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  • Glare  (3)
  • heredity  (3)
  • 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
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  • 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
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  • 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
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  • 4
    ISSN: 1573-2622
    Keywords: Corneal dystrophy ; Glare ; Straylight
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The direct compensation method allows for an accurate determination of intraocular light scattering between 3.5 and 25 degrees of scattering angle and is suitable for untrained subjects. The method was used to study light scattering in four forms of hereditary corneal dystrophies. Light scattering is the basis of glare complaints and was compared with visual acuity loss. The findings corresponded to the complaint patterns: in central crystalline dystrophy light scattering can be much increased with relatively well preserved visual acuity. In posterior polymorphous dystrophy the reverse is true. In macular dystrophy (Groenouw II) and lattice dystrophy the situation is more or less intermediate between these two extremes.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1573-2622
    Keywords: Glare ; Haze ; Keratectomy ; Myopia ; Photorefractive ; Straylight
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We performed a study to evaluate the influence on visual function of intraocular straylight after photorefractive keratectomy (PRK). We present 4 eyes of 4 myopic individuals, who had contacted our clinic for keratorefractive surgical treatment. PRK's were performed with a Summit laser, using a 5 mm ablation zone. The straylight meter was used to measure the amount of intraocular scattered light, the physical cause of glare complaints, before and after PRK. This apparatus uses the direct compensation method to assess the amount of intraocular light scatter. The results showed a significant increase in straylight values, in the tested eyes, during the first two weeks after PRK. After the initial rise, straylight values returned to preoperative levels, except for two eyes that clearly developed a haze higher than grade two. Instead of returning to baseline levels, straylight values remained significantly higher in these eyes.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    Documenta ophthalmologica 78 (1991), S. 177-181 
    ISSN: 1573-2622
    Keywords: Glare ; straylight ; contrast sensitivity ; light scatter ; disability glare ; discomfort glare
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract An overview is given of the basic phenomena that may lead to glare complaints in patients. Prominent among them is increased intraocular straylight; this can be measured. Other causes may include: increased sensitivity to normal straylight, the length of (increased) light and dark adaptation times, (small angle) neuronal lateral interaction. Distinction must be made between disability glare and discomfort glare. Tests have been proposed to determine glare-induced loss of various visual functions. Often the test results are thought to be directly related to straylight but this may be untrue.
    Type of Medium: Electronic Resource
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