Here we report two loss-of-function mutations (c.1655T>A [p.Leu552(∗)] and c.280G>A [p.Asp94Asn]) in the gene for the Adaptor Protein, Phosphotyrosine Interaction, PH domain, and leucine zipper containing 1 (APPL1) that were identified by means of whole-exome sequencing in two large families with a high prevalence of diabetesnot due to mutations in known genes involved in maturity onset diabetes of the young (MODY).
Here we report two loss-of-function mutations (c.1655T>A [p.Leu552(∗)] and c.280G>A [p.Asp94Asn]) in the gene for the Adaptor Protein, Phosphotyrosine Interaction, PH domain, and leucine zipper containing 1 (APPL1) that were identified by means of whole-exome sequencing in two large families with a high prevalence of diabetesnot due to mutations in known genes involved in maturity onset diabetes of the young (MODY).
We genotyped 640 healthy subjects with and without a family history of diabetes for the four single nucleotide polymorphisms (SNPs) rs6774584, rs3087684, rs17791685 and rs528035 and performed correlational analyses with metabolic and inflammatory traits.
We genotyped 640 healthy subjects with and without a family history of diabetes for the four single nucleotide polymorphisms (SNPs) rs6774584, rs3087684, rs17791685 and rs528035 and performed correlational analyses with metabolic and inflammatory traits.