Identification of pathogenic GCK variants in patients with common type 2 diabetes can lead to discontinuation of pharmacological treatment

Autor: Thuesen, Anne Cathrine Baun, Jensen, Rasmus Tanderup, Maagensen, Henrik, Kristiansen, Maja Refshauge, Sørensen, Henrik Toft, Vaag, Allan, Beck-Nielsen, Henning, Pedersen, Oluf B., Grarup, Niels, Nielsen, Jens Steen, Rungby, Jørgen, Gjesing, Anette Prior, Storgaard, Heidi, Vilsbøll, Tina, Hansen, Torben

Publikováno v: Thuesen, A C B, Jensen, R T, Maagensen, H, Kristiansen, M R, Sørensen, H T, Vaag, A, Beck-Nielsen, H, Pedersen, O B, Grarup, N, Nielsen, J S, Rungby, J, Gjesing, A P, Storgaard, H, Vilsbøll, T & Hansen, T 2023, ' Identification of pathogenic GCK variants in patients with common type 2 diabetes can lead to discontinuation of pharmacological treatment ', Molecular Genetics and Metabolism Reports, vol. 35, 100972 . https://doi.org/10.1016/j.ymgmr.2023.100972
Mol Genet Metab Rep

Background: Functionally disruptive variants in the glucokinase gene (GCK) cause a form of mild non-progressive hyperglycemia, which does not require pharmacological treatment. A substantial proportion of patients with type 2 diabetes (T2D) carry GCK

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55a82d8eadf5b37f2de41db6df1c8922
https://pure.au.dk/portal/da/publications/identification-of-pathogenic-gck-variants-in-patients-with-common-type-2-diabetes-can-lead-to-discontinuation-of-pharmacological-treatment(7ba6efbd-a7a6-428b-8011-fd83dc1c6958).html

Diabetes Mellitus With Renal and Müllerian Anomalies

Autor: Aaron Chapla, Khushboo Agarwal, Anuradha Chandramohan, Felix K Jebasingh, Chandra Singh, Nihal Thomas

Publikováno v: AACE Clinical Case Reports, Vol 8, Iss 1, Pp 22-24 (2022)
AACE Clinical Case Reports

Objective Maturity-onset diabetes of the young (MODY) type 5 is caused by an autosomal dominant mutation in the HNF1B gene. Our objective was to report a case of a young girl with bicornuate uterus and recurrent renal stones with diabetes mellitus (D

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b4e7dea9c91499e2d91c43062129ed8
https://doi.org/10.1016/j.aace.2021.06.012

In celebration of a century with insulin - Update of insulin gene mutations in diabetes

Autor: Julie Støy, Elisa De Franco, Soo-Young Park, Graeme I. Bell, Andrew T. Hattersley, Honggang Ye

Publikováno v: Støy, J, De Franco, E, Ye, H, Park, S-Y, Bell, G I & Hattersley, A T 2021, ' In celebration of a century with insulin-Update of insulin gene mutations in diabetes ', Molecular Metabolism, vol. 52, 101280 . https://doi.org/10.1016/j.molmet.2021.101280
Molecular Metabolism
Molecular Metabolism, Vol 52, Iss, Pp 101280-(2021)

Background While insulin has been central to the pathophysiology and treatment of patients with diabetes for the last 100 years, it has only been since 2007 that genetic variation in the INS gene has been recognised as a major cause of monogenic diab

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fe3b0c08fc12fcc42477cbda1604428
https://pure.au.dk/portal/da/publications/in-celebration-of-a-century-with-insulin--update-of-insulin-gene-mutations-in-diabetes(2d64cd69-b90f-4f81-843c-d31cad5c6c19).html

Overexpression of ST5, an activator of Ras, has no effect on β-cell proliferation in adult mice

Autor: Jia Zhang, Klaus H. Kaestner, Kristy Ou, Zhao V. Wang, Phillipp Scherer, Yang Jiao

Publikováno v: Molecular Metabolism
Molecular Metabolism, Vol 11, Iss, Pp 212-217 (2018)

Objective Both Type I and Type II diabetes mellitus result from insufficient functional β-cell mass. Efforts to increase β-cell proliferation as a means to restore β-cell mass have been met with limited success. Suppression of Tumorigenicity 5 (ST

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6cb32edef3707abead555b72e794c88
http://europepmc.org/articles/PMC6001393

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