INT84307

Context Info Confidence 0.47 First Reported 1999 Last Reported 2010 Negated 0 Speculated 1 Reported most in Abstract Documents 31 Total Number 36 Disease Relevance 26.19 Pain Relevance 12.80

ATPase activity (Cftr) enzyme binding (Cftr) molecular_function (Cftr) protein complex (Cftr) transmembrane transport (Cftr) cytoplasm (Cftr)

Anatomy Link Frequency monocyte 2 nasal 1 uterine 1 epithelial cells 1 vas deferens 1 Cftr (Rattus norvegicus) Cftr - Q1352H (1)

Pain Link Frequency Relevance Heat fibrosis 280 100.00 Chronic pancreatitis 108 100.00 qutenza 9 99.44 Prostatitis 340 98.44 adenocard 4 97.40 alcohol 7 94.00 Inflammation 168 92.56 cytokine 72 88.12 Inflammatory response 12 86.68 agonist 15 5.00

Disease Link Frequency Relevance Heat Cystic Fibrosis 278 100.00 Pancreatitis 192 100.00 Disease 87 99.96 Asthma 141 99.40 Prostatitis 340 98.44 Bronchitis 1 98.36 Sinusitis 21 97.56 Rhinitis 1 96.96 Bronchiectasis 16 96.36 Aspergillus Infection 19 95.72

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

Further prospective genetic studies on the association of CFTR gene mutations are essential in order to unravel the genetic basis of TCP.

CFTR gene Binding (association) of associated with chronic pancreatitis

1) Confidence 0.47 Published 2009 Journal Indian J Gastroenterol Section Abstract Doc Link 19696993 Disease Relevance 0.85 Pain Relevance 0.56

Despite this limited screening, 37% of them had at least one CFTR mutation, and 11% had two identifiable CFTR mutations; 19% of the patients had the 5T allele in intron 8 of the gene for CFTR, a mutation that permits the formation of a small amount of normal CFTR but causes the vast majority of CFTR transcripts to lack exon 9 and be dysfunctional.

CFTR Binding (majority) of

2) Confidence 0.37 Published 2000 Journal Respir Res Section Body Doc Link PMC59552 Disease Relevance 0.61 Pain Relevance 0.09

When deciding whether the complications of adult CF provide us with insight into CFTR function, the key question to ask is: do these complications suggest previously unrecognized functions for CFTR, or are they due to the long-term absence of already recognized CFTR functions?

CFTR Binding (recognized) of associated with fibrosis

3) Confidence 0.37 Published 2000 Journal Respir Res Section Body Doc Link PMC59552 Disease Relevance 1.68 Pain Relevance 0.47

Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations are associated with cystic fibrosis (CF)-related monosymptomatic conditions, including idiopathic pancreatitis.

CFTR Binding (associated) of associated with fibrosis, pancreatitis and cystic fibrosis

4) Confidence 0.36 Published 2005 Journal Hum. Genet. Section Abstract Doc Link 16193325 Disease Relevance 1.00 Pain Relevance 0.40

Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations are associated with cystic fibrosis (CF)-related monosymptomatic conditions, including idiopathic pancreatitis.

Cystic fibrosis transmembrane conductance regulator Binding (associated) of associated with fibrosis, pancreatitis and cystic fibrosis

5) Confidence 0.36 Published 2005 Journal Hum. Genet. Section Abstract Doc Link 16193325 Disease Relevance 1.00 Pain Relevance 0.40

Current data suggest that the 'chronic complications' reveal mainly the effect of a long-term absence of previously recognized CFTR functions.

CFTR Binding (recognized) of

6) Confidence 0.36 Published 2000 Journal Respir Res Section Abstract Doc Link PMC59552 Disease Relevance 0.60 Pain Relevance 0.25

The number of requests is growing, owing to the increasingly wide range of recognized CFTR gene diseases (cystic fibrosis, congenital bilateral absence of the vas deferens, disseminated bronchiectasis, allergic bronchopulmonary aspergillosis and chronic pancreatitis), and the availability of efficient molecular tools for detecting mutations.

CFTR gene Binding (recognized) of in vas deferens associated with fibrosis, bronchiectasis, cystic fibrosis, aspergillus infection, disease and chronic pancreatitis

7) Confidence 0.35 Published 2000 Journal Hum. Mutat. Section Abstract Doc Link 10649490 Disease Relevance 0.58 Pain Relevance 0.19

Our results demonstrated that the mechanism of acid-induced rapid transepithelial ion fluxes is dependent on the presence of bicarbonate ions as well as functional anion transporters and Na+/H+ exchanger, but independent of cystic fibrosis transmembrane conductance regulator (CFTR).

cystic fibrosis transmembrane conductance regulator Binding (independent) of associated with fibrosis and cystic fibrosis

8) Confidence 0.35 Published 2008 Journal J. Physiol. Pharmacol. Section Abstract Doc Link 18953095 Disease Relevance 0.10 Pain Relevance 0.31

Our results demonstrated that the mechanism of acid-induced rapid transepithelial ion fluxes is dependent on the presence of bicarbonate ions as well as functional anion transporters and Na+/H+ exchanger, but independent of cystic fibrosis transmembrane conductance regulator (CFTR).

CFTR Binding (independent) of associated with fibrosis and cystic fibrosis

9) Confidence 0.35 Published 2008 Journal J. Physiol. Pharmacol. Section Abstract Doc Link 18953095 Disease Relevance 0.10 Pain Relevance 0.31

Although the data initially appeared to suggest that patients with one mutation in CFTR were at risk, subsequent studies have borne out the observation of a link between mutated CFTR on both alleles and ICP.

CFTR Binding (link) of associated with chronic pancreatitis

10) Confidence 0.32 Published 2001 Journal Respir Res Section Body Doc Link PMC64805 Disease Relevance 1.47 Pain Relevance 0.98

Nonetheless, most people with CFTR and PSTI mutations do not develop pancreatitis.

CFTR Binding (people) of associated with pancreatitis

11) Confidence 0.29 Published 2003 Journal Can. J. Gastroenterol. Section Abstract Doc Link 12560856 Disease Relevance 1.02 Pain Relevance 0.16

In fact, our previous studies have demonstrated the involvement of CFTR in mediating uterine and oviductal HCO3?

CFTR Binding (involvement) of in uterine

12) Confidence 0.27 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2998414 Disease Relevance 0.75 Pain Relevance 0.33

Interestingly, recent studies have indicated the possible involvement of defective CFTR-mediated HCO3?

CFTR-mediated Binding (involvement) of

13) Confidence 0.27 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2998414 Disease Relevance 1.20 Pain Relevance 0.51

To further confirm the involvement of CFTR-mediated HCO3?

CFTR-mediated Binding (involvement) of

14) Confidence 0.27 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2998414 Disease Relevance 0.31 Pain Relevance 0.11

While both in vitro and in vivo experiments on rat prostate epithelial cells strongly indicated that the CFTR-mediated HCO3?

CFTR-mediated Binding (indicated) of in epithelial cells

15) Confidence 0.27 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2998414 Disease Relevance 0.47 Pain Relevance 0.19

Here we reported the involvement of CFTR, a cAMP-activated anion channel conducting both Cl?

CFTR Binding (involvement) of

16) Confidence 0.27 Published 2010 Journal PLoS ONE Section Abstract Doc Link PMC2998414 Disease Relevance 0.35 Pain Relevance 0.21

Several authors have reported an association between mutations of the cystic fibrosis transmembrane conductance regulator gene (CFTR) and chronic pancreatitis.

cystic fibrosis transmembrane conductance regulator gene Binding (association) of associated with fibrosis, cystic fibrosis and chronic pancreatitis

17) Confidence 0.26 Published 1999 Journal Clin. Genet. Section Abstract Doc Link 10668931 Disease Relevance 0.34 Pain Relevance 0.29

Several authors have reported an association between mutations of the cystic fibrosis transmembrane conductance regulator gene (CFTR) and chronic pancreatitis.

CFTR Binding (association) of associated with fibrosis, cystic fibrosis and chronic pancreatitis

18) Confidence 0.26 Published 1999 Journal Clin. Genet. Section Abstract Doc Link 10668931 Disease Relevance 0.34 Pain Relevance 0.29

To investigate the association between CFTR genetic variations and asthma, a case-control study was performed using samples from 98 subjects as detailed in Materials and Methods.

CFTR Binding (association) of associated with asthma

19) Confidence 0.25 Published 2010 Journal Yonsei Medical Journal Section Body Doc Link PMC2995957 Disease Relevance 0.94 Pain Relevance 0

However, the association between CFTR mutations and asthma is controversial.

CFTR Binding (association) of associated with asthma

20) Confidence 0.24 Published 2010 Journal Yonsei Medical Journal Section Body Doc Link PMC2995957 Disease Relevance 0.79 Pain Relevance 0.04

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