Results 31 to 40 of about 13,098 (176)

GCK rs1799884 Polymorphism and Gestational Diabetes Mellitus: A System Review and Meta-Analysis

Clinical and Experimental Obstetrics & Gynecology
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.
Yong Hu, Ao Wang, Ke Yi
doaj   +1 more source

Integrative clinicogenomic analysis of the monoallelic pathogenic substitution p.Thr228Met in the GCK gene as a nosological marker of type 3 diabetes (MODY 2) with a phenotype of moderate stable hyperglycemia and preserved β-cell secretory capacity

Клинический разбор в общей медицине
Monogenic forms of diabetes mellitus, collectively classified as MODY (Maturity Onset Diabetes of the Young), represent rare, genetically determined variants of the disease with an autosomal dominant inheritance pattern, typically manifesting at a young ...
Svyatoslav M. Yurin, Dmitry A. Apalkov, Tatiana A. Minenkova, Natalia S. Razinkova, Alexandra V. Serezhkina   +4 more
doaj   +1 more source

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

Frontiers in Endocrinology, 2021
BackgroundGlucokinase (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
Feng Jiang, Jing Yan, Rong Zhang, Xiaojing Ma, Yuqian Bao, Yujuan Gu, Cheng Hu, Cheng Hu   +7 more
doaj   +1 more source

Optimization and validation of luminescence-based detection of the GCK enzymatic reaction.

, 2014
(A) The assay (pH 7.1) contained 5 mM glucose, 0.4 mM ATP, 2 µM S6P, and was terminated after 75 minutes. Each data point is mean ± SEM for n = 4. (B) Effect of GKRP modulators on the luminescence reaction. The reaction included 15 nM GCK and 15 nM GKRP (
Min Shen (68726), Anna L. Gloyn (146286), Steve Titus (524536), Mindy I. Davis (105040), Anton Simeonov (85099), Anne Raimondo (524537), Francis S. Collins (82181), Matthew G. Rees (524535), Amy Barrett (166784)   +8 more
core   +1 more source

Two opposite phenotypes of glucose disorders in a family with heterozygous p.ser453leu (c.1358c> t) mutation in the glucokinase (gck) gene: Maturity onset diabetes in young and insulinoma

, 2022
Background. Heterozygous gain-of-function mutations in the glucokinase (GCK) gene cause hyperinsulinaemic hypoglycaemia (GCK-HI), while loss-of-function mutations lead to a monogenic type of diabetes (GCK-MODY). We, herein, report a heterozygous GCK gene
Demirbilek, Hamza, Çelebi, Hamide Betül Çelebi, Demiral, Meliha, Demirbilek, HÜSEYİN, Eren, E, Yerci, O, Demiral, M, Çelebi, H B G, Cander, S   +8 more
core   +1 more source

Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy. [PDF]

PLoS ONE, 2008
BACKGROUND: Maturity onset diabetes of the young type 2 (or GCK MODY) is a genetic form of diabetes mellitus provoked by mutations in the glucokinase gene (GCK). METHODOLOGY/PRINCIPAL FINDINGS: We screened the GCK gene by direct sequencing in 30 patients
Nadia Tinto, Adriana Zagari, Marina Capuano, Alfonso De Simone, Valentina Capobianco, Gerardo Daniele, Michela Giugliano, Raffaella Spadaro, Adriana Franzese, Lucia Sacchetti   +9 more
doaj   +1 more source

A novel genetic mutation in a Turkish family with GCK-MODY

, 2017
Glucokinase-maturity-onset diabetes of the young (GCK-MODY) is an autosomal dominantly inherited disease caused by heterozygous inactivating mutations in the glucokinase gene. It usually presents with mild fasting hyperglycemia. Here, we present an obese
Mengen E., Gunindi F., Ahmet Ucakturk S., Ceylaner S., Yuksel B., Elmaogulları S., YÜKSEL, BİLGİN, Ahmet Ucakturk, S., Gunindi, Figen, CEYLANER, SERDAR, Elmaogulları, Selin, Mengen, Eda   +11 more
core   +1 more source

Biochemically Constrained Multi‐Omics Integration Reveals Protein–Metabolite Dependencies Across Diseases

Advanced Science, EarlyView.
ProMetNet introduces a biologically constrained deep learning framework for proteo‐metabolomic integration by embedding Reactome‐derived pathway topology into neural networks. It captures non‐linear molecular dependencies and pathway‐level metabolic reorganization, enabling interpretable discrimination.
Minghui Zhao, Na Zhou, Ruotong Liu, Xiaofei Li, Jian Li, Fuzhong Xue, Qingzhen Hou   +6 more
wiley   +1 more source

Mechanism of GCK kinetic cooperativity.

, 2012
(A) The small domain of unliganded GCK is intrinsically disordered, giving rise to a broad conformational ensemble. (B) Glucose binding, activator binding, or an activating PHHI-associated mutation promotes folding of the disordered regions in the small ...
Mioara Larion (110035), Brian G. Miller (110045), Lei Bruschweiler-Li (110042), Roberto Kopke Salinas (110039), Rafael Brüschweiler (110049)   +4 more
core   +1 more source

Enhancing Meat Quality Through Dietary Fiber: Insights Into the Gut Microbiota‐Derived Short‐Chain Fatty Acids‐Muscle Axis

Animal Research and One Health, EarlyView.
Dietary fiber (DF) modulates meat quality through the gut‐muscle axis by reshaping gut microbiota, improving intestinal integrity, reducing inflammation, and regulating muscle metabolism. These mechanisms influence muscle fiber characteristics and post‐mortem biochemistry, thereby enhancing tenderness, juiciness, color, flavor, and nutritional value of
Zeshan Zulfiqar, Muhammad Arslan Asif, Layla Al‐Mitib, Nabeela Ashiq, Haojie Wang, Yalei Cui, Boshuai Liu, Shucheng Huang, Yinghua Shi   +8 more
wiley   +1 more source