| 1. |
- Sen, Partha, et al.
(författare)
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Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain
- 2013
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Ingår i: Human Mutation. - : Hindawi Limited. - 1059-7794. ; 34:6, s. 801-811
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Tidskriftsartikel (refereegranskat)abstract
- Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare and lethal developmental disorder of the lung defined by a constellation of characteristic histopathological features. Nonpulmonary anomalies involving organs of gastrointestinal, cardiovascular, and genitourinary systems have been identified in approximately 80% of patients with ACD/MPV. We have collected DNA and pathological samples from more than 90 infants with ACD/MPV and their family members. Since the publication of our initial report of four point mutations and 10 deletions, we have identified an additional 38 novel nonsynonymous mutations of FOXF1 (nine nonsense, seven frameshift, one inframe deletion, 20 missense, and one no stop). This report represents an up to date list of all known FOXF1 mutations to the best of our knowledge. Majority of the cases are sporadic. We report four familial cases of which three show maternal inheritance, consistent with paternal imprinting of the gene. Twenty five mutations (60%) are located within the putative DNA-binding domain, indicating its plausible role in FOXF1 function. Five mutations map to the second exon. We identified two additional genic and eight genomic deletions upstream to FOXF1. These results corroborate and extend our previous observations and further establish involvement of FOXF1 in ACD/MPV and lung organogenesis.
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| 2. |
- Benjamin, Bolduc, et al.
(författare)
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The IsoGenie database : an interdisciplinary data management solution for ecosystems biology and environmental research
- 2020
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Ingår i: PeerJ. - : PeerJ. - 2167-8359. ; 8
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Tidskriftsartikel (refereegranskat)abstract
- Modern microbial and ecosystem sciences require diverse interdisciplinary teams that are often challenged in “speaking” to one another due to different languages and data product types. Here we introduce the IsoGenie Database (IsoGenieDB; https://isogenie-db.asc.ohio-state.edu/), a de novo developed data management and exploration platform, as a solution to this challenge of accurately representing and integrating heterogenous environmental and microbial data across ecosystem scales. The IsoGenieDB is a public and private data infrastructure designed to store and query data generated by the IsoGenie Project, a ~10 year DOE-funded project focused on discovering ecosystem climate feedbacks in a thawing permafrost landscape. The IsoGenieDB provides (i) a platform for IsoGenie Project members to explore the project’s interdisciplinary datasets across scales through the inherent relationships among data entities, (ii) a framework to consolidate and harmonize the datasets needed by the team’s modelers, and (iii) a public venue that leverages the same spatially explicit, disciplinarily integrated data structure to share published datasets. The IsoGenieDB is also being expanded to cover the NASA-funded Archaea to Atmosphere (A2A) project, which scales the findings of IsoGenie to a broader suite of Arctic peatlands, via the umbrella A2A Database (A2A-DB). The IsoGenieDB’s expandability and flexible architecture allow it to serve as an example ecosystems database.
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| 3. |
- Martin, Katherine Riley, et al.
(författare)
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Real World Observations Using Virtual Reality Treatments for Anxiety and Related Disorders
- 2018
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- This session will present recent advances in virtual reality therapy for depression, anxiety, and related disorders. Many of these advances are a result of a boom in personal consumer electronics. We will discuss both stationary (e.g. Virtually Better, Oculus Rift) and mobile (e.g. Samsung Gear) systems along with new stimuli and capture techniques. Together, these advances improve the efficacy and availability of high tech solutions to previous obstacles in the delivery of cognitive behavioral therapy. The first presentation is a randomized controlled trial of therapist and internet administered one-session virtual reality exposure therapy for public speaking anxiety. The second presentation is an Individual Patient Data Meta-Analysis (IPDMA) of 35 virtual reality studies with 846 patients. Outcome data include overall findings and deterioration rates along with moderators. The third presentation will describe the relationship between posttraumatic and depressive symptoms during virtual reality exposure therapy with a cognitive enhancer. The fourth presentation describes a study that examined the feasibility and efficacy of VRE in treating MST-related PTSD. The fifth presentation will discuss a randomized controlled trial of animated versus live action virtual reality therapy for anxiety & pain in a Level I Trauma Center. Finally, the discussant, who has decades of experience in the field of VRET, will cover implications and future directions in the field of VR in the treatment of mental disorders.
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