Abstract:Genetic knockout studies in mice concluded that the differentiation of endocrine lineages in the pancreas and intestine requires the transcription factor neurogenin3 (NGN3). However, case reports of patients with NGN3 mutations show that most patients do not develop diabetes until later in childhood, suggesting that NGN3 may not be required for human beta cell differentiation in vivo. We have identified a patient with a previously undescribed NGN3 loss-of-function mutation and generated induced pluripotent ste… Show more
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