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- Auer-Grumbach, Michaela, et al.
(författare)
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Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies
- 2016
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Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 99:3, s. 607-623
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Tidskriftsartikel (refereegranskat)abstract
- Axonal polyneuropathies are a frequent cause of progressive disability in the elderly. Common etiologies comprise diabetes mellitus, paraproteinaemia, and inflammatory disorders, but often the underlying causes remain elusive. Late-onset axonal Charcot-Marie-Tooth neuropathy (CMT2) is an autosomal-dominantly inherited condition that manifests in the second half of life and is genetically largely unexplained. We assumed age-dependent penetrance of mutations in a so far unknown gene causing late-onset CMT2. We screened 51 index case subjects with late-onset CMT2 for mutations by whole-exome (WES) and Sanger sequencing and subsequently queried WES repositories for further case subjects carrying mutations in the identified candidate gene. We studied nerve pathology and tissue levels and function of the abnormal protein in order to explore consequences of the mutations. Altogether, we observed heterozygous rare loss-of-function and missense mutations in MME encoding the metalloprotease neprilysin in 19 index case subjects diagnosed with axonal polyneuropathies or neurodegenerative conditions involving the peripheral nervous system. MME mutations segregated in an autosomal-dominant fashion with age-related incomplete penetrance and some affected individuals were isolated case subjects. We also found that MME mutations resulted in strongly decreased tissue availability of neprilysin and impaired enzymatic activity. Although neprilysin is known to degrade beta-amyloid, we observed no increased amyloid deposition or increased incidence of dementia in individuals with MME mutations. Detection of MME mutations is expected to increase the diagnostic yield in late-onset polyneuropathies, and it will be tempting to explore whether substances that can elevate neprilysin activity could be a rational option for treatment.
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| 2. |
- Guo, Zhiming, et al.
(författare)
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Quantitative detection of apple watercore and soluble solids content by near infrared transmittance spectroscopy
- 2020
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Ingår i: Journal of Food Engineering. - : ELSEVIER SCI LTD. - 0260-8774 .- 1873-5770. ; 279
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Tidskriftsartikel (refereegranskat)abstract
- Near-infrared (NIR) spectroscopy as an emerging analytical technique was used for the first time to quantitatively detect the watercore degree and soluble solids content (SSC) in apple. To reduce the data processing time and meet the needs of practical application, the variable selection methods including synergy interval (SI), successive projections algorithm (SPA), genetic algorithm (GA) and competitive adaptive reweighted sampling (CARS) were used to identify the characteristic variables and simplify the models. The spectral variables closely related to the apple bioactive components were used for the establishment of the partial least squares (PLS) models. The predictive correlation coefficient (R-p), root mean square error of prediction (RMSEP), and residual predictive deviation (RPD) were used to estimate the performance of the models. The CARS-PLS models displayed the best prediction performance using 600-1000 nm spectra with R-p, RMSEP, and RPD values of 0.9562, 1.340% and 3.720 for apple watercore degree; 0.9808, 0.327 (o)Bx and 4.845 for apple SSC, respectively. These results demonstrate the potential of the NIR transmittance spectroscopy technology for quantitative detection of SSC and watercore degree in apple fruit.
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| 3. |
- Jiang, Tao, et al.
(författare)
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Guest Editorial : Special issue on flexible and resilient urban energy systems
- 2023
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Ingår i: International Journal of Electrical Power & Energy Systems. - : Elsevier BV. - 0142-0615 .- 1879-3517. ; 154, s. 109439-
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Forskningsöversikt (refereegranskat)abstract
- This guest editorial summarizes the topics and the papers selected for the Special Issue on Flexible and Resilient Urban Energy Systems. After rigorous reviewing process, 21 papers are accepted for publication. These 21 accepted papers cover various aspects of urban energy systems and are distributed as following: situational awareness of urban energy systems (2 papers), quantification metrics of flexibility and resilience of urban energy systems (3 papers), vulnerability modeling of urban energy systems under various extreme events (3 papers), planning of flexible and resilient urban energy systems (4 papers), robust and resilient operation and control of urban energy systems (4 papers), recovery and restoration strategy of urban energy systems (2 papers), and coordination and interoperability of interconnected energy systems (3 papers). The Guest Editorial Board hopes this Special Issue can provide a valuable information for future research and advancements in the field of flexible and resilient urban energy systems.
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| 4. |
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- 2019
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Tidskriftsartikel (refereegranskat)
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