Zobrazeno 1 - 10
of 758
pro vyhledávání: '"GCK"'
Autor:
Sara Asgarian, Hossein Lanjanian, Shiva Rahimipour Anaraki, Farzad Hadaegh, Maryam Moazzam-Jazi, Leila Najd-Hassan-Bonab, Sajedeh Masjoudi, Asiyeh Sadat Zahedi, Maryam Zarkesh, Bita Shalbafan, Mahdi Akbarzadeh, Sahand Tehrani Fateh, Davood Khalili, Amirabbas Momenan, Narges Sarbazi, Mehdi Hedayati, Fereidoun Azizi, Maryam S. Daneshpour
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-10 (2024)
Abstract Maturity-onset diabetes of the young (MODY) is an uncommon monogenic type of diabetes mellitus. Detecting genetic variants for MODY is a necessity for precise diagnosis and treatment. The majority of MODY genetic predisposition has been docu
Externí odkaz:
https://doaj.org/article/9cffd875dd33497eb13b7e36d072b360
Autor:
Sarah Gersing, Thea K. Schulze, Matteo Cagiada, Amelie Stein, Frederick P. Roth, Kresten Lindorff-Larsen, Rasmus Hartmann-Petersen
Publikováno v:
Genome Biology, Vol 25, Iss 1, Pp 1-22 (2024)
Abstract Background Amino acid substitutions can perturb protein activity in multiple ways. Understanding their mechanistic basis may pinpoint how residues contribute to protein function. Here, we characterize the mechanisms underlying variant effect
Externí odkaz:
https://doaj.org/article/ae336200514940dba9340a11b8a1aaa3
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Women with maturity-onset diabetes of the young (MODY) need tailored antenatal care and monitoring of their offspring. Each MODY subtype has different implications for glycaemic targets, treatment choices and neonatal management. Hyperglycaemia of MO
Externí odkaz:
https://doaj.org/article/88dc6f475ff64f6d90ccd14c1f6c5085
Autor:
Valérie M. Schwitzgebel, Jean-Louis Blouin, Barbara Dehos, Bettina Köhler-Ballan, Jardena J. Puder, Claudine Rieubland, Maria Triantafyllidou, Anne Zanchi, Marc Abramowicz, Thierry Nouspikel
Publikováno v:
Frontiers in Medicine, Vol 11 (2024)
BackgroundMutations in the GCK gene cause Maturity Onset Diabetes of the Young (GCK-MODY) by impairing glucose-sensing in pancreatic beta cells. During pregnancy, managing this type of diabetes varies based on fetal genotype. Fetuses carrying a GCK m
Externí odkaz:
https://doaj.org/article/e4add68890ec4c8bb0e802631da0d9d9
Akademický článek
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Publikováno v:
Clinical and Experimental Obstetrics & Gynecology, Vol 51, Iss 5, p 108 (2024)
Background: The correlation among Glucokinase (GCK) rs1799884 polymorphism and the risk of gestational diabetes mellitus (GDM) remains controversial, as previous studies have reported inconsistent findings. The potential relationship among the GCK rs
Externí odkaz:
https://doaj.org/article/bcd05ac292fb4d8baaf78097aa3eaa6f
Autor:
Cheng-Ting Lee, Wen-Hao Tsai, Chien-Ching Chang, Pei-Chun Chen, Cathy Shen-Jang Fann, Hsueh-Kai Chang, Shih-Yao Liu, Mu-Zon Wu, Pao-Chin Chiu, Wen-Ming Hsu, Wei-Shiung Yang, Ling-Ping Lai, Wen-Yu Tsai, Shi-Bing Yang, Pei-Lung Chen
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
ObjectiveCongenital hyperinsulinism (CHI) is a group of clinically and genetically heterogeneous disorders characterized by dysregulated insulin secretion. The aim of the study was to elucidate genetic etiologies of Taiwanese children with the most s
Externí odkaz:
https://doaj.org/article/1245d9fc0f6545668f7be7e04ecc5a60
Autor:
Neda Ansari, Vasudevan Ramachandran, Nur Afiqah Mohamad, Elnaz Salim, Patimah Ismail, Mohamad Hazmi, Liyana Najwa Inchee Mat
Publikováno v:
Global Medical Genetics, Vol 10, Iss 01, Pp 012-018 (2023)
Background Type 2 diabetes mellitus (T2DM) is a complex metabolic disorder, and the underlying causes remain unknown and have not been fully elucidated. Several candidate genes have been associated with T2DM in various populations with conflicting re
Externí odkaz:
https://doaj.org/article/b6c2cf513b054bc182a51b98df7c7ee6
Autor:
K. A. Aitbaev, I. T. Murkamilov, Zh. A. Murkamilova, V. V. Fomin, I. o Kudaibergenova, F. A. Yusupov
Publikováno v:
Архивъ внутренней медицины, Vol 12, Iss 6, Pp 430-437 (2022)
Maturity-Onset Diabetes of the Young (MODY) is the most common form of monogenic diabetes resulting from a single gene mutation. It is characterized by mild hyperglycemia, autosomal dominant inheritance, early onset diabetes (
Externí odkaz:
https://doaj.org/article/5ac88e8b52cb45868b49539a3344226a
Publikováno v:
Архивъ внутренней медицины, Vol 12, Iss 6, Pp 467-472 (2022)
GCK-MODY is one of the most common MODY variants (40–60 %) in the European population. It is possible to use continuous glucose monitoring systems (CGMS) when diagnosing GCK-MODY which allows for an analysis of glucose variability (GV) using mathem
Externí odkaz:
https://doaj.org/article/a5adc26e8d904c91ac6eaf00d5b54280