Zobrazeno 1 - 10 of 268 pro vyhledávání: '"E C Smith"'
1
Akademický článek
5,10‐methenyltetrahydrofolate synthetase deficiency: An extreme rare defect of folate metabolism in two Dutch siblings
Autor: Lelde Liepina, Desiree E. C. Smith, Hidde Huidekoper, Shimriet Zeidler, Mirjam Wamelink, Marie‐Claire deWit, Martina Wilke, George Ruijter, Jörgen Bierau, Henk J. Blom
Publikováno v: JIMD Reports, Vol 65, Iss 2, Pp 49-55 (2024)
Abstract Two siblings, presenting with a neurometabolic phenotype, were identified with 5, 10‐methenyltetrahydrofolate synthetase (MTHFS) deficiency. Whole genome sequencing in both patients demonstrated an homozygous MTHFS variant NM_006441.3(MTHF
Externí odkaz: https://doaj.org/article/bfba9f423fed4d9586020e1b20459610
Zobrazit plný text záznamu
2
Akademický článek
Geomorphology and shallow sub-sea-floor structures underneath the Ekström Ice Shelf, Antarctica
Autor: A. Oetting, E. C. Smith, J. E. Arndt, B. Dorschel, R. Drews, T. A. Ehlers, C. Gaedicke, C. Hofstede, J. P. Klages, G. Kuhn, A. Lambrecht, A. Läufer, C. Mayer, R. Tiedemann, F. Wilhelms, O. Eisen
Publikováno v: The Cryosphere, Vol 16, Pp 2051-2066 (2022)
The Ekström Ice Shelf is one of numerous small ice shelves that fringe the coastline of western Dronning Maud Land, East Antarctica. Reconstructions of past ice-sheet extent in this area are poorly constrained, due to a lack of geomorphological evid
Externí odkaz: https://doaj.org/article/d921606db9ea44eaae729996719dfba1
Zobrazit plný text záznamu
3
Akademický článek
Evidence for a grounding line fan at the onset of a basal channel under the ice shelf of Support Force Glacier, Antarctica, revealed by reflection seismics
Autor: C. Hofstede, S. Beyer, H. Corr, O. Eisen, T. Hattermann, V. Helm, N. Neckel, E. C. Smith, D. Steinhage, O. Zeising, A. Humbert
Publikováno v: The Cryosphere, Vol 15, Pp 1517-1535 (2021)
Curvilinear channels on the surface of an ice shelf indicate the presence of large channels at the base. Modelling studies have shown that where these surface expressions intersect the grounding line, they coincide with the likely outflow of subglaci
Externí odkaz: https://doaj.org/article/3416ac1b9cb44c00975511c71e6acaf0
Zobrazit plný text záznamu
5
Akademický článek
Quantifying the effect of ocean bed properties on ice sheet geometry over 40 000 years with a full-Stokes model
Autor: C. Schannwell, R. Drews, T. A. Ehlers, O. Eisen, C. Mayer, M. Malinen, E. C. Smith, H. Eisermann
Publikováno v: The Cryosphere, Vol 14, Pp 3917-3934 (2020)
Simulations of ice sheet evolution over glacial cycles require integration of observational constraints using ensemble studies with fast ice sheet models. These include physical parameterisations with uncertainties, for example, relating to grounding
Externí odkaz: https://doaj.org/article/85efe26affc54d8494ad34224d637f95
Zobrazit plný text záznamu
6
Akademický článek
The evaluation of red blood cell folate and methotrexate levels during protocol M in childhood acute lymphoblastic leukemia
Autor: N. Oosterom, M. Fiocco, R. Q. H. Kloos, I. M. van der Sluis, R. Pieters, B. D. van Zelst, D. E. C. Smith, M. M. van den Heuvel-Eibrink, R. de Jonge, S. G. Heil
Publikováno v: BMC Cancer, Vol 20, Iss 1, Pp 1-10 (2020)
Abstract Background After High-Dose Methotrexate (HD-MTX), folinic acid rescue therapy (Leucovorin) is administered to reduce side effects in pediatric acute lymphoblastic leukemia (ALL) patients. Leucovorin and MTX are structural analogues, possibly
Externí odkaz: https://doaj.org/article/adb1e98d32e34de4a97a5e539ca4d3ec
Zobrazit plný text záznamu
7
Akademický článek
Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly
Autor: Lu Wang, Zhen Li, David Sievert, Desirée E. C. Smith, Marisa I. Mendes, Dillon Y. Chen, Valentina Stanley, Shereen Ghosh, Yulu Wang, Majdi Kara, Ayca Dilruba Aslanger, Rasim O. Rosti, Henry Houlden, Gajja S. Salomons, Joseph G. Gleeson
Publikováno v: Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)
Asparaginyl-tRNA synthetase1 (NARS1) is required for protein synthesis. Here, the authors identify biallelic NARS1 mutations in individuals with microcephaly and neurodevelopmental delay. Cortical brain organoid modeling recapitulates microcephaly ch
Externí odkaz: https://doaj.org/article/cc10dd5665ed408989d1b2eddc9acfe5
Zobrazit plný text záznamu
8
Akademický článek
Reduced Degradation of the Herbicide 4-Chloro-2-Methylphenoxyacetic Acid (MCPA) in Soil Induced by the Fungicide Mixture Mancozeb, Metalaxyl-M, and Chlorothalonil Used in Tank Mixtures and Spray Series
Autor: Kim Thu Nguyen, Kilian E. C. Smith, Richard Ottermanns, Christiaan Wijntjes, Joost T. van Dongen, Andreas Schäffer
Publikováno v: Soil Systems, Vol 6, Iss 4, p 94 (2022)
Pesticides are extensively used in agriculture to prevent infestation of crops, control plant-associated diseases and pests, and increase crop productivity. With regards to typical agricultural practice, tank mixing of two or more plant protection pr
Externí odkaz: https://doaj.org/article/0f4c3f1e9ca64d5eac35e18d92712a01
Zobrazit plný text záznamu
9
Akademický článek
Changes in intracellular folate metabolism during high-dose methotrexate and Leucovorin rescue therapy in children with acute lymphoblastic leukemia.
Autor: Natanja Oosterom, Robert de Jonge, Desiree E C Smith, Rob Pieters, Wim J E Tissing, Marta Fiocco, Bertrand D van Zelst, Marry M van den Heuvel-Eibrink, Sandra G Heil
Publikováno v: PLoS ONE, Vol 14, Iss 9, p e0221591 (2019)
BackgroundMethotrexate (MTX) is an important anti-folate agent in pediatric acute lymphoblastic leukemia (ALL) treatment. Folinic acid rescue therapy (Leucovorin) is administered after MTX to reduce toxicity. Previous studies hypothesized that Leucov
Externí odkaz: https://doaj.org/article/c5f9c4f6e20e4367a49b88df7fd4d397
Zobrazit plný text záznamu
10
Megalobastic anemia, infantile leukemia, and immunodeficiency caused by a novel homozygous mutation in the DHFR gene
Autor: Taco W. Kuijpers, Andrica C. H. de Vries, Ester M. van Leeuwen, A.(Ton) A. M. Ermens, Saskia de Pont, Desirée E. C. Smith, Mirjam M. C. Wamelink, Arjen R. Mensenkamp, Marcel R. Nelen, Hana Lango Allen, Steven T. Pals, Berna H. B. Beverloo, Hidde H. Huidekoper, Anja Wagner
Publikováno v: Blood, 6(22), 5829-5834. American Society of Hematology
NIHR BioResource Study Group 2022, ' Megalobastic anemia, infantile leukemia, and immunodeficiency caused by a novel homozygous mutation in the DHFR gene ', Blood, vol. 6, no. 22, pp. 5829-5834 . https://doi.org/10.1182/bloodadvances.2022007233
Blood advances, 6(22), 5829-5834. American Society of Hematology
Blood Advances, 6, 22, pp. 5829-5834
Blood Advances, 6, 5829-5834
Dihydrofolate reductase (DHFR) is a critical enzyme in folate metabolism that reduces folic acid to dihydrofolic and tetrahydrofolic acid and provides an important target for antineoplastic, antimicrobial, and anti-inflammatory drugs. Defective DHFR
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56771080af5c706649bb1d0c336a4c91
https://research.vumc.nl/en/publications/7c387e00-6db9-4862-a1eb-671b0c8d707d
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje