INT169756

Context Info Confidence 0.35 First Reported 2003 Last Reported 2011 Negated 0 Speculated 0 Reported most in Body Documents 9 Total Number 10 Disease Relevance 9.65 Pain Relevance 4.55

transport (CFTR) ATPase activity (CFTR) plasma membrane (CFTR) enzyme binding (CFTR) protein complex (CFTR) transmembrane transport (CFTR)

Anatomy Link Frequency plasma 1 CFTR (Homo sapiens)

Pain Link Frequency Relevance Heat Chronic pancreatitis 334 100.00 fibrosis 268 100.00 Inflammation 61 96.68 Pain 28 95.92 Pain management 9 78.24 cytokine 25 78.08 Bile 18 74.24 abdominal pain 13 74.24 Inflammatory mediators 20 63.24 nud 5 43.96

Disease Link Frequency Relevance Heat Pancreatitis 479 100.00 Cystic Fibrosis 265 100.00 Targeted Disruption 42 99.62 Hypercalcemia 61 97.60 Diabetes Mellitus 34 97.52 Bone Cancer 50 96.72 INFLAMMATION 81 96.68 Pain 41 95.92 Rickets 8 94.64 Disease 119 93.68

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

The second gene that was characterized to be clearly associated with idiopathic chronic pancreatitis (ICP) was the cystic fibrosis transmembrane conductance regulator (CFTR) gene [10,11].

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

1) Confidence 0.35 Published 2003 Journal BMC Gastroenterol Section Body Doc Link PMC317302 Disease Relevance 1.29 Pain Relevance 0.77

At the present knowledge it can be only stated that the combined genotype CFTR (F508del)/PRSS1 (S181G) is associated to a mild phenotype of acute recurrent pancreatitis in this child without any further conclusion on its pathogenetic role or prediction on the course of the disease.

CFTR Binding (associated) of associated with pancreatitis and disease

2) Confidence 0.30 Published 2010 Journal BMC Gastroenterol Section Abstract Doc Link PMC2970583 Disease Relevance 0.76 Pain Relevance 0.07

In 1998, Sharer and colleagues and Cohn and colleagues were able to show an association of CFTR mutations with chronic pancreatitis [15,16].

CFTR Binding (association) of associated with chronic pancreatitis

3) Confidence 0.25 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC1774562 Disease Relevance 0.88 Pain Relevance 0.72

Other genes, such as the anionic trypsinogen (PRSS2), the serine protease inhibitor, Kazal type 1 (SPINK1) and the cystic fibrosis transmembrane conductance regulator (CFTR) have been found to be associated with chronic pancreatitis (idiopathic and hereditary) as well.

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

4) Confidence 0.25 Published 2007 Journal Orphanet J Rare Dis Section Abstract Doc Link PMC1774562 Disease Relevance 1.68 Pain Relevance 0.98

There are three observations that indicate that CFTR has a direct association with the loss in bone density in the CF patients.

CFTR Binding (association) of associated with fibrosis

5) Confidence 0.24 Published 2011 Journal Journal of Osteoporosis Section Body Doc Link PMC3010683 Disease Relevance 1.34 Pain Relevance 0.35

This would further indicate that there is a direct association between CFTR and the BMD in the CF patients.

CFTR Binding (association) of associated with fibrosis

6) Confidence 0.24 Published 2011 Journal Journal of Osteoporosis Section Body Doc Link PMC3010683 Disease Relevance 1.41 Pain Relevance 0.35

For example, transgenic mice carrying the intact human cystic fibrosis transmembrane regulator gene (CFTR), which spans 200?

CFTR Binding (intact) of associated with targeted disruption, fibrosis and cystic fibrosis

7) Confidence 0.23 Published 2010 Journal Journal of Biomedicine and Biotechnology Section Body Doc Link PMC2938438 Disease Relevance 0.47 Pain Relevance 0.05

Recently published studies confirmed the association of chronic pancreatitis and CFTR mutations, but until now the underlying mechanisms leading to the development of chronic pancreatitis are poorly understood [49-54].

CFTR Binding (association) of associated with chronic pancreatitis

8) Confidence 0.21 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC1774562 Disease Relevance 1.04 Pain Relevance 0.73

This PGE2 release was attenuated by the experimentally induced retrafficking of the Delta F508-CFTR to the plasma membrane [118].

Delta F508-CFTR Binding (retrafficking) of in plasma

9) Confidence 0.19 Published 2006 Journal J Inflamm (Lond) Section Body Doc Link PMC1562419 Disease Relevance 0.33 Pain Relevance 0.24

Several genetic mutations, specifically, PRSS1, CFTR, and SPINK1, are associated with chronic pancreatitis.

CFTR Binding (associated) of associated with chronic pancreatitis

10) Confidence 0.05 Published 2010 Journal Surgery Section Abstract Doc Link 20846557 Disease Relevance 0.46 Pain Relevance 0.29

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