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NOTCH1

Researchers Create a Stem Cell Line to Study Alagille Syndrome
 Researchers Create a Stem Cell Line to Study Alagille Syndrome 1024 683 Mary Bates, PhD
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The patient-derived iPSCs have a mutation affecting the Notch signaling pathway. Researchers at Nationwide Children’s have developed an induced pluripotent stem cell (iPSC) line derived from a patient with Alagille syndrome, a multisystem genetic disease. Like the majority of patients with Alagille syndrome, the stem cells have a pathogenic mutation in the JAG1 gene, part…

New Insights into the Role of the NOTCH1 Gene in Congenital Heart Defects
 New Insights into the Role of the NOTCH1 Gene in Congenital Heart Defects 150 150 Mary Bates, PhD
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Experiments in human cells identify how mutations in the NOTCH1 gene impact cardiac cell differentiation and proliferation. A new study published in Circulation Research provides novel insights into how mutations in the NOTCH1 gene may lead to abnormal differentiation and proliferation of cardiomyocytes and contribute to ventricular hypoplasia and other structural anomalies found in congenital…