Results 21 to 30 of about 14,116 (173)

GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation [PDF]

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2012
GCK-MODY, dominantly inherited mild fasting hyperglycemia, has been associated with >600 different mutations in the glucokinase (GK)-encoding gene (GCK). When expressed as recombinant pancreatic proteins, some mutations result in enzymes with normal/near-
Søvik, Oddmund, Negahdar, Maria, Flatmark, Torgeir, Bjørkhaug, Lise, Njølstad, Pål Rasmus, Aukrust, Ingvild, Molnes, Janne, Kulkarni, Rohit N., Johansson, Bente B., Matschinsky, Franz M., Molven, Anders   +10 more
core   +3 more sources

GCK-MODY (MODY 2) Caused by a Novel p.Phe330Ser Mutation

ISRN Pediatrics, 2011
Maturity onset diabetes of the young (MODY) is a monogenic form of diabetes inherited as an autosomal dominant trait. The second most common cause is GCK-MODY due to heterozygous mutations in theGCKgene which impair the glucokinase function through ...
Sandra Hermanns, Gabriele Eder, Walter Bonfig, Annette Gabriele Ziegler, Stefan Burdach, Katharina Warncke, Ilse Engelsberger, Peter Lohse   +7 more
core   +3 more sources

GCK-MODY in a child with cystic fibrosis: The doubt of the treatment plan

Journal of Pediatric Endocrinology and Metabolism, 2020
The diagnosis of cystic fibrosis related diabetes (CFRD) is not often easy as glucose homeostasis may be influenced by various disease-related conditions such as enteral continuous drip feeding, frequent acute illness, use of systemic corticosteroids and
Lucanto M. C., Pajno G. B., Passanisi S., Lombardo F., Costa S., Salzano G.   +5 more
core   +4 more sources

Prediction of maturity-onset diabetes of the young subtypes using machine learning [PDF]

Frontiers in Digital Health
IntroductionMaturity-onset diabetes of the young (MODY) is a monogenic type of diabetes caused by different pathogenic genetic variants in glucose metabolism-related genes, with GCK-MODY and HFN1A-MODY subtypes being the most frequent.
Israel Figueroa, Israel Figueroa, Ricardo Flores, Andrea Millán, Alejandro de Dios, Gustavo Daniel Frechtel, Ariel Pablo López, Ariel Pablo López, Daniela Mennickent   +8 more
doaj   +2 more sources

Genotype, Phenotype, and Clinical Characteristics of Maturity-Onset Diabetes of the Young (MODY): Predominance of <i>GCK</i>-MODY [PDF]

J Clin Res Pediatr Endocrinol
Objective: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes characterised by early-onset diabetes and inherited in an autosomal dominant manner.
Kayaş L, Akıncı A, Çamtosun E, Dündar İ, Çiftçi N, Esener Z, Tekedereli İ, Doğan M.   +7 more
europepmc   +2 more sources

Clinical implications of the glucokinase impaired function - GCK MODY today. [PDF]

Physiol Res, 2020
Heterozygous inactivating mutations of the glucokinase (GCK) gene are causing GCK-MODY, one of the most common forms of the Maturity Onset Diabetes of the Young (MODY). GCK-MODY is characterized by fasting hyperglycemia without apparent worsening with aging and low risk for chronic vascular complications.
Hulín J, Škopková M, Valkovičová T, Mikulajová S, Rosoľanková M, Papcun P, Gašperíková D, Staník J.   +7 more
europepmc   +3 more sources

Polygenic background contributes to GCK-MODY clinical presentation and glycaemic variability. [PDF]

Diabetologia
Abstract Aims/hypothesis GCK -MODY (glucokinase MODY) causes lifelong, mild hyperglycaemia with high penetrance. Variation in glycaemic phenotype among carriers remains unexplained.
Murray Leech J, Arni AM, Chundru VK, Sharp LN, Colclough K, Hattersley AT, Weedon MN, Patel KA.   +7 more
europepmc   +2 more sources

Pregnancy in Women With Monogenic Diabetes due to Pathogenic Variants of the Glucokinase Gene: Lessons and Challenges

Frontiers in Endocrinology, 2022
Heterozygous loss-of-function variants of the glucokinase (GCK) gene are responsible for a subtype of maturity-onset diabetes of the young (MODY). GCK-MODY is characterized by a mild hyperglycemia, mainly due to a higher blood glucose threshold for ...
José Timsit, José Timsit, José Timsit, Cécile Ciangura, Cécile Ciangura, Cécile Ciangura, Danièle Dubois-Laforgue, Danièle Dubois-Laforgue, Danièle Dubois-Laforgue, Danièle Dubois-Laforgue, Cécile Saint-Martin, Cécile Saint-Martin, Christine Bellanne-Chantelot, Christine Bellanne-Chantelot, Christine Bellanne-Chantelot   +14 more
doaj   +1 more source

Lipid profile indices in young people with GCK-MODY and HNF1A-MODY

Атеросклероз, 2022
Despite the fact that most young patients with hyperglycemia are diagnosed with type 1 (T1DM) and type 2 (T2DM) diabetes, up to 10 % of all cases of the disease are MODY diabetes.
Alla K. Ovsyannikova, Irina A. Belyaeva, Regina B. Galenok, Oksana D. Rymar   +3 more
doaj   +1 more source

A Comprehensive Analysis of Hungarian MODY Patients—Part II: Glucokinase MODY Is the Most Prevalent Subtype Responsible for about 70% of Confirmed Cases

Life, 2021
MODY2 is caused by heterozygous inactivating mutations in the glucokinase (GCK) gene that result in persistent, stable and mild fasting hyperglycaemia (5.6–8.0 mmol/L, glycosylated haemoglobin range of 5.6–7.3%).
Zsolt Gaál, Zsuzsanna Szűcs, Irén Kántor, Andrea Luczay, Péter Tóth-Heyn, Orsolya Benn, Enikő Felszeghy, Zsuzsanna Karádi, László Madar, István Balogh   +9 more
doaj   +1 more source