A rare splice site mutation in the gene encoding glucokinase/hexokinase 4 in a patient with MODY type 2

Autor: Ivanoshchuk DE, Ev, Shakhtshneider, Alla Ovsyannikova, Sv, Mikhailova, Od, Rymar, Vi, Oblaukhova, Aa, Yurchenko, Mi, Voevoda

Publikováno v: Europe PubMed Central
Vavilov Journal of Genetics and Breeding

The article presents a variant of maturity onset diabetes of the young type 2, caused by a rare mutation in the GCK gene. Maturity onset diabetes of the young (MODY) is a hereditary form of diabetes with an autosomal dominant type of inheritance, an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8d5de4c0c100544b511ee80e2e45ef09
http://europepmc.org/abstract/med/33659812

The Impact of Hypoglycemic Therapy on the Prognosis for Acute Coronary Syndrome in Patients with Type 2 Diabetes.

Autor: Nikolaev KY; Institute of Internal and Preventive Medicine-Branch of Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, 175/1 Borisa Bogatkova Str., Novosibirsk 630089, Russia., Shevela AI; Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences, 8 Ak. Lavrentiev, Novosibirsk 630090, Russia., Mustafina SV; Institute of Internal and Preventive Medicine-Branch of Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, 175/1 Borisa Bogatkova Str., Novosibirsk 630089, Russia., Rymar OD; Institute of Internal and Preventive Medicine-Branch of Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, 175/1 Borisa Bogatkova Str., Novosibirsk 630089, Russia., Ovsyannikova AK; Institute of Internal and Preventive Medicine-Branch of Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, 175/1 Borisa Bogatkova Str., Novosibirsk 630089, Russia., Zelenskaya EM; Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences, 8 Ak. Lavrentiev, Novosibirsk 630090, Russia., Kovaleva AY; Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences, 8 Ak. Lavrentiev, Novosibirsk 630090, Russia., Lifshits GI; Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences, 8 Ak. Lavrentiev, Novosibirsk 630090, Russia.

Publikováno v: Journal of personalized medicine [J Pers Med] 2022 May 22; Vol. 12 (5). Date of Electronic Publication: 2022 May 22.

The Mutation Spectrum of Maturity Onset Diabetes of the Young (MODY)-Associated Genes among Western Siberia Patients.

Autor: Ivanoshchuk DE; Federal Research Center Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences (SB RAS), Prospekt Lavrentyeva 10, 630090 Novosibirsk, Russia.; Institute of Internal and Preventive Medicine-Branch of Institute of Cytology and Genetics, SB RAS, Bogatkova Str. 175/1, 630004 Novosibirsk, Russia., Shakhtshneider EV; Federal Research Center Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences (SB RAS), Prospekt Lavrentyeva 10, 630090 Novosibirsk, Russia.; Institute of Internal and Preventive Medicine-Branch of Institute of Cytology and Genetics, SB RAS, Bogatkova Str. 175/1, 630004 Novosibirsk, Russia., Rymar OD; Institute of Internal and Preventive Medicine-Branch of Institute of Cytology and Genetics, SB RAS, Bogatkova Str. 175/1, 630004 Novosibirsk, Russia., Ovsyannikova AK; Institute of Internal and Preventive Medicine-Branch of Institute of Cytology and Genetics, SB RAS, Bogatkova Str. 175/1, 630004 Novosibirsk, Russia., Mikhailova SV; Federal Research Center Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences (SB RAS), Prospekt Lavrentyeva 10, 630090 Novosibirsk, Russia., Fishman VS; Federal Research Center Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences (SB RAS), Prospekt Lavrentyeva 10, 630090 Novosibirsk, Russia., Valeev ES; Federal Research Center Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences (SB RAS), Prospekt Lavrentyeva 10, 630090 Novosibirsk, Russia., Orlov PS; Federal Research Center Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences (SB RAS), Prospekt Lavrentyeva 10, 630090 Novosibirsk, Russia.; Institute of Internal and Preventive Medicine-Branch of Institute of Cytology and Genetics, SB RAS, Bogatkova Str. 175/1, 630004 Novosibirsk, Russia., Voevoda MI; Federal Research Center Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences (SB RAS), Prospekt Lavrentyeva 10, 630090 Novosibirsk, Russia.

Publikováno v: Journal of personalized medicine [J Pers Med] 2021 Jan 18; Vol. 11 (1). Date of Electronic Publication: 2021 Jan 18.

Analysis of APPL1 Gene Polymorphisms in Patients with a Phenotype of Maturity Onset Diabetes of the Young.

Autor: Ivanoshchuk DE; Federal research center Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences (SB RAS), Prospekt Lavrentyeva 10, Novosibirsk 630090, Russia.; Institute of Internal and Preventive Medicine-Branch of Institute of Cytology and Genetics, SB RAS, Bogatkova Str. 175/1, Novosibirsk 630004, Russia., Shakhtshneider EV; Federal research center Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences (SB RAS), Prospekt Lavrentyeva 10, Novosibirsk 630090, Russia.; Institute of Internal and Preventive Medicine-Branch of Institute of Cytology and Genetics, SB RAS, Bogatkova Str. 175/1, Novosibirsk 630004, Russia., Rymar OD; Institute of Internal and Preventive Medicine-Branch of Institute of Cytology and Genetics, SB RAS, Bogatkova Str. 175/1, Novosibirsk 630004, Russia., Ovsyannikova AK; Institute of Internal and Preventive Medicine-Branch of Institute of Cytology and Genetics, SB RAS, Bogatkova Str. 175/1, Novosibirsk 630004, Russia., Mikhailova SV; Federal research center Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences (SB RAS), Prospekt Lavrentyeva 10, Novosibirsk 630090, Russia., Orlov PS; Federal research center Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences (SB RAS), Prospekt Lavrentyeva 10, Novosibirsk 630090, Russia.; Institute of Internal and Preventive Medicine-Branch of Institute of Cytology and Genetics, SB RAS, Bogatkova Str. 175/1, Novosibirsk 630004, Russia., Ragino YI; Institute of Internal and Preventive Medicine-Branch of Institute of Cytology and Genetics, SB RAS, Bogatkova Str. 175/1, Novosibirsk 630004, Russia., Voevoda MI; Federal research center Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences (SB RAS), Prospekt Lavrentyeva 10, Novosibirsk 630090, Russia.

Publikováno v: Journal of personalized medicine [J Pers Med] 2020 Aug 25; Vol. 10 (3). Date of Electronic Publication: 2020 Aug 25.

[Erratum: The forearm fractures in patients with diabetes and without diabetes in population sample aged over 50 years (Novosibirsk) (Problems of Endocrinology (2019) 65(2) DOI: 10.14341/probl9799)].

Autor: Mazurenko ES; Research Institute of Internal and Preventive Medicine - Branch of the Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences.; Novosibirsk Research Institute of Traumatology and Orthopaedics n.a. Ya.L. Tsivyan., Malyutina SK; Research Institute of Internal and Preventive Medicine - Branch of the Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences., Shcherbakova LV; Research Institute of Internal and Preventive Medicine - Branch of the Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences., Mustafina SV; Research Institute of Internal and Preventive Medicine - Branch of the Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences., Nikitenko TM; Research Institute of Internal and Preventive Medicine - Branch of the Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences., Bobak M; University College London., Rymar OD; Research Institute of Internal and Preventive Medicine - Branch of the Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences.

Publikováno v: Problemy endokrinologii [Probl Endokrinol (Mosk)] 2019 Dec 25; Vol. 65 (4), pp. e1-e2. Date of Electronic Publication: 2019 Dec 25.