|
Colorectal Neoplasms
|
0.300 |
Biomarker
|
group |
CTD_human |
The role of ABC transporters in progression and clinical outcome of colorectal cancer.
|
22294766 |
2012 |
|
Drug abuse
|
0.300 |
Biomarker
|
group |
CTD_human |
Genome wide association for addiction: replicated results and comparisons of two analytic approaches.
|
20098672 |
2010 |
|
Drug Use Disorders
|
0.300 |
Biomarker
|
group |
CTD_human |
Genome wide association for addiction: replicated results and comparisons of two analytic approaches.
|
20098672 |
2010 |
|
Substance Use Disorders
|
0.300 |
Biomarker
|
group |
CTD_human |
Genome wide association for addiction: replicated results and comparisons of two analytic approaches.
|
20098672 |
2010 |
|
Substance-Related Disorders
|
0.300 |
Biomarker
|
group |
CTD_human |
Genome wide association for addiction: replicated results and comparisons of two analytic approaches.
|
20098672 |
2010 |
|
Drug Dependence
|
0.300 |
Biomarker
|
group |
CTD_human |
Genome wide association for addiction: replicated results and comparisons of two analytic approaches.
|
20098672 |
2010 |
|
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
HPO |
|
|
|
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
We present a non-consanguineous family of three siblings who presented with diabetes mellitus (DM), two of whom had genetically confirmed cystic fibrosis (CF), with one pancreatic-sufficient mutation in the cystic fibrosis transmembrane conductance regulator (<i>CFTR</i>) gene (ΔF508/R117H;IVS8-5T).
|
30269055 |
2019 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
These results indicate that CFRD is caused by β cell loss and intraislet inflammation in the setting of a complex pleiotropic disease and not by intrinsic islet dysfunction from CFTR mutation.
|
29669939 |
2018 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Pancreatic exocrine disease caused by CF transmembrane conductance regulator (CFTR) dysfunction underlies the high rate of diabetes in CF patients; however, only a subset develops this complication, indicating that other factors are necessary.
|
19126627 |
2009 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
In idiopathic chronic pancreatitis patients with one or more CFTR gene mutations, exocrine and endocrine insufficiency (diabetes and steatorrhoea) were rare or delayed events.
|
12779072 |
2003 |
|
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
How CFTR deficiency predisposes to diabetes is unknown.
|
26283735 |
2015 |
|
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
In a multivariate model of 377 cases of 3,275 patients, CFTR class (relative risk 1.70 [95% CI 1.16-2.49], class I or II versus others), increasing age, female sex, worse pulmonary function, liver dysfunction, pancreatic insufficiency, and corticosteroid use were independently associated with incident diabetes.
|
18535191 |
2008 |
|
Diabetes Mellitus
|
0.200 |
AlteredExpression
|
group |
BEFREE |
The proposed mechanism is supported by several pieces of evidence including: (1) the absolute essentiality of an intact unfolded protein response (UPR) machinery for survival of pancreatic beta-cells, (2) the high susceptibility of beta-cells to prolonged ER stress leading to induction of pro-apoptotic factors and apoptosis pathways in beta-cells, (3) CF patients with mutations in CFTR gene that are engaging the ER quality control system (ERAD) and hence UPR signalling are twenty time more likely to develop diabetes than those with other types of CF-causing mutations, and (4) the high levels of CFTR gene expression in pancreatic islet cells.
|
18851900 |
2009 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Despite the increasing understanding of CFTR functioning, several aspects of CF need still to be clarified, e.g., the worse outcome in females, the risk of malignancies, the pathophysiology, and best treatment of comorbidities, such as CF-related diabetes or CF-related bone disorder.
|
27709245 |
2017 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Genotype impacted both mortality and diabetes risk: adults with severe CFTR genotypes experienced greater mortality at every age older than 32 years than those with mild genotypes (P = 0.002), and the risk of developing CFRD was also greatly increased in those with severe genotypes (prevalence 60% in adult patients with severe vs. 14% in adults with mild mutations).
|
25479583 |
2015 |
|
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
However, the emergence of CFTR corrector and potentiator drugs may offer a personalised approach to treating diabetes in the CF population.
|
27033560 |
2016 |
|
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
The results reveal that by potentiating KATP channels, CFTR acts as a glucose-sensing negative regulator of glucagon secretion in α cells, a defect of which may contribute to glucose intolerance in CF and other types of diabetes.
|
28977595 |
2017 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Metformin treatment of diabetes mellitus increases the risk for pancreatitis in patients bearing the CFTR-mutation S573C.
|
20332619 |
2010 |
|
Malabsorption Syndrome
|
0.170 |
Biomarker
|
group |
BEFREE |
The gastrointestinal tract offers very good opportunities to measure CFTR protein function and systematically evaluate CF related clinical outcomes based on the principal clinical gastrointestinal manifestations of CF: intestinal pH, intestinal transit time, intestinal bile salt malabsorption, intestinal inflammation, exocrine pancreatic function and intestinal fat malabsorption.
|
25677689 |
2015 |
|
Malabsorption Syndrome
|
0.170 |
Biomarker
|
group |
BEFREE |
Collectively, these results highlight the role played by CFTR in intestinal handling of lipids and may suggest that factors other than defective CFTR are responsible for the abnormal intracellular events leading to fat malabsorption in CF patients.
|
19808659 |
2009 |
|
Malabsorption Syndrome
|
0.170 |
GeneticVariation
|
group |
BEFREE |
Severe malabsorption by the gastrointestinal (GI) tract was the primary cause of death in CFTR-knockout kits that escaped MI.
|
20739752 |
2010 |
|
Malabsorption Syndrome
|
0.170 |
Biomarker
|
group |
HPO |
|
|
|
|
Malabsorption Syndrome
|
0.170 |
Biomarker
|
group |
BEFREE |
The lack of CFTR or its impaired function causes fat malabsorption and chronic pulmonary infections leading to bronchiectasis and progressive lung damage.
|
27709245 |
2017 |
|
Malabsorption Syndrome
|
0.170 |
GeneticVariation
|
group |
BEFREE |
Establishing the diagnosis of cystic fibrosis (CF) is straight forward in the majority of patients: they present with a clear clinical picture (most frequently chronic respiratory symptoms plus malabsorption), the sweat chloride value is>60mmol/L and two known disease causing CFTR mutations are identified.
|
28576637 |
2017 |