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HNF1A

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https://www.readbyqxmd.com/read/29762827/upregulation-of-long-non-coding-rna-hnf1a-as1-is-associated-with-poor-prognosis-in-urothelial-carcinoma-of-the-bladder
#1
Y-H Wang, Y-H Liu, Y-J Ji, Q Wei, T-B Gao
OBJECTIVE: Long noncoding RNAs (lncRNAs) play important roles in the pathogenesis of bladder cancer. A recent study reported that lncRNA HNF1A-AS1 (HNF1A-AS1) was upregulated in urothelial carcinoma of the bladder (UCB) and served as a tumor promoter. However, the clinical significance of HNF1A-AS1 in the prognosis of patients with UCB was poorly understood. This work was designed to investigate the relationship between HNF1A-AS1 expression level and the prognosis of UCB. PATIENTS AND METHODS: Relative expression levels of HNF1A-AS1 in UCB tissues were determined by qRT-PCR...
April 2018: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/29758564/monogenic-diabetes-in-overweight-and-obese-youth-diagnosed-with-type-2-diabetes-the-today-clinical-trial
#2
Jeffrey W Kleinberger, Kenneth C Copeland, Rachelle G Gandica, Morey W Haymond, Lynne L Levitsky, Barbara Linder, Alan R Shuldiner, Sherida Tollefsen, Neil H White, Toni I Pollin
PurposeMonogenic diabetes accounts for 1-2% of diabetes cases. It is often undiagnosed, which may lead to inappropriate treatment. This study was performed to estimate the prevalence of monogenic diabetes in a cohort of overweight/obese adolescents diagnosed with type 2 diabetes (T2D).MethodsSequencing using a custom monogenic diabetes gene panel was performed on a racially/ethnically diverse cohort of 488 overweight/obese adolescents with T2D in the Treatment Options for Type 2 Diabetes in Adolescents and Youth (TODAY) clinical trial...
October 12, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29749669/in-silico-analysis-of-single-cell-rna-sequencing-data-from-3-and-7-days-old-mouse-spermatogonial-stem-cells-to-identify-their-differentially-expressed-genes-and-transcriptional-regulators
#3
Sajjad Sisakhtnezhad
Spermatogonial stem cells (SSCs), which are at the basis of spermatogenesis process, are valuable cells with different applications in biotechnology and regenerative medicine. Understanding the molecular basis of SSC self-renewal and differentiation at various developmental stages of the male organism is crucial to find key factors in the SSCs fate and function. Therefore, this study was aimed to use single-cell RNA-sequencing dataset analysis for identification of differentially expressed genes (DEGs) and their regulators in 3 and 7 days old mouse-derived single SSCs (mSSCs)...
May 11, 2018: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/29739729/congenital-hyperinsulinism-and-evolution-to-sulfonylurea-responsive-diabetes-later-in-life-due-to-a-novel-homozygous-p-l171f-abcc8-mutation
#4
Emregül Işık, Huseyin Demirbilek, Jayne A L Houghton, Sian Ellard, Sarah E Flanagan, Khalid Hussain
BACKGROUND: Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infants and children. Recessive inactivating mutations in the ABCC8 and KCNJ11 genes account for approximately 50 % of all CHI cases. Hyperinsulinaemic hypoglycaemia (HH) in infancy and diabetes in later life have been reported in subjects with HNF1A , HNF4A and ABCC8 mutations. CASE REPORT: Herein, we present a child who was diagnosed with CHI at birth, then developed diabetes mellitus at the age of 9 years due to a novel homozygous missense, p...
March 29, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29726111/clinical-usefulness-of-comprehensive-genetic-screening-in-mody-a-novel-abcc8-mutation-in-a-previously-screened-family
#5
Stephanie Robyn Johnson, Paul Leo, Louise Sonia Conwell, Mark Harris, Matthew Arthur Brown, Emma Letitia Duncan
Maturity-onset diabetes of the young (MODY) is the commonest form of monogenic diabetes, resulting from dominant mutations in one of fourteen genes that regulate beta-cell function (HNF4A, GCK, HNF1A, PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4, INS, BLK, ABCC8,KCNJ11 and APPL1 1,2 ). MODY accounts for 2-2.5% of childhood diabetes 3 , yet MODY genetic screening is uncommon, even in highly suggestive families, and when performed often limited to the commonest genes (e.g.HNF1A and GCK) 4 .
May 4, 2018: Journal of Diabetes
https://www.readbyqxmd.com/read/29721686/quantitative-correlation-between-uptake-of-gd-bopta-on-hepatobiliary-phase-and-tumor-molecular-features-in-patients-with-benign-hepatocellular-lesions
#6
Edouard Reizine, Giuliana Amaddeo, Frederic Pigneur, Laurence Baranes, François Legou, Sebastien Mulé, Benhalima Zegai, Vincent Roche, Alexis Laurent, Alain Rahmouni, Julien Calderaro, Alain Luciani
PURPOSE: The purpose of our study was to correlate the quantitative analysis of benign hepatocellular tumor uptake on delayed hepatobiliary phase (HBP) imaging with the quantitative level of OATP expression. METHODS: This single-center retrospective study, which took place between September 2009 and March 2015, included 20 consecutive patients with a proven pathologic and immunohistochemical (IHC) diagnosis of FNH or HCA, including quantification of the OATP expression...
May 2, 2018: European Radiology
https://www.readbyqxmd.com/read/29672926/insights-into-the-etiology-associated-gene-regulatory-networks-in-hepatocellular-carcinoma-from-the-cancer-genome-atlas
#7
Veerabrahma Pratap Seshachalam, Karthik Sekar, Kam M Hui
BACKGROUND AND AIM: Hepatitis B virus, hepatitis C virus, alcoholic consumption and non-alcoholic fatty liver are the major known risk factors for Hepatocellular carcinoma (HCC). There have been very few studies comparing the underlying biological mechanisms associated with the different etiologies of HCC. In this study, we hypothesized the existence of different regulatory networks associated with different liver disease etiologies involved in hepatocarcinogenesis. METHODS: Using upstream regulatory analysis tool in ingenuity pathway analysis software, URs were predicted using differential expressed genes for HCC to facilitate the interrogation of global gene regulation...
April 19, 2018: Journal of Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/29666556/maturity-onset-diabetes-of-the-young-due-to-hnf1a-variants-in-croatia
#8
Tamara Pavić, Agata Juszczak, Edita Pape Medvidović, Carla Burrows, Mario Šekerija, Amanda J Bennett, Jadranka Ćuća Knežević, Anna L Gloyn, Gordan Lauc, Mark I McCarthy, Olga Gornik, Katharine R Owen
Introduction: Maturity onset diabetes of the young due to HNF1A mutations (HNF1A-MODY) is the most frequent form of monogenic diabetes in adults. It is often misdiagnosed as type 1 or type 2 diabetes, but establishing genetic diagnosis is important, as treatment differs from the common types of diabetes. HNF1A-MODY has not been investigated in Croatia before due to limited access to genetic testing. In this study we aimed to describe the characteristics of young adults diagnosed with diabetes before the age of 45 years, who have rare HNF1A allele variants, and estimate the prevalence of HNF1A-MODY in Croatia...
June 15, 2018: Biochemia Medica: časopis Hrvatskoga Društva Medicinskih Biokemičara
https://www.readbyqxmd.com/read/29597128/generation-of-an-induced-pluripotent-stem-cell-ipsc-line-from-a-patient-with-maturity-onset-diabetes-of-the-young-type-3-mody3-carrying-a-hepatocyte-nuclear-factor-1-alpha-hnf1a-mutation
#9
Frank Griscelli, Hélène Ezanno, Mathis Soubeyrand, Olivier Feraud, Noufissa Oudrhiri, Amélie Bonnefond, Ali G Turhan, Philippe Froguel, Annelise Bennaceur-Griscelli
Heterozygous non-synonymous (p.S142F) mutation in HNF1A leads to maturity-onset diabetes of the young (MODY) type 3, which is a subtype of dominant inherited young-onset non-autoimmune diabetes due to the defect of insulin secretion from pancreatic beta cells. We generated induced pluripotent stem cells (iPSCs) from a patient with HNF1A p.S142F mutation. Cells from this patient, which were reprogrammed by non-integrative viral transduction had normal karyotype, harboured the HNF1A p.S142F mutation, expressed pluripotency hallmarks...
March 7, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29596321/transcriptomic-analysis-of-gonadal-adipose-tissue-in-male-mice-exposed-perinatally-to-2-2-4-4-tetrabromodiphenyl-ether-bde-47
#10
Aser Abrha, Alexander Suvorov
For the majority of lipophilic compounds, adipose tissue is traditionally considered as a storage depot and only rarely as a target organ. Meanwhile, abnormalities in adipose tissue physiology induced by chemical exposure may contribute to the current epidemic of obesity and metabolic diseases. Polybrominated diphenyl ethers (PBDEs) are a group of lipophilic flame retardants found in the majority of human samples in North America. Their ability to alter the physiology of adipose tissue is unknown. We exposed pregnant mice to 0...
March 29, 2018: Toxics
https://www.readbyqxmd.com/read/29541223/long-non-coding-rna-hnf1a-as1-promotes-cell-viability-and-migration-in-human-bladder-cancer
#11
Zhihong Feng, Baolong Wang
Bladder cancer is among the most frequent types of genitourinary malignancies and results in high morbidity and mortality. Despite considerable progress in methods of bladder cancer diagnosis and treatment, the detailed underlying molecular mechanisms of bladder cancer remain unclear, and the prognosis of patients remains poor. In the present study, the role of long non-coding (lnc)RNA hepatocyte nuclear factor 1A (HNF1A)-antisense RNA (AS)1 in bladder cancer progression was examined in vitro . HNF1A-AS1 was overexpressed in clinical bladder cancer tissues and cultured bladder cancer cells...
April 2018: Oncology Letters
https://www.readbyqxmd.com/read/29493090/clinical-heterogeneity-of-hyperinsulinism-due-to-hnf1a-and-hnf4a-mutations
#12
Joanna Yuet-Ling Tung, Kara Boodhansingh, Charles A Stanley, Diva D De León
BACKGROUND: Dominant inactivating mutations in HNF1A and HNF4A have been described to cause hyperinsulinism (HI) before evolving to diabetes. However, information available in the literature regarding the clinical phenotype is limited. OBJECTIVE: To report the prevalence of HNF1A and HNF4A mutations in a large cohort of children with HI, and to describe their genotypes and phenotypes. DESIGN: Retrospective descriptive study. METHODS: Medical records were reviewed to extract clinical information...
March 1, 2018: Pediatric Diabetes
https://www.readbyqxmd.com/read/29486427/pharmacogenetics-and-target-identification-in-diabetes
#13
REVIEW
Ewan R Pearson
In diabetes, pharmacogenetics can be used both to identify patient subgroups who will have most benefit and/or least harm from a particularly treatment, and to gain insights into the molecular mechanisms of drug action and disease aetiology. There is increasing evidence that genetic variation alters response to diabetes treatments-both in terms of glycaemic response and side effects. This can be seen with dramatic impact on clinical care, in patients with genetic forms of diabetes such as Maturity Onset Diabetes of the Young caused by HNF1A mutations, and Neonatal diabetes due to activating mutations in ABCC8 or KCNJ11...
February 24, 2018: Current Opinion in Genetics & Development
https://www.readbyqxmd.com/read/29466992/the-hnf1%C3%AE-regulated-lncrna-hnf1a-as1-reverses-the-malignancy-of-hepatocellular-carcinoma-by-enhancing-the-phosphatase-activity-of-shp-1
#14
Chen-Hong Ding, Chuan Yin, Shi-Jie Chen, Liang-Zhi Wen, Kai Ding, Shu-Juan Lei, Jin-Pei Liu, Jian Wang, Kai-Xian Chen, Hua-Liang Jiang, Xin Zhang, Cheng Luo, Wei-Fen Xie
BACKGROUND: Our previous study has demonstrated that hepatocyte nuclear factor 1α (HNF1α) exerts potent therapeutic effects on hepatocellular carcinoma (HCC). However, the molecular mechanisms by which HNF1α reverses HCC malignancy need to be further elucidated. METHODS: lncRNA microarray was performed to identify the long noncoding RNAs (lncRNAs) regulated by HNF1α. Chromatin immunoprecipitation and luciferase reporter assays were applied to clarify the mechanism of the transcriptional regulation of HNF1α to HNF1A antisense RNA 1 (HNF1A-AS1)...
February 21, 2018: Molecular Cancer
https://www.readbyqxmd.com/read/29450745/clinical-management-of-women-with-monogenic-diabetes-during-pregnancy
#15
REVIEW
Laura T Dickens, Rochelle N Naylor
PURPOSE OF REVIEW: Monogenic diabetes accounts for 1-2% of all diabetes cases, but is frequently misdiagnosed as type 1, type 2, or gestational diabetes. Accurate genetic diagnosis directs management, such as no pharmacologic treatment for GCK-MODY, low-dose sulfonylureas for HNF1A-MODY and HNF4A-MODY, and high-dose sulfonylureas for KATP channel-related diabetes. While diabetes treatment is defined for the most common causes of monogenic diabetes, pregnancy poses a challenge to management...
February 15, 2018: Current Diabetes Reports
https://www.readbyqxmd.com/read/29439679/comprehensive-genomic-analysis-identifies-pathogenic-variants-in-maturity-onset-diabetes-of-the-young-mody-patients-in-south-india
#16
Viswanathan Mohan, Venkatesan Radha, Thong T Nguyen, Eric W Stawiski, Kanika Bajaj Pahuja, Leonard D Goldstein, Jennifer Tom, Ranjit Mohan Anjana, Monica Kong-Beltran, Tushar Bhangale, Suresh Jahnavi, Radhakrishnan Chandni, Vijay Gayathri, Paul George, Na Zhang, Sakthivel Murugan, Sameer Phalke, Subhra Chaudhuri, Ravi Gupta, Jingli Zhang, Sam Santhosh, Jeremy Stinson, Zora Modrusan, V L Ramprasad, Somasekar Seshagiri, Andrew S Peterson
BACKGROUND: Maturity-onset diabetes of the young (MODY) is an early-onset, autosomal dominant form of non-insulin dependent diabetes. Genetic diagnosis of MODY can transform patient management. Earlier data on the genetic predisposition to MODY have come primarily from familial studies in populations of European origin. METHODS: In this study, we carried out a comprehensive genomic analysis of 289 individuals from India that included 152 clinically diagnosed MODY cases to identify variants in known MODY genes...
February 13, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29424957/hnf1a-variant-energy-reduced-diets-and-insulin-resistance-improvement-during-weight-loss-the-pounds-lost-trial-and-direct
#17
Tao Huang, Tiange Wang, Yoriko Heianza, Dianjianyi Sun, Kerry Ivey, Ronen Durst, Dan Schwarzfuchs, Meir J Stampfer, George A Bray, Frank M Sacks, Iris Shai, Lu Qi
AIM: To determine whether weight-loss diets varying in macronutrients modulate the genetic effect of hepatocyte nuclear factor 1α (HNF1A) rs7957197 on weight loss and improvement of insulin resistance. MATERIALS AND METHODS: We analysed the interaction between HNF1A rs7957197 and weight-loss diets with regard to weight loss and insulin resistance improvement among 722 overweight/obese adults from a 2-year randomized weight-loss trial, the POUNDS Lost trial. The findings were replicated in another independent 2-year weight-loss trial, the Dietary Intervention Randomized Controlled Trial (DIRECT), in 280 overweight/obese adults...
February 9, 2018: Diabetes, Obesity & Metabolism
https://www.readbyqxmd.com/read/29408271/maturity-onset-diabetes-of-the-young-mody-in-tunisia-low-frequencies-of-gck-and-hnf1a-mutations
#18
S Ben Khelifa, R Martinez, A Dandana, I Khochtali, S Ferchichi, L Castaño
Maturity Onset Diabetes of the Young (MODY) is a monogenic form of diabetes characterized by autosomal dominant inheritance, an early clinical onset and a primary defect in β-cell function. Mutations in the GCK and HNF1A genes are the most common cause of MODY among Caucasians. The etiology of MODY in Tunisia stills a challenge for researchers. The aim of this study was to screen for mutations in GCK, HNF1A, HNF4A and INS genes in North African Tunisians subjects, in whom the clinical profile was very suggestive of MODY...
April 20, 2018: Gene
https://www.readbyqxmd.com/read/29383125/transcriptomic-features-of-primary-prostate-cancer-and-their-prognostic-relevance-to-castration-resistant-prostate-cancer
#19
Seok Joong Yun, Seon-Kyu Kim, Jayoung Kim, Eun-Jong Cha, Jang-Seong Kim, Sun-Jin Kim, Yun-Sok Ha, Ye-Hwan Kim, Pildu Jeong, Ho Won Kang, Jeong-Hwan Kim, Jong-Lyul Park, Young-Ki Choi, Sung-Kwon Moon, Yung-Hyun Choi, Seon-Young Kim, Wun-Jae Kim
Although various mechanisms of castration-resistant prostate cancer (CRPC) have been discovered, reliable biomarkers for monitoring CRPC progression are lacking. We sought to identify molecules that predict the progression of advanced prostate cancer (AdvPC) into CRPC. The study used primary-site samples ( N =45 for next-generation sequencing (NGS); N =243 for real-time polymerase chain reaction) from patients with prostate cancer (PC). Five public databases containing microarray data of AdvPC and CRPC samples were analyzed...
December 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/29371776/mutations-in-hnf1a-gene-are-not-a-common-cause-of-familial-young-onset-diabetes-in-iran
#20
Meysam Moghbeli, Bahram Naghibzadeh, Martha Ghahraman, Sedigheh Fatemi, Morteza Taghavi, Rahim Vakili, Mohammad Reza Abbaszadegan
Mutations in hepatocyte nuclear factor-1 alpha (HNF1A) as a homeodomain transcription factor which regulates variety of genes, are the most common cause of maturity-onset diabetes of the young (MODY). Detection of HNF1A mutations not only classifies the subtype, but also predicts the likely clinical course and may alters the method of treatment from insulin to the oral sulphonylureas, which is shown to improve glycemic control. The coding and promoter regions of HNF1A gene were screened for mutations in 34 unrelated Iranian MODY patients...
January 2018: Indian Journal of Clinical Biochemistry: IJCB
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