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https://www.readbyqxmd.com/read/28332581/elevated-mir-130a-mir130b-mir-152-expression-reduces-intracellular-atp-levels-in-the-pancreatic-beta-cell
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
https://www.readbyqxmd.com/read/28095750/effects-of-pre-germinated-brown-rice-treatment-high-fat-diet-induced-metabolic-syndrome-in-c57bl-6j-mice
#15
Hsueh-Wei Yen, Hui-Li Lin, Chi-Long Hao, Fu-Chih Chen, Chun-Yun Chen, Jia-Hao Chen, Kuo-Ping Shen
To investigate using pre-germinated brown rice (PGBR) to treat metabolic syndrome, we fed one group of mice standard-regular-diet (SRD) for 20 weeks and another group of mice high-fat-diet (HFD) for 16 weeks. We subdivided them into HFD group and HFD + PGBR group whose dietary carbohydrate was replaced with PGBR for 4 weeks. The HFD group gained more weight, had higher blood pressure, heart rate, blood glucose and lipids, liver levels of TG, feces TG and bile acid, lower adipose levels of adipocytokine, lower skeletal muscle IR, IRS-1, IRS-2, PI3 K, Akt/PKB, GLUT-1, GLUT-4, GCK and PPAR-γ; higher liver SREBP-1, SCD-1, FAS, HMGCR, LDLR, CYP7α1 and PPAR-α, and higher adipose SREBP-1, SCD-1, FAS, and lower adipose PPAR-α and adiponectin...
January 18, 2017: Bioscience, Biotechnology, and Biochemistry
https://www.readbyqxmd.com/read/28095440/comprehensive-maturity-onset-diabetes-of-the-young-mody-gene-screening-in-pregnant-women-with-diabetes-in-india
#16
Mahesh Doddabelavangala Mruthyunjaya, Aaron Chapla, Asha Hesarghatta Shyamasunder, Deny Varghese, Manika Varshney, Johan Paul, Mercy Inbakumari, Flory Christina, Ron Thomas Varghese, Kurien Anil Kuruvilla, Thomas V Paul, Ruby Jose, Annie Regi, Jessie Lionel, L Jeyaseelan, Jiji Mathew, Nihal Thomas
Pregnant women with diabetes may have underlying beta cell dysfunction due to mutations/rare variants in genes associated with Maturity Onset Diabetes of the Young (MODY). MODY gene screening would reveal those women genetically predisposed and previously unrecognized with a monogenic form of diabetes for further clinical management, family screening and genetic counselling. However, there are minimal data available on MODY gene variants in pregnant women with diabetes from India. In this study, utilizing the Next generation sequencing (NGS) based protocol fifty subjects were screened for variants in a panel of thirteen MODY genes...
2017: PloS One
https://www.readbyqxmd.com/read/28072873/association-study-with-77-snps-confirms-the-robust-role-for-the-rs10830963-g-of-mtnr1b-variant-and-identifies-two-novel-associations-in-gestational-diabetes-mellitus-development
#17
Klara Rosta, Zahra Al-Aissa, Orsolya Hadarits, Jürgen Harreiter, Ákos Nádasdi, Fanni Kelemen, Dagmar Bancher-Todesca, Zsolt Komlósi, László Németh, János Rigó, István Sziller, Anikó Somogyi, Alexandra Kautzky-Willer, Gábor Firneisz
CONTEXT: Genetic variation in human maternal DNA contributes to the susceptibility for development of gestational diabetes mellitus (GDM). OBJECTIVE: We assessed 77 maternal single nucleotide gene polymorphisms (SNPs) for associations with GDM or plasma glucose levels at OGTT in pregnancy. METHODS: 960 pregnant women (after dropouts 820: case/control: m99'WHO: 303/517, IADPSG: 287/533) were enrolled in two countries into this case-control study...
2017: PloS One
https://www.readbyqxmd.com/read/28052112/lower-frequency-of-hla-drb1-type-1-diabetes-risk-alleles-in-pediatric-patients-with-mody
#18
Inés Urrutia, Rosa Martínez, Tamara López-Euba, Teresa Velayos, Idoia Martínez de LaPiscina, José Ramón Bilbao, Itxaso Rica, Luis Castaño
OBJECTIVE: The aim of this study was to determine the frequency of susceptible HLA-DRB1 alleles for type 1 diabetes in a cohort of pediatric patients with a confirmed genetic diagnosis of MODY. MATERIALS AND METHODS: 160 families with a proband diagnosed with type 1 diabetes and 74 families with a molecular diagnosis of MODY (61 GCK-MODY and 13 HNF1A-MODY) were categorized at high definition for HLA-DRB1 locus. According to the presence or absence of the susceptible HLA-DRB1 alleles for type 1 diabetes, we considered three different HLA-DRB1 genotypes: 0 risk alleles (no DR3 no DR4); 1 risk allele (DR3 or DR4); 2 risk alleles (DR3 and/or DR4)...
2017: PloS One
https://www.readbyqxmd.com/read/28017717/preserving-expression-of-pdx1-improves-%C3%AE-cell-failure-in-diabetic-mice
#19
Yuichi Yamamoto, Takeshi Miyatsuka, Shugo Sasaki, Kazuyuki Miyashita, Fumiyo Kubo, Naoki Shimo, Satomi Takebe, Hirotaka Watada, Hideaki Kaneto, Taka-Aki Matsuoka, Iichiro Shimomura
Pdx1, a β-cell-specific transcription factor, has been shown to play a crucial role in maintaining β-cell function through transactivation of β-cell-related genes. In addition, it has been reported that the expression levels of Pdx1 are compromised under diabetic conditions in human and rodent models. We therefore aimed to clarify the possible beneficial role of Pdx1 against β-cell failure and generated the transgenic mouse that expressed Pdx1 conditionally and specifically in β cells (βPdx1) and crossed these mice with Ins2(Akita) diabetic mice...
January 29, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28012402/maturity-onset-diabetes-of-the-young-mody-in-brazil-establishment-of-a-national-registry-and-appraisal-of-available-genetic-and-clinical-data
#20
Fernando M A Giuffrida, Regina S Moises, Leticia S Weinert, Luis E Calliari, Thais Della Manna, Renata P Dotto, Luciana F Franco, Lilian A Caetano, Milena G Teles, Renata Andrade Lima, Crésio Alves, Sergio A Dib, Sandra P Silveiro, Magnus R Dias-da-Silva, Andre F Reis
AIMS: Maturity-Onset Diabetes of the Young (MODY) comprises a heterogeneous group of monogenic forms of diabetes caused by mutations in at least 14 genes, but mostly by mutations in Glucokinase (GCK) and hepatocyte nuclear factor-1 homeobox A (HNF1A). This study aims to establish a national registry of MODY cases in Brazilian patients, assessing published and unpublished data. METHODS: 311 patients with clinical characteristics of MODY were analyzed, with unpublished data on 298 individuals described in 12 previous publications and 13 newly described cases in this report...
January 2017: Diabetes Research and Clinical Practice
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