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https://www.readbyqxmd.com/read/28436179/monogenic-diabetes-prevalence-among-polish-children-summary-of-11%C3%A2-years-long-nationwide-genetic-screening-program
#1
Beata Małachowska, Maciej Borowiec, Karolina Antosik, Arkadiusz Michalak, Anna Baranowska-Jaźwiecka, Grażyna Deja, Przemysława Jarosz-Chobot, Agnieszka Brandt, Małgorzata Myśliwiec, Małgorzata Stelmach, Joanna Nazim, Jadwiga Peczyńska, Barbara Głowińska-Olszewska, Anita Horodnicka-Józwa, Mieczysław Walczak, Maciej T Małecki, Agnieszka Zmysłowska, Agnieszka Szadkowska, Wojciech Fendler, Wojciech Młynarski
BACKGROUND: Estimated monogenic diabetes (MD) prevalence increases as screening programs proceeds. OBJECTIVE: To estimate prevalence of MD among Polish children. SUBJECTS: Patients and their family members suspected of suffering from MD (defined as causative mutation in one of the Maturity Onset Diabetes of the Young or permanent neonatal diabetes mellitus genes) were recruited between January 2005 and December 2015. METHODS: Nationwide prevalence was estimated based on data from 6 administrative provinces (out of 16 in Poland) with high referral rates of patients (>10 per 100 000 children)...
April 24, 2017: Pediatric Diabetes
https://www.readbyqxmd.com/read/28387648/dysmorphic-features-frontal-cerebral-cavernoma-and-hyperglycemia-in-a-girl-with-a-de-novo-deletion-of-7-23-mb-in-region-7p13-p12-1
#2
Gilberto Pérez López, Beatriz Villafuerte Quispe, María José Cabrejas Núñez, Luis Castaño, Raquel Barrio
We describe the case of a 7 year old girl referred to our Diabetes Unit for hyperglycemia associated to facial dysmorphic features, intellectual disability and cerebral cavernomas, who was initially diagnosed with type 1 diabetes mellitus (positive anti-IA2 antibody and HLA DR3/DR4/DQ2). In follow up, due to the evolution of the diabetes (very good metabolic control with low insulin dose and negative IA-2 antibodies - samples analyzed in two different laboratories-), first clinical suspicion was GCK-related Maturity-Onset Diabetes of the Young (MODY 2) by persistent mild hyperglycemia in the fasting state, which was substantiated in Multiplex Ligation-dependent Probe Amplification (MLPA)...
April 7, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28385800/an-exome-chip-association-analysis-in-chinese-reveals-a-functional-missense-variant-of-gckr-that-regulates-fgf21-levels
#3
Chloe Yy Cheung, Clara S Tang, Aimin Xu, Chi-Ho Lee, Ka-Wing Au, Lin Xu, Carol Hy Fong, Kelvin Hm Kwok, Wing-Sun Chow, Yu-Cho Woo, Michele Yuen, Stacey S Cherny, JoJo Hai, Bernard My Cheung, Kathryn Tan, Tai-Hing Lam, Hung-Fat Tse, Pak-Chung Sham, Karen Sl Lam
Fibroblast growth factor 21 (FGF21) is increasingly recognized as an important metabolic regulator of glucose homeostasis. Here, we conducted an exome-chip association analysis by genotyping 5169 Chinese individuals from a community-based cohort and two clinic-based cohorts. A custom Asian Exome-chip was used to detect genetic determinants influencing circulating FGF21 levels. Single-variant association analysis interrogating 70,444 single nucleotide polymorphisms identified a novel locus, GCKR, significantly associated with circulating FGF21 levels at genome-wide significance...
April 6, 2017: Diabetes
https://www.readbyqxmd.com/read/28385506/divergent-synthesis-of-kinase-inhibitor-derivatives-leading-to-discovery-of-selective-gck-inhibitors
#4
Takanori Matsumaru, Makoto Inai, Kana Ishigami, Toshiki Iwamatsu, Hiroshi Maita, Satoko Otsuguro, Takao Nomura, Akira Matsuda, Satoshi Ichikawa, Masahiro Sakaitani, Satoshi Shuto, Katsumi Maenaka, Toshiyuki Kan
We accomplished divergent synthesis of potent kinase inhibitor BAY 61-3606 (1) and 27 derivatives via conjugation of imidazo[1,2-c]pyrimidine and indole ring compounds with aromatic (including pyridine) derivatives by means of palladium-catalyzed cross-coupling reaction. Spleen tyrosine kinase (Syk) and germinal center kinase (Gck, MAP4K2) inhibition assays showed that some of the synthesized compounds were selective Gck inhibitors.
March 23, 2017: Bioorganic & Medicinal Chemistry Letters
https://www.readbyqxmd.com/read/28371533/preliminary-screening-of-mutations-in-the-glucokinase-gene-of-chinese-patients-with-gestational-diabetes
#5
Zhixin Wang, Fan Ping, Qian Zhang, Jia Zheng, Huabing Zhang, Miao Yu, Wenhui Li, Xinhua Xiao
Mutations in the glucokinase gene (GCK) are a pathogenetic cause of maturity-onset diabetes of the young (MODY). Studies have found that female patients with GCK-MODY often present with gestational diabetes during pregnancy. Our aim was to preliminarily assess the prevalence of mutations in the glucokinase gene in Chinese subjects with gestational diabetes MATERIALS AND METHODS: Chinese gestational subjects who underwent a 100 g oral glucose tolerance test in Peking Union Medical College Hospital (PUMCH) from July 2005 to May 2008 were retrospectively analyzed...
March 30, 2017: Journal of Diabetes Investigation
https://www.readbyqxmd.com/read/28359772/gck-gckr-fads1-dgkb-tmem195-and-cdkal1-gene-polymorphisms-in-women-with-gestational-diabetes
#6
Maciej Tarnowski, Damian Malinowski, Katarzyna Pawlak, Violetta Dziedziejko, Krzysztof Safranow, Andrzej Pawlik
OBJECTIVES: Gestational diabetes mellitus (GDM) is the carbohydrate intolerance that can occur in pregnancy. Genetic polymorphisms associated with type 2 diabetes could be considered as genetic determinants of GDM. The aim of this study was to examine the association between GCK, GCKR, FADS1, DGKB/TMEM195 and CDKAL1 gene polymorphisms and the development of gestational diabetes. These genetic polymorphisms are involved in glucose and lipid metabolism and are associated with increased risk for diabetes type 2...
March 27, 2017: Canadian Journal of Diabetes
https://www.readbyqxmd.com/read/28332581/elevated-mir-130a-mir130b-mir-152-expression-reduces-intracellular-atp-levels-in-the-pancreatic-beta-cell
#7
Jones K Ofori, Vishal A Salunkhe, Annika Bagge, Neelanjan Vishnu, Mototsugu Nagao, Hindrik Mulder, Claes B Wollheim, Lena Eliasson, Jonathan L S Esguerra
MicroRNAs have emerged as important players of gene regulation with significant impact in diverse disease processes. In type-2 diabetes, in which impaired insulin secretion is a major factor in disease progression, dysregulated microRNA expression in the insulin-secreting pancreatic beta cell has been widely-implicated. Here, we show that miR-130a-3p, miR-130b-3p, and miR-152-3p levels are elevated in the pancreatic islets of hyperglycaemic donors, corroborating previous findings about their upregulation in the islets of type-2 diabetes model Goto-Kakizaki rats...
March 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28331372/a-glucokinase-gene-mutation-in-a-young-boy-with-diabetes-mellitus-hyperinsulinemia-and-insulin-resistance
#8
Andrey O Emelyanov, Elena Sechko, Ekaterina Koksharova, Igor Sklyanik, Tamara Kuraeva, Alexander Mayorov, Valentina Peterkova, Ivan Dedov
We report the case of a 12-year-old boy with a glucokinase (GCK) mutation, and diabetes with hyperinsulinemia and insulin resistance. For 4 years, the patient intermittently received insulin medications Actrapid HM and Protaphane HM (total dose 5 U/day), with glycated hemoglobin (HbA1c) levels of 6.6%-7.0%. After extensive screening the patient was found to carry a heterozygous mutation (p.E256K) in GCK (MIM #138079, reference sequence NM_000162.3). Insulin therapy was replaced by metformin at 1,700 mg/day...
2017: International Medical Case Reports Journal
https://www.readbyqxmd.com/read/28323911/monogenic-diabetes-accounts-for-6-3-of-cases-referred-to-15-italian-pediatric-diabetes-centers-during-2007-2012
#9
Maurizio Delvecchio, Enza Mozzillo, Giuseppina Salzano, Dario Iafusco, Giulio Frontino, Patrizia I Patera, Ivana Rabbone, Valentino Cherubini, Valeria Grasso, Nadia Tinto, Sabrina Giglio, Giovanna Contreas, Rosa Di Paola, Alessandro Salina, Vittoria Cauvin, Stefano Tumini, Giuseppe d'Annunzio, Lorenzo Iughetti, Vilma Mantovani, Giulio Maltoni, Sonia Toni, Marco Marigliano, Fabrizio Barbetti
Context: Etiologic diagnosis of diabetes may impact on therapeutic strategy, and prognosis of chronic complications. Objective: The aim of the study was to establish the relative percentage of different diabetes subtypes in patients attending Italian pediatric diabetes centers, and the influence of etiologic diagnosis on therapy. Design, Setting and Patients: This was a retrospective study. Clinical records of 3781 consecutive patients (age: 0-18 years) referred to fifteen pediatric diabetes clinics and diagnosed with diabetes or IFG between Jan/1/2007 and Dec/31/2012 were examined...
February 16, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28303247/effect-of-wnt-signaling-on-the-differentiation-of-islet-%C3%AE-cells-from-adipose-derived-stem-cells
#10
Hefei Wang, Yu Ren, Xiao Hu, Min Ma, Xiao Wang, Hao Liang, Dongjun Liu
The Wnt signaling is critical for pancreatic development and islet function; however, its precise effects on the development and function of the β-cells remain controversial. Here we examined mRNA and protein expression of components of the Wnt signaling throughout the differentiation of islet β-cells from adipose-derived stem cells (ADSCs). After induction, ADSCs expressed markers of β-cells, including the insulin, PDX1, and glucagon genes, and the PDX1, CK19, nestin, insulin, and C-peptide proteins, indicating their successful differentiation...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28285997/ccm-3-promotes-c-%C3%A2-elegans-germline-development-by-regulating-vesicle-trafficking-cytokinesis-and-polarity
#11
Swati Pal, Benjamin Lant, Bin Yu, Ruilin Tian, Jiefei Tong, Jonathan R Krieger, Michael F Moran, Anne-Claude Gingras, W Brent Derry
Cerebral cavernous malformations (CCMs) are vascular defects of the CNS that arise from loss of integrity of the endothelial cells lining blood capillaries, causing leakage of blood into the brain [1]. This results in headaches, seizures, and/or hemorrhagic stroke, depending on the location of the lesion. CCM affects 0.5% of the population and follows an autosomal dominant inheritance pattern caused by mutations in one of the three genes: CCM1 (gene name KRIT1), CCM2 (also known as malcavernin or OSM), and CCM3 (gene name PDCD10) [2, 3], with the earliest onset and most severe prognosis occurring in CCM3 patients [4]...
March 20, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28285996/a-sterile-20-family-kinase-and-its-co-factor-ccm-3-regulate-contractile-ring-proteins-on-germline-intercellular-bridges
#12
Kathryn Rehain-Bell, Andrew Love, Michael E Werner, Ian MacLeod, John R Yates, Amy Shaub Maddox
Germ cells in most animals are connected by intercellular bridges, actin-based rings that form stable cytoplasmic connections between cells promoting communication and coordination [1]. Moreover, these connections are required for fertility [1, 2]. Intercellular bridges are proposed to arise from stabilization of the cytokinetic ring during incomplete cytokinesis [1]. Paradoxically, proteins that promote closure of cytokinetic rings are enriched on stably open intercellular bridges [1, 3, 4]. Given this inconsistency, the mechanism of intercellular bridge stabilization is unclear...
March 20, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28270372/congenital-hyperinsulinism-in-china-a-review-of-chinese-literature-over-the-past-15-years
#13
Wang Weiyan, Sun Yi, Zhao Wenting, Wu Tai, Wang Liang, Yuan Tianming, Yu Huimin
OBJECTIVE: The present study is investigated the clinical presentation, therapeutic outcomes and genetic mutations of CHI in Chinese individuals over the past 15 years. METHODS: The authors retrospectively reviewed one case in the department and 206 cases reported from January 2002 to October 2016 in China from PubMed, Ovid Medline, Springer and Wanfang Database, CBMD database and CKNI database. RESULTS: In total, 207 cases were recruited: 100 cases (48...
March 8, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28247534/heterogeneity-in-phenotype-of-hyperinsulinism-caused-by-activating-glucokinase-mutations-a-novel-mutation-and-its-functional-characterization
#14
Rosa Martínez, Ángel Gutierrez-Nogués, Concepción Fernández-Ramos, Teresa Velayos, Amaia Vela, María-Ángeles Navas, Luis Castaño
BACKGROUND: Mutations in the GCK gene lead to different forms of GCK-disease, activating mutations cause hyperinsulinemic hypoglycemia while inactivating mutations cause monogenic diabetes. Hyperinsulinism (HI) is a heterogeneous condition with a significant genetic component. The major causes are channelopathies, the other forms are rare and being caused by mutations in genes such as GCK. OBJECTIVE: To describe the clinical and genetic presentation of four families with activating GCK mutations, and to explore the pathogenicity of the novel mutation identified through functional studies...
March 1, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28238841/vitamin-a-status-affects-the-plasma-parameters-and-regulation-of-hepatic-genes-in-streptozotocin-induced-diabetic-rats
#15
Yang Li, Yang Liu, Guoxun Chen
Vitamin A (VA) status regulates metabolism in rats. Whether VA status and availability of retinoic acid (RA) contribute to the insulin-regulated hepatic gene expression remains to be determined. Zucker lean rats with VA sufficient (VAS) or VA deficient (VAD) status were treated with streptozotocin (STZ) to induce insulin-dependent diabetes. They were treated with saline (STZ-VAS-C or STZ-VAD-C), RA (STZ-VAS-RA or STZ-VAD-RA), insulin (STZ-VAS-INS or STZ-VAD-INS), or insulin + RA (STZ-VAS-INS+RA or STZ-VAD-INS+RA) for 3 hours...
February 23, 2017: Biochimie
https://www.readbyqxmd.com/read/28206714/opposite-effects-of-a-glucokinase-activator-and-metformin-on-glucose-regulated-gene-expression-in-hepatocytes
#16
Ziad H Al-Oanzi, Sophia Fountana, Tabassum Moonira, Susan J Tudhope, John L Petrie, Ahmed Alshawi, Gillian Patman, Catherine Arden, Helen L Reeves, Loranne Agius
AIM: Small molecule activators of glucokinase (GKAs) have been extensively explored as potential anti-hyperglycaemic drugs for type 2 diabetes (T2D). Several GKAs were remarkably effective at lowering blood glucose during early therapy but then lost their glycaemic efficacy chronically during clinical trials. We used rat hepatocytes to test the hypothesis that GKAs raise hepatocyte glucose 6-phosphate, (G6P, the glucokinase product) and down-stream metabolites with consequent repression of the liver glucokinase gene (Gck)...
February 16, 2017: Diabetes, Obesity & Metabolism
https://www.readbyqxmd.com/read/28182770/biochemical-and-biophysical-investigations-of-the-interaction-between-human-glucokinase-and-pro-apoptotic-bad
#17
Alix Rexford, Diego A R Zorio, Brian G Miller
The glycolytic enzyme glucokinase (GCK) and the pro-apoptotic protein BAD reportedly reside within a five-membered complex that localizes to the mitochondria of mammalian hepatocytes and pancreatic β-cells. Photochemical crosslinking studies using a synthetic analog of BAD's BH3 domain and in vitro transcription/translation experiments support a direct interaction between BAD and GCK. To investigate the biochemical and biophysical consequences of the BAD:GCK interaction, we developed a method for the production of recombinant human BAD...
2017: PloS One
https://www.readbyqxmd.com/read/28170077/clinical-application-of-acmg-amp-guidelines-in-hnf1a-and-gck-variants-in-a-cohort-of-mody-families
#18
Lucas Santos de Santana, Lilian Araujo Caetano, Aline Dantas Costa-Riquetto, Elisangela Pereira de Souza Quedas, Marcia Nery, Paulo Collett-Solberg, Margaret Cristina da Silva Boguszewski, Marcio Faleiros Vendramini, Lindiane Gomes Crisostomo, Flavia Osmo Floh, Zuleica Isabel Zarabia, Suely Keiko Kohara, Leila Guastapaglia, Caroline de Gouveia Buff Passone, Leticia Esposito Sewaybricker, Alexander Augusto de Lima Jorge, Milena Gurgel Teles
Maturity-Onset Diabetes of the Young (MODY) is a form of monogenic diabetes with autosomal dominant inheritance. GCK-MODY and HNF1A-MODY are the prevalent subtypes. Currently, there is growing concern regarding the correct interpretation of molecular genetic findings. The American College of Medical Genetics and Genomics (ACMG) updated guidelines to interpret and classify molecular variants. This study aimed to determine the prevalence of MODY (GCK / HNF1A) in a large cohort of Brazilian families, to report variants related to phenotype, and to classify them according to ACMG guidelines...
February 7, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28163940/asymptomatic-congenital-hyperinsulinism-due-to-a-glucokinase-activating-mutation-treated-as-adrenal-insufficiency-for-twelve-years
#19
Kae Morishita, Chika Kyo, Takako Yonemoto, Rieko Kosugi, Tatsuo Ogawa, Tatsuhide Inoue
Congenital hyperinsulinism (CHI) caused by a glucokinase- (GCK-) activating mutation shows autosomal dominant inheritance, and its severity ranges from mild to severe. A 43-year-old female with asymptomatic hypoglycemia (47 mg/dL) was diagnosed as partial adrenal insufficiency and the administration of hydrocortisone (10 mg/day) was initiated. Twelve years later, her 8-month-old grandchild was diagnosed with CHI. Heterozygosity of exon 6 c.590T>C (p.M197T) was identified in a gene analysis of GCK, which was also detected in her son and herself...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/28158221/association-of-prediabetes-associated-single-nucleotide-polymorphisms-with-microalbuminuria
#20
Jong Wook Choi, Shinje Moon, Eun Jung Jang, Chang Hwa Lee, Joon-Sung Park
Increased glycemic exposure, even below the diagnostic criteria for diabetes mellitus, is crucial in the pathogenesis of diabetic microvascular complications represented by microalbuminuria. Nonetheless, there is limited evidence regarding which single nucleotide polymorphisms (SNPs) are associated with prediabetes and whether genetic predisposition to prediabetes is related to microalbuminuria, especially in the general population. Our objective was to answer these questions. We conducted a genomewide association study (GWAS) separately on two population-based cohorts, Ansung and Ansan, in the Korean Genome and Epidemiology Study (KoGES)...
2017: PloS One
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