Your email was sent successfully. Check your inbox.

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

Proceed reservation?

Export
Filter
  • genetics  (3)
  • glare  (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
    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
    Documenta ophthalmologica 61 (1986), S. 327-333 
    ISSN: 1573-2622
    Keywords: stray light ; glare ; contrast sensitivity ; cataract ; corneal dystrophy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract For healthy eyes intraocular light scatter was investigated several decades ago. For pathological eyes, however, little is known. As clinical test several techniques have been proposed but none has gained general acceptance. A disadvantage of these tests was that quantities were estimated that related only indirectly to the amount of light scatter. We propose a method that gives a direct estimate of the light scatter. We studied patients with cataract, corneal dystrophy, iris and fundus hypopigmentation, etc. A remarkable finding was that visual acuity correlates rather weakly with the amount of scatter. Since, however, the amount of scatter causes a considerable loss of visual function, the results show that for these patients the visual acuity test gives a rather limited impression of their visual handicap. More attention to the problems associated with intraocular light scatter is needed.
    Type of Medium: Electronic Resource
    Signatur Availability
    BibTip Others were also interested in ...
  • 5
    ISSN: 1573-2622
    Keywords: Diaphany ; translucency ; straylight ; glare ; light scatter ; X-linked megalocornea ; contrast sensitivity ; visual optics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Intraocular straylight can be measured, in clinical as well as normal cases, by the direct compensation technique. Intraocular straylight is known to originate from the cornea, lens and fundus. We have studied a fourth source: the translucency of the iris and surrounding ocular wall. For lightly-pigmented normal eyes this source proved to be important. In the present paper results are reported from a patient with X-linked megalocornea. He had diaphany of the iris, as is common in these patients, and photophobic complaints. Quantitative measurements showed that the translucency was much increased so that the intraocular straylight was far above the normal level.
    Type of Medium: Electronic Resource
    Signatur Availability
    BibTip Others were also interested in ...
  • 6
    Electronic Resource
    Electronic Resource
    Springer
    Documenta ophthalmologica 78 (1991), S. 161-167 
    ISSN: 1573-2622
    Keywords: Intraocular implant lenses ; IOL ; non-monofocal lenses ; bifocal lenses ; multifocal lenses ; diffraction lenses ; modulation transfer function ; contrast sensitivity function ; straylight ; glare
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Non-monofocal IOLs are designed to give simultaneously sharp images of distant and near objects. This is achieved by means of different focal distances for various portions of the light reaching the eye. As a result, for any given object, one part of the light will be properly focused, while another part is out of focus. This results in a sharp image superposed on a blurred image, causing contrast loss. The retinal contrast loss as a function of spatial frequency is derived in this paper.
    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...