| 1. |
- Kohl, S, et al.
(författare)
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CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
- 2005
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Ingår i: European Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1476-5438 .- 1018-4813. ; 13:3, s. 302-308
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Tidskriftsartikel (refereegranskat)abstract
- Achromatopsia is a congenital, autosomal recessively inherited disorder characterized by a lack of color discrimination, low visual acuity (<0.2), photophobia, and nystagmus. Mutations in the genes for CNGA3, CNGB3, and GNAT2 have been associated with this disorder. Here, we analyzed the spectrum and prevalence of CNGB3 gene mutations in a cohort of 341 independent patients with achromatopsia. In 163 patients, CNGB3 mutations could be identified. A total of 105 achromats carried apparent homozygous mutations, 44 were compound (double) heterozygotes, and 14 patients had only a single mutant allele. The derived CNGB3 mutation spectrum comprises 28 different mutations including 12 nonsense mutations, eight insertions and/or deletions, five putative splice site mutations, and three missense mutations. Thus, the majority of mutations in the CNGB3 gene result in significantly altered and/or truncated polypeptides. Several mutations were found recurrently, in particular a 1 bp deletion, c.1148delC, which accounts for over 70% of all CNGB3 mutant alleles. In conclusion, mutations in the CNGB3 gene are responsible for approximately 50% of all patients with achromatopsia. This indicates that the CNGB3/ACHM3 locus on chromosome 8q21 is the major locus for achromatopsia in patients of European origin or descent.
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| 2. |
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| 3. |
- von Doetinchem, P., et al.
(författare)
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Cosmic-ray antinuclei as messengers of new physics : status and outlook for the new decade
- 2020
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Ingår i: Journal of Cosmology and Astroparticle Physics. - : IOP Publishing. - 1475-7516. ; :8
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Tidskriftsartikel (refereegranskat)abstract
- The precise measurement of cosmic-ray antinuclei serves as an important means for identifying the nature of dark matter and other new astrophysical phenomena, and could be used with other cosmic-ray species to understand cosmic-ray production and propagation in the Galaxy. For instance, low-energy antideuterons would provide a "smoking gun" signature of dark matter annihilation or decay, essentially free of astrophysical background. Studies in recent years have emphasized that models for cosmic-ray antideuterons must be considered together with the abundant cosmic antiprotons and any potential observation of antihelium. Therefore, a second dedicated Antideuteron Workshop was organized at UCLA in March 2019, bringing together a community of theorists and experimentalists to review the status of current observations of cosmic-ray antinuclei, the theoretical work towards understanding these signatures, and the potential of upcoming measurements to illuminate ongoing controversies. This review aims to synthesize this recent work and present implications for the upcoming decade of antinuclei observations and searches. This includes discussion of a possible dark matter signature in the AMS-02 antiproton spectrum, the most recent limits from BESS Polar-II on the cosmic antideuteron flux, and reports of candidate antihelium events by AMS-02; recent collider and cosmic-ray measurements relevant for antinuclei production models; the state of cosmic-ray transport models in light of AMS-02 and Voyager data; and the prospects for upcoming experiments, such as GAPS. This provides a roadmap for progress on cosmic antinuclei signatures of dark matter in the coming years.
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| 4. |
- Bergström, L, et al.
(författare)
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Is the dark matter interpretation of the EGRET gamma excess compatible with antiproton measurements?
- 2006
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Ingår i: Journal of Cosmology and Astroparticle Physics. ; 0605:006
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Tidskriftsartikel (refereegranskat)abstract
- We investigate the internal consistency of the halo dark matter model which has been proposed by de Boer et al. to explain the excess of diffuse galactic gamma rays observed by the EGRET experiment. Any model based on dark matter annihilation into quark jets, such as the supersymmetric model proposed by de Boer et al., inevitably also predicts a primary flux of antiprotons from the same jets. Since propagation of the antiprotons in the unconventional, disk-dominated type of halo model used by de Boer et al. is strongly constrained by the measured ratio of boron to carbon nuclei in cosmic rays, we investigate the viability of the model using the DarkSUSY package to compute the gamma-ray and antiproton fluxes. We are able to show that their model is excluded by a wide margin from the measured flux of antiprotons. We therefore find that a model of the type suggested by Moskalenko et al., where the intensities of protons and electrons in the cosmic rays vary with galactic position, is far more plausible to explain the gamma excess.
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