Publications by authors named "Natalia Ordonez"
Article Synopsis
- The study investigates a specific genetic variant in the IP3 receptor that results in a significant disorder affecting multiple systems, characterized by immunodeficiency and disturbed calcium release in cells.
- The variant (c.7570C>T, p.Arg2524Cys) leads to cellular defects, particularly impacting T cells, and is shown to affect calcium regulation and mitochondrial function, evidenced in laboratory models.
- Patients exhibited a range of symptoms beyond immunodeficiency, such as ectodermal dysplasia and short stature, suggesting that this genetic mutation plays a unique and broader role in disease compared to previously documented cases.
Article Synopsis
- The MCM complex is crucial for DNA replication and plays a role in cell cycle regulation, as well as in the formation of cilia; mutations in MCM genes can lead to growth and developmental disorders like Meier-Gorlin and Seckel syndromes.
- Two unrelated individuals with a specific mutation in the MCM6 gene showed overlapping health issues, including growth retardation and developmental delays, indicating a likely harmful effect on DNA replication.
- Additional cases of MCM6 mutations suggest a connection to various neurodevelopmental disorders, urging healthcare professionals to consider these variants when diagnosing patients with such conditions.
Article Synopsis
- - The study explores the previously unknown function of the C2orf69 gene, linking it to a severe syndrome in 20 children characterized by fatal autoinflammation and progressive brain issues.
- - Genetic analysis revealed homozygous loss-of-function variants in C2orf69, suggesting its key role in brain and immune system development through its influence on mitochondrial function and GBE1 levels.
- - Experimentation on zebrafish demonstrated that inactivation of C2orf69 leads to early death due to epilepsy and brain inflammation, further supporting its crucial role in neural and immune health.
Recently, ADAMTS19 was identified as a novel causative gene for autosomal recessive heart valve disease (HVD), affecting mainly the aortic and pulmonary valves. Exome sequencing and data repository (CentoMD) analyses were performed to identify patients with ADAMTS19 variants (two families). A third family was recognized based on cardiac phenotypic similarities and SNP array homozygosity.
View Article and Find Full Text PDFCyclic mononucleotides are messengers in plant stress responses. Here we show that hydrogen peroxide (H2O2) induces rapid net K(+)-efflux and Ca(2+)-influx in Arabidopsis roots. Pre-treatment with either 10μM cAMP or cGMP for 1 or 24h does significantly reduce net K(+)-leakage and Ca(2+)-influx, and in the case of the K(+)-fluxes, the cell permeant cyclic mononucleotides are more effective.
View Article and Find Full Text PDFChanges in ion permeability and subsequently intracellular ion concentrations play a crucial role in intracellular and intercellular communication and, as such, confer a broad array of developmental and adaptive responses in plants. These changes are mediated by the activity of plasma-membrane based transport proteins many of which are controlled by cyclic nucleotides and/or other signaling molecules. The MIFE technique for noninvasive microelectrode ion flux measuring allows concurrent quantification of net fluxes of several ions with high spatial (μm range) and temporal (ca.
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