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https://www.readbyqxmd.com/read/28222501/a-molecular-case-control-study-of-association-of-hnf1a-gene-polymorphisms-rs2259816-and-rs7310409-with-risk-of-coronary-artery-disease-in-iranian-patients
#1
Samaneh Adami Barzi, Sayyed Mohammad Hossein Ghaderian, Zahra Noormohammadi
BACKGROUND: Coronary artery disease (CAD) is the one of the most common heart diseases, being the main factor of mortality and morbidity worldwide. CAD has been known as a multifactorial disease and its progression depends on genetic and environmental factors. Numerous studies have shown evidence for association between 12q24.3 locus and CAD. OBJECTIVES: In the present study, the association of two HNF1A polymorphisms, rs2259816 and rs7310409, located on 12q24.3 locus with CAD was investigated in Iranian patients...
January 24, 2017: Human Antibodies
https://www.readbyqxmd.com/read/28170077/clinical-application-of-acmg-amp-guidelines-in-hnf1a-and-gck-variants-in-a-cohort-of-mody-families
#2
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/28131467/hepatocellular-adenoma-classification-variants-and-clinical-relevance
#3
Paulette Bioulac-Sage, Christine Sempoux, Charles Balabaud
Hepatocellular adenomas are benign tumors with two major complications, bleeding and malignant transformation. The overall narrative of hepatocellular adenoma has evolved over time. Solitary or multiple hepatocellular developing in the normal liver of women of child bearing age exposed to oral contraceptives still represents the most frequent clinical context, however, new associations are being recognized. Hepatocellular adenoma is discovered on a background of liver diseases such as non-alcoholic steatohepatitis, vascular diseases, and alcoholic cirrhosis...
December 20, 2016: Seminars in Diagnostic Pathology
https://www.readbyqxmd.com/read/28116330/identification-and-functional-analysis-of-c-422_423inst-a-novel-mutation-of-the-hnf1a-gene-in-a-patient-with-diabetes
#4
Jesús Miguel Magaña-Cerino, Juan P Luna-Arias, María Luisa Labra-Barrios, Bartolo Avendaño-Borromeo, Xavier Miguel Boldo-León, Mirian Carolina Martínez-López
BACKGROUND: HNF1A gene regulates liver-specific genes, and genes that have a role in glucose metabolism, transport, and secretion of insulin. HNF1A gene mutations are frequently associated with type 2 diabetes. HNF1A protein has three domains: the dimerization domain, the DNA-binding domain, and the trans-activation domain. Some mutations in the dimerization or DNA-binding domains have no influence on the normal allele, while others have dominant negative effects. The I27L, A98V, and S487N polymorphisms are common variants of the HNF1A gene; they have been found in T2D and non-diabetic subjects...
January 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28105082/genetic-diagnosis-and-treatment-of-a-chinese-ketosis-prone-mody-3-family-with-depression
#5
Jun Tang, Chen-Yi Tang, Fang Wang, Yue Guo, Hao-Neng Tang, Ci-La Zhou, Shu-Wen Tan, Shi-Ping Liu, Zhi-Guang Zhou, Hou-De Zhou
BACKGROUND: To analyze the gene mutation and mental disorder of a Chinese ketosis-prone diabetes (KPD) family, and to make a precise diagnosis and give a treatment for them. METHODS: We studied a Chinese family with a clinical diagnosis of maturity-onset diabetes of the young (MODY). The clinical data and the blood samples were collected. The promotor and coding regions inclusive intron exon boundaries of the HNF1A, HNF4A were detected by polymerase chain reaction (PCR) and direct sequencing...
2017: Diabetology & Metabolic Syndrome
https://www.readbyqxmd.com/read/28095440/comprehensive-maturity-onset-diabetes-of-the-young-mody-gene-screening-in-pregnant-women-with-diabetes-in-india
#6
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/28052112/lower-frequency-of-hla-drb1-type-1-diabetes-risk-alleles-in-pediatric-patients-with-mody
#7
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/28035729/association-of-the-hnf1a-polymorphisms-and-serum-lipid-traits-the-risk-of-coronary-artery-disease-and-ischemic-stroke
#8
Yi-Jiang Zhou, Rui-Xing Yin, Shao-Cai Hong, Qian Yang, Xiao-Li Cao, Wu-Xian Chen
BACKGROUND: Hepatocyte nuclear factor-1α gene (HNF1A) single nucleotide polymorphisms (SNPs) have been associated with serum lipid traits in several previous genome-wide association studies. However, little is known about such associations in the Chinese populations. The present study aimed to determine the association of the HNF1A rs1169288, rs2259820, rs2464196 and rs2650000 SNPs and serum lipid traits, the risk of coronary artery disease (CAD) and ischemic stroke (IS). METHODS: The genotypes of the four SNPs in 562 CAD and 521 IS patients, as well as 594 healthy controls, were detected using the Snapshot technology...
January 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28013212/organ-specific-epigenetic-changes-induced-by-the-non-genotoxic-liver-carcinogen-methapyrilene-in-fischer-344-rats
#9
Svitlana Shpyleva, Kostiantyn Dreval, Aline de Conti, Iryna Kindrat, Stepan Melnyk, Jian Yan, Tao Chen, Frederick A Beland, Igor P Pogribny
Continuous lifetime exposure to certain natural and man-made chemicals is a major cause of cancers in humans; therefore, evaluating the carcinogenic risks of chemicals remains important. Currently, substantial progress has been made in identification of genotoxic carcinogens; in contrast, predicting a carcinogenic potential of non-genotoxic compounds is a challenge due to many different modes of action that may lead to tumorigenesis. In the present study, we investigated the effects of the non-genotoxic liver carcinogen methapyrilene and the nongenotoxic non-carcinogen usnic acid at doses that do not exhibit organ cytotoxicity on epigenomic alterations in the liver and kidneys of Fischer 344 (F344) rats...
December 24, 2016: Toxicological Sciences: An Official Journal of the Society of Toxicology
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
#10
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
https://www.readbyqxmd.com/read/27981551/long-non-coding-rna-hnf1a-as1-up-regulation-in-non-small-cell-lung-cancer-correlates-to-poor-survival
#11
Y-F Ma, T Liang, C-R Li, Y-J Li, S Jin, Y Liu
OBJECTIVE: Accumulating studies have focused on the role of the newly identified lncRNAs in the tumor. We aimed to investigate the clinical correlation between long non-coding RNA HNF1A-AS (HNF1A-AS1) expression and non-small cell lung cancer (NSCLC). PATIENTS AND METHODS: Real-time polymerase chain reaction (PCR) was employed to detect HNF1A-AS expression in NSCLC tissues and corresponding adjacent tissues. The c2-test was used to compare the clinicopathological characteristics between different groups...
December 2016: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/27939373/molecular-classification-of-hepatocellular-adenoma-associates%C3%A2-with-risk-factors-bleeding-and-malignant-transformation
#12
Jean Charles Nault, Gabrielle Couchy, Charles Balabaud, Guillaume Morcrette, Stefano Caruso, Jean-Frederic Blanc, Yannick Bacq, Julien Calderaro, Valérie Paradis, Jeanne Ramos, Jean-Yves Scoazec, Viviane Gnemmi, Nathalie Sturm, Catherine Guettier, Monique Fabre, Eric Savier, Laurence Chiche, Philippe Labrune, Janick Selves, Dominique Wendum, Camilla Pilati, Alexis Laurent, Anne De Muret, Brigitte Le Bail, Sandra Rebouissou, Sandrine Imbeaud, Paulette Bioulac-Sage, Eric Letouzé, Jessica Zucman-Rossi
BACKGROUND & AIMS: Hepatocellular adenomas (HCAs) are benign liver tumors that can be assigned to molecular subtypes based on inactivating mutations in hepatocyte nuclear factor 1A, activating mutations in β-catenin, or activation of inflammatory signaling pathways. We aimed to update the classification system for HCA and associate the subtypes with disease risk factors and complications. METHODS: We analyzed expression levels of 20 genes and sequenced exon regions of 8 genes (HNF1A, IL6ST, CTNNB1, FRK, STAT3, GNAS, JAK1, and TERT) in 607 samples of 533 HCAs from 411 patients, collected from 28 centers mainly in France from 2000 and 2014...
December 7, 2016: Gastroenterology
https://www.readbyqxmd.com/read/27921429/-congenital-hyperinsulinism-loss-of-b-cell-self-control
#13
Jan Lebl, Klára Roženková, Štěpánka Průhová
Congenital hyperinsulinism is a serious blood glucose regulation defect that interferes with brain development, leading to mental retardation, neurological sequelae and secondary epilepsy and ultimately may be life-threatening. Congenital hyperinsulinism (CHI) is caused by genetic defects of regulation of insulin secretion that induce insulin oversecretion in intrauterine life and postnatally. The clinical consequence is fetal macrosomia and subsequently neonatal and infantile hypoglycaemia. The most severe form is caused by biallelic mutations of KCNJ11 and ABCC8 genes that encode both potassium channel subunits, whereas their heterozygous mutations as well as enzymatic defects (GLUD1, HADH, GCK) lead to milder presentation...
2016: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/27913849/targeted-next-generation-sequencing-reveals-mody-in-up-to-6-5-of-antibody-negative-diabetes-cases-listed-in-the-norwegian-childhood-diabetes-registry
#14
Bente B Johansson, Henrik U Irgens, Janne Molnes, Paweł Sztromwasser, Ingvild Aukrust, Petur B Juliusson, Oddmund Søvik, Shawn Levy, Torild Skrivarhaug, Geir Joner, Anders Molven, Stefan Johansson, Pål R Njølstad
AIMS/HYPOTHESIS: MODY can be wrongly diagnosed as type 1 diabetes in children. We aimed to find the prevalence of MODY in a nationwide population-based registry of childhood diabetes. METHODS: Using next-generation sequencing, we screened the HNF1A, HNF4A, HNF1B, GCK and INS genes in all 469 children (12.1%) negative for both GAD and IA-2 autoantibodies and 469 antibody-positive matched controls selected from the Norwegian Childhood Diabetes Registry (3882 children)...
December 2, 2016: Diabetologia
https://www.readbyqxmd.com/read/27899892/age-dependent-hepatic-udp-glucuronosyltransferase-gene-expression-and-activity-in-children
#15
Elizabeth Neumann, Huma Mehboob, Jacqueline Ramírez, Snezana Mirkov, Min Zhang, Wanqing Liu
UDP-glucuronosyltransferases (UGTs) are important phase II drug metabolism enzymes. The aim of this study was to explore the relationship between age and changes in mRNA expression and activity of major human hepatic UGTs, as well as to understand the potential regulatory mechanism underlying this relationship. Using previously generated data, we investigated age-dependent mRNA expression levels of 11 hepatic UGTs (UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A9, UGT2B4, UGT2B7, UGT2B10, UGT2B15, and UGT2B17) and 16 transcription factors (AHR, AR, CAR, ESR2, FXR, GCCR, HNF1a, HNF3a, HNF3b, HNF4a, PPARA, PPARG, PPARGC, PXR, SP1, and STAT3) in liver tissue of donors (n = 38) ranging from 0 to 25 years of age...
2016: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/27899486/functional-investigations-of-hnf1a-identify-rare-variants-as-risk-factors-for-type-2-diabetes-in-the-general-population
#16
Laeya Abdoli Najmi, Ingvild Aukrust, Jason Flannick, Janne Molnes, Noel Burtt, Anders Molven, Leif Groop, David Altshuler, Stefan Johansson, Lise Bjørkhaug, Pål Rasmus Njølstad
Variants in HNF1A encoding hepatocyte nuclear factor-1A are associated with maturity-onset diabetes of the young (MODY3) and type 2 diabetes. We investigated whether functional classification of HNF1A rare coding variants can inform models of diabetes risk prediction in the general population by analyzing the effect of 27 HNF1A variants identified in well-phenotyped populations (n = 4115). Bioinformatics tools classified 11 variants as likely pathogenic and showed no association with diabetes risk (combined MAF = 0...
November 29, 2016: Diabetes
https://www.readbyqxmd.com/read/27888760/relationship-between-selected-dna-polymorphisms-and-coronary-artery-disease-complications
#17
Marcin Wirtwein, Olle Melander, Marketa Sjőgren, Michal Hoffmann, Krzysztof Narkiewicz, Marcin Gruchala, Wojciech Sobiczewski
BACKGROUND: Coronary heart disease (CHD) development is complex in origin, with contributions from well-defined lifestyle and not well-determined genetic risk factors. The aim of this study is to report the relationship between certain SNPs and the risk of cardiovascular (CV) complications in patients with CAD confirmed by coronary angiography. METHODS: In the present study, 1345 subjects with CHD were included. The median follow-up period was 8.6years. 19 SNPs were investigated for any association with Major Advanced CV Events (MACE), Acute Coronary Syndromes (ACS) and Revascularizations...
February 1, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/27819122/erratum-to-carriers-of-genetic-variants-in-the-hnf1a-gene-are-more-common-among-dead-opioid-addicts-than-among-living-addicts
#18
Anh Nguyen, Tore B Stage, Søren Feddersen, Dorte J Christoffersen, Mette Marie H Christensen, Per Damkier, Jørgen L Thomsen, Kim Brøsen
No abstract text is available yet for this article.
November 7, 2016: European Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/27810688/clinical-whole-exome-sequencing-in-early-onset-diabetes-patients
#19
Soo Heon Kwak, Chan-Hyeon Jung, Chang Ho Ahn, Jungsun Park, Jeesoo Chae, Hye Seung Jung, Young Min Cho, Dae Ho Lee, Jong-Il Kim, Kyong Soo Park
AIMS: There could be an overlap of monogenic diabetes and early onset type 2 diabetes in those who are diagnosed before age of 30years. Genetic diagnosis in these patients might improve the quality of care. A limited number of studies have used whole exome sequencing (WES) in Asian patients with early onset diabetes, and the clinical utility of WES is largely unknown. METHODS: We performed whole exome capture and massive parallel sequencing in 28 patients with early onset diabetes...
December 2016: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/27807544/qualitative-parameters-of-the-colonic-flora-in-patients-with-hnf1a-mody-are-different-from-those-observed-in-type-2-diabetes-mellitus
#20
Sandra Mrozinska, Piotr Radkowski, Tomasz Gosiewski, Magdalena Szopa, Malgorzata Bulanda, Agnieszka H Ludwig-Galezowska, Iwona Morawska, Agnieszka Sroka-Oleksiak, Bartlomiej Matejko, Przemyslaw Kapusta, Dominika Salamon, Maciej T Malecki, Pawel Wolkow, Tomasz Klupa
Background. Type 2 diabetes mellitus (T2DM) is determined by genetic and environmental factors. There have been many studies on the relationship between the composition of the gastrointestinal bacterial flora, T2DM, and obesity. There are no data, however, on the gut microbiome structure in monogenic forms of the disease including Maturity Onset Diabetes of the Young (MODY). Methods. The aim of the investigation was to compare the qualitative parameters of the colonic flora in patients with HNF1A-MODY and T2DM and healthy individuals...
2016: Journal of Diabetes Research
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