Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
Filter
  • genetics  (3)
  • Leberversagen
  • 1
    Keywords: RECEPTOR ; EXPRESSION ; Germany ; human ; SYSTEM ; SITE ; GENE ; GENES ; HYBRIDIZATION ; SAMPLE ; PATIENT ; COMPLEX ; BINDING ; BIOLOGY ; MOLECULAR-BIOLOGY ; ASSOCIATION ; DISORDER ; polymorphism ; VARIANTS ; TARGET ; IN-SITU ; ASSAY ; MUTATION ; genetics ; etiology ; REGION ; REGIONS ; REPLICATION ; HEALTHY ; LUCIFERASE ; heredity ; ANTAGONIST ; MANAGEMENT ; molecular biology ; molecular ; DISORDERS ; VARIANT ; NEURONS ; analysis ; EPITHELIUM ; pooled analysis ; HTR3A ; ENGLAND ; MUTATION ANALYSIS ; DYSFUNCTION ; UNTRANSLATED REGION ; POOLED-ANALYSIS ; UK ; 5-HT3 ; ABDOMINAL-PAIN ; ALOSETRON
    Abstract: Diarrhea predominant irritable bowel syndrome (IBS-D) is a complex disorder related to dysfunctions in the serotonergic system. As cis-regulatory variants can play a role in the etiology of complex conditions, we investigated the untranslated regions (UTRs) of the serotonin receptor type 3 subunit genes HTR3A and HTR3E. Mutation analysis was carried out in a pilot sample of 200 IBS patients and 100 healthy controls from the UK. The novel HTR3E 3'-UTR variant c.*76G 〉 A (rs62625044) was associated with female IBS-D (P = 0.033, OR = 8.53). This association was confirmed in a replication study, including 119 IBS-D patients and 195 controls from Germany (P = 0.0046, OR = 4.92). Pooled analysis resulted in a highly significant association of c.*76G 〉 A with female IBS-D (P = 0.0002, OR = 5.39). In a reporter assay, c.*76G 〉 A affected binding of miR-510 to the HTR3E 3'-UTR and caused elevated luciferase expression. HTR3E and miR-510 co-localize in enterocytes of the gut epithelium as shown by in situ hybridization and RT-PCR. This is the first example indicating micro RNA-related expression regulation of a serotonin receptor gene with a cis-regulatory variant affecting this regulation and appearing to be associated with female IBS-D
    Type of Publication: Journal article published
    Signatur Availability
    BibTip Others were also interested in ...
  • 2
    Keywords: INHIBITOR ; Germany ; DISEASE ; RISK ; SITE ; GENE ; GENES ; PROTEIN ; ACTIVATION ; CLEAVAGE ; MUTATION ; genetics ; MUTATIONS ; Jun ; INDIVIDUALS ; heredity ; chronic pancreatitis ; RECOMBINANT ; pancreas ; VARIANT ; ENZYME ; pancreatic ; LOSSES ; odds ratio ; PROTECTS ; HEREDITARY PANCREATITIS ; HUMAN CATIONIC TRYPSINOGEN
    Abstract: 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 chronic pancreatitis. Because increased proteolytic activity owing to mutated PRSS1 enhances the risk for chronic pancreatitis, mutations in the gene encoding anionic trypsinogen (PRSS2) may also predispose to disease. Here we analyzed PRSS2 in individuals with chronic pancreatitis and controls and found, to our surprise, that a variant of codon 191 (G191R) is overrepresented in control subjects: G191R was present in 220/6,459 (3.4%) controls but in only 32/2,466 (1.3%) affected individuals (odds ratio 0.37; P = 1.1 x 10(-8)). Upon activation by enterokinase or trypsin, purified recombinant G191R protein showed a complete loss of trypsin activity owing to the introduction of a new tryptic cleavage site that renders the enzyme hypersensitive to autocatalytic proteolysis. In conclusion, the G191R variant of PRSS2 mitigates intrapancreatic trypsin activity and thereby protects against chronic pancreatitis
    Type of Publication: Journal article published
    PubMed ID: 16699518
    Signatur Availability
    BibTip Others were also interested in ...
  • 3
    Keywords: CELL ; DISEASE ; liver ; NEW-YORK ; GENE ; VARIANTS ; genetics ; DEGRADATION ; REPLICATION ; INDIVIDUALS ; HEALTHY ; heredity ; chronic pancreatitis ; pancreas ; VARIANT ; secretion ; PANCREATITIS ; ENZYME ; analysis ; USA ; LIVER-DISEASE ; HEREDITARY PANCREATITIS ; MISSENSE MUTATIONS ; FUNCTIONAL-ANALYSIS ; RATIO ; Replication studies ; CATIONIC TRYPSINOGEN GENE ; INHIBITOR GENE ; PRSS1 ; TROPICAL CALCIFIC PANCREATITIS
    Abstract: 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-degrading enzyme chymotrypsin C (CTRC) in German subjects with idiopathic or hereditary chronic pancreatitis. Two alterations in this gene, p.R254W and p.K247_R254del, were significantly overrepresented in the pancreatitis group, being present in 30 of 901 (3.3%) affected individuals but only 21 of 2,804 (0.7%) controls ( odds ratio (OR)=4.6; confidence interval (CI)=2.6 - 8.0; P=1.3x10(-7)). A replication study identified these two variants in 10 of 348 (2.9%) individuals with alcoholic chronic pancreatitis but only 3 of 432 ( 0.7%) subjects with alcoholic liver disease (OR=4.2; CI=1.2 - 15.5; P=0.02). CTRC variants were also found in 10 of 71 (14.1%) Indian subjects with tropical pancreatitis but only 1 of 84 (1.2%) healthy controls (OR=13.6; CI=1.7 - 109.2; P=0.0028). Functional analysis of the CTRC variants showed impaired activity and/or reduced secretion. The results indicate that loss-of-function alterations in CTRC predispose to pancreatitis by diminishing its protective trypsin-degrading activity
    Type of Publication: Journal article published
    PubMed ID: 18059268
    Signatur Availability
    BibTip Others were also interested in ...
  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Der Internist 39 (1998), S. 1237-1245 
    ISSN: 1432-1289
    Keywords: Schlüsselwörter Lebertransplantation ; Leberversagen ; Lebertransplantation ; Hepatitis ; Therapie ; Leberzirrhose ; Therapie ; Transplantation ; Leber
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Zum Thema Die ultima ratio der Lebertherapie, die Lebertransplantation, hat hierzulande und in aller Welt eine zunehmende Bedeutung gewonnen. Die Prognose der Lebertransplantation ist auch langfristig sehr günstig und hat sich aufgrund vieler Voraussetzungen in den letzten Jahren immer weiter verbessert. Nur die mangelnde Bereitschaft zur Organspende limitiert die Anzahl weiterer wünschenswerter Transplantationen, worauf – wieder einmal – hingewiesen sei. Da hauptsächlich über Indikation und Prognose informierte Ärzte am überzeugendsten in ihrem Umfeld auf einen Wandel zugunsten einer positiven Einstellung zur Organtransplantation bewirken können, sei diese Übersicht auch den nicht auf die Behandlung von Lebererkrankungen spezialisierten Kolleginnen und Kollegen empfohlen. Im Mittelpunkt der vorliegenden Arbeit stehen die Indikationen zur Lebertransplantation und deren Prognose. Da sich diese mit der Progredienz des Leidens im Hinblick auf das Transplantationsergebnis verschlechert, sollte bei bestehender Indikation die Lebertransplantation möglichst bald durchgeführt werden. Große Fortschritte wurden auch mit der möglichst individuellen Immunsuppression und antiviralen Therapie erzielt. Die Ergebnisse in der Entwicklung therapeutischer Systeme, die z.B. im Falle eines aktuen Leberversagens bis zur Bereitstellung eines Spenderorgans vorübergehend die Leberfunktion überbrücken helfen, sind ermutigend. Auch darüber wird referiert.
    Type of Medium: Electronic Resource
    Signatur Availability
    BibTip Others were also interested in ...
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...