Clinical heterogeneity in monogenic diabetes caused by mutations in the glucokinase gene (GCK-MODY).
Clinical heterogeneity in monogenic diabetes caused by mutations in the glucokinase gene (GCK-MODY).
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DOI：
10.2337/dc09-0681
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发表时间：
2010-02
期刊：
影响因子：
16.2
通讯作者：
Matschinsky FM
中科院分区：
文献类型：
--
作者：
Cuesta-Muñoz AL;Tuomi T;Cobo-Vuilleumier N;Koskela H;Odili S;Stride A;Buettger C;Otonkoski T;Froguel P;Grimsby J;Garcia-Gimeno M;Matschinsky FM
To evaluate the heterogeneity in the clinical expression in a family with glucokinase mature-onset diabetes of the young (GCK-MODY). Members (three generations) of the same family presented either with overt neonatal hyperglycemia, marked postprandial hyperglycemia, or glucosuria. Homeostasis model assessment of insulin resistance (HOMAIR) and insulinogenic and disposition indexes were calculated. Oral glucose tolerance test (OGTT) results in the GCK mutation carriers from this family were compared with those from other subjects with GCK mutations in the same codon (GCK261), with other missense and other types of GCK mutations in different codons from the European MODY Consortium database (GCKm). Mutation G261R was found in the GCK gene. During the OGTT, glucose (P = 0.02) and insulin (P = 0.009) response at 2 h as well as at the 2-h glucose increment (GCK261 versus other missense GCK mutations, P = 0.003) were significantly higher in GCK261 than in GCKm carriers. Differing from other GCKm carriers, the glucose and insulin response to oral glucose was significantly higher in GCK261 carriers, indicating clinical heterogeneity in GCK-MODY.
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影响因子：
56.9
作者：
Grimsby, J;Sarabu, R;Grippo, JF
通讯作者：
Grippo, JF
影响因子：
8.2
作者：
Davis, EA;Cuesta-Muñoz, A;Matschinsky, FM
通讯作者：
Matschinsky, FM
最佳实践指南的成熟度糖尿病的分子遗传诊断。
影响因子：
8.2
作者：
Ellard, S.;Bellanne-Chantelot, C.;Hattersley, A. T.
通讯作者：
Hattersley, A. T.
影响因子：
158.5
作者：
FROGUEL, P;ZOUALI, H;COHEN, D
通讯作者：
COHEN, D
影响因子：
8.2
作者：
Stride, A;Vaxillaire, M;Hattersley, AT
通讯作者：
Hattersley, AT