Cargando…

Functional Characterization of a Novel Heterozygous Mutation in the Glucokinase Gene That Causes MODY2 in Chinese Pedigrees

BACKGROUND: Glucokinase (GCK) plays a central role in glucose regulation. The heterozygous mutations of GCK can cause a monogenic form of diabetes, maturity-onset diabetes of the young (MODY) directly. In our study, we aimed to explore the mechanism of the novel mutation GCK p.Ala259Thr leading to g...

Descripción completa

Detalles Bibliográficos
Autores principales:	Jiang, Feng, Yan, Jing, Zhang, Rong, Ma, Xiaojing, Bao, Yuqian, Gu, Yujuan, Hu, Cheng
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Endocrinology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8695754/ https://www.ncbi.nlm.nih.gov/pubmed/34956103 http://dx.doi.org/10.3389/fendo.2021.803992

Ejemplares similares

Heterozygous lys169Glu mutation of glucokinase gene in a Chinese family having glucokinase-maturity-onset diabetes of the young (GCK-MODY)
por: Zhou, W, et al.
Publicado: (2019)

Glucokinase (GCK) Mutations and Their Characterization in MODY2 Children of Southern Italy
por: Capuano, Marina, et al.
Publicado: (2012)

Phenotypic and Genetic Heterogeneity in a Thai Glucokinase MODY Family Reveals the Complexity of Young-Onset Diabetes
por: Thewjitcharoen, Yotsapon, et al.
Publicado: (2021)

Clinical Heterogeneity in Monogenic Diabetes Caused by Mutations in the Glucokinase Gene (GCK-MODY)
por: Cuesta-Muñoz, Antonio L., et al.
Publicado: (2010)

Compound heterozygous mutations in CFTR causing CBAVD in Chinese pedigrees
por: Yang, Bin, et al.
Publicado: (2018)

Identification and Characterization of Two Novel Compounds: Heterozygous Variants of Lipoprotein Lipase in Two Pedigrees With Type I Hyperlipoproteinemia
por: Wang, Shuping, et al.
Publicado: (2022)

Functional Characterization of MODY2 Mutations Highlights the Importance of the Fine-Tuning of Glucokinase and Its Role in Glucose Sensing
por: García-Herrero, Carmen-María, et al.
Publicado: (2012)

Genetic and clinical characteristics of Chinese children with Glucokinase-maturity-onset diabetes of the young (GCK-MODY)
por: Li, Xiuzhen, et al.
Publicado: (2018)

Glucokinase Gene Mutations: Structural and Genotype-Phenotype Analyses in MODY Children from South Italy
por: Tinto, Nadia, et al.
Publicado: (2008)

Metabolite Profiling Reveals Normal Metabolic Control in Carriers of Mutations in the Glucokinase Gene (MODY2)
por: Spégel, Peter, et al.
Publicado: (2013)

A Novel Mutation of the Glucokinase Gene in Maturity-onset Diabetes of the Young Type 2 (MODY2)
por: Jo, Wakako, et al.
Publicado: (2010)

Susceptibility of Glucokinase-MODY Mutants to Inactivation by Oxidative Stress in Pancreatic β-Cells
por: Cullen, Kirsty S., et al.
Publicado: (2011)

Phenotype Heterogeneity in Glucokinase–Maturity-Onset Diabetes of the Young (GCK-MODY) Patients
por: Wędrychowicz, Anna, et al.
Publicado: (2017)

Characterization of a Missense Mutation in the Catalytic Domain and a Splicing Mutation of Coagulation Factor X Compound Heterozygous in a Chinese Pedigree
por: Feng, Yuanzheng, et al.
Publicado: (2021)

SUN-270 Heterozygous Mutation in ABCC8 in a Pedigree with Congenital Hyperinsulinism, Multiple Macrosomic Stillbirths, and Adult-Onset Diabetes Mellitus
por: Ludwig, Karissa, et al.
Publicado: (2019)

Novel compound heterozygous mutations in ABCA4 in a Chinese pedigree with Stargardt disease
por: Zhang, Jianping, et al.
Publicado: (2016)

Novel heterozygous BPIFC variant in a Chinese pedigree with hereditary trichilemmal cysts
por: Fu, Xian‐Guo, et al.
Publicado: (2019)

Identification and precision therapy for three maturity-onset diabetes of the young (MODY) families caused by mutations in the HNF4A gene
por: Zhang, Juan, et al.
Publicado: (2023)

Precision therapy for three Chinese families with maturity-onset diabetes of the young (MODY12)
por: Li, Juyi, et al.
Publicado: (2022)

The Challenges of Treating Glucokinase MODY during Pregnancy: A Review of Maternal and Fetal Outcomes
por: Kirzhner, Alena, et al.
Publicado: (2022)

Phenotype variability and neonatal diabetes in a large family with heterozygous mutation of the glucokinase gene
por: Borowiec, Maciej, et al.
Publicado: (2011)

A rare splice site mutation in the gene encoding glucokinase/hexokinase 4 in a patient with MODY type 2
por: Ivanoshchuk, D.E., et al.
Publicado: (2020)

A Comprehensive Analysis of Hungarian MODY Patients—Part II: Glucokinase MODY Is the Most Prevalent Subtype Responsible for about 70% of Confirmed Cases
por: Gaál, Zsolt, et al.
Publicado: (2021)

Hereditary coagulation factor VII deficiency caused by novel compound heterozygous mutations in a Chinese pedigree: A case report
por: Cai, Ruimin, et al.
Publicado: (2022)

Letter to the Editor: Stress Hyperglycemia or Glucokinase Maturity Onset Diabetes of the Young (GCK-MODY) or Both?
por: Doherty-Kirby, Amanda
Publicado: (2023)

Characterization of Behavioral Phenotypes in Heterozygous DAT Rat Based on Pedigree
por: Zanfino, Gioia, et al.
Publicado: (2023)

Identification and characterization of novel compound heterozygous variants in FSHR causing primary ovarian insufficiency with resistant ovary syndrome
por: Chen, Xiaopan, et al.
Publicado: (2023)

ABCC8-Related Maturity-Onset Diabetes of the Young (MODY12): A Report of a Chinese Family
por: Lin, Leweihua, et al.
Publicado: (2020)

Heterozygous HTRA1 Mutations Cause Cerebral Small Vessel Diseases: Genetic, Clinical, and Pathologic Findings From 3 Chinese Pedigrees
por: Yao, Tingyan, et al.
Publicado: (2022)

Novel Compound Heterozygous Pathogenic Mutations of SLC5A5 in a Chinese Patient With Congenital Hypothyroidism
por: Zhang, Cao-Xu, et al.
Publicado: (2021)

Hidden MODY—Looking for a Needle in a Haystack
por: Urbanová, Jana, et al.
Publicado: (2018)

Thyroid hormone resistance syndrome caused by heterozygous A317T mutation in thyroid hormone receptor β gene: Report of one Chinese pedigree and review of the literature
por: Guo, Qing-Hua, et al.
Publicado: (2016)

Glucokinase Deficit Prevalence in Women With Diabetes in Pregnancy: A Matter of Screening Selection
por: Bitterman, Olimpia, et al.
Publicado: (2020)

Evaluation of efficacy and safety of glucokinase activators—a systematic review and meta-analysis
por: Yang, Wenjia, et al.
Publicado: (2023)

Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree
por: Zhou, Yong‐An, et al.
Publicado: (2019)

Identification of a novel compound heterozygous mutation of the CYP21A2 gene causing 21-hydroxylase deficiency in a Chinese pedigree
por: Liu, Jia, et al.
Publicado: (2018)

Pregnancy in Women With Monogenic Diabetes due to Pathogenic Variants of the Glucokinase Gene: Lessons and Challenges
por: Timsit, José, et al.
Publicado: (2022)

Glucokinase regulatory protein: a balancing act between glucose and lipid metabolism in NAFLD
por: Zhang, Ziqi, et al.
Publicado: (2023)

Sequencing MODY1-6 genes in Uyghur Early-onset diabetes pedigree
por: Nuli, Rebiya, et al.
Publicado: (2011)

Hyperglycemia Induced by Glucokinase Deficiency Accelerates Atherosclerosis Development and Impairs Lesion Regression in Combined Heterozygous Glucokinase and the Apolipoprotein E-Knockout Mice
por: Adingupu, Damilola D., et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_g9fm3de81i8o4vipfe27olt677