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  • Articles  (78)
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  • 1
    Publication Date: 2012-08-24
    Description: Mutations generate sequence diversity and provide a substrate for selection. The rate of de novo mutations is therefore of major importance to evolution. Here we conduct a study of genome-wide mutation rates by sequencing the entire genomes of 78 Icelandic parent-offspring trios at high coverage. We show that in our samples, with an average father's age of 29.7, the average de novo mutation rate is 1.20 x 10(-8) per nucleotide per generation. Most notably, the diversity in mutation rate of single nucleotide polymorphisms is dominated by the age of the father at conception of the child. The effect is an increase of about two mutations per year. An exponential model estimates paternal mutations doubling every 16.5 years. After accounting for random Poisson variation, father's age is estimated to explain nearly all of the remaining variation in the de novo mutation counts. These observations shed light on the importance of the father's age on the risk of diseases such as schizophrenia and autism.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3548427/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3548427/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Kong, Augustine -- Frigge, Michael L -- Masson, Gisli -- Besenbacher, Soren -- Sulem, Patrick -- Magnusson, Gisli -- Gudjonsson, Sigurjon A -- Sigurdsson, Asgeir -- Jonasdottir, Aslaug -- Jonasdottir, Adalbjorg -- Wong, Wendy S W -- Sigurdsson, Gunnar -- Walters, G Bragi -- Steinberg, Stacy -- Helgason, Hannes -- Thorleifsson, Gudmar -- Gudbjartsson, Daniel F -- Helgason, Agnar -- Magnusson, Olafur Th -- Thorsteinsdottir, Unnur -- Stefansson, Kari -- MH071425/MH/NIMH NIH HHS/ -- R01 MH071425/MH/NIMH NIH HHS/ -- England -- Nature. 2012 Aug 23;488(7412):471-5. doi: 10.1038/nature11396.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland. kong@decode.is〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/22914163" target="_blank"〉PubMed〈/a〉
    Keywords: Adult ; Autistic Disorder/epidemiology/etiology/*genetics ; Chromosomes, Human/genetics ; Female ; *Genetic Predisposition to Disease ; Genome, Human/genetics ; Humans ; Iceland/epidemiology ; Male ; Middle Aged ; Mothers ; *Mutation Rate ; Ovum/metabolism ; *Paternal Age ; Pedigree ; Polymorphism, Single Nucleotide/genetics ; Risk Factors ; Schizophrenia/epidemiology/etiology/*genetics ; Selection, Genetic/genetics ; Sequence Analysis, DNA ; Spermatozoa/metabolism ; Young Adult
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Diabetologia 1 (1965), S. 128-130 
    ISSN: 1432-0428
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Résumé L'auteur rapporte un essai d'utilisation de petites doses de Chlorpropamide dans les cas de diabète subclinique; le diabète subclinique est défini comme un diabète chimique avec glycémie normale à jeun et absence de symptômes diabétiques. Des sujets avec diabète subclinique ont été examinés pour glycosurie sans autres symptômes associés ou bien pour d'autres caractéristiques cliniques que l'on sait être souvent associées au diabète. La tolérance au glucose a été déterminée initialement et ensuite à intervalles précis à l'aide de la technique intraveineuse; les résultats ont été exprimés numériquement en Index d'Incrément. Pour établir l'effet à long terme de petites doses de Chlorpropamide des précautions ont été prises en vue d'exclure les influences non-spécifiques d'une perte excessive de poids, du repos au lit, et de la grossesse. Le traitement au Chlorpropamide a été temporairement interrompu, environ trois semaines avant d'exécuter les tests intraveineux de tolérance au glucose successifs. Les résultats obtenus sur 107 sujets ont montré une amélioration de la tolérance au glucose chez 78 sujets, pas de modifications chez 2, une détérioration chez 27. Les résultats les plus favorables ont été obtenus chez 30 femmes âgées de moins de 35 ans qui ont atteint un Index d'Incrément normal après une période de 10 mois et demi de traitement en moyenne par le Chlorpropamide. Actuellement un ≪double blind trial≫ est effectué sur une plus grande échelle sous les auspices de la Section Médicale et Scientifique de la ≪British Diabetic Association≫ en utilisant un groupe de malades témoins traités par placebo.
    Abstract: Zusammenfassung Es wird der Versuch beschrieben, kleine Dosen Chloropropamid zur Behandlung des latenten Diabetes zu verwenden. Der latente Diabetes wurde als chemischer Diabetes mit normalem Nüchternblutzucker und fehlenden diabetischen Symptomen definiert. Die Personen mit latentem Diabetes wurden wegen symptomloser Glykosurie oder wegen eines oder mehrerer klinischer, häufig mit Diabetes verbundener Zeichen untersucht. Die Glukosetoleranz wurde am Beginn und in bestimmten Intervallen mit der intravenösen Technik bestimmt. Die Ergebnisse wurden in Zahlen als Index des Anstiegs ausgedrückt. Bei der Beurteilung des Langzeit-Effektes kleiner Dosen Chloropropamid wurden Vorkehrungen getroffen, um den unspezifischen Einfluß der Entfettung, der Bettruhe und der Schwangerschaft auszuschließen. Etwa drei Wochen vor dem nachfolgenden intravenösen Glukosetoleranztest wurde die Chloropropamidtherapie zeitweise unterbrochen. Die Ergebnisse von 107 Personen zeigten eine Verbesserung der Glukosetoleranz in 78, keine Änderung in 2 und eine Verschlechterung in 27 Fällen. Die günstigsten Ergebnisse zeigten sich bei 30 Frauen unter 35 Jahren, die nach einer durchschnittlichen Chloropropamidbehandlung von 101/2 Monaten einen normalen Index des Anstiegs erreichen. Zur Zeit wird in Zusammenarbeit mit der medizinischenwissenschaftlichen Sektion der British Diabetic Association ein umfangreicherer Doppelblindversuch durchgeführt, wobei auch eine nur mit Placebo behandelte Gruppe untersucht wird.
    Notes: Summary A trial is described of the use of small doses of Chlorpropamide for subclinical diabetes, defined as chemical diabetes with a normal fasting blood sugar and without diabetic symptoms. Subjects with subclinical diabetes were investigated for symptomless glycosuria or because of one or more of a number of clinical characteristics known often to be associated with diabetes. Glucose tolerance was measured initially and at intervals by the intravenous technique, the results being expressed numerically as Increment Indices. Precautions were taken to exclude the non-specific influences of loss of excess weight, of bed rest and of pregnancy when assessing the long-term effect of small doses of Chlorpropamide. The Chlorpropamide treatment was temporarily discontinued some three weeks before performing the sequential intravenous glucose tolerance test. Results on 107 subjects showed improvement in glucose tolerance in 78, no change in 2 and deterioration in 27. The most favourable results were obtained in the 30 women under 35 years of age who achieved a normal Increment Index after an average of 121/2 months treatment of Chlorpropamide. A larger scale, double-blind trial is being performed under the auspices of the Medical & Scientific Section of the British Diabetic Association using a placebo-treated control group.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-0428
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-0428
    Keywords: Type 1 (insulin-dependent) diabetes mellitus ; children ; epidemiology ; incidence ; prevalence ; Iceland
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Through use of primary and secondary data sources for registration and validation, the incidence and prevalence of Type 1 (insulin-dependent) diabetes mellitus in children aged 0–14 years in Iceland has been completely ascertained for the years 1970–1989. The age-adjusted mean annual incidence per 100,000 for the 20-year period was 9.4 (95% confidence interval 7.8–11.3); similar for boys (9.9; 7.7–12.7) and girls (8.8; 6.7–11.5). Between 1970–1979 the incidence was 8.0 (6.0–10.6) and between 1980–1989 it was comparable at 10.8 (8.4–13.8) (p〉0.10). By Poisson regression analysis the variation in incidence was related to age at diagnosis (p〈0.001), while a linear trend for calendar year at diagnosis did not reach statistical significance (p=0.07). A quadratic curve, however, better described the temporal variation in incidence (p〈0.05). The total prevalence per 1,000 by the end of 1979 and 1989 was similar, 0.45 (0.30–0.65) and 0.57 (0.40–0.79), respectively. In conclusion, this study confirms that both the incidence and prevalence of childhood Type 1 diabetes in Iceland are low compared to the other Nordic countries. The findings may suggest a causative role for environmental factors that are not related to latitude or ambient temperature.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1365-2761
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology , Medicine
    Notes: Abstract A total of 1239 kidney samples from four species of salmonid fish, Atlantic salmon, Salmo salar L., brown trout, Salmo trutta L., Arctic charr, Salvelinus alpinus (L.), and rainbow trout, Oncorhynchus mykiss (Walbaum), were screened for Renibacterium salmoninarum using double-sandwich ELISA and bacterial isolation. For bacterial isolation, samples were homogenized, washed, plated onto S-KDM and incubated for 12 weeks. Samples for ELISA were kept frozen until tested. After thawing, 25% homogenates in PBS were heated at 100°C for 15 min in the presence (2.5% v/v) of HemoDe solvent (terpene and butylated hydroxyanisole) and then centrifuged. The supernatant was tested with polyclonal antibodies against whole bacterium in a double-sandwich ELISA. In seven out of 12 groups tested, all samples were negative in both tests. Positive ELISA results occurred in five groups. Renibacterium salmoninarum was isolated on SKDM from samples in four out of these five groups. The ELISA test gave significantly higher numbers of positive samples in three out of the four groups showing positive results in both tests.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1365-2761
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology , Medicine
    Notes: Abstract. The effectiveness of three different growth media KDM-2, S-KDM and S-KDM-C for primary isolation of Renibacterium salmoninarum was examined over a 14-week incubation period. Kidney samples were taken from Atlantic salmon, Salmo salar L., broodfish returning to a sea ranch after 2 years at sea. Homogenized samples were inoculated onto two selective media, S-KDM supplemented with lamb serum and S-KDM-C supplemented with activated charcoal. The third medium was the non-selective serum supplemented KDM-2. Renibacterium salmoninarum was isolated from 112 samples on one or more of the media used. Of all positive samples, 91% were positive on S-KDM, 60% on S-KDM-C and 35% on KDM-2. These results demonstrate that selectivity significantly enhances the isolation capacity of the medium and that supplementing with serum is significantly more effective than supplementing with charcoal.
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  • 7
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    Journal of fish diseases 1 (1978), S. 0 
    ISSN: 1365-2761
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology , Medicine
    Notes: Abstract. Infection of Atlantic salmon, Salmo salar L., in seawater with Exophiala salmonis is described. Histological effects consisted principally of granuloma formation, especially in the posterior kidney and spread appeared to occur both by extension and by the liaematogenous route. The nature of the outbreak suggested that the original infection occurred via contaminated food.A comparison is made between this condition and systemic mycoses in other species.
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  • 8
    ISSN: 1365-2761
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology , Medicine
    Notes: In Iceland the rearing temperature of salmonid fish, mostly Atlantic salmon, is generally below 10°C. Infections most often characterized by shallow skin lesions that may cause considerable mortality have been endemic in the country since rearing in salt water started. A variety of Vibrio spp. has been isolated from the diseased fish. In the present study, a total of 58 strains isolated from salmonid fish and 21 reference strains were subjected to a numerical taxonomy study. The results show that two phena are most common in the diseased fish; one of them includes V. marinus, whereas the other does not include a reference strain but has similarities to V. logei. Challenge tests showed that a representative strain of the phenon that included V. marinus is pathogenic for Atlantic salmon with an LD50 lower than 3.5 × 103.
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 1365-2761
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology , Medicine
    Notes: Cod, Gadus morhua L., of wild origin, were reared at different temperatures for 12 months. During this period, moribund and newly dead fish were examined and samples collected for bacteriology and histopathology. Atypical Aeromonas salmonicida was isolated from 10 individuals reared at or above 7 °C. The isolates were homogeneous with respect to biochemical and antibiogram characters and similar to the ssp. achromogenes National Collection of Industrial and Marine Bacteria, UK, type strain 1110 and reference strains that have been isolated from salmonids and haddock in Iceland. Histopathological analysis of the naturally infected cod showed typical ulceration associated with atypical A. salmonicida infection and also widespread granulomatous formations. One-year-old cod of farmed origin, kept at 9 °C, received intraperitoneal or intramuscular injection with different doses of atypical A. salmonicida, isolated from the above wild cod. Mortalities were monitored for 28 days and the LD50 calculated. The route of bacterial injection influenced the mortality rate and LD50 value and affected, to some extent, the pathological changes observed and humoral immune parameters. Pathological changes, including haemorrhage, early stages of granuloma formation and necrotic changes, were seen in several organs. Infection appeared to induce non-specific antibody activity against trinitrophenyl (TNP)-haptenated protein and may have activated the complement system. Specific antibody response against atypical A. salmonicida was not detected.
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  • 10
    ISSN: 1365-2761
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology , Medicine
    Notes: Abstract. Cultivation plates for the primary isolation of Renibacterium salmoninarum were incubated for 12 or more weeks over 3.5 years. The incubation time for sample of two groups of Atlantic salmon, Salmo solar L., broodfish on a selective agar medium is reported. Samples turned positive over a long time-span. but the longest incubation time recorded for growth of the bacterium was 19 week. In one group, 79% of all positive samples form fish with macroscopic signs of bacterial kidney disease were positive after 6 weeks of incubation and the highest incidence of positive samples occured during the sixth week. From covertly infected fish within the same group.42% of sample were positive after 6 weeks of incubation, and the highest incidence of positive sample occured during the sixth and the ninth weeks of incubation. The growth pattern of the bacterium at primary isolation was characterized by a prolonged lag phase followed by a relatively growth in one week from microscopic to macroscopic size of the colonies.
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