Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 3 of 3 for “"SCN8A"”.
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EXPANSION OF CLINICAL PHENOTYPE AND USE OF KETOGENIC DIET IN RARE GENETIC CONDITIONS: GLUCOSE TRANSPORTER TYPE 1 DEFICIENCY SYNDROME AND SCN8A-RELATED DISORDERS
… associated with pathogenic variants in the SCN8A gene. The aim was to expand the understanding of the clinical phenotype and disease progression, as well as to evaluate the efficacy of the ketogenic diet (KD) as a treatment. Regarding GLUT1-DS, data were collected at the Italian reference …
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Characterization of the mechanisms behind the alternative splicing of the mutually exclusive exons 18N and 18A in the sodium channel gene SCN8A and mutually exclusive exons 5N and 5A in the soldium channel gene SCN9A
… isoforms Na<sub>v</sub> 1.1-1.8 (SCNIA-SCN5A and SCN8A-SCNIIA) and the majority of these undergo tissue and developmentally regulated alternative splicing. Two such examples are those of the SCN8A (Nav 1.6) and SCN9A (Nav 1.7) genes. SCN8A gene contains two mutually exclusive exons, 18N and 18A. …
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Genetic parameters and genomic analysis of semen quality and fertility traits in pigs
… choice of the method. Candidate genes SCN8A, PTGS2, PLA2G4A, DNAI2, IQCG, LOC102167830, NME5, AZIN2, SPATA7, METTL3 and HPGDS were identified associated with semen traits in the QTL regions identified for the pig lines evaluated. The gene network analysis showed candidate genes found …