Cargando…

Clinical Heterogeneity in Monogenic Diabetes Caused by Mutations in the Glucokinase Gene (GCK-MODY)

OBJECTIVE: To evaluate the heterogeneity in the clinical expression in a family with glucokinase mature-onset diabetes of the young (GCK-MODY). RESEARCH DESIGN AND METHODS: Members (three generations) of the same family presented either with overt neonatal hyperglycemia, marked postprandial hypergly...

Descripción completa

Detalles Bibliográficos
Autores principales:	Cuesta-Muñoz, Antonio L., Tuomi, Tiinamaija, Cobo-Vuilleumier, Nadia, Koskela, Hanna, Odili, Stella, Stride, Amanda, Buettger, Carol, Otonkoski, Timo, Froguel, Philippe, Grimsby, Joseph, Garcia-Gimeno, Maria, Matschinsky, Franz M.
Formato:	Texto
Lenguaje:	English
Publicado:	American Diabetes Association 2010
Materias:	Original Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2809268/ https://www.ncbi.nlm.nih.gov/pubmed/19903754 http://dx.doi.org/10.2337/dc09-0681

Ejemplares similares

Extremes of Clinical and Enzymatic Phenotypes in Children With Hyperinsulinism Caused by Glucokinase Activating Mutations
por: Sayed, Samir, et al.
Publicado: (2009)

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

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

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

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

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

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

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)

GCK exonic mutations induce abnormal biochemical activities and result in GCK-MODY
por: Dai, Tongtong, et al.
Publicado: (2023)

Ebb and Tide of Glucokinase
por: Matschinsky, Franz M.
Publicado: (2001)

Glucokinase Activators for Diabetes Therapy: May 2010 status report
por: Matschinsky, Franz M., et al.
Publicado: (2011)

MODY2 in Asia: analysis of GCK mutations and clinical characteristics
por: Zhou, Yuan, et al.
Publicado: (2020)

GCK-MODY (MODY 2) Caused by a Novel p.Phe330Ser Mutation
por: Bonfig, Walter, et al.
Publicado: (2011)

Glucokinase activators (GKAs) promise a new pharmacotherapy for diabetics
por: Matschinsky, Franz M, et al.
Publicado: (2010)

Interaction Effect of Genetic Polymorphisms in Glucokinase (GCK) and Glucokinase Regulatory Protein (GCKR) on Metabolic Traits in Healthy Chinese Adults and Adolescents
por: Tam, Claudia H.T., et al.
Publicado: (2009)

Single patient in GCK-MODY family successfully re-diagnosed into GCK-PNDM through targeted next-generation sequencing technology
por: Antosik, Karolina, et al.
Publicado: (2015)

Dairy Product Consumption Interacts with Glucokinase (GCK) Gene Polymorphisms Associated with Insulin Resistance
por: Da Silva, Marine S., et al.
Publicado: (2017)

Indentification of single base mutations in the GCK gene of patients with diagnosis of MODY2
por: da Rocha Carvalho Neto, Francisco Geraldo Mello, et al.
Publicado: (2015)

“Pesto” Mutation: Phenotypic and Genotypic Characteristics of Eight GCK/MODY Ligurian Patients
por: Salina, Alessandro, et al.
Publicado: (2023)

Circulating ghrelin level is higher in HNF1A–MODY and GCK–MODY than in polygenic forms of diabetes mellitus
por: Nowak, Natalia, et al.
Publicado: (2015)

Iatrogenic Hyperinsulinemia, Not Hyperglycemia, Drives Insulin Resistance in Type 1 Diabetes as Revealed by Comparison With GCK-MODY (MODY2)
por: Gregory, Justin M., et al.
Publicado: (2019)

Incidence of HNF1A and GCK MODY Variants in a South African Population
por: Matsha, Tandi E, et al.
Publicado: (2020)

Distinguishing the lipid profile of GCK-MODY patients and its correlation with hsCRP levels
por: Ping, Fan, et al.
Publicado: (2022)

Diagnosis and management of glucokinase monogenic diabetes in pregnancy: current perspectives
por: Rudland, Victoria L
Publicado: (2019)

Chronic Mild Hyperglycemia in GCK-MODY Patients Does Not Increase Carotid Intima-Media Thickness
por: Pruhova, Stepanka, et al.
Publicado: (2013)

Identification of GCK-MODY in cases of neonatal hyperglycemia: a case series and review of clinical features
por: Hughes, Alice E, et al.
Publicado: (2021)

GCK‐MODY in pregnancy: A pregnant woman with diabetes and a small‐for‐gestational‐age fetus
por: Yau, Tiffany Tse Ling, et al.
Publicado: (2022)

MODY probability calculator for GCK and HNF1A screening in a multiethnic background population
por: Tarantino, Roberta Magalhães, et al.
Publicado: (2019)

The Central Role of Glucokinase in Glucose Homeostasis: A Perspective 50 Years After Demonstrating the Presence of the Enzyme in Islets of Langerhans
por: Matschinsky, Franz M., et al.
Publicado: (2019)

Less but better: cardioprotective lipid profile of patients with GCK-MODY despite lower HDL cholesterol level
por: Fendler, Wojciech, et al.
Publicado: (2014)

Maturity-Onset Diabetes of the Young (MODY) in Portugal: Novel GCK, HNFA1 and HNFA4 Mutations
por: Alvelos, Maria I., et al.
Publicado: (2020)

Insights from basic adjunctive examinations of GCK‐MODY, HNF1A‐MODY, and type 2 diabetes: A systemic review and meta‐analysis
por: Liu, Jing, et al.
Publicado: (2023)

Common genetic variation in the glucokinase gene (GCK) is associated with type 2 diabetes and rates of carbohydrate oxidation and energy expenditure
por: Muller, Yunhua L., et al.
Publicado: (2014)

GCK gene mutations are a common cause of childhood‐onset MODY (maturity‐onset diabetes of the young) in Turkey
por: Haliloglu, Belma, et al.
Publicado: (2016)

A Novel GCK Large Genomic Rearrangement in a Patient with MODY-2 Detected by Clinical Exome Sequencing
por: Concolino, Paola, 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)

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

Atypical hyperglycemia presentation suggests considering a diagnostic of other types of diabetes: first reported GCK-MODY in Perú
por: Lizarzaburu-Robles, Juan Carlos, et al.
Publicado: (2020)

Genetic testing of GCK-MODY identifies a novel pathogenic variant in a Chinese boy with early onset hyperglycemia
por: Poon, Kok-Siong, et al.
Publicado: (2020)

Functional Inactivation of Drosophila GCK Orthologs Causes Genomic Instability and Oxidative Stress in a Fly Model of MODY-2
por: Mascolo, Elisa, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_pt4snulsg25v81mjmi0qpf7ft3