| 1. |
- Aad, G, et al.
(författare)
-
- 2015
-
swepub:Mat__t
|
|
| 2. |
- Concepcion Gil-Rodriguez, Maria, et al.
(författare)
-
De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes
- 2015
-
Ingår i: Human Mutation. - : Wiley: 12 months. - 1059-7794 .- 1098-1004. ; 36:4, s. 454-462
-
Tidskriftsartikel (refereegranskat)abstract
- Cornelia de Lange syndrome (CdLS) is characterized by facial dysmorphism, growth failure, intellectual disability, limb malformations, and multiple organ involvement. Mutations in five genes, encoding subunits of the cohesin complex (SMC1A, SMC3, RAD21) and its regulators (NIPBL, HDAC8), account for at least 70% of patients with CdLS or CdLS-like phenotypes. To date, only the clinical features from a single CdLS patient with SMC3 mutation has been published. Here, we report the efforts of an international research and clinical collaboration to provide clinical comparison of 16 patients with CdLS-like features caused by mutations in SMC3. Modeling of the mutation effects on protein structure suggests a dominant-negative effect on the multimeric cohesin complex. When compared with typical CdLS, many SMC3-associated phenotypes are also characterized by postnatal microcephaly but with a less distinctive craniofacial appearance, a milder prenatal growth retardation that worsens in childhood, few congenital heart defects, and an absence of limb deficiencies. While most mutations are unique, two unrelated affected individuals shared the same mutation but presented with different phenotypes. This work confirms that de novo SMC3 mutations account for approximate to 1%-2% of CdLS-like phenotypes.
|
|
| 3. |
|
|
| 4. |
- Flenner, Arjuna, et al.
(författare)
-
Reports of the AAAI 2017 fall symposium series
- 2018
-
Ingår i: AI Magazine. - 0738-4602. ; 39:2, s. 81-86
-
Tidskriftsartikel (refereegranskat)abstract
- The AAAI 2017 Fall Symposium Series was held Thursday through Saturday, November 9–11, at the Westin Arlington Gateway in Arlington, Virginia, adjacent to Washington, DC. The titles of the six symposia were Artificial Intelligence for Human-Robot Interaction; Cognitive Assistance in Government and Public Sector Applications; Deep Models and Artificial Intelligence for Military Applications: Potentials, Theories, Practices, Tools, and Risks; Human-Agent Groups: Studies, Algorithms, and Challenges; Natural Communication for Human-Robot Collaboration; and A Standard Model of the Mind. The highlights of each symposium (except the Natural Communication for Human-Robot Collaboration symposium, whose organizers did not submit a report) are presented in this report.
|
|
| 5. |
- Follette, Katherine B., et al.
(författare)
-
SEEDS ADAPTIVE OPTICS IMAGING OF THE ASYMMETRIC TRANSITION DISK OPH IRS 48 IN SCATTERED LIGHT
- 2015
-
Ingår i: Astrophysical Journal. - 0004-637X .- 1538-4357. ; 798:2
-
Tidskriftsartikel (refereegranskat)abstract
- We present the first resolved near-infrared imagery of the transition disk Oph IRS 48 (WLY 2-48), which was recently observed with ALMA to have a strongly asymmetric submillimeter flux distribution. H-band polarized intensity images show a similar to 60 AU radius scattered light cavity with two pronounced arcs of emission, one from northeast to southeast and one smaller, fainter, and more distant arc in the northwest. K-band scattered light imagery reveals a similar morphology, but with a clear third arc along the southwestern rim of the disk cavity. This arc meets the northwestern arc at nearly a right angle, revealing the presence of a spiral arm or local surface brightness deficit in the disk, and explaining the east-west brightness asymmetry in the H-band data. We also present 0.8-5.4 mu m IRTF SpeX spectra of this object, which allow us to constrain the spectral class to A0 +/- 1 and measure a low mass accretion rate of 10(-8.5) M-circle dot yr(-1), both consistent with previous estimates. We investigate a variety of reddening laws in order to fit the multiwavelength spectral energy distribution of Oph IRS 48 and find a best fit consistent with a younger, higher luminosity star than previous estimates.
|
|
| 6. |
- Green, Damian J, et al.
(författare)
-
Astatine-211 conjugated to an anti-CD20 monoclonal antibody eradicates disseminated B-cell lymphoma in a mouse model.
- 2015
-
Ingår i: Blood. - : American Society of Hematology. - 1528-0020 .- 0006-4971. ; 125:13, s. 2111-9
-
Tidskriftsartikel (refereegranskat)abstract
- α-Emitting radionuclides deposit a large amount of energy within a few cell diameters and may be particularly effective for radioimmunotherapy targeting minimal residual disease (MRD). To evaluate this hypothesis, (211)At-labeled 1F5 monoclonal antibody (mAb) (anti-CD20) was studied in both bulky lymphoma tumor xenograft and MRD animal models. Superior treatment responses to (211)At-labeled 1F5 mAb were evident in the MRD setting. Lymphoma xenograft tumor-bearing animals treated with doses of up to 48 µCi of (211)At-labeled anti-CD20 mAb ([(211)At]1F5-B10) experienced modest responses (0% cures but two- to threefold prolongation of survival compared with negative controls). In contrast, 70% of animals in the MRD lymphoma model demonstrated complete eradication of disease when treated with (211)At-B10-1F5 at a radiation dose that was less than one-third (15 µCi) of the highest dose given to xenograft animals. Tumor progression among untreated control animals in both models was uniformly lethal. After 130 days, no significant renal or hepatic toxicity was observed in the cured animals receiving 15 µCi of [(211)At]1F5-B10. These findings suggest that α-emitters are highly efficacious in MRD settings, where isolated cells and small tumor clusters prevail.
|
|
| 7. |
- Laird, Neil F., et al.
(författare)
-
Climatology of cold season lake-effect cloud bands for the North American Great Lakes
- 2017
-
Ingår i: International Journal of Climatology. - : Wiley. - 0899-8418 .- 1097-0088. ; 37:4, s. 2111-2121
-
Tidskriftsartikel (refereegranskat)abstract
- Geostationary Operational Environmental Satellite (GOES) visible imagery was used to identify lake-effect (LE) clouds in the North American Great Lakes region for the cold seasons (October-March) of 1997/1998 through 2013/2014 to provide a comprehensive climatological description of the seasonal and interannual variability of LE cloud bands. During the average cold season, at least 60% of days each month had LE clouds over some portion of the Great Lakes region and nearly 75% of all LE days had LE clouds present over several lakes simultaneously. Wind-parallel bands (WPB) are observed far more frequently than any other type of LE over Lakes Superior, Michigan, and Huron during the months of December, January, and February. Over Lake Erie, the occurrence of days per month with WPB was found to be approximately 5-10% greater than days with shore-parallel bands (SPBs) throughout the entire cold season. The greatest frequency of SPB occurrences in the Great Lakes region was over Lake Ontario during the months of January and February (approximate to 20% of days). In addition, Lake Ontario was the only lake where the frequencies of WPB and SPB occurrences were fairly similar each month. The annual frequency of WPB occurrences are the most variable among the Great Lakes, decreasing in frequency from the western lakes toward the eastern lakes. Lake Ontario has the largest annual frequency of SPB occurrences and the greatest variation in SPB annual frequency. Lake Huron has the second largest annual frequency of SPB days with small interannual variation. The primary differences of the annual frequency of lake-to-lake (L2L) LE occurrences when compared with previous research were a greater variability in the L2L annual frequency of Superior-to-Michigan connections, greater frequency of Michigan-to-Huron connections, and less frequent occurrences for Superior-to-Huron and Michigan-to-Erie connections.
|
|
