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- Mansur, Andressa V., et al.
(author)
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Nature futures for the urban century : Integrating multiple values into urban management
- 2022
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In: Environmental Science and Policy. - : Elsevier BV. - 1462-9011 .- 1873-6416. ; 131, s. 46-56
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Journal article (peer-reviewed)abstract
- There is an emerging consensus that the health of the planet depends on the coexistence between rapidly growing cities and the natural world. One strategy for guiding cities towards sustainability is to facilitate a planning process based on positive visions for urban systems among actors and stakeholders. This paper presents the Urban Nature Futures Framework (UNFF), a framework for scenario building for cities that is based on three Nature Futures perspectives: Nature for Nature, Nature for Society, and Nature as Culture. Our framework engages stakeholders with envisioning the three Nature Futures perspectives through four components using participatory methods and quantitative models: identification of the socio-ecological feedbacks in cities, assessment of indirect impacts of cities on biodiversity, development of multi-scale indicators, and development of scenarios. Stakeholders in cities may use this framework to explore different options for integrating nature in its various manifestations within urban areas and to assess how different community preferences result in various cityscapes and distribution of associated benefits from nature among urban dwellers across multiple scales.
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- Sukalo, Maja, et al.
(author)
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Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum
- 2014
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In: Human Mutation. - : Hindawi Limited. - 1059-7794 .- 1098-1004. ; 35:5, s. 521-531
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Journal article (peer-reviewed)abstract
- Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental anomalies, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and anorectal anomalies, short stature, and cognitive impairment of variable degree. This syndrome is caused by a defect of the E3 ubiquitin ligase UBR1, which is part of the proteolytic N-end rule pathway. Herein, we review previously reported (n=29) and a total of 31 novel UBR1 mutations in relation to the associated phenotype in patients from 50 unrelated families. Mutation types include nonsense, frameshift, splice site, missense, and small in-frame deletions consistent with the hypothesis that loss of UBR1 protein function is the molecular basis of JBS. There is an association of missense mutations and small in-frame deletions with milder physical abnormalities and a normal intellectual capacity, thus suggesting that at least some of these may represent hypomorphic UBR1 alleles. The review of clinical data of a large number of molecularly confirmed JBS cases allows us to define minimal clinical criteria for the diagnosis of JBS. For all previously reported and novel UBR1 mutations together with their clinical data, a mutation database has been established at LOVD.
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