ABCMdb

PMID: 12565699

Seino S, Miki T
Physiological and pathophysiological roles of ATP-sensitive K+ channels.
Prog Biophys Mol Biol. 2003 Feb;81(2):133-76., [PubMed]

Sentences

No. Mutations Sentence Comment

999 ABCC8 p.Arg1420Cys Some mutations, such as SUR1-R1420C, which gives rise to a mild-form of patients with PHHI, have been shown to affect KATP channels only slightly (Matsuo et al., 2000). Login to comment 1000 ABCC8 p.Arg1420Cys The homozygous mutation SUR1-R1420C was found in a PHHI patient with focal adenomatous hyperplasia of pancreatic islets (Verkarre et al., 1998), and was shown to cause a mild-form of PHHI with clinical remission (Tanizawa et al., 2000) that is resistant to diazoxide treatment. Login to comment 1006 ABCC8 p.Glu1506Lys Recently, a mutation of SUR1 (SUR1-E1506K), which causes dominantly inherited PHHI, also has been shown to cause diabetes mellitus in later life (Huopio et al., 2000). Login to comment 1007 ABCC8 p.Arg1420Cys Some mutations, such as SUR1-R1420C, which gives rise to a mild-form of patients with PHHI, have been shown to affect KATP channels only slightly (Matsuo et al., 2000). Login to comment 1008 ABCC8 p.Arg1420Cys The homozygous mutation SUR1-R1420C was found in a PHHI patient with focal adenomatous hyperplasia of pancreatic islets (Verkarre et al., 1998), and was shown to cause a mild-form of PHHI with clinical remission (Tanizawa et al., 2000) that is resistant to diazoxide treatment. Login to comment 1014 ABCC8 p.Glu1506Lys Recently, a mutation of SUR1 (SUR1-E1506K), which causes dominantly inherited PHHI, also has been shown to cause diabetes mellitus in later life (Huopio et al., 2000). Login to comment