Permanent Neonatal Diabetes in INSC94Y Transgenic Pigs

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Permanent Neonatal Diabetes in INSC94Y Transgenic Pigs

Mutations in the insulin (INS) gene may cause permanent neonatal diabetes mellitus (PNDM). Ins2 mutant mouse models provided important insights into the disease mechanisms of PNDM but have limitations for translational research. To establish a large animal model of PNDM, we generated INS(C94Y) transgenic pigs. A line expressing high levels of INS(C94Y) mRNA (70-86% of wild-type INS transcripts)...

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Permanent Neonatal Diabetes in INS Transgenic Pigs

Mutations in the insulin (INS) gene may cause permanent neonatal diabetes mellitus (PNDM). Ins2 mutant mouse models provided important insights into the disease mechanisms of PNDM but have limitations for translational research. To establish a large animal model of PNDM, we generated INS transgenic pigs. A line expressing high levels of INS mRNA (70–86% of wild-type INS transcripts) exhibited e...

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Permanent neonatal diabetes mellitus

BACKGROUND Neonatal diabetes is a rare cause of hyperglycemia, affecting 1: 500,000 births, with persistent hyperglycemia occurring in the first months of life lasting more than 2 weeks and requiring insulin. This condition in infants less than 6 months of age is considered as permanent neonatal diabetes mellitus. CASE REPORT A rare case of permanent neonatal diabetes mellitus presented with ...

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Permanent Neonatal Diabetes (DEND Syndrome).

DEND syndrome is a very rare syndrome of permanent neonatal diabetes mellitus, with an incidence of < 1/1000,000. It is defined as a triad of developmental delay, epilepsy, and neonatal diabetes. We report the case of a 9-month infant girl who presented with the most severe form of neonatal diabetes mellitus spectrum along with developmental delay and epilepsy. Genetic mutation testing confirme...

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Genetic Susceptibility to Transient and Permanent Neonatal Diabetes Mellitus

Neonatal diabetes mellitus (NDM) is a rare kind of diabetes characterized by hyperglycemia and low levels of insulin. Clinically, it is categorized into two main types: transient NDM (TNDM) and permanent NDM (PNDM). These types are diagnosed based on duration of insulin dependence early in the disease. In TNDM, diabetes begins in the first few weeks of life with remission in a few months. Howev...

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ژورنال

عنوان ژورنال: Diabetes

سال: 2012

ISSN: 0012-1797,1939-327X

DOI: 10.2337/db12-1065