 0.67 Published 2004 Journal BMC Med Genet Section Body Doc Link PMC356914 Disease Relevance 0.47 Pain Relevance 0
The result showed that only the proband carried this novel deletion; none of other six family members including the patient's mother had the mutation; thus, it is likely to be a de novo PKD1 mutation (Figure 2C).


Gene_expression (mutation) of PKD1
3) Confidence 0.67 Published 2004 Journal BMC Med Genet Section Body Doc Link PMC356914 Disease Relevance 0.26 Pain Relevance 0
Two known genes are responsible for this disease: PKD1 (MIM# 601313) at 16p13.3 [3-6] and PKD2 (MIM# 173910) at 4q21-23 [7].
Gene_expression (responsible) of PKD1 associated with disease
4) Confidence 0.67 Published 2004 Journal BMC Med Genet Section Body Doc Link PMC356914 Disease Relevance 0.98 Pain Relevance 0
Although PTT method can screen for a relatively large cDNA fragments (~2 kb) and the detected alterations are almost all pathogenic mutations, its major disadvantage is that missense mutations, which are a significant source of PKD1 mutation [27] or small in-frame changes are not detected.
Gene_expression (source) of PKD1
5) Confidence 0.60 Published 2004 Journal BMC Med Genet Section Body Doc Link PMC356914 Disease Relevance 0 Pain Relevance 0
Germino et al[9] were the first to suggest a relationship between p21 and PKD by showing that p21 is induced by the product of the Pkd1 gene, polycystin-1.
Gene_expression (product) of Pkd1
6) Confidence 0.47 Published 2007 Journal BMC Nephrol Section Body Doc Link PMC2045080 Disease Relevance 0.85 Pain Relevance 0
Polycystin-1 (PC-1), polycystin-2 (PC-2) and other cystoproteins (not shown) are expressed in primary cilia, basal bodies or centrosomes.
Gene_expression (expressed) of PC-1 in cilia
7) Confidence 0.44 Published 2007 Journal Cell Mol Life Sci Section Body Doc Link PMC2775119 Disease Relevance 0.27 Pain Relevance 0.13
In normal epithelial cells, PC-1 is found in a complex with talin (TAL), paxillin (PAX), vinculin (VINC), focal adhesion kinase (FAK), c-src (SRC), p130-cas (CAS), nephrocystin (NPH1) and tensin (TEN).
Gene_expression (found) of PC-1 in epithelial cells associated with adhesions
8) Confidence 0.38 Published 2007 Journal Cell Mol Life Sci Section Body Doc Link PMC2775119 Disease Relevance 0.89 Pain Relevance 0
In humans, the hPKD1 gene is expressed in many tissues in addition to kidneys and encodes a glycoprotein of 4,303 amino acids, also called hPKD1, or polycystin-1 (hPC1), much of which is extracellular and has the characteristics of a lectin-like, signal transduction molecule [12,13].
Gene_expression (expressed) of polycystin-1
9) Confidence 0.28 Published 2007 Journal BMC Genomics Section Body Doc Link PMC1934368 Disease Relevance 0.62 Pain Relevance 0
TRPP1 and TRPP2 were originally identified during the study of autosomal dominant polycystic kidney disease, an inherited disorder which is the most common cause of renal failure in humans.
Gene_expression (identified) of TRPP1 in kidney associated with renal failure, autosomal dominant polycystic kidney and disease
10) Confidence 0.26 Published 2008 Journal Current Neuropharmacology Section Body Doc Link PMC2645550 Disease Relevance 0.59 Pain Relevance 0.05
In humans, the hPKD1 gene is expressed in many tissues in addition to kidneys and encodes a glycoprotein of 4,303 amino acids, also called hPKD1, or polycystin-1 (hPC1), much of which is extracellular and has the characteristics of a lectin-like, signal transduction molecule [12,13].
Gene_expression (expressed) of hPKD1
11) Confidence 0.24 Published 2007 Journal BMC Genomics Section Body Doc Link PMC1934368 Disease Relevance 0.55 Pain Relevance 0
In humans, the hPKD1 gene is expressed in many tissues in addition to kidneys and encodes a glycoprotein of 4,303 amino acids, also called hPKD1, or polycystin-1 (hPC1), much of which is extracellular and has the characteristics of a lectin-like, signal transduction molecule [12,13].
Gene_expression (expressed) of hPKD1
12) Confidence 0.24 Published 2007 Journal BMC Genomics Section Body Doc Link PMC1934368 Disease Relevance 0.61 Pain Relevance 0
A possible explanation for this severe phenotype is a functional link between the TSC2 protein and polycystin-1 in protein sorting as described by Kleymenova et al. [57].
Gene_expression (protein) of polycystin-1
13) Confidence 0.13 Published 2008 Journal Current Genomics Section Body Doc Link PMC2691673 Disease Relevance 0.56 Pain Relevance 0
The mammalian TRP (transient receptor potential) family consists of six main subfamilies termed the TRPC (canonical), TRPV (vanilloid), TRPM (melastatin), TRPP (polycystin), TRPML (mucolipin), and TRPA (ankyrin) groups.
Gene_expression (groups) of TRPP
14) Confidence 0.11 Published 2005 Journal Sci. STKE Section Abstract Doc Link 16077087 Disease Relevance 0.48 Pain Relevance 0.15
Of the nucleotide pyrophosphatase/phosphodiesterases, NPP1 (PC-1) is expressed on the basolateral membrane of hepatocytes while the closely related NPP3 (B10) has a predominant canalicular in distribution [172, 173].
Gene_expression (expressed) of PC-1 in hepatocytes
15) Confidence 0.02 Published 2006 Journal Purinergic Signal Section Body Doc Link PMC2254478 Disease Relevance 0.06 Pain Relevance 0.27
The transient receptor potential (TRP) channels are a large family of proteins with six main subfamilies termed the TRPC (canonical), TRPV (vanilloid), TRPM (melastatin), TRPP (polycystin), TRPML (mucolipin), and TRPA (ankyrin) groups.
Gene_expression (groups) of TRPP
16) Confidence 0.02 Published 2007 Journal Subcell. Biochem. Section Abstract Doc Link 18193640 Disease Relevance 0.21 Pain Relevance 0.09
Four pancreatic cancer cell lines, Hs766T, AsPC-1, KP-2 and KP-3, expressed higher levels of LMO4 than did any of the primary cultures of pancreatic fibroblasts.
Gene_expression (expressed) of AsPC-1 in fibroblasts associated with pancreatic cancer
17) Confidence 0.01 Published 2008 Journal Mol Cancer Section Body Doc Link PMC2628350 Disease Relevance 0.92 Pain Relevance 0.06
AsPC-1, BxPC-3, CFPAC-1, HPAC, MIAPaCa-2, and PANC-1 cells were obtained from the American Type Culture Collection (Rockville, MD), and were maintained in the medium recommended by the ATCC at 37°C in a humidified atmosphere of 5% CO2.
Gene_expression (maintained) of AsPC-1 in CFPAC-1
18) Confidence 0.01 Published 2008 Journal J Exp Clin Cancer Res Section Body Doc Link PMC2529268 Disease Relevance 0.96 Pain Relevance 0
We examined midkine mRNA expression and midkine protein expression by seven human pancreatic cancer cell lines (AsPC-1, BxPC-3, CFPAC-1, HPAC, MIAPaCa-2, PANC-1, and Suit-2), as well as by non-cancerous pancreatic tissue and pancreatic cancers.
Gene_expression (expression) of AsPC-1 in HPAC associated with pancreatic cancer
19) Confidence 0.01 Published 2008 Journal J Exp Clin Cancer Res Section Abstract Doc Link PMC2529268 Disease Relevance 0.66 Pain Relevance 0
AsPC-1, BxPC-3, CFPAC-1, HPAC, MIAPaCa-2, and PANC-1 cells were obtained from the American Type Culture Collection (Rockville, MD), and were maintained in the medium recommended by the ATCC at 37°C in a humidified atmosphere of 5% CO2.
Gene_expression (maintained) of AsPC-1 in AsPC-1
20) Confidence 0.00 Published 2008 Journal J Exp Clin Cancer Res Section Body Doc Link PMC2529268 Disease Relevance 0.96 Pain Relevance 0

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