| 1. |
- Fiore, Achille, et al.
(författare)
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Detailed spectrophotometric analysis of the superluminous and fast evolving SN 2019neq
- 2024
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Ingår i: Monthly notices of the Royal Astronomical Society. - 0035-8711 .- 1365-2966. ; 527:3, s. 6473-6494
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Tidskriftsartikel (refereegranskat)abstract
- SN 2019neq was a very fast evolving superluminous supernova. At a redshift z = 0.1059, its peak absolute magnitude was −21.5 ± 0.2 mag in g band. In this work, we present data and analysis from an extensive spectrophotometric follow-up campaign using multiple observational facilities. Thanks to a nebular spectrum of SN 2019neq, we investigated some of the properties of the host galaxy at the location of SN 2019neq and found that its metallicity and specific star formation rate are in a good agreement with those usually measured for SLSNe-I hosts. We then discuss the plausibility of the magnetar and the circumstellar interaction scenarios to explain the observed light curves, and interpret a nebular spectrum of SN 2019neq using published SUMO radiative-transfer models. The results of our analysis suggest that the spin-down radiation of a millisecond magnetar with a magnetic field B ≃ 6×1014 G could boost the luminosity of SN 2019neq.
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| 2. |
- Cordeddu, Viviana, et al.
(författare)
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Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome
- 2015
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Ingår i: Human Mutation. - : WILEY-BLACKWELL. - 1059-7794 .- 1098-1004. ; 36:11, s. 1080-1087
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Tidskriftsartikel (refereegranskat)abstract
- The RASopathies constitute a family of autosomal-dominant disorders whose major features include facial dysmorphism, cardiac defects, reduced postnatal growth, variable cognitive deficits, ectodermal and skeletal anomalies, and susceptibility to certain malignancies. Noonan syndrome (NS), the commonest RASopathy, is genetically heterogeneous and caused by functional dysregulation of signal transducers and regulatory proteins with roles in the RAS/extracellular signal-regulated kinase (ERK) signal transduction pathway. Mutations in known disease genes account for approximately 80% of affected individuals. Here, we report that missense mutations altering Son of Sevenless, Drosophila, homolog 2 (SOS2), which encodes a RAS guanine nucleotide exchange factor, occur in a small percentage of subjects with NS. Four missense mutations were identified in five unrelated sporadic cases and families transmitting NS. Disease-causing mutations affected three conserved residues located in the Dbl homology (DH) domain, of which two are directly involved in the intramolecular binding network maintaining SOS2 in its autoinhibited conformation. All mutations were found to promote enhanced signaling from RAS to ERK. Similar to NS-causing SOS1 mutations, the phenotype associated with SOS2 defects is characterized by normal development and growth, as well as marked ectodermal involvement. Unlike SOS1 mutations, however, those in SOS2 are restricted to the DH domain.
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| 3. |
- Hedberg, Carola, 1969, et al.
(författare)
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Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations
- 2014
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Ingår i: Journal of Neurology. - : Springer. - 0340-5354 .- 1432-1459. ; 261:5, s. 870-876
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Tidskriftsartikel (refereegranskat)abstract
- We investigated three unrelated patients with tubular-aggregate myopathy and slowly progressive muscle weakness manifesting in the first years of life. All patients showed type 1 muscle fiber predominance and hypotrophy of type 2 fibers. Tubular aggregates were abundant. In all three patients mutations were identified in the gene STIM1, and the mutations were found to be de novo in all patients. In one of the patients the mutation was identified by exome sequencing. Two patients harbored the previously described mutation c.326A > G p.(His109Arg), while the third patient had a novel mutation c.343A > T p.(Ile115Phe). Taking our series together with previously published cases, the c.326A > G p.(His109Arg) seems to be a hotspot mutation that is characteristically related to early onset muscle weakness.
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