Zobrazeno 1 - 10
of 104
pro vyhledávání: '"MODY 2"'
Publikováno v:
Balkan Journal of Medical Genetics, Vol 25, Iss 1, Pp 89-92 (2023)
Maturity-onset diabetes of the young (MODY) is the most common monogenic form of diabetes, accounting for 1-2% of all diabetes cases. At least 14 different MODY subtypes have been identified the most common of which is MODY 2 caused by mutations in t
Externí odkaz:
https://doaj.org/article/e4398a590491408a8dd383b63b5ac7cb
Akademický článek
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Akademický článek
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Publikováno v:
Genetics & Applications, Vol 2, Iss 2, Pp 73-77 (2018)
MODY (maturity-onset diabetes of the young) is an autosomal dominant form of diabetes that is usually manifested before the 25-year of life. This type of diabetes is caused by defects in the primary insulin secretion. There are several types of MODY,
Autor:
Lorenzo Stufera Mecarelli, Elisa Mascolo, Angela Tramonti, Susanna Amadio, Cinzia Volonté, Francesco Liguori, Noemi Amoroso, Roberto Contestabile, Fiammetta Vernì, Chiara Merigliano
Publikováno v:
International Journal of Molecular Sciences
Volume 22
Issue 2
International journal of molecular sciences (Online) 22 (2021): 918. doi:10.3390/ijms22020918
info:cnr-pdr/source/autori:Mascolo E, Liguori F, Stufera Mecarelli L, Amoroso N, Merigliano C, Amadio S, Cinzia Volonté, Contestabile R, Tramonti A, Vernì F/titolo:Functional inactivation of Drosophila GCK orthologs causes genomic instability and oxidative stress in a fly model of MODY-2/doi:10.3390%2Fijms22020918/rivista:International journal of molecular sciences (Online)/anno:2021/pagina_da:918/pagina_a:/intervallo_pagine:918/volume:22
International Journal of Molecular Sciences, Vol 22, Iss 918, p 918 (2021)
Volume 22
Issue 2
International journal of molecular sciences (Online) 22 (2021): 918. doi:10.3390/ijms22020918
info:cnr-pdr/source/autori:Mascolo E, Liguori F, Stufera Mecarelli L, Amoroso N, Merigliano C, Amadio S, Cinzia Volonté, Contestabile R, Tramonti A, Vernì F/titolo:Functional inactivation of Drosophila GCK orthologs causes genomic instability and oxidative stress in a fly model of MODY-2/doi:10.3390%2Fijms22020918/rivista:International journal of molecular sciences (Online)/anno:2021/pagina_da:918/pagina_a:/intervallo_pagine:918/volume:22
International Journal of Molecular Sciences, Vol 22, Iss 918, p 918 (2021)
Maturity-onset diabetes of the young (MODY) type 2 is caused by heterozygous inactivating mutations in the gene encoding glucokinase (GCK), a pivotal enzyme for glucose homeostasis. In the pancreas GCK regulates insulin secretion, while in the liver
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3db843d4d4385fe1713e43ecabc08e32
http://hdl.handle.net/11573/1486133
http://hdl.handle.net/11573/1486133
Autor:
Gönül Çatlı, Bumin Dündar, Hayrullah Manyas, İlkay Ayranci, Ozgur Kirbiyik, Berna Eroğlu Filibeli
Publikováno v:
Hormones (Athens, Greece). 21(1)
Purpose Heterozygous loss-of-function mutations in the glucokinase (GCK) gene cause MODY 2, which is characterized by asymptomatic fasting hyperglycemia and does not require insulin treatment. Conversely, homozygous loss-of-function mutations in the
Autor:
Liping Du, John Virostko, Alvin C. Powers, Hakmook Kang, William E. Russell, Jonathan M. Williams, Siri Atma W. Greeley, Daniel J. Moore, Jordan J. Wright, Melissa A. Hilmes
Publikováno v:
Diabetes. 69
Individuals with new-onset type 1 diabetes (T1D) have a smaller pancreas volume, which declines further during the first years after diagnosis. Whether this reflects the insulin deficiency associated with T1D or the underlying process leading to T1D
Publikováno v:
Human Genome Variation
Human Genome Variation, Vol 7, Iss 1, Pp 1-3 (2020)
Human Genome Variation, Vol 7, Iss 1, Pp 1-3 (2020)
Glucokinase-maturity-onset diabetes of the young (GCK-MODY or MODY 2), caused by a heterozygous inactivating variant in the Glucokinase (GCK) gene, is a common form of MODY. Here, we present a case of GCK-MODY in a young Chinese boy, his sister and h
Autor:
Catarina I Gonçalves, Leonor Gomes, Joana T Almeida, Carla Baptista, Daniela Guelho, Miguel Melo, Isabel Dinis, Maria Manuela Estima Gomes, Joana Saraiva, Manuel C. Lemos, Maria Inês Alvelos, Sofia Martins, Luísa Barros, Diana Martins, Alice Mirante, Margarida Bastos, Carolina Moreno, Eduarda Coutinho, Mara Ventura, Maria L Sampaio, Bernardo Dias Pereira, Susana Gama-de-Sousa
Publikováno v:
Journal of Clinical Medicine, Vol 9, Iss 1, p 288 (2020)
Journal of Clinical Medicine
Volume 9
Issue 1
Journal of Clinical Medicine
Volume 9
Issue 1
Maturity-onset diabetes of the young (MODY) is a frequently misdiagnosed type of diabetes, which is characterized by early onset, autosomal dominant inheritance, and absence of insulin dependence. The most frequent subtypes are due to mutations of th
Publikováno v:
Case Reports in Obstetrics and Gynecology
Case Reports in Obstetrics and Gynecology, Vol 2018 (2018)
Case Reports in Obstetrics and Gynecology, Vol 2018 (2018)
Background. ‘Maturity-Onset Diabetes of the Young’ (MODY) or monogenic diabetes accounts for approximately 1–2% of diabetes and is frequently misdiagnosed as type 1 or type 2 diabetes. Here we report a case of a 19-year-old pregnant woman with