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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
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
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
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...
September 12, 2016: Canadian Journal of Diabetes
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
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
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
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...
May 21, 2016: Oncotarget
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
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
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
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
H Heuvel-Borsboom, H W de Valk, M Losekoot, J Westerink
Maturity onset diabetes of the young (MODY) is a monogenic, autosomal dominant form of diabetes characterised by mutations in genes resulting in dysfunction of pancreatic β-cells and subsequent insulin production. We present a family with HNF1A-MODY due to a likely pathogenic mutation in HNF1A (c.59G>A, p.Gly20Glu), diagnosed a long time after the first diagnosis of diabetes. Currently 13 MODY subtypes caused by mutations in 13 genes, are known. We describe the four most prevalent forms in more detail, i...
June 2016: Netherlands Journal of Medicine
Renata P Dotto, Fernando M A Giuffrida, Luciana Franco, Andreia L G Mathez, Leticia S Weinert, Sandra P Silveiro, Joao R Sa, Andre F Reis, Magnus R Dias-da-Silva
Thirty-two patients with diabetes negative for point mutations in GCK and HNF1A underwent further molecular screening of GCK, HNF1A, HNF4A, and HNF1B by MLPA analysis. We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who developed rapidly progressive renal failure and death.
June 2016: Diabetes Research and Clinical Practice
R Martínez, C Fernández-Ramos, A Vela, T Velayos, A Aguayo, I Urrutia, I Rica, L Castaño
CONTEXT: Congenital hyperinsulinism (CHI) is a clinically and genetically heterogeneous disease characterized by severe hypoglycemia caused by inappropriate insulin secretion by pancreatic β-cells. OBJECTIVE: To characterize clinically and genetically CHI patients in Spain. DESIGN AND METHODS: We included 50 patients with CHI from Spain. Clinical information was provided by the referring clinicians. Mutational analysis was carried out for KCNJ11, ABCC8, and GCK genes...
June 2016: European Journal of Endocrinology
Birgit Knebel, Susanne Mack, Jutta Haas, Mona Kathrin Herman-Friede, Simone Lange, Oliver Schubert, Jorg Kotzka, Dirk Muller-Wieland
BACKGROUND: Maturity onset diabetes of the young (MODY) is an autosomal dominant form of non-insulin-dependent diabetes mellitus caused by mutations in at least 13 different genes. The hepatocyte nuclear factor (HNF)-1α gene is affected in the most common form (HNF1A-MODY [MODY3]). CASE PRESENTATION: We describe the co-inheritance of a novel heterozygous missense mutation c.1761C > G (p.Pro588Ala) with a novel complex deletion insertion mutation (c.1765_1766delinsGCCCGfs86*) in the HNF-1α gene among affected members of one family...
2016: BMC Medical Genetics
Anup K Nair, Leslie J Baier
Genetic studies in large outbred populations have documented a complex, highly polygenic basis for type 2 diabetes (T2D). Most of the variants currently known to be associated with T2D risk have been identified in large studies that included tens of thousands of individuals who are representative of a single major ethnic group such as European, Asian, or African. However, most of these variants have only modest effects on the risk for T2D; identification of definitive 'causal variant' or 'causative loci' is typically lacking...
October 2015: Review of Diabetic Studies: RDS
Neda Yahoo, Behshad Pournasr, Jalal Rostamzadeh, Mohammad Saeed Hakhamaneshi, Asghar Ebadifar, Fardin Fathi, Hossein Baharvand
Embryonic stem (ES) cell-derived hepatocytes have the potential to be used for basic research, regenerative medicine, and drug discovery. Recent reports demonstrated that in addition to conventional differentiation inducers such as chemical compounds and cytokines, overexpression of lineage-specific transcription factors could induce ES cells to differentiate to a hepatic fate. Here, we hypothesized that lentivirus-mediated inducible expression of hepatic lineage transcription factors could enhance mouse ES cells to hepatocyte-like cells...
May 20, 2016: Biochemical and Biophysical Research Communications
José Timsit, Cécile Saint-Martin, Danièle Dubois-Laforgue, Christine Bellanné-Chantelot
Maturity-onset diabetes of the young (MODY) is a group of monogenic diseases that results in primary defects in insulin secretion and dominantly inherited forms of nonautoimmune diabetes. Although many genes may be associated with monogenic diabetes, heterozygous mutations in 6 of them are responsible for the majority of cases of MODY. Glucokinase (GCK)-MODY is due to mutations in the glucokinase gene, 3 MODY subtypes are associated with mutations in the hepatocyte nuclear factor (HNF) transcription factors, and 2 others with mutations in ABCC8 and KCNJ11, which encode the subunits of the ATP-dependent potassium channel in pancreatic beta cells...
April 18, 2016: Canadian Journal of Diabetes
Zhiqian Liu, Xiaoqing Wei, Aiqun Zhang, Chonghui Li, Jia Bai, Jiahong Dong
Long non-coding RNAs (lncRNAs) had been proved to be pivotal regulators in carcinogenesis. On the basis of competitive endogenous RNAs (ceRNAs) system, lncRNAs significantly expanded their regulating networks. In our research, we aimed to figure out the exact role of lncRNA HNF1A-AS1 in the pathogenesis of hepatocellular carcinoma (HCC), in a ceRNA-dependent way. First, we revealed: HNF1A-AS1 was frequently overexpressed in HCC tissues and cell lines and its relative high expression was closely related to larger tumor size, multiple tumor lesions, poor differentiation and advanced TNM stage...
May 13, 2016: Biochemical and Biophysical Research Communications
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