Refinement of the 6q chromosomal region implicated in transient neonatal diabetes
نویسندگان
چکیده
منابع مشابه
Chromosomal Region Implicated in Transient Neonatal Diabetes
Transient neonatal diabetes mellitus (TNDM) is estimated to occur in ~1 in 500,000 births and represents 50–60% of cases of neonatal diabetes. The pattern of inheritance of TNDM and its association with chromosome 6 uniparental disomy is consistent with the presence on chromosome 6 of an imprinted gene involved in pancreatic -cell development. Systematic screening for chromosome 6 abnormalities...
متن کاملA conserved imprinting control region at the HYMAI/ZAC domain is implicated in transient neonatal diabetes mellitus.
Transient neonatal diabetes mellitus (TNDM) is associated with intra-uterine growth retardation, dehydration and a lack of insulin. Some TNDM patients exhibit paternal uniparental disomy (UPD) of chromosome 6q24, where at least two imprinted genes, HYMAI and ZAC, have so far been characterized. Here we show that the differentially methylated CpG island that partially overlaps mZac1 and mHymai a...
متن کاملtransient neonatal diabetes
sarah was a 22 year old woman who passing her first pregnancy. the pregnancy was unplanned and random and she did not know her last menstrual history. he was visited at home by a midwife community health. no important problem was found in his medical history but he was smoking 20 cigarettes daily . it was noteworthy that saeed ,his wife, had transient neonatal diabetes history. although sar...
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چکیده ندارد.
15 صفحه اولGenetic 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: 2000
ISSN: 0012-1797,1939-327X
DOI: 10.2337/diabetes.49.1.108