Recent studies have suggested that loss-of-function mutations of the tunica intima endothelial receptor tyrosine kinase (TEK) are responsible for approximately 5% of primary congenital glaucoma (PCG) ...cases in diverse populations. However, the causative role of TEK mutations has not been studied in Chinese PCG patients. Here, we report the mutation spectrum of TEK after screening a large cohort of PCG patients of Chinese Han origin and analyze the identified variants in functional assays.
TEK-targeted next-generation sequencing (NGS) was performed in 200 PCG patients. Candidate variants were prioritized by mutation type and allele frequency in public datasets. Plasmids containing wild type and identified variants of TEK were constructed and used to assess protein expression, solubility, receptor auto-phosphorylation, and response to ligand stimulation in cell-based assays.
Ten missense and one nonsense heterozygous variants were detected by NGS in 11 families. The clinical features of TEK variants carriers were comparable to that of TEK-mutated patients identified in other populations and CYP1B1-mutated individuals from in-house database. Functional analysis confirmed four variants involving evolutionarily conserved residues to be loss-of-function, while one variant (p.R1003H) located in tyrosine kinase domain seemed to be an activating mutation. However, our results did not support the pathogenicity of the other five variants (p.H52R, p.M131I, p.M228V, p.H494Y, and p.L888P).
We provide evidence for TEK variants to be causative in Chinese PCG patients for the first time. Attention needs to be paid to TEK mutations in future genetic testing.
In this study, it was aimed to translate Preference for Solitude Scale developed by Burger (1995) into Turkish and to perform validity and reliability study on university students. The validity and ...reliability studies of the scale was carried out on two different participant groups. The first group was composed of 245 (24.1% male and 75.9% female) and the second group was consisted of 470 (30.2% male and 69.8% female) university students. The results of confirmatory factor analyses in two separate studies showed that the Turkish Form of the scale was composed of 12 items and one dimension as in the original study. According to the reliability studies performed, the Turkish Form of the scale has acceptable internal consistency coefficients and test-retest reliability.
•We have monitored a Spanish octopus fishery by using GPS-loggers and logbooks.•We have also used the knowledge of octopus fishermen to map their fishing grounds.•Annually, 700 vessels use traps to ...catch 2000t of octopus that are sold for 13M €.•The 174km2 of fishing grounds identified were the most fished and valuable areas.•Creation of a long term co-management plan is recommended to ensure sustainability.
The fishery of octopus Octopus vulgaris in Galicia (NW Spain) is a paradigmatic example of top–down management that generates conflicts between fishermen and policy makers. In the absence of scientific information to support the management of this data poor artisanal fishery, the traditional ecological knowledge (TEK) of fishermen was tested to map the distribution of fishing grounds and GPS data-loggers and log-books in order to estimate the intensity of effort and CPUE. Furthermore, a description of the social, technical and ecological features of the fishery was obtained to be used in conjunction with the results of questionnaires answered by experts, to improve the current management and to ensure the long-term sustainability of one of the most traditional and economically relevant fisheries in Galicia. Approximately, 700 vessels use traps in Galician coastal waters to catch 2000t of octopus annually, with a market value of 13M Є. Octopus vessels also use gillnets, hooks and lines and shellfish gathering to target common spider crab Maja brachydactyla, goose barnacle Pollicipes pollicipes and other species. The fishermen operating in the study area of the Ría of Arousa identified 174km2 of octopus fishing grounds, mainly distributed in the mid and outer parts of the study area. The fishing effort was exerted on the same rocky reefs, also the most valuable fishing grounds in terms of CPUE. The use of new techniques and tools based on participatory models is encouraged to obtain cost-effective information of this fishery and in general of other fisheries in data poor environments. Likewise, the creation of a long-term co-management plan is recommended to ensure the sustainability of stocks and the profitability of this artisanal fleet.
Ivan Cankar je socialno empatijo – zmožnost za globlje razumevanje ljudi, predvsem njihovih razlik in (ne)enakovrednosti – v svojem drugem romanu Na klancu (1902) izrazil s pomočjo socialističnih ...stališč in prepričanj. Na klancu je prvi simbolistični roman na Slovenskem, v katerem je izvirna poetika, tj. mešanica realizma, naturalizma in simbolizma, izrazila socialne, politične in filozofske ideje s »silnimi sredstvi lepote«. Čeprav glavni liki, to so Francka, Tone in Lojze, le redko razmišljajo socialistično, je treba za celotno sporočilno vrednost romana upoštevati tudi ostale like, na primer pisarja in čevljarja ter nadute vrhniške meščane, predvsem pa simbole. Izvrstna struktura romana nas napelje na dve možnosti izbire za ponižane in razžaljene: prva je individualna rešitev socialnih krivic z dobrodelnostjo, druga pa sistemska sprememba krivične družbe v pravičnejšo. Prva je z marijanskim kultom matere Francke in njenim otroškim upanjem v dobrodelnost bogatih skozi celoten roman izpeljana parabolično, da se potrdi deterministična teza, kako zgolj dobrodelnost za dostojno življenje reveža ni dovolj. Ker je tovrstna individualna rešitev le rezultat sreče – ponazarjata jo simbola klanca kot univerzalnega prostora kapitalističnega izkoriščanja ljudi in tek za vozom –, je v romanu ponujena še druga možnost, ki je simbolistična socialistična vizija (delavske) prihodnosti: sistemska rešitev, torej kolektivna sprememba kapitalizma, nakazana s simbolom odrešilne rdeče iskre, razplamtene v belo svetlobo. Bolj kot natančno določanje meja med različnimi vrstami Cankarjevega socializma se mi zdi v obravnavanem romanu pomembno opozoriti na eklektičnost umetnikovega socializma, torej na prepletenost različnih vrst socializma s socialno demokracijo, drugimi gibanji in lastnimi idejami. Na to opozarjata že sama fragmentarnost Cankarjevega miselnega sistema in znano dejstvo, da je bil avtor izredno kompleksna osebnost, pri kateri je vsakršno shematično poenostavljanje nedopustno.
Community-based research with the Bad River Band of Lake Superior Ojibwe in northern Wisconsin illustrated that Water stewardship is an organizing practice, value-laden, that brings together tribal ...and non-tribal people. Lead author Conaway collaborated over four years with tribal members to create a network of university, natural resource agency, and indigenous experts. Ojibwe co-author Leoso provided expertise in protocols and traditional knowledge. We worked in community Water stewardship from concept to the dissemination of durable products of which the tribe took ownership. This article focuses on methodology for outsiders working in Indian country, emphasizing indigenous research methods, and culminating in a case study of Water stewardship that incorporates Native and Western science. A local Anishinaabemowin version of traditional ecological knowledge (TEK) is highlighted: mino bimaadiziwin, "living in a good way." Interviews with Bad River adults and Talking Circles with youth indicated that Ojibwe identity and value systems are bound to Water, shedding light on intangible dimensions of TEK. Water-based harvests, stewardship, sovereignty, and worldviews constitute an Ojibwe Water schema, Water TEK. We demonstrate that the vulnerability and resilience of Water and cultural traditions are intertwined.
Indigeneity, Science, and Difference Law, John; Joks, Solveig
Science, technology & human values/Science, technology, & human values,
05/2019, Letnik:
44, Številka:
3
Journal Article
Recenzirano
Odprti dostop
This paper explores a colonial controversy: the imposition of state rules to limit salmon fishing in a Scandinavian subarctic river. These rules reflect biological fish population models intended to ...preserve salmon populations, but this river has also been fished for centuries by indigenous Sámi people who have their own different practices and knowledges of the river and salmon. In theory, the Norwegian state recognizes traditional ecological knowledge and includes this in its biological assessments, but in practice this does not happen, so Sámi fishing practices and the realities that they enact are disappearing. This paper explores how to conceptualize colonial differences in knowing. Drawing on recent anthropology, it asks how (scientific) “settler” and (Sámi) “nomadic” enact worlds and their realities, suggesting that, unlike the latter, the former create a single reality intolerant of alternatives. The focus is thus on a “politics of how” and the ways in which colonial realities and knowledges might intersect less destructively.
After a century of fire suppression and accumulating fuel loads in North American forests, prescribed burns are increasingly used to prevent conditions leading to catastrophic megafire. There is ...widespread evidence that prescribed fire was used by Indigenous communities to manage natural and cultural resources for thousands of years. Wildlife habitat is an example of an ecological response that was actively managed with prescribed burns by Indigenous American peoples and is an important factor in western US forest management planning, restoration and climate resilience efforts.
We analysed the effects of modern prescribed burns informed by traditional ecological knowledge (TEK) on the predicted change in elk winter habitat in Karuk aboriginal territory in Northern California between 2013 and 2018 using species distribution and simultaneous autoregressive modelling techniques.
Burn types most closely resembling Karuk traditional practices, specifically those incorporating multiple‐year broadcast burns, had significant positive effects on elk winter habitat suitability. Conversely, concentrated burns focused solely on reducing fuel loads had significant negative effects on elk winter habitat suitability. However, areas where these fuel‐reduction burns were combined with multiple years of broadcast burns featured the highest increases in habitat.
Synthesis and applications. Our results suggest that transitioning to prescribed burns that more closely follow Karuk traditional ecological knowledge will promote elk habitat in the region. This would be best achieved through continuing to work closely with Indigenous representatives to plan and implement cultural fire prescriptions on a landscape scale, a trend we posit would benefit environmental management efforts across the globe.
Our results suggest that transitioning to prescribed burns that more closely follow Karuk traditional ecological knowledge will promote elk habitat in the region. This would be best achieved through continuing to work closely with Indigenous representatives to plan and implement cultural fire prescriptions on a landscape scale, a trend we posit would benefit environmental management efforts across the globe.
Angiopoietin/TIE signalling plays a major role in blood and lymphatic vessel development. In mouse,
(previously known as
) mutants die prenatally due to a severely underdeveloped cardiovascular ...system. In contrast, in zebrafish, previous studies have reported that although embryos injected with
morpholinos (MOs) exhibit severe vascular defects,
mutants display no obvious vascular malformations. To further investigate the function of zebrafish Tek, we generated a panel of loss-of-function
mutants, including RNA-less alleles, an allele lacking the MO-binding site, an in-frame deletion allele and a premature termination codon-containing allele. Our data show that all these mutants survive to adulthood with no obvious cardiovascular defects. MO injections into
mutants lacking the MO-binding site or the entire
locus cause similar vascular defects to those observed in MO-injected
siblings, indicating off-target effects of the MOs. Surprisingly, comprehensive phylogenetic profiling and synteny analyses reveal that
was lost in the largest teleost clade, suggesting a lineage-specific shift in the function of TEK during vertebrate evolution. Altogether, these data show that Tek is dispensable for zebrafish development, and probably dispensable in most teleost species.
Amelia F, Iskandar J, Partasasmita R, Malone N. 2018. Recognizing indigenous knowledge of the Karangwangi Rural Landscape in South Cianjur, Indonesia for sustainable land management. Biodiversitas ...19: 1722-1729. Karangwangi is a rural community on the south coast of West Java, Indonesia. The people of Karangwangi possess traditional ecological knowledge (TEK) of local landscapes through cultural inheritance and personal experiences of interacting with their environment. The people of Karangwani Village recognize various natural-cultural landscape types, including leuweung (forest); swidden field (huma); wet rice fields (sawah); home garden (pekarangan); garden (kebun); mixed-garden (kebun campuran); river (sungai); and sea (laut). These various landscapes have continuously changed over time due to people’s socio-economic and cultural activities. The aim of this study was to develop an ethnoecological approach to elucidate historical changes to the Karangwangi landscapes. Toward this aim, we conducted mixed-method, qualitative and quantitative research. In addition to recognizing the various types of cultural and natural landscapes, the local people of Karangwangi are able to describe the history of landscape changes between 1950 to 2017. As identified by informants, these changes have been caused by various factors, including increases in population density, implementation of government policies and village development.
The fetal liver is a major hematopoietic site containing progenitor cells that give rise to nearly all blood cells, including B-1 cells. Because the fetal liver is not a de novo site of hematopoietic ...stem cell (HSC) or progenitor-cell emergence, it must be seeded by yolk sac (YS)-derived erythromyeloid progenitors at embryonic day (E) 8.5–E10 and aorta-gonado-mesonephros (AGM)-derived HSCs at E10.5–E11.5. Although the B-1 progenitor cell pool in the fetal liver is considered to be of HSC origin, we have previously proposed that YS-derived B-1 progenitors may also contribute to this pool. Until now, it has been impossible to determine whether HSC-independent B-1 progenitor cells exist in the fetal liver. Here, we demonstrate the presence of transplantable fetal-liver B-1 and marginal zone B progenitor cells in genetically engineered HSC-deficient embryos. HSC-deficient YS and AGM tissues produce B-1 progenitors in vitro and thus may serve as sites of origin for the B-1 progenitors that seed the fetal liver. Furthermore, we have found that core-binding factor beta (Cbfβ) expression is required for fetal-liver B-1 progenitor cell maturation and expansion. Our data provide, to our knowledge, the first evidence for the presence of B-1 progenitor cells in the fetal liver that arise independently of HSCs and implicate Cbfβ as a critical molecule in the development of this lineage.