نتایج جستجو برای: kcnj11
تعداد نتایج: 484 فیلتر نتایج به سال:
زمینه و هدف: ابتلا به دیابت در گیرندگان پیوند کبد یکی از مشکلات رایج در این بیماران بوده که دارای تأثیر منفی در موفقیت پیوند و حیات بیمار می باشد. دیابت پس از پیوند (ptdm) از نظر پاتوفیزیولوژی، بالینی و ژنتیکی با دیابت نوع 2 شباهت های زیادی دارد. یکی از ژنوتیپ های دخیل در ایجاد ptdm، 5219rs در ژن kcnj11 می باشد که در عملکرد سلول های بتا دخیل بوده و اثر تنظیم کننده بر کانال پتاسیمی حساس به atp د...
Transient neonatal diabetes mellitus (TNDM) is diagnosed in the first 6 months of life, with remission in infancy or early childhood. For approximately 50% of patients, their diabetes will relapse in later life. The majority of cases result from anomalies of the imprinted region on chromosome 6q24, and 14 patients with ATP-sensitive K+ channel (K(ATP) channel) gene mutations have been reported....
Klinefelter syndrome is the most frequent chromosomal aneuploidy in males occurring in about 1 in 660 males. Epidemiological studies have demonstrated increased risk of type 1 diabetes and type 2 diabetes in adults with Klinefelter syndrome. There is only one previous report of neonatal diabetes in a patient with Klinefelter syndrome. We report transient neonatal diabetes due to a pathogenic he...
Congenital hyperinsulinism (CHI) has been mostly associated with mutations in seven major genes. We retrospectively reviewed a cohort of 32 patients with CHI. Extensive mutational analysis (ABCC8,KCNJ11,GCK,GLUD1,HADH,HNF4A, and UCP2) was performed on Ion torrent platform, which could analyze hundreds of genes simultaneously with ultrahigh-multiplex PCR using up to 6144 primer pairs in a single...
Oral antidiabetic drugs (OADs) are widely used to treat type 2 diabetes mellitus (T2DM). However, inherited difference is one of the major issues that affect OADs therapeutic efficacy. In the present paper, we performed a critical review on recent advances in genetic polymorphisms that influence OADs therapeutic efficacy and metabolism. Sulfonylureas (SUs), Meglitinides, Metformin and Thiazolid...
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