Publications by authors named "P Addabbo"

A-to-I RNA editing is the most common non-transient epitranscriptome modification. It plays several roles in human physiology and has been linked to several disorders. Large-scale deep transcriptome sequencing has fostered the characterization of A-to-I editing at the single nucleotide level and the development of dedicated computational resources.

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Article Synopsis
  • Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare metabolic disorder caused by genetic mutations, affecting the body's ability to process fatty and amino acids, occurring in about 1 in 200,000 live births.
  • MADD manifests in three ways: severe neonatal-onset, which may include additional congenital anomalies, and a milder late-onset variant, with diagnosis supported by advanced urine and blood tests.
  • Researchers successfully diagnosed a newborn with a unique intronic mutation using whole-genome and RNA sequencing, emphasizing the need to analyze RNA to uncover hidden genetic issues that typical methods might miss.
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The Clustered Regularly Interspaced Short Palindromic Repeats and CRISPR-associated proteins (CRISPR-Cas) system of prokaryotes is an adaptative immune defense mechanism to protect themselves from invading genetic elements (e.g., phages and plasmids).

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One gene, the immunoglobulin heavy chain () gene, is responsible for the expression of all the different antibody isotypes. Transcriptional regulation of the gene is complex and involves several regulatory elements including a large element at the 3' end of the gene locus (3'RR). Animal models have demonstrated an essential role of the 3'RR in the ability of B cells to express high affinity antibodies and to express different antibody classes.

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Background: Several studies in animal models have demonstrated the role of the 3' Regulatory Region (3'RR) in the B cell maturation in mammals. In healthy humans, the concentration of each class of circulating immunoglobulins (Igs) has stable but different levels, due to several control mechanisms that also involve a duplicated version of the 3'RR on the chromosome 14 (chr14). The classes' equilibrium can be altered during infections and in other pathological conditions.

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