Publications by authors named "Maria Oro"

Article Synopsis
  • - The AUTS2 gene family includes AUTS2 and FBRSL1, both of which may play roles in neurogenesis and transcription regulation, but FBRSL1's exact function remains unclear despite its relatedness to AUTS2.
  • - A patient with a de novo truncating variant in FBRSL1 exhibited clinical symptoms linked to this genetic alteration, prompting research into how additional genetic factors, including duplications from both parents, might modulate the phenotype.
  • - In-depth analysis combining protein structure predictions and genomic data suggests FBRSL1 could influence neurodevelopment and potentially be involved in distinct clinical syndromes, emphasizing the importance of genetic and epigenetic interactions in understanding these conditions.
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Kirsten Rat Sarcoma Viral Oncogene Homolog (KRAS) gene variations are linked to the development of numerous cancers, including non-small cell lung cancer (NSCLC), colorectal cancer (CRC), and pancreatic ductal adenocarcinoma (PDAC). The lack of typical drug-binding sites has long hampered the discovery of therapeutic drugs targeting KRAS. Since "CodeBreaK 100" demonstrated Sotorasib's early safety and efficacy and led to its approval, especially in the treatment of non-small cell lung cancer (NSCLC), the subsequent identification of specific inhibitors for the p.

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Pathogenic variants in genes are involved in histone acetylation and deacetylation resulting in congenital anomalies, with most patients displaying a neurodevelopmental disorder and dysmorphism. Arboleda-Tham syndrome caused by pathogenic variants in KAT6A (Lysine Acetyltransferase 6A; OMIM 601408) has been recently described as a new neurodevelopmental disorder. Herein, we describe a patient characterized by complex phenotype subsequently diagnosed using the clinical exome sequencing (CES) with Arboleda-Tham syndrome (ARTHS; OMIM 616268).

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Background: In the last 2 years, we have been fighting against SARS-CoV-2 viral infection, which continues to claim victims all over the world. The entire scientific community has been mobilized in an attempt to stop and eradicate the infection. A well-known feature of RNA viruses is their high mutational rate, particularly in specific gene regions.

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