![Loading...](https://link.springer.com/static/c4a417b97a76cc2980e3c25e2271af3129e08bbe/images/pdf-preview/spacer.gif)
-
Chapter
Pankreaskrankheiten
Das Pankreas besitzt eine zentrale Rolle in der Aufschließung der Nahrungsbestandteile und der Regulation des Blutzuckerspiegels. Neben der zystischen Fibrose ist die Pankreatitis die häufigste Erkrankung des ...
-
Living Reference Work Entry In depth
Pankreaskrankheiten bei Kindern und Jugendlichen
Das Pankreas besitzt eine zentrale Rolle in der Aufschließung der Nahrungsbestandteile und der Regulation des Blutzuckerspiegels. Neben der zystischen Fibrose ist die Pankreatitis die häufigste Erkrankung des ...
-
Article
Reassessment of GLUT7 and GLUT9 as Putative Fructose and Glucose Transporters
Although increased dietary fructose consumption is associated with metabolic impairments, the mechanisms and regulation of intestinal fructose absorption are poorly understood. GLUT5 is considered to be the ma...
-
Article
Open AccessFructose malabsorption
Incomplete intestinal absorption of fructose might lead to abdominal complaints such as pain, flatulence and diarrhoea. Whether defect fructose transporters such as GLUT5 or GLUT2 are involved in the pathogene...
-
Article
A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis
Anders Molven and colleagues show that a recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis. The hybrid allele is associated with approximately fivefol...
-
Article
Variants in CPA1 are strongly associated with early onset chronic pancreatitis
Heiko Witt, Miklós Sahin-Tóth and colleagues show that loss-of-function variants in CPA1 are strongly associated with early onset chronic pancreatitis. On the basis of their findings, they propose that the mechan...
-
Article
New modifier loci in cystic fibrosis
A genome-wide association study has identified two new loci modifying pulmonary disease severity in cystic fibrosis. Although this data offers clues to pathways influencing pulmonary function, the underlying g...
-
Article
Interleukin 18 Promoter Variants (−137G>C and −607C>A) in Patients with Chronic Hepatitis C: Association with Treatment Response
Recently, two functional IL18 promoter variants, −607C>A (rs1946518) and −137G>C (rs187238), were associated with viral clearance in patients with hepatitis C. The present study focused on their relevance for tre...
-
Article
Genetic aspects of tropical calcific pancreatitis
Tropical calcific pancreatitis (TCP) is a subtype of chronic pancreatitis which is unique to tropical regions. Patients present at young age with recurrent abdominal pain, nutritional deficiencies, and insulin...
-
Article
Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis
Chronic pancreatitis is a persistent inflammatory disease of the pancreas, in which the digestive protease trypsin has a fundamental pathogenetic role. Here we have analyzed the gene encoding the trypsin-degra...
-
Article
Keratin 8 sequence variants in patients with pancreatitis and pancreatic cancer
Keratin 8 (KRT8) is one of the major intermediate filament proteins expressed in single-layered epithelia of the gastrointestinal tract. Transgenic mice over-expressing human KRT8 display pancreatic mononuclear i...
-
Article
A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis
Chronic pancreatitis is a common inflammatory disease of the pancreas. Mutations in the genes encoding cationic trypsinogen (PRSS1)1 and the pancreatic secretory trypsin inhibitor (SPINK1)2 are associated with ch...
-
Article
Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy
-
Article
Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis
Chronic pancreatitis (CP) is a continuing or relapsing inflammatory disease of the pancreas. In approximately one-third of all cases, no aetiological factor can be found, and these patients are classified as h...
-
Article
HFE gene mutation and transferrin saturation in very low birthweight infants