Your email was sent successfully. Check your inbox.

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

Proceed reservation?

Export
  • 1
    facet.materialart.
    Unknown
    German Medical Science; Düsseldorf, Köln
    In:  20. Wissenschaftliche Jahrestagung der DGPP; 20030912-20030914; Rostock; DOCP23 /20030912/
    Publication Date: 2003-09-12
    Description: Wir stellen die audiometrischen und molekulargenetischen Befunde einer Familie mit DFNA 6/14 vor. Bei der Erkrankung handelt es sich um eine mittelgradige sensorische Tief-Mitteltonschwerhörigkeit, die autosomal dominant vererbt wird. Die erhobenen audiometrischen Befunde stimmen mit den zu DFNA 6/14 bisher publizierten Daten überein. Mit Hilfe der molekulargenetischen Analyse konnte eine neue Missense Mutation des WFS1-Gens aufgedeckt werden. Dieses Gen ist auch als auslösende Ursache des Wolfram-Syndroms Typ 1 (WFS1), welches auch als DIDMOAD-Syndrom (Diabetes mellitus, Diabetes insipidus, Opticusatrophie, Schwerhörigkeit) bezeichnet wird, bekannt (Inoue et al. 1998, ). Auf Grundlage bisher bekannter Daten kann angenommen werden, daß bei WFS1-Patienten (autosomal rezessiver Erbgang) ein Hochton-Empfindungshörverlust auftreten kann . Demgegenüber zeigen autosomal dominant betroffene Patienten einen sensorischen Tief-Mitteltonhörverlust . Die molekulargenetischen und audiometrischen Befunde der hier untersuchten Familie werden dargestellt. Weitere Untersuchungen fokussieren den pathogenetischen Effekt der Mutation resp. des durch die Mutation betroffenen Proteins.
    Keywords: ddc: 610
    Language: German
    Type: conferenceObject
    Signatur Availability
    BibTip Others were also interested in ...
  • 2
    Keywords: DISEASE ; UNITED-STATES ; JAPANESE POPULATION ; German ; SEQUENCE VARIANTS ; LOXL1 GENE POLYMORPHISMS ; PSEUDOEXFOLIATION SYNDROME ; GLAUCOMA
    Abstract: Exfoliation syndrome (XFS) is the most common recognizable cause of open-angle glaucoma worldwide. To better understand the etiology of XFS, we conducted a genome-wide association study (GWAS) of 1,484 cases and 1,188 controls from Japan and followed up the most significant findings in a further 6,901 cases and 20,727 controls from 17 countries across 6 continents. We discovered a genome-wide significant association between a new locus (CACNA1A rs4926244) and increased susceptibility to XFS (odds ratio (OR) = 1.16, P = 3.36 x 10(-11)). Although we also confirmed overwhelming association at the LOXL1 locus, the key SNP marker (LOXL1 rs4886776) demonstrated allelic reversal depending on the ancestry group (Japanese: ORA allele = 9.87, P = 2.13 x 10(-217); non-Japanese: ORA allele = 0.49, P = 2.35 x 10(-31)). Our findings represent the first genetic locus outside of LOXL1 surpassing genome-wide significance for XFS and provide insight into the biology and pathogenesis of the disease.
    Type of Publication: Journal article published
    PubMed ID: 25706626
    Signatur Availability
    BibTip Others were also interested in ...
  • 3
    Abstract: Importance: The causal direction and magnitude of the association between telomere length and incidence of cancer and non-neoplastic diseases is uncertain owing to the susceptibility of observational studies to confounding and reverse causation. Objective: To conduct a Mendelian randomization study, using germline genetic variants as instrumental variables, to appraise the causal relevance of telomere length for risk of cancer and non-neoplastic diseases. Data Sources: Genomewide association studies (GWAS) published up to January 15, 2015. Study Selection: GWAS of noncommunicable diseases that assayed germline genetic variation and did not select cohort or control participants on the basis of preexisting diseases. Of 163 GWAS of noncommunicable diseases identified, summary data from 103 were available. Data Extraction and Synthesis: Summary association statistics for single nucleotide polymorphisms (SNPs) that are strongly associated with telomere length in the general population. Main Outcomes and Measures: Odds ratios (ORs) and 95% confidence intervals (CIs) for disease per standard deviation (SD) higher telomere length due to germline genetic variation. Results: Summary data were available for 35 cancers and 48 non-neoplastic diseases, corresponding to 420081 cases (median cases, 2526 per disease) and 1093105 controls (median, 6789 per disease). Increased telomere length due to germline genetic variation was generally associated with increased risk for site-specific cancers. The strongest associations (ORs [95% CIs] per 1-SD change in genetically increased telomere length) were observed for glioma, 5.27 (3.15-8.81); serous low-malignant-potential ovarian cancer, 4.35 (2.39-7.94); lung adenocarcinoma, 3.19 (2.40-4.22); neuroblastoma, 2.98 (1.92-4.62); bladder cancer, 2.19 (1.32-3.66); melanoma, 1.87 (1.55-2.26); testicular cancer, 1.76 (1.02-3.04); kidney cancer, 1.55 (1.08-2.23); and endometrial cancer, 1.31 (1.07-1.61). Associations were stronger for rarer cancers and at tissue sites with lower rates of stem cell division. There was generally little evidence of association between genetically increased telomere length and risk of psychiatric, autoimmune, inflammatory, diabetic, and other non-neoplastic diseases, except for coronary heart disease (OR, 0.78 [95% CI, 0.67-0.90]), abdominal aortic aneurysm (OR, 0.63 [95% CI, 0.49-0.81]), celiac disease (OR, 0.42 [95% CI, 0.28-0.61]) and interstitial lung disease (OR, 0.09 [95% CI, 0.05-0.15]). Conclusions and Relevance: It is likely that longer telomeres increase risk for several cancers but reduce risk for some non-neoplastic diseases, including cardiovascular diseases.
    Type of Publication: Journal article published
    PubMed ID: 28241208
    Signatur Availability
    BibTip Others were also interested in ...
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...