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Molecular Diagnosis of Neonatal Diabetes Mellitus Using Next-Generation Sequencing of the Whole Exome

Archive ouverte | Bonnefond, Amélie | CCSD

International audience. Background: Accurate molecular diagnosis of monogenic non-autoimmune neonatal diabetes mellitus (NDM) is critical for patient care, as patients carrying a mutation in KCNJ11 or ABCC8 can be t...

New ABCC8 mutations in relapsing neonatal diabetes and clinical features.

Archive ouverte | Vaxillaire, Martine | CCSD

Activating mutations in the ABCC8 gene that encodes the sulfonylurea receptor 1 (SUR1) regulatory subunit of the pancreatic islet ATP-sensitive K(+) channel (K(ATP) channel) cause both permanent and transient neonatal diabetes. Re...

RFX6 Regulates Insulin Secretion by Modulating Ca2+ Homeostasis in Human β Cells

Archive ouverte | Chandra, Vikash | CCSD

International audience. Development and function of pancreatic β cells involve the regulated activity of specific transcription factors. RFX6 is a transcription factor essential for mouse β cell differentiation that...

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