Unravelling the genetic causes of mosaic islet morphology in congenital hyperinsulinism
نویسندگان
چکیده
منابع مشابه
The genetic basis of congenital hyperinsulinism.
Congenital hyperinsulinism (CHI) is biochemically characterised by the dysregulated secretion of insulin from pancreatic beta-cells. It is a major cause of persistent hyperinsulinaemic hypoglycaemia (HH) in the newborn and infancy period. Genetically CHI is a heterogeneous condition with mutations in seven different genes described. The genetic basis of CHI involves defects in key genes which r...
متن کامل[Congenital hyperinsulinism].
In the last five years, our knowledge about the heterogenous syndrome of congenital hyperinsulinism (HI) has expanded explosively. HI may be familiar or sporadic, mild or severe, transitory or persistent, and histologically focal or diffuse. At least 63 disease-causing mutations have been found in the genes for the beta cell's ATP-dependent potassium channel, whose elements are the sulphonylure...
متن کاملphylogeography and genetic diversity of the lesser mouse- eared bat (myotis blythii) in iran
in current study, 63 samples of bat populations collected from differ regions were used for evaluating the geographic variations. twenty cranial and dental characters for traditional morphometric and landmarks method on the ventral, dorsal skull and mandible for geometry morphometric studies were used. statistical analyses of traditional morphometric and geometry morphometric data indicated low...
Genetic Causes of Congenital Malformation
There have been amazing advances in embryology, teratology, reproductive biology, genetics, andepidemiology in the past 50 years that have provided scientists and clinicians with a better perspective on the causes of congenital malformations. We still cannot provide the families of children with malformations a definitive 434SURAKSHA AGRAWAL Author’s Address: Prof. Suraksha Agrawal, Dep...
متن کاملAn ABCC8 gene mutation and mosaic uniparental isodisomy resulting in atypical diffuse congenital hyperinsulinism.
OBJECTIVE Congenital hyperinsulinism (CHI) may be due to diffuse or focal pancreatic disease. The diffuse form is associated with an increase in the size of beta-cell nuclei throughout the whole of the pancreas and most commonly results from recessive ATP-sensitive K(+) channel (K(ATP) channel) mutations. Focal lesions are the consequence of somatic uniparental disomy for a paternally inherited...
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ژورنال
عنوان ژورنال: The Journal of Pathology: Clinical Research
سال: 2019
ISSN: 2056-4538,2056-4538
DOI: 10.1002/cjp2.144