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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
#1
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
#2
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
#3
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
#4
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...
November 9, 2016: 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
#5
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
#6
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...
October 15, 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
#7
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
https://www.readbyqxmd.com/read/27775819/genomic-analysis-of-hepatoblastoma-identifies-distinct-molecular-and-prognostic-subgroups
#8
Pavel Sumazin, Yidong Chen, Lisa R Treviño, Stephen F Sarabia, Oliver A Hampton, Kayuri Patel, Toni-Ann Mistretta, Barry Zorman, Patrick Thompson, Andras Heczey, Sarah Comerford, David A Wheeler, Murali Chintagumpala, Rebecka Meyers, Dinesh Rakheja, Milton J Finegold, Gail Tomlinson, D Williams Parsons, Dolores López-Terrada
Despite being the most common liver cancer in children, hepatoblastoma (HB) is a rare neoplasm. Consequently, few pre-treatment tumors have been molecularly profiled and there are no validated prognostic or therapeutic biomarkers for HB patients. We report on the first large-scale effort to profile pre-treatment HBs at diagnosis. Our analysis of 88 clinically-annotated HBs revealed three risk-stratifying molecular subtypes that are characterized by differential activation of hepatic progenitor cell markers and metabolic pathways: high-risk tumors were characterized by up-regulated NFE2L2 activity, high LIN28B, HMGA2, SALL4 and AFP expression, and high coordinated expression of oncofetal proteins and stem cell markers; while low-risk tumors had low LIN28B and let-7 expression, and high HNF1A activity...
October 24, 2016: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/27704169/hepatic-expression-of-transcription-factors-affecting-developmental-regulation-of-ugt1a1-in-the-han-chinese-population
#9
Ya-Li Nie, Hang He, Jiang-Feng Li, Xiang-Guang Meng, Liang Yan, Pei Wang, Shu-Jie Wang, Hong-Zheng Bi, Li-Rong Zhang, Quan-Cheng Kan
PURPOSE: Complete or partial inactivity of UGT1A1, the unique enzyme responsible for bilirubin glucuronidation, is commonly associated with hyperbilirubinemia. We investigated the dynamic expression of UGT1A1, and that of the transcription factors (TFs) involved in its developmental regulation, during human hepatic growth in Han Chinese individuals. METHODS: Eighty-eight prenatal, pediatric, and adult liver samples were obtained from Han Chinese individuals. Quantitative real-time polymerase chain reaction was used to evaluate mRNA expression of UGT1A1 and TFs including PXR, CAR, HNF1A, HNF4A, PPARA, etc...
October 5, 2016: European Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/27667715/a-suppressor-locus-for-mody3-diabetes
#10
Miguel A Garcia-Gonzalez, Claire Carette, Alessia Bagattin, Magali Chiral, Munevver Parla Makinistoglu, Serge Garbay, Géraldine Prévost, Cécile Madaras, Yann Hérault, Michel Leibovici, Marco Pontoglio
Maturity Onset Diabetes of the Young type 3 (MODY3), linked to mutations in the transcription factor HNF1A, is the most prevalent form of monogenic diabetes mellitus. HNF1alpha-deficiency leads to defective insulin secretion via a molecular mechanism that is still not completely understood. Moreover, in MODY3 patients the severity of insulin secretion can be extremely variable even in the same kindred, indicating that modifier genes may control the onset of the disease. With the use of a mouse model for HNF1alpha-deficiency, we show here that specific genetic backgrounds (C3H and CBA) carry a powerful genetic suppressor of diabetes...
September 26, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27648140/upregulation-of-lncrna-hnf1a-as1-promotes-cell-proliferation-and-metastasis-in-osteosarcoma-through-activation-of-the-wnt-%C3%AE-catenin-signaling-pathway
#11
Hongxing Zhao, Wengen Hou, Jingang Tao, Yilei Zhao, Guang Wan, Chao Ma, Haibin Xu
HNF1A-antisense 1 (HNF1A-AS1), a long non-coding RNA (lncRNA), is associated with metastasis and is an independent prognostic factor for lung cancer. Recent studies demonstrated that HNF1A-AS1 play important roles in cacinogenesis. However, the exact effects and molecular mechanisms of HNF1A-AS1 in osteosarcoma (OS) progression is still unclear. In the present study, we found that HNF1A-AS1 was markedly up-regulated in OS tissues compared to their adjacent non-tumor tissues. HNF1A-AS1 expression levels were positively associated with the clinical stage, distant metastasis, and reduced overall survival of OS patients...
2016: American Journal of Translational Research
https://www.readbyqxmd.com/read/27634015/genetic-confirmation-rate-in-clinically-suspected-maturity-onset-diabetes-of-the-young
#12
Amanda J Brahm, Grace Wang, Jian Wang, Adam D McIntyre, Henian Cao, Matthew R Ban, Robert A Hegele
OBJECTIVES: Maturity-onset diabetes of the young (MODY) is the most common form of monogenic diabetes, reportedly accounting for 2% to 5% of all cases of diabetes. In samples from Canadian patients referred for molecular genetic confirmation of a clinically suspected MODY, we determined the prevalence of likely disease-causing DNA variants in known MODY genes. METHODS: Between 1999 and 2015, our centre received requests from colleagues for DNA sequencing of 96 samples from unrelated Canadian patients with clinically suspected MODY...
December 2016: Canadian Journal of Diabetes
https://www.readbyqxmd.com/read/27551309/several-type-2-diabetes-associated-variants-in-genes-annotated-to-wnt-signaling-interact-with-dietary-fiber-in-relation-to-incidence-of-type-2-diabetes
#13
George Hindy, Inês G Mollet, Gull Rukh, Ulrika Ericson, Marju Orho-Melander
BACKGROUND: TCF7L2 is a central transcription factor in the canonical wingless-type MMTV integration site (WNT) signaling pathway, and genetic variants in TCF7L2 have been found to interact with dietary fiber intake on type 2 diabetes risk. Here, we investigate whether other type 2 diabetes genes could be involved in the WNT signaling pathway and whether variants in such genes might interact with dietary fiber on type 2 diabetes incidence. RESULTS: We included 26,905 individuals without diabetes from the Malmö Diet and Cancer Study cohort...
2016: Genes & Nutrition
https://www.readbyqxmd.com/read/27534721/influence-of-elevated-crp-level-related-polymorphisms-in-non-rheumatic-caucasians-on-the-risk-of-subclinical-atherosclerosis-and-cardiovascular-disease-in-rheumatoid-arthritis
#14
Raquel López-Mejías, Fernanda Genre, Sara Remuzgo-Martínez, Carlos González-Juanatey, Montserrat Robustillo-Villarino, Javier Llorca, Alfonso Corrales, Esther Vicente, José A Miranda-Filloy, César Magro, Beatriz Tejera-Segura, Marco A Ramírez Huaranga, Trinitario Pina, Ricardo Blanco, Juan J Alegre-Sancho, Enrique Raya, Verónica Mijares, Begoña Ubilla, María D Mínguez Sánchez, Carmen Gómez-Vaquero, Alejandro Balsa, Dora Pascual-Salcedo, Francisco J López-Longo, Patricia Carreira, Isidoro González-Álvaro, Luis Rodríguez-Rodríguez, Benjamín Fernández-Gutiérrez, Iván Ferraz-Amaro, Santos Castañeda, Javier Martín, Miguel A González-Gay
Association between elevated C-reactive protein (CRP) serum levels and subclinical atherosclerosis and cardiovascular (CV) events was described in rheumatoid arthritis (RA). CRP, HNF1A, LEPR, GCKR, NLRP3, IL1F10, PPP1R3B, ASCL1, HNF4A and SALL1 exert an influence on elevated CRP serum levels in non-rheumatic Caucasians. Consequently, we evaluated the potential role of these genes in the development of CV events and subclinical atherosclerosis in RA patients. Three tag CRP polymorphisms and HNF1A, LEPR, GCKR, NLRP3, IL1F10, PPP1R3B, ASCL1, HNF4A and SALL1 were genotyped in 2,313 Spanish patients by TaqMan...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27520560/prognostic-relevance-of-molecular-subtypes-and-master-regulators-in-pancreatic-ductal-adenocarcinoma
#15
Rekin's Janky, Maria Mercedes Binda, Joke Allemeersch, Anke Van den Broeck, Olivier Govaere, Johannes V Swinnen, Tania Roskams, Stein Aerts, Baki Topal
BACKGROUND: Pancreatic cancer is poorly characterized at genetic and non-genetic levels. The current study evaluates in a large cohort of patients the prognostic relevance of molecular subtypes and key transcription factors in pancreatic ductal adenocarcinoma (PDAC). METHODS: We performed gene expression analysis of whole-tumor tissue obtained from 118 surgically resected PDAC and 13 histologically normal pancreatic tissue samples. Cox regression models were used to study the effect on survival of molecular subtypes and 16 clinicopathological prognostic factors...
2016: BMC Cancer
https://www.readbyqxmd.com/read/27469031/validation-of-a-multi-omics-strategy-for-prioritizing-personalized-candidate-driver-genes
#16
Li Liang, Liting Song, Yi Yang, Ling Tian, Xiaoyuan Li, Songfeng Wu, Wenxun Huang, Hong Ren, Ni Tang, Keyue Ding
Significant heterogeneity between different tumors prevents the discovery of cancer driver genes, especially in a patient-specific manner. We previously prioritized five personalized candidate mutation-driver genes in a hyper-mutated hepatocellular carcinoma patient using a multi-omics strategy. However, the roles of the prioritized driver genes and patient-specific mutations in hepatocarcinogenesis are unclear. We investigated the impact of the tumor-mutated allele on structure-function relationship of the encoded protein and assessed both loss- and gain-of-function of these genes and mutations on hepatoma cell behaviors in vitro...
June 21, 2016: Oncotarget
https://www.readbyqxmd.com/read/27460564/association-study-of-c-reactive-protein-associated-gene-hnf1a-with-ischemic-stroke-in-chinese-population
#17
Haibin Shi, Song Leng, Hui Liang, Yan Zheng, Lidian Chen
BACKGROUND: Ischemic stroke is a life-threatening condition due to obstructed blood supply of the brain. Elevation of plasma C-reactive protein, an important inflammatory marker, was known to associate with increased risk of ischemic stroke. Previous studies reported association between genetic variants of HNF1A and plasma level of C-reactive protein. The HNF1A gene encodes a hepatocyte transcription factor which might have regulatory effects on C-reactive protein synthesis in liver. Therefore, the C-reactive protein associated gene HNF1A seems to be a promising candidate gene for ischemic stroke...
2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27445228/erdheim-chester-disease-with-novel-gene-mutations-discovered-as-an-incidental-finding-in-explanted-liver-of-a-patient-with-hepatitis-c-cirrhosis-a-case-report-and-literature-review
#18
Xiaoyan Liao, John A Thorson, Tudor Hughes, John C Nguyen, Huan-You Wang, Grace Y Lin
Erdheim-Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis characterized by xanthogranulomatous infiltration of foamy histiocytes frequently involving bone and other organ systems. We herein report a unique case of ECD discovered incidentally in an explanted liver in a 65-year-old male with end-stage liver disease secondary to hepatitis C cirrhosis. Histological examination and immunohistochemical studies in the explanted liver revealed prominent foamy histiocytes that were CD68 positive, but CD1a and S100 negative...
September 2016: Pathology, Research and Practice
https://www.readbyqxmd.com/read/27445006/common-variants-of-hnf1a-gene-are-associated-with-diabetic-retinopathy-and-poor-glycemic-control-in-normal-weight-japanese-subjects-with-type-2-diabetes-mellitus
#19
Kazunori Morita, Junji Saruwatari, Takahiro Tanaka, Kentaro Oniki, Ayami Kajiwara, Hiroko Miyazaki, Akira Yoshida, Hideaki Jinnouchi, Kazuko Nakagawa
AIM: This study investigated the associations between the common hepatocyte nuclear factor-1A (HNF1A) variants and the risk of diabetic retinopathy (DR) in relation to the glycemic control and weight status. METHODS: A retrospective longitudinal analysis was conducted among 354 Japanese patients with type 2 diabetes mellitus (T2DM) (mean follow-up duration: 5.8±2.5 years). The multivariable-adjusted hazard ratio (HR) for the cumulative incidence of DR was calculated using a Cox proportional hazard model...
June 14, 2016: Journal of Diabetes and its Complications
https://www.readbyqxmd.com/read/27366637/genetic-markers-of-inflammation-may-not-contribute-to-metabolic-traits-in-mexican-children
#20
Neeti Vashi, Carolina Stryjecki, Jesus Peralta-Romero, Fernando Suarez, Jaime Gomez-Zamudio, Ana I Burguete-Garcia, Miguel Cruz, David Meyre
BACKGROUND: Low-grade chronic inflammation is a common feature of obesity and its cardio-metabolic complications. However, little is known about a possible causal role of inflammation in metabolic disorders. Mexico is among the countries with the highest obesity rates in the world and the admixed Mexican population is a relevant sample due to high levels of genetic diversity. METHODS: Here, we studied 1,462 Mexican children recruited from Mexico City. Six genetic variants in five inflammation-related genes were genotyped: rs1137101 (leptin receptor (LEPR)), rs7305618 (hepatocyte nuclear factor 1 alpha (HNF1A)), rs1800629 (tumor necrosis factor alpha (TNFA)), rs1800896, rs1800871 (interleukin-10 (IL-10)), rs1862513 (resistin (RETN))...
2016: PeerJ
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