Identification of two novel frameshift mutations in the KCNJ11 gene in two Italian patients affected by Congenital Hyperinsulinism of Infancy. (Articolo in rivista)

Type
Label
  • Identification of two novel frameshift mutations in the KCNJ11 gene in two Italian patients affected by Congenital Hyperinsulinism of Infancy. (Articolo in rivista) (literal)
Anno
  • 2007-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1016/j.yexmp.2006.11.006 (literal)
Alternative label
  • Biagiotti L, Proverbio MC, Bosio L, Gervasi F, Rovida E, Cerioni V, Bove M, Valin PS, Albarello L, Zamproni I, Grassi S, Doglioni C, Mora S, Chiumello G, Biunno I. (2007)
    Identification of two novel frameshift mutations in the KCNJ11 gene in two Italian patients affected by Congenital Hyperinsulinism of Infancy.
    in Experimental and molecular pathology (Print)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Biagiotti L, Proverbio MC, Bosio L, Gervasi F, Rovida E, Cerioni V, Bove M, Valin PS, Albarello L, Zamproni I, Grassi S, Doglioni C, Mora S, Chiumello G, Biunno I. (literal)
Pagina inizio
  • 59 (literal)
Pagina fine
  • 64 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 83 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali
  • 6 (literal)
Note
  • PubMe (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Department of Sciences and Biomedical Technologies, University of Milan, Italy Department of Pediatrics, Endocrine Unit, IRCCS San Raffaele Scientific Institute, Vita-Salute San Raffaele University, Milan, Italy Laboratory of Paediatric Endocrinology, IRCCS H San Raffaele, Milan, Italy Institute for Biomedical Technologies (National Research Council), Milan, Italy Kedrion S.p.A., Castelvecchio Pascoli–Barga (LU), Italy Department of Human Pathology, IRCCS San Raffaele Scientific Institute, Vita-Salute San Raffaele University, Milan, Italy (literal)
Titolo
  • Identification of two novel frameshift mutations in the KCNJ11 gene in two Italian patients affected by Congenital Hyperinsulinism of Infancy. (literal)
Abstract
  • Congenital Hyperinsulinism of Infancy (CHI) is a genetically heterogeneous disorder characterized by profound hypoglycemia related to inappropriate insulin secretion. Two histopathologically and genetically distinct groups are recognized among patients with CHI due to ATP-sensitive potassium channel (KATP) defects: a diffuse type (Di-CHI), which involves the whole pancreas, and a focal form (Fo-CHI), which shows adenomatous islet-cell hyperplasia of a particular area within the normal pancreas. The beta-cell KATP channel consists of two essential subunits: Kir6.2 encoded by the KCNJ11 gene which is the pore-forming unit and belongs to the inwardly rectifying potassium channel family, and SUR1 (sulfonylurea receptor 1) encoded by the ABCC8 gene, which belongs to the ATP-binding cassette (ABC) transporter family. The KATP channel is an octameric complex of four Kir6.2 and four SUR1 subunits. More than one hundred mutations have been found in KATP channel genes ABCC8 and KCNJ11, but to date only twenty mutations have been identified in KCNJ11, most of them are missense mutations and only one is a single base deletion. The Fo-CHI has been demonstrated to arise in individuals who have a (literal)
Prodotto di
Autore CNR

Incoming links:


Autore CNR di
Prodotto
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi
data.CNR.it