A1 Vertaisarvioitu alkuperäisartikkeli tieteellisessä lehdessä
Transient but not permanent neonatal diabetes mellitus is associated with paternal uniparental isodisomy of chromosome 6
Tekijät: Hermann R, Laine AP, Johansson C, Niederland T, Tokarska L, Dziatkowiak H, Ilonen J, Soltesz G
Kustantaja: AMER ACAD PEDIATRICS
Julkaisuvuosi: 2000
Journal: Pediatrics
Tietokannassa oleva lehden nimi: PEDIATRICS
Lehden akronyymi: PEDIATRICS
Vuosikerta: 105
Numero: 1
Aloitussivu: 49
Lopetussivu: 52
Sivujen määrä: 4
ISSN: 0031-4005
DOI: https://doi.org/10.1542/peds.105.1.49
Tiivistelmä
Conclusions. We propose that transient and permanent forms of neonatal diabetes mellitus have different genetic background and represent different disease entities. TND is associated with UPD of chromosome 6 suggesting that an imprinted gene on chromosome 6 is responsible for this phenotype. It seems that 2 copies of the paternal allele are necessary for the development of TND; therefore, it is likely that overexpression of a putative gene located on chromosome 6 alters pancreatic beta-cell maturation and insulin secretion.
Conclusions. We propose that transient and permanent forms of neonatal diabetes mellitus have different genetic background and represent different disease entities. TND is associated with UPD of chromosome 6 suggesting that an imprinted gene on chromosome 6 is responsible for this phenotype. It seems that 2 copies of the paternal allele are necessary for the development of TND; therefore, it is likely that overexpression of a putative gene located on chromosome 6 alters pancreatic beta-cell maturation and insulin secretion.
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