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Current approaches in CRISPR-Cas system for metabolic disorder.

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January 2025

School of Health Sciences & Technology, UPES, Dehradun, Uttarakhand, India. Electronic address:

A new era in genomic medicine has been brought by the development of CRISPR-Cas technology, which presents hitherto unheard-of possibilities for the treatment of metabolic illnesses. The treatment approaches used in CRISPR/Cas9-mediated gene therapy, emphasize distribution techniques such as viral vectors and their use in preclinical models of metabolic diseases like hypercholesterolemia, glycogen storage diseases, and phenylketonuria. The relevance of high-throughput CRISPR screens for target identification in discovering new genes and pathways associated with metabolic dysfunctions is an important aspect of the discovery of new approaches.

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Rationalizing Predictions of Isoform-Selective Phosphoinositide 3-Kinase Inhibitors Using MolAnchor Analysis.

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Explaining the predictions of machine learning models is of critical importance for integrating predictive modeling in drug discovery projects. We have generated a test system for predicting isoform selectivity of phosphoinositide 3-kinase (PI3K) inhibitors and systematically analyzed correct predictions of selective inhibitors using a new methodology termed MolAnchor, which is based on the "anchors" concept from explainable artificial intelligence. The approach is designed to generate chemically intuitive explanations of compound predictions.

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Unlabelled: The Bland-White-Garland syndrome, or Anomalous Origin of the Left Coronary Artery from the Pulmonary Artery (ALCAPA) syndrome, is a rare congenital cardiac anomaly often associated with high mortality, if left untreated. We present a case of a 43-year-old female with undiagnosed ALCAPA who initially underwent mitral valve surgery for severe mitral regurgitation, only to require reoperation due to adult-type ALCAPA. Intraoperatively, the discovery of dilated right coronary artery and its branches and absence of the left coronary ostium prompted further investigation, leading to the diagnosis of adult-type ALCAPA.

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