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- Kim, Yoo-Mi, et al.
(författare)
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Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies.
- 2016
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Ingår i: Molecular Medicine. - : Springer Science and Business Media LLC. - 1528-3658 .- 1076-1551. ; 22, s. 147-155
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Tidskriftsartikel (refereegranskat)abstract
- Methionine adenosyltransferase (MAT) I/III deficiency can be inherited as autosomal dominant (AD) or as recessive (AR) traits in which mono- or bi-allelic MAT1A mutations have been identified, respectively. Although most patients have benign clinical outcomes, some with the AR form have neurological deficits. Here we describe 16 Korean patients with MAT I/III deficiency from 15 unrelated families identified by newborn screening. Ten probands had the AD MAT I/III deficiency, while six had AR MAT I/III deficiency. Plasma methionine (145.7 μmol/L vs. 733.2 μmol/L, P < 0.05) and homocysteine levels (12.3 μmol/L vs. 18.6 μmol/L, P < 0.05) were lower in the AD type than in AR type. In addition to the only reported AD MAT1A mutation, p.Arg264His, we identified two novel AD mutations, p.Arg249Gln and p.Gly280Arg. In the AR type, four previously reported and two novel mutations, p.Arg163Trp and p.Tyr335*, were identified. No exonic deletions were found by quantitative genomic PCR. Three-dimensional structural prediction programs indicated that the AD type mutations were located on the dimer interface or in the substrate binding site, hindering MAT I/III dimerization or substrate binding, respectively, whereas the AR mutations were distant from the interface or substrate binding site. These results indicate that the AD or AR MAT I/III deficiency is correlated with clinical findings, substrate levels, and structural features of the mutant proteins, which is important for the neurological management and genetic counseling of the patients.
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- Lederman, Judith S., et al.
(författare)
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Completing the progression establishing an international baseline of primary, middle and secondary students’ views of scientific inquiry
- 2023
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Ingår i: International Journal of Science Education. - : Routledge. - 0950-0693 .- 1464-5289.
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Tidskriftsartikel (refereegranskat)abstract
- Knowledge of scientific inquiry (SI) is considered essential to the development of an individual's Scientific Literacy (SL) and therefore, SI is included in many international science education reform documents. Two previous large scale international studies assessed the SI understandings of students entering middle school and secondary students at the end of their formal K-12 science education. The purpose of this international project was to use the VASI-E to collect data on what primary level students have learned about SI in their first few years of school. This study adds to previous research to bridge the landscape of SI understandings now with representation from primary, middle and high school samples. A total of 4,238 students from 35 countries/regions spanning six continents participated in the study. The results show that globally, primary students are not adequately informed about SI for their age group. However, when compared with the students in the previous international studies (grades seven and 12), the primary students' understandings were surprisingly closer to the levels of understanding of SI of the secondary school students than those in the seventh grade study.
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