103 research outputs found
The discovery of an evolving dust scattered X-ray halo around GRB 031203
We report the first detection of a time-dependent, dust-scattered X-ray halo
around a gamma-ray burst. GRB 031203 was observed by XMM-Newton starting six
hours after the burst. The halo appeared as concentric ring-like structures
centered on the GRB location. The radii of these structures increased with time
as t^{1/2}, consistent with small-angle X-ray scattering caused by a large
column of dust along the line of sight to a cosmologically distant GRB. The
rings are due to dust concentrated in two distinct slabs in the Galaxy located
at distances of 880 and 1390 pc, consistent with known Galactic features. The
halo brightness implies an initial soft X-ray pulse consistent with the
observed GRB.Comment: 4 pages. 4 figures. Accepted for publication in ApJ Letter
Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho‐dento‐osseous syndrome
Objectives: Variants in DLX3 cause tricho‐dento‐osseous syndrome (TDO, MIM #190320), a systemic condition with hair, nail and bony changes, taurodontism and amelogenesis imperfecta (AI), inherited in an autosomal dominant fashion. Different variants found within this gene are associated with different phenotypic presentations. To date, six different DLX3 variants have been reported in TDO. The aim of this paper was to explore and discuss three recently uncovered new variants in DLX3.
Subjects and Methods: Whole‐exome sequencing identified a new DLX3 variant in one family, recruited as part of an ongoing study of genetic variants associated with AI. Targeted clinical exome sequencing of two further families revealed another new variant of DLX3 and complete heterozygous deletion of DLX3. For all three families, the phenotypes were shown to consist of AI and taurodontism, together with other attenuated features of TDO.
Results: c.574delG p.(E192Rfs*66), c.476G>T (p.R159L) and a heterozygous deletion of the entire DLX3 coding region were identified in our families.
Conclusion: These previously unreported variants add to the growing literature surrounding AI, allowing for more accurate genetic testing and better understanding of the associated clinical consequences
Resolving Troubled Systemically Important Cross-Border Financial Institutions: Is a New Corporate Organizational Form Required?
Urban Environmental Health and Sensitive Populations: How Much are the Italians Willing to Pay to Reduce Their Risks?
What are the Effects of Contamination Risks on Commercial and Industrial Properties? Evidence from Baltimore, Maryland
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