PMID: 18537706

Koehn J, Fountoulakis M, Krapfenbauer K
Multiple drug resistance associated with function of ABC-transporters in diabetes mellitus: molecular mechanism and clinical relevance.
Infect Disord Drug Targets. 2008 Jun;8(2):109-18., [PubMed]
Sentences
No. Mutations Sentence Comment
96 ABCC8 p.Asp209Glu
X
ABCC8 p.Asp209Glu 18537706:96:152
status: NEW
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 However, most of the ABCC8 mutations are unique to patients or families and not coherently associated with the disease phenotype, e.g. has the mutation D209E in the L0 domain of ABCC8 been identified in patients with permanent as well as temporary neonatal diabetes. Login to comment 130 ABCA1 p.Arg219Lys
X
ABCA1 p.Arg219Lys 18537706:130:101
status: NEW
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 In humans various studies link variations in ABCA1 to T2D [62, 63, 64, 65, 66] and the ABCA1 variant R219K has been associated with reduced responsiveness to the thiazolidinedione drug rosiglitazone used as insulin sensitizer in T2D [67]. Login to comment