| 1. |
- Kanai, M, et al.
(författare)
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- 2023
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swepub:Mat__t
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| 2. |
- Niemi, MEK, et al.
(författare)
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- 2021
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swepub:Mat__t
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| 3. |
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| 5. |
- Pekkinen, M., et al.
(författare)
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Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2
- 2019
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Ingår i: Jci Insight. - : American Society for Clinical Investigation. - 2379-3708. ; 4:7
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Tidskriftsartikel (refereegranskat)abstract
- Mechanisms leading to osteoporosis are incompletely understood. Genetic disorders with skeletal fragility provide insight into metabolic pathways contributing to bone strength. We evaluated 6 families with rare skeletal phenotypes and osteoporosis by next-generation sequencing. In all the families, we identified a heterozygous variant in SGMS2, a gene prominently expressed in cortical bone and encoding the plasma membrane-resident sphingomyelin synthase SMS2. Four unrelated families shared the same nonsense variant, c.148C>T (p.Arg50*), whereas the other families had a missense variant, c.185T>G (p.IIe62Ser) or c.191T>G (p.Met64Arg). Subjects with p.Arg50* presented with childhood-onset osteoporosis with or without cranial sclerosis. Patients with p.IIe62Ser or p.Met64Arg had a more severe presentation, with neonatal fractures, severe short stature, and spondylometaphyseal dysplasial Several subjects had experienced peripheral facial nerve palsy or other neurological manifestations. Bone biopsies showed markedly altered bone material characteristics, including defective bone mineralization. Osteoclast formation and function in vitro was normal. While the p.Arg50* mutation yielded a catalytically inactive enzyme, p.IIe62Ser and p.Met64Arg each enhanced the rate of de novo sphingomyelin production by blocking export of a functional enzyme from the endoplasmic reticulum. SGMS2 pathogenic variants underlie a spectrum of skeletal conditions, ranging from isolated osteoporosis to complex skeletal dysplasia, suggesting a critical role for plasma membrane-bound sphingomyelin metabolism in skeletal homeostasis.
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| 9. |
- Nasir, Mehwish Huma, et al.
(författare)
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Calcium-, magnesium-, and yttrium-doped lithium nickel phosphate nanomaterials as high-performance catalysts for electrochemical water oxidation reaction
- 2024
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Ingår i: Nanotechnology Reviews. - : Walter de Gruyter. - 2191-9089 .- 2191-9097. ; 13:1
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Tidskriftsartikel (refereegranskat)abstract
- Electrochemical water oxidation reaction (WOR) lies among the most forthcoming approaches toward eco-conscious manufacturing of green hydrogen owing to its environmental favors and high energy density values. Its vast commoditization is restricted by high-efficiency and inexpensive catalysts that are extensively under constant research. Herein, calcium, magnesium, and yttrium doped lithium nickel phosphate olivines (LiNi1-xMxPO, LNMP; x = 0.1-0.9; M = Ca2+, Mg2+, and Y3+) were synthesized via non-aqueous sol-gel method and explored for catalytic WOR. Lithium nickel phosphates (LNP) and compositions were characterized via Fourier transform infrared, scanning electron microscopy, X-ray diffraction, and energy dispersive X-ray diffraction techniques for the structural and morphological analyses. Glassy carbon electrode altered with the LNMPs when studied in a standard redox system of 5 mM KMnO4, displayed that yttrium doped LNP, i.e. LNYP-3 exhibits the highest active surface area (0.0050 cm(2)) displaying the lowest average crystallite size (D-avg) i.e. similar to 7 nm. Electrocatalytic behavior monitored in KOH showed that LNMP-2 offers the highest rate constant "k(o)," value, i.e. 3.9 10(-2) cm s(-1) and the largest diffusion coefficient "D-o," i.e. 5.2 x 10(-5) cm(2) s(-1). Kinetic and thermodynamic parameters demonstrated the facilitated electron transfer and electrocatalytic properties of proposed nanomaterials. Water oxidation peak current density values were indicative of the robust catalysis and facilitated water oxidation process besides lowering the Faradic onset potential signifying the transformation of less LNP into more conducive LNMP toward water oxidation.
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