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  • 1
    Online Resource
    Online Resource
    Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH
    Springer Science and Business Media LLC ; 2021
    In:  Genome Medicine Vol. 13, No. 1 ( 2021-12)
    Details
    In: Genome Medicine, Springer Science and Business Media LLC, Vol. 13, No. 1 ( 2021-12)
    Abstract: Pulmonary arterial hypertension (PAH) is a lethal vasculopathy characterized by pathogenic remodeling of pulmonary arterioles leading to increased pulmonary pressures, right ventricular hypertrophy, and heart failure. PAH can be associated with other diseases (APAH: connective tissue diseases, congenital heart disease, and others) but often the etiology is idiopathic (IPAH). Mutations in bone morphogenetic protein receptor 2 ( BMPR2 ) are the cause of most heritable cases but the vast majority of other cases are genetically undefined. Methods To identify new risk genes, we utilized an international consortium of 4241 PAH cases with exome or genome sequencing data from the National Biological Sample and Data Repository for PAH, Columbia University Irving Medical Center, and the UK NIHR BioResource – Rare Diseases Study. The strength of this combined cohort is a doubling of the number of IPAH cases compared to either national cohort alone. We identified protein-coding variants and performed rare variant association analyses in unrelated participants of European ancestry, including 1647 IPAH cases and 18,819 controls. We also analyzed de novo variants in 124 pediatric trios enriched for IPAH and APAH-CHD. Results Seven genes with rare deleterious variants were associated with IPAH with false discovery rate smaller than 0.1: three known genes ( BMPR2 , GDF2 , and TBX4 ), two recently identified candidate genes ( SOX17 , KDR ), and two new candidate genes (fibulin 2, FBLN2 ; platelet-derived growth factor D, PDGFD ). The new genes were identified based solely on rare deleterious missense variants, a variant type that could not be adequately assessed in either cohort alone. The candidate genes exhibit expression patterns in lung and heart similar to that of known PAH risk genes, and most variants occur in conserved protein domains. For pediatric PAH, predicted deleterious de novo variants exhibited a significant burden compared to the background mutation rate (2.45×, p = 2.5e−5). At least eight novel pediatric candidate genes carrying de novo variants have plausible roles in lung/heart development. Conclusions Rare variant analysis of a large international consortium identified two new candidate genes— FBLN2 and PDGFD . The new genes have known functions in vasculogenesis and remodeling. Trio analysis predicted that ~ 15% of pediatric IPAH may be explained by de novo variants.
    Type of Medium: Online Resource
    ISSN: 1756-994X
    URL: Article
    DOI: 10.1186/s13073-021-00891-1
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2021
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  • 2
    Online Resource
    Online Resource
    Editorial
    Intellect ; 2023
    In:  Metal Music Studies Vol. 9, No. 2 ( 2023-06-01), p. 147-150
    Details
    In: Metal Music Studies, Intellect, Vol. 9, No. 2 ( 2023-06-01), p. 147-150
    Abstract: Issue 9.2 sees the light following an active summer for the field of metal music studies. During 6–9 June 2023, the International Society for Metal Music Studies held its 6th Biennial Research Conference in Montreal, Canada. The event was organized by Dr Vivek Venkatesh and his team at Concordia University. The issue’s main section includes five articles addressing the topics of stadium rock, the identity construction of famous metal guitarists, the idea of heaviness, symphonic metal’s appropriation of the Baroque, and the creation of a metal scene in Bandung, Indonesia. The issue includes reviews for books on references to Nazism in popular music, the visual dimensions of metal battle jackets, and Mercyful Fate’s 1984 album Don’t Break the Oath .
    Type of Medium: Online Resource
    ISSN: 2052-3998 , 2052-4005
    URL: Article
    DOI: 10.1386/mms_00102_2
    Language: English
    Publisher: Intellect
    Publication Date: 2023
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  • 3
    Online Resource
    Online Resource
    Editorial
    Intellect ; 2022
    In:  Metal Music Studies Vol. 8, No. 3 ( 2022-09-01), p. 289-291
    Details
    In: Metal Music Studies, Intellect, Vol. 8, No. 3 ( 2022-09-01), p. 289-291
    Abstract: Welcome to issue 8.3 of Metal Music Studies . We dedicate this issue to the memory of Esther Clinton.
    Type of Medium: Online Resource
    ISSN: 2052-3998 , 2052-4005
    URL: Article
    DOI: 10.1386/mms_00081_2
    Language: English
    Publisher: Intellect
    Publication Date: 2022
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  • 4
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    Online Resource
    SECAI – Sustainable Heating through Edge-Cloud-based AI Systems
    Springer Fachmedien Wiesbaden GmbH ; 2023
    In:  HMD Praxis der Wirtschaftsinformatik Vol. 60, No. 4 ( 2023-08), p. 850-871
    Details
    In: HMD Praxis der Wirtschaftsinformatik, Springer Fachmedien Wiesbaden GmbH, Vol. 60, No. 4 ( 2023-08), p. 850-871
    Abstract: Approximately 18% of CO2 emissions in Germany are caused by the heating, cooling and hot water supply of buildings, with more than 75% of households using fossil fuels such as natural gas and oil. The SECAI (Sustainable heating through Edge-Cloud-based Artificial Intelligence Systems) approach presented in this paper aims to reduce heating control in multi-residential buildings, and thus CO2 consumption, through the use of information technology. The SECAI approach considers the entire ecosystem consisting of sensors, individual room controls, central heating, tenants and landlords. This involves an AI-based analysis of the heating requirements of private apartments, based on which optimized and coordinated heating plans can be created for building complexes. Edge cloud technologies, sensor technology and federated learning enable these plans to react ad hoc and in compliance with data protection regulations to changes in usage behavior. The information is also used for AI-based control of the central heating systems within the building, where heating and hot water are generated for all apartments. For this purpose, SECAI considers four layers. These range from sensors and actuators (nano), to the apartment (micro), to the building (meso), to building complexes and same-type buildings (macro), and are highly interdependent. A complex ecosystem is being created around the SECAI solution in which tenants, the housing industry, heating manufacturers and providers of IoT solutions interact with products and services.
    Type of Medium: Online Resource
    ISSN: 1436-3011 , 2198-2775
    URL: Article
    DOI: 10.1365/s40702-023-00988-8
    RVK:
    ST 110
    RVK:
    QH 500
    RVK:
    SS 1300
    RVK:
    SQ 1100
    RVK:
    QP 345
    Language: German
    Publisher: Springer Fachmedien Wiesbaden GmbH
    Publication Date: 2023
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    SSG: 3,2
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  • 5
    Online Resource
    Online Resource
    A multispecies approach to manage effects of land cover and weather on upland game birds
    Wiley ; 2020
    In:  Ecology and Evolution Vol. 10, No. 24 ( 2020-12), p. 14330-14345
    Details
    In: Ecology and Evolution, Wiley, Vol. 10, No. 24 ( 2020-12), p. 14330-14345
    Abstract: Loss and degradation of grasslands in the Great Plains region have resulted in major declines in abundance of grassland bird species. To ensure future viability of grassland bird populations, it is crucial to evaluate specific effects of environmental factors among species to determine drivers of population decline and develop effective conservation strategies. We used threshold models to quantify the effects of land cover and weather changes in "lesser prairie‐chicken" and "greater prairie‐chicken" ( Tympanuchus pallidicinctus and T. cupido , respectively), northern bobwhites ( Colinus virginianus ), and ring‐necked pheasants ( Phasianus colchicus ). We demonstrated a novel approach for estimating landscape conditions needed to optimize abundance across multiple species at a variety of spatial scales. Abundance of all four species was highest following wet summers and dry winters. Prairie chicken and ring‐necked pheasant abundance was highest following cool winters, while northern bobwhite abundance was highest following warm winters. Greater prairie chicken and northern bobwhite abundance was also highest following cooler summers. Optimal abundance of each species occurred in landscapes that represented a grassland and cropland mosaic, though prairie chicken abundance was optimized in landscapes with more grassland and less edge habitat than northern bobwhites and ring‐necked pheasants. Because these effects differed among species, managing for an optimal landscape for multiple species may not be the optimal scenario for any one species.
    Type of Medium: Online Resource
    ISSN: 2045-7758 , 2045-7758
    URL: Issue
    URL: Article
    DOI: 10.1002/ece3.v10.24
    DOI: 10.1002/ece3.7034
    Language: English
    Publisher: Wiley
    Publication Date: 2020
    detail.hit.zdb_id: 2635675-2
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  • 6
    Online Resource
    Online Resource
    Stroke genetics informs drug discovery and risk prediction across ancestries
    Springer Science and Business Media LLC ; 2022
    In:  Nature Vol. 611, No. 7934 ( 2022-11-03), p. 115-123
    Details
    In: Nature, Springer Science and Business Media LLC, Vol. 611, No. 7934 ( 2022-11-03), p. 115-123
    Abstract: Previous genome-wide association studies (GWASs) of stroke — the second leading cause of death worldwide — were conducted predominantly in populations of European ancestry 1,2 . Here, in cross-ancestry GWAS meta-analyses of 110,182 patients who have had a stroke (five ancestries, 33% non-European) and 1,503,898 control individuals, we identify association signals for stroke and its subtypes at 89 (61 new) independent loci: 60 in primary inverse-variance-weighted analyses and 29 in secondary meta-regression and multitrait analyses. On the basis of internal cross-ancestry validation and an independent follow-up in 89,084 additional cases of stroke (30% non-European) and 1,013,843 control individuals, 87% of the primary stroke risk loci and 60% of the secondary stroke risk loci were replicated ( P   〈  0.05). Effect sizes were highly correlated across ancestries. Cross-ancestry fine-mapping, in silico mutagenesis analysis 3 , and transcriptome-wide and proteome-wide association analyses revealed putative causal genes (such as SH3PXD2A and FURIN ) and variants (such as at GRK5 and NOS3 ). Using a three-pronged approach 4 , we provide genetic evidence for putative drug effects, highlighting F11, KLKB1, PROC, GP1BA, LAMC2 and VCAM1 as possible targets, with drugs already under investigation for stroke for F11 and PROC. A polygenic score integrating cross-ancestry and ancestry-specific stroke GWASs with vascular-risk factor GWASs (integrative polygenic scores) strongly predicted ischaemic stroke in populations of European, East Asian and African ancestry 5 . Stroke genetic risk scores were predictive of ischaemic stroke independent of clinical risk factors in 52,600 clinical-trial participants with cardiometabolic disease. Our results provide insights to inform biology, reveal potential drug targets and derive genetic risk prediction tools across ancestries.
    Type of Medium: Online Resource
    ISSN: 0028-0836 , 1476-4687
    URL: Article
    DOI: 10.1038/s41586-022-05165-3
    RVK:
    TA 1000
    RVK:
    UA 1000
    RVK:
    WA 15000
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2022
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    detail.hit.zdb_id: 1413423-8
    SSG: 11
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  • 7
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    Online Resource
    Maternal and Newborn Hospital Outcomes of Perinatal SARS-CoV-2 Infection: A National Registry
    American Academy of Pediatrics (AAP) ; 2023
    In:  Pediatrics Vol. 151, No. 2 ( 2023-02-01)
    Details
    In: Pediatrics, American Academy of Pediatrics (AAP), Vol. 151, No. 2 ( 2023-02-01)
    Abstract: The American Academy of Pediatrics National Registry for the Surveillance and Epidemiology of Perinatal coronavirus disease 2019 (COVID-19) (NPC-19) was developed to provide information on the effects of perinatal severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. METHODS National Registry for the Surveillance and Epidemiology of Perinatal COVID-19 participating centers entered maternal and newborn data for pregnant persons who tested positive for SARS-CoV-2 infection between 14 days before and 10 days after delivery. Incidence of and morbidities associated with maternal and newborn SARS-CoV-2 infection were assessed. RESULTS From April 6, 2020 to March 19, 2021, 242 centers in the United States centers reported data for 7524 pregnant persons; at the time of delivery, 78.1% of these persons were asymptomatic, 18.2% were symptomatic but not hospitalized specifically for COVID-19, 3.4% were hospitalized for COVID-19 treatment, and 18 (0.2%) died in the hospital of COVID-related complications. Among 7648 newborns, 6486 (84.8%) were tested for SARS-CoV-2, and 144 (2.2%) were positive; the highest rate of newborn infection was observed when mothers first tested positive in the immediate postpartum period (17 of 125, 13.6%). No newborn deaths were attributable to SARS-CoV-2 infection. Overall, 15.6% of newborns were preterm: among tested newborns, 30.1% of polymerase chain reaction-positive and 16.2% of polymerase chain reaction-negative were born preterm (P & lt; .001). Need for mechanical ventilation did not differ by newborn SARS-CoV-2 test result, but those with positive tests were more likely to be admitted to a NICU. CONCLUSIONS Early in the pandemic, SARS-CoV-2 infection was acquired by newborns at variable rates and without apparent short-term effects. During a period that preceded widespread availability of vaccines, we observed higher than expected numbers of preterm births and maternal in-hospital deaths.
    Type of Medium: Online Resource
    ISSN: 0031-4005 , 1098-4275
    URL: Article
    DOI: 10.1542/peds.2022-059595
    Language: English
    Publisher: American Academy of Pediatrics (AAP)
    Publication Date: 2023
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  • 8
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    Online Resource
    "Emo: How fans defined a subculture," by Judith May Fathallah
    Transformative Works and Cultures ; 2022
    In:  Transformative Works and Cultures Vol. 37 ( 2022-03-14)
    Details
    In: Transformative Works and Cultures, Transformative Works and Cultures, Vol. 37 ( 2022-03-14)
    Type of Medium: Online Resource
    ISSN: 1941-2258
    URL: Article
    DOI: 10.3983/twc.2022.2237
    Language: Unknown
    Publisher: Transformative Works and Cultures
    Publication Date: 2022
    detail.hit.zdb_id: 2715359-9
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  • 9
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    Online Resource
    Parallel Computation of Piecewise Linear Morse-Smale Segmentations
    Institute of Electrical and Electronics Engineers (IEEE) ; 2023
    In:  IEEE Transactions on Visualization and Computer Graphics
    Details
    In: IEEE Transactions on Visualization and Computer Graphics, Institute of Electrical and Electronics Engineers (IEEE)
    Type of Medium: Online Resource
    ISSN: 1077-2626 , 1941-0506 , 2160-9306
    URL: Article
    DOI: 10.1109/TVCG.2023.3261981
    RVK:
    SQ 1100
    Language: Unknown
    Publisher: Institute of Electrical and Electronics Engineers (IEEE)
    Publication Date: 2023
    detail.hit.zdb_id: 2027333-2
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  • 10
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    Online Resource
    Limited diagnostic impact of duplications 〈1 Mb of uncertain clinical significance: a 10-year retrospective analysis of reporting practices at the Mayo Clinic
    Elsevier BV ; 2020
    In:  Genetics in Medicine Vol. 22, No. 12 ( 2020-12), p. 2120-2124
    Details
    In: Genetics in Medicine, Elsevier BV, Vol. 22, No. 12 ( 2020-12), p. 2120-2124
    Type of Medium: Online Resource
    ISSN: 1098-3600
    URL: Article
    DOI: 10.1038/s41436-020-0932-0
    Language: English
    Publisher: Elsevier BV
    Publication Date: 2020
    detail.hit.zdb_id: 2063504-7
    SSG: 12
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