101 research outputs found

    Solar Wind Turbulence and the Role of Ion Instabilities

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    SLC26A1 is a major determinant of sulfate homeostasis in humans

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    Sulfate plays a pivotal role in numerous physiological processes in the human body, including bone and cartilage health. A role of the anion transporter SLC26A1 (Sat1) for sulfate reabsorption in the kidney is supported by the observation of hyposulfatemia and hypersulfaturia in Slc26a1-knockout mice. The impact of SLC26A1 on sulfate homeostasis in humans remains to be defined. By combining clinical genetics, functional expression assays, and population exome analysis, we identify SLC26A1 as a sulfate transporter in humans and experimentally validate several loss-of-function alleles. Whole-exome sequencing from a patient presenting with painful perichondritis, hyposulfatemia, and renal sulfate wasting revealed a homozygous mutation in SLC26A1, which has not been previously described to the best of our knowledge. Whole-exome data analysis of more than 5,000 individuals confirmed that rare, putatively damaging SCL26A1 variants were significantly associated with lower plasma sulfate at the population level. Functional expression assays confirmed a substantial reduction in sulfate transport for the SLC26A1 mutation of our patient, which we consider to be novel, as well as for the additional variants detected in the population study. In conclusion, combined evidence from 3 complementary approaches supports SLC26A1 activity as a major determinant of sulfate homeostasis in humans. In view of recent evidence linking sulfate homeostasis with back pain and intervertebral disc disorder, our study identifies SLC26A1 as a potential target for modulation of musculoskeletal health

    Licófitas e monilófitas das Unidades de Conservação da Usina Hidroelétrica - UHE de Tucuruí, Pará, Brasil

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    Pteridófitas da Serra Negra, Minas Gerais, Brasil

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    Este trabalho apresenta uma lista de espécies de pteridófitas que ocorrem na Serra Negra, Minas Gerais. A serra está inserida no complexo da Serra da Mantiqueira situada entre Rio Preto, Lima Duarte, Santa Bárbara do Monte Verde e Olaria, tendo seus limites nos pontos 21º58'11"S 43º53'21" W, 22º01'46,4" S 43º52'31,5" W, 21º58'21,4" S 43º50'06,5" W e 21º58'53" S 43º56'08" W. A vegetação da serra é formada por um mosaico de fitofisionomias, sendo encontradas formações florestais (florestas ombrófilas e semidecíduas) e campestres (campos rupestres). O inventário florístico foi realizado entre os anos de 2003 e 2008, em excursões mensais para coleta de amostras e registro de dados. Na serra foram registradas 209 táxons infragenéricos distribuídas em 24 famílias e 75 gêneros. As famílias com maior número de espécies foram Polypodiaceae (40), Dryopteridaceae (33) e Pteridaceae (25). A maioria das espécies (109) foi encontrada ocorrendo exclusivamente no interior de floresta. Em relação ao hábito, 69 espécies foram encontradas exclusivamente como terrestres, 37 como rupícolas ou terrestres e 32 exclusivamente epífitas. Este trabalho revela uma elevada riqueza de pteridófitas na região e indica a importância de estudos desta natureza na conservação e manejo das pteridófitas em Minas Gerais.This work presents an inventory of pteridophyte species that occur in the Serra Negra, of Minas Gerais. The area is part of the Mantiqueira Range, and is situated between the coordinates 21º58'11"S 43º53'21" W, 22º01'4.4" S, 43º52'31.5" W, 21º58'21.4" S, 43º50'06.5" W and 21º58'53" S, 43º56'08" W. The vegetation in the Serra Negra is characterized by a mosaic of different phytophysiognomies, divided into forests (evergreen and seasonal semideciduous forests) and open formations (rocky grasslands). The inventory was carried out from 2003 to 2008, during monthly excursions to collect botanical material and data in the study area. A total of 209 species, distributed in 24 families and 75 genera, were recorded. The families with the highest number of species were Polypodiaceae (40), Dryopteridaceae (33) and Pteridaceae (25). More than the half (110) of the inventoried species were recorded exclusively in the forests formations. Sixty-nine species were terrestrial, 37 were saxicolous or terrestrial and 32 were epiphytes. This work shows that this region is rich in ferns and reveals the importance of this kind of study for conservation and management of pteridophytes in the state of Minas Gerais
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