2 research outputs found

    Influence of Plant Growth Regulators and Artificial Light on the Growth and Accumulation of Inulin of Dedifferentiated Chicory (Cichorium intybus L.) Callus Cells

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    Chicory (Chicorium intybus L.) is a perennial herb of the family Asteraceae, widely distributed in Asia and Europe, commonly used industrially as a raw material for extracting inulin because of a high content of inulin and biologically active compounds. Light conditions and plant growth regulators (PGRs) are two of many factors that affect the growth and inulin content of chicory callus. The aim of this work is to study the effect of PGRs and light conditions on proliferation and accumulation of inulin of chicory callus in vitro. In this study, we used semi-solid MS medium supplemented with different auxins (including Indole-3-acetic acid (IAA), naphthylacetic acid (NAA), and 2,4-dichlorophenoxyacetic acid (2,4-D)) at a concentration of 5.5–9.5 mg/L in combination with 2.0 mg/L 6 benzylaminopurine (BA) to determine induction and proliferation of callus. The increasing value of callus fresh weight was used to assess the growth of the callus in treatments. The results showed that a steady increase in callus fresh weight and inulin content in callus cells was obtained when they were cultured on MS medium supplemented with a combination of 2.0 mg/L BA with 7.5 mg/L IAA in lighting conditions with radiation equalized by the flux density of photosynthetic photons and ratios of radiation levels in the region of FR—far red > R—red. Increasing demand for organic inulin sources in production practice can be met by our finding

    De Novo Variant in the <i>KCNJ9</i> Gene as a Possible Cause of Neonatal Seizures

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    Background: The reduction in next-generation sequencing (NGS) costs allows for using this method for newborn screening for monogenic diseases (MDs). In this report, we describe a clinical case of a newborn participating in the EXAMEN project (ClinicalTrials.gov Identifier: NCT05325749). Methods: The child presented with convulsive syndrome on the third day of life. Generalized convulsive seizures were accompanied by electroencephalographic patterns corresponding to epileptiform activity. Proband WES expanded to trio sequencing was performed. Results: A differential diagnosis was made between symptomatic (dysmetabolic, structural, infectious) neonatal seizures and benign neonatal seizures. There were no data in favor of the dysmetabolic, structural, or infectious nature of seizures. Molecular karyotyping and whole exome sequencing were not informative. Trio WES revealed a de novo variant in the KCNJ9 gene (1:160087612T > C, p.Phe326Ser, NM_004983), for which, according to the OMIM database, no association with the disease has been described to date. Three-dimensional modeling was used to predict the structure of the KCNJ9 protein using the known structure of its homologs. According to the predictions, Phe326Ser change possibly disrupts the hydrophobic contacts with the valine side chain. Destabilization of the neighboring structures may undermine the formation of GIRK2/GIRK3 tetramers necessary for their proper functioning. Conclusions: We believe that the identified variant may be the cause of the disease in this patient but further studies, including the search for other patients with the KCNJ9 variants, are needed
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