Publications by authors named "M Antolin"
Article Synopsis
- TRAF3 is an adaptor protein involved in immune signaling pathways, and deficiencies in TRAF3 can lead to serious health issues, like recurrent infections and autoimmune conditions.
- A recent study reanalyzed genetic data from patients with immune disorders and discovered three new cases of TRAF3 mutations, which had previously been misdiagnosed as common variable immunodeficiency (CVID).
- These findings highlight the importance of targeted genetic reanalysis in understanding different clinical presentations of TRAF3 deficiency, and they provide new insights for further research on immune-related diseases.
Article Synopsis
- Genetic defects in the TSH receptor can lead to various thyroid issues, such as thyroid dysgenesis or dyshormonogenesis, resulting in a wide range of symptoms from severe congenital hypothyroidism to mild hormonal imbalances.
- A study analyzed 160 pediatric patients with thyroid dyshormonogenesis using high-throughput gene panels and in vitro tests to assess the impact of recognized genetic variants on thyroid function.
- The findings showed that out of the patients studied, 3.13% had significant genetic variants affecting their thyroid health, with different variants exhibiting varying levels of functional impact, underscoring the necessity of genetic testing for accurate diagnosis.
Thyroid dyshormonogenesis (THD) is a heterogeneous group of genetic diseases caused by the total or partial defect in the synthesis or secretion of thyroid hormones. Genetic variants in can cause partial to total iodination organification defects and clinical heterogeneity, from transient to permanent congenital hypothyroidism. The aim of this study was to undertake a molecular characterization and genotype-phenotype correlation in patients with THD and candidate variants in .
View Article and Find Full Text PDF: Non-Invasive prenatal test (NIPT) is used as a universal or contingent test after prior risk assessment. Screening is mainly performed for common trisomies (T21, T13, T18), although other chromosomal anomalies may be detected. Our objective was to study the performance of GWNIPT in the detection of chromosomal abnormalities in pregnancies in which an invasive prenatal study was performed and in early pregnancy losses, in comparison with the reference test.
View Article and Find Full Text PDFIntroduction: Defects in any thyroid hormone synthesis steps cause thyroid dyshormonogenesis (THD). THD due to () gene variants is a cause of congenital hypothyroidism (CH) with a wide clinical spectrum, ranging from mild to severe permanent hypothyroidism. We present high-throughput sequencing results of patients with variants.
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