| 1. |
- Loth, Daan W, et al.
(författare)
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Genome-wide association analysis identifies six new loci associated with forced vital capacity
- 2014
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 46, s. 669-677
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Tidskriftsartikel (refereegranskat)abstract
- Forced vital capacity (FVC), a spirometric measure of pulmonary function, reflects lung volume and is used to diagnose and monitor lung diseases. We performed genome-wide association study meta-analysis of FVC in 52,253 individuals from 26 studies and followed up the top associations in 32,917 additional individuals of European ancestry. We found six new regions associated at genome-wide significance (P < 5 × 10(-8)) with FVC in or near EFEMP1, BMP6, MIR129-2-HSD17B12, PRDM11, WWOX and KCNJ2. Two loci previously associated with spirometric measures (GSTCD and PTCH1) were related to FVC. Newly implicated regions were followed up in samples from African-American, Korean, Chinese and Hispanic individuals. We detected transcripts for all six newly implicated genes in human lung tissue. The new loci may inform mechanisms involved in lung development and the pathogenesis of restrictive lung disease.
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| 2. |
- Alfredo Zambrano, José, et al.
(författare)
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Characterization of high Arabinoxylan oat lines identified from a mutagenized oat population
- 2023
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Ingår i: Food Chemistry. - : Elsevier BV. - 0308-8146. ; 404
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Tidskriftsartikel (refereegranskat)abstract
- Oat (Avena sativa) is a nutritionally important cereal crop that is rich in health-promoting dietary fibers, favorable proteins and polar lipids. In this work, ca. 500 random lines of a mutagenized oat population of high genetic variation were screened for arabinoxylan (AX) content. This identified lines with up to 60% higher AX levels in flour from whole seed and up to 100% higher in flour from dehulled seeds, as compared to the original Belinda variety. In addition, the cellular localization of AX was determined in cross-sections of dehulled seeds from three high and one low AX line using a xylan-specific antibody. This revealed variations in the amount and localization of AX between high and low AX lines. The high AX lines will now serve as a starting point in the development of oat varieties with superior health-promoting and rheological properties.
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| 3. |
- Majumdar, Abhinav, et al.
(författare)
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Macromolecular characterization of high β-glucan oat lines
- 2024
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Ingår i: Heliyon. - 2405-8440. ; 10:2
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Tidskriftsartikel (refereegranskat)abstract
- Oat (Avena sativa) is a cereal grain rich in fibers, proteins, vitamins and minerals. Oats have been linked to several health benefits, such as lowering blood cholesterol levels, counteracting cardiovascular disease and regulating blood sugar levels. This study aimed to characterize two new oat lines with high β-glucan content emanating from ethyl methyl sulphonate mutagenesis on the Lantmännen elite variety Belinda. Two of the mutated lines, and the mother variety Belinda, were profiled for β-glucan, arabinoxylan, total dietary fiber and starch composition. In addition, total lipid and protein content, amino acid composition and β-glucan molecular weights were analyzed. The high levels of β-glucan resulted in a significant increase in total dietary fiber, but no correlation could be established between higher or lower levels of the assayed macromolecules, i.e., between arabinoxylan-, starch-, lipid- or protein levels in the mutated lines compared to the reference. The results indicate separate biosynthetic pathways for β-glucans and other macromolecules and an independent regulation of the different polysaccharides studied. Therefore, ethyl methyl sulphonate mutagenesis can be used to increase levels of multiple macromolecules in the same line.
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| 7. |
- Butler, Geraldine, et al.
(författare)
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Evolution of pathogenicity and sexual reproduction in eight Candida genomes.
- 2009
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 459:7247, s. 657-62
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Tidskriftsartikel (refereegranskat)abstract
- Candida species are the most common cause of opportunistic fungal infection worldwide. Here we report the genome sequences of six Candida species and compare these and related pathogens and non-pathogens. There are significant expansions of cell wall, secreted and transporter gene families in pathogenic species, suggesting adaptations associated with virulence. Large genomic tracts are homozygous in three diploid species, possibly resulting from recent recombination events. Surprisingly, key components of the mating and meiosis pathways are missing from several species. These include major differences at the mating-type loci (MTL); Lodderomyces elongisporus lacks MTL, and components of the a1/2 cell identity determinant were lost in other species, raising questions about how mating and cell types are controlled. Analysis of the CUG leucine-to-serine genetic-code change reveals that 99% of ancestral CUG codons were erased and new ones arose elsewhere. Lastly, we revise the Candida albicans gene catalogue, identifying many new genes.
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| 8. |
- Thyagarajan, B, et al.
(författare)
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Parental perceptions of hypothermia treatment for neonatal hypoxic-ischaemic encephalopathy
- 2018
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Ingår i: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians. - : Informa UK Limited. - 1476-4954. ; 31:19, s. 2527-2533
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Tidskriftsartikel (refereegranskat)
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