Publications by authors named "R Marra"
PIEZO1 encodes a mechanoreceptor, a cation channel activated by mechanical stimuli. Gain-of-function (GoF) variants in PIEZO1 cause dehydrated hereditary stomatocytosis (DHS), or xerocytosis, a pleiotropic syndrome characterized by anemia and iron overload. DHS patients develop hepatic iron overload independent of the degree of anemia and transfusion regimen.
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- Hereditary dyserythropoietic anemias (CDAs) are rare genetic disorders that disrupt normal blood cell development, leading to ineffective red blood cell production and low blood cell counts.
- The identification of new genes linked to CDAs through advanced genetic sequencing has improved diagnosis and helped scientists understand how these conditions work at a biological level.
- Current treatments focus on supportive care, but recent insights into genetic mechanisms may open up new therapeutic options for managing these anemias.
Article Synopsis
- Congenital Dyserythropoietic Anemia type I (CDA I) is a rare genetic anemia marked by symptoms like enlarged spleen and iron overload, with unique features in late red blood cell development.
- In a study of 36 patients suspected of having CDA I, 89% received a molecular diagnosis, identifying 16 cases linked to specific gene variants, while others were diagnosed with different conditions like pyruvate kinase deficiency.
- No major differences were found in the shape of red blood cells between CDA I and non-CDA I patients, but those with non-CDA I experienced more severe anemia and were more likely to require blood transfusions.
Article Synopsis
- The study explores the rising use of biostimulants and biofilms in agriculture, highlighting their potential to enhance plant growth, nutrient uptake, and resilience against stress while offering eco-friendly alternatives to chemical methods.
- Two commercial biostimulant products, Trianum P (microbial) and Phylgreen (seaweed extract), were tested on industrial tomato plants to assess their effects on plant metabolism under different biodegradable mulch films.
- Metabolomics analysis showed that different combinations and types of biostimulants significantly influenced the accumulation of various compounds in tomato leaves and berries, particularly alkaloids and flavonoids, with notable differences depending on the mulch used.