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myasthenickids

Delineating the Complex Genomic Landscape

Delineating the Complex Genomic Landscape of Multiple Myeloma Using Next-Generation Sequencing (NGS): Progress and Potential to Supersede Traditional Genetic Testing Recent NGS studies in multiple myeloma identified in one step and with comparable high accuracy to the concurrent cytogenomic tests the characteristic IGH translocations and copy number abnormalities. In addition, NGS allowed detection of gene mutations. This […]

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myasthenickids

Implications of Genetic Testing in Dilated

Implications of Genetic Testing in Dilated Cardiomyopathy Background – Genetic analysis is a first-tier test in dilated cardiomyopathy (DCM). Electrical phenotypes are common in genetic DCM but their exact contribution to the clinical course and outcome is unknown. We determined the prevalence of pathogenic gene variants in a large unselected DCM population, and determined the role of electrical phenotypes […]

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myasthenickids

A 2020 update on the use of genetic testing for patients

A 2020 update on the use of genetic testing for patients with primary immunodeficiency Introduction: Genetic testing of patients with clinically diagnosed or suspected primary immunodeficiencies (PIDs) constitutes standard of care. Choice of testing modality and patient attributes can impact the likelihood of securing a diagnosis. Areas covered: Published diagnostic rates for gene panel testing, exome sequencing (WES), and […]

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myasthenickids

Primary prevention of sickle cell disease

Primary prevention of sickle cell disease using preimplantation genetic testing and in vitro fertilization is cost-effective For couples with sickle cell trait (SCT) who are at risk for having a child with sickle cell disease (SCD), cost is a barrier to using in vitro fertilization (IVF) with preimplantation genetic testing for monogenic diseases (PGT-M) and insurance coverage is […]

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myasthenickids

Structural and useful characterization of C0021158, a high-affinity monoclonal antibody that inhibits Arginase

Structural and useful characterization of C0021158, a high-affinity monoclonal antibody that inhibits Arginase 2 perform by way of a novel non-competitive mechanism of motion   Arginase 2 (ARG2) is a binuclear manganese metalloenzyme that catalyzes the hydrolysis of L-arginine. The dysregulated expression of ARG2 inside particular tumor microenvironments generates an immunosuppressive area of interest that successfully renders the […]

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