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https://www.readbyqxmd.com/read/29329489/mycophenolic-acid-and-its-metabolites-in-kidney-transplant-recipients-a-semimechanistic-enterohepatic-circulation-model-to-improve-estimating-exposure
#1
Malek Okour, Pamala A Jacobson, Mariam A Ahmed, Ajay K Israni, Richard C Brundage
Mycophenolic acid (MPA) is an approved immunosuppressive agent widely prescribed to prevent rejection after kidney transplantation. Wide between-subject variability (BSV) in MPA exposure exists which in part may be due to variability in enterohepatic recirculation (EHC). Several modeling strategies were developed to evaluate EHC as part of MPA pharmacokinetics, however mechanistic representation of EHC is limited. These models have not provided a satisfactory representation of the physiology of EHC in their modeling assumptions...
January 12, 2018: Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/29324546/applying-precision-medicine-to-ovarian-cancer-proof-of-principle-for-a-molecular-second-look
#2
Melissa Schwartz, Olga Camacho-Vanegas, Ashley M Wood, Matthew Dashkoff, Courtney Whitelock, Timothy T Harkins, Carmel J Cohen, Ann Marie Beddoe, Peter Dottino, John A Martignetti
OBJECTIVES: The objectives of this study were to assess if targeted investigation for tumor-specific mutations by ultradeep DNA sequencing of peritoneal washes of ovarian cancer patients after primary surgical debulking and chemotherapy, and clinically diagnosed as disease free, provides a more sensitive and specific method to assess actual treatment response and tailor future therapy and to compare this "molecular second look" with conventional cytology and histopathology-based findings...
January 10, 2018: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/29289833/long-non-coding-rna-hnf1a-as1-promotes-cell-proliferation-and-invasion-via-regulating-mir-17-5p-in-non-small-cell-lung-cancer
#3
Guoyu Zhang, Xiaokang An, Huiya Zhao, Qingyong Zhang, Hui Zhao
Long non-coding RNA HNF1A-antisense 1 (lncRNA HNF1A-AS1) plays important roles in the progression of human tumors. The aim of this study is to unravel the underlying mechanism of HNF1A-AS1 in non-small cell lung cancer (NSCLC). In the present study, we found that HNF1A-AS1 was upregulation in NSCLC tissues and cell lines. High HNF1A-AS1 expression was associated with patients' advanced TNM stage and lymph node metastasis. Reduced HNF1A-AS1 expression inhibited lung cancer cells proliferation, invasion and increased cells apoptosis rate...
December 27, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/29289465/investigating-the-role-of-transcription-factors-of-pancreas-development-in-pancreatic-cancer
#4
REVIEW
Ahmad Abu Turab Naqvi, Gulam Mustafa Hasan, Md Imtaiyaz Hassan
Pancreatic cancer (PC) is the seventh most common cause of cancer-related deaths worldwide that kills more than 300,000 people every year. Prognosis of PC is very poor with a five-year survival rate about 5%. The most common and highly observed type of PC is pancreatic ductal adenocarcinoma (PDAC). It is preceded by the progression of precursor lesions such as Pancreatic Intraepithelial Neoplasia (PanIN), Intraductal Papillary Neoplasm (IPMN) and Mucinous Cystic Neoplasm (MCN). PanIN is the most common among these premalignant lesions...
December 24, 2017: Pancreatology: Official Journal of the International Association of Pancreatology (IAP) ... [et Al.]
https://www.readbyqxmd.com/read/29282384/hepatocyte-nuclear-factor-1%C3%AE-mutated-hepatocellular-adenomas-an-atypical-presentation
#5
Camila Maria Neves Sousa, Patricia Maria Miranda Gadelha, Rafaella de Sousa Cartaxo, George Washington Holanda Pedrosa, Rodrigo Schuler Honorio, José Milton de Castro Lima, Gustavo Rêgo Coelho, Clovis Rêgo Coelho
Hepatocellular adenomas (HCAs) are rare benign monoclonal hepatic tumors that commonly occur in females (3-4 per 100,000 women) due to the use of oral contraceptives, its primary risk factor. Recently, HCAs have been classified into 4 distinct subtypes according to genotypic and phenotypic characteristics and clinical features: inflammatory HCA (40-50%), which are hypervascular with marked peliosis and a tendency to bleed; hepatocyte nuclear factor 1α (HNF1A)-mutated HCA (H-HCA, 30-40%) that are diffusely steatotic and rarely undergo malignant transformation; β-catenin activated HCA (10-15%), which frequently undergo malignant transformation and may seem hepatocellular carcinoma on imaging; and unclassified HCA (10-25%)...
September 2017: Case Reports in Gastroenterology
https://www.readbyqxmd.com/read/29280746/congenital-hyperinsulinism-diagnosis-and-treatment-update
#6
Hüseyin Demirbilek, Khalid Hussain
Pancreatic β-cells are finely tuned to secrete insulin so that plasma glucose levels are maintained within a narrow physiological range (3.5-5.5 mmol/L). Hyperinsulinaemic hypoglycaemia (HH) is the inappropriate seretion of insulin in the presence of low plasma glucose levels and leads to severe and persistent hypoglycaemia in neonates and children. Mutations in 12 different key genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, UCP2, HNF4A, HNF1A, HK1, PGM1 and PMM2) that are involved in the regulation of insulin secretion from pancreatic β-cells have been described to be responsible for the underlying molecular mechanisms leading to congenital HH...
December 27, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29222740/a-case-of-maturity-onset-diabetes-of-the-young-mody3-in-a-family-with-a-novel-hnf1a-gene-mutation-in-five-generations
#7
A K Ovsyannikova, O D Rymar, D E Ivanoshchuk, Svetlana V Mikhailova, E V Shakhtshneider, P S Orlov, E S Malakhina, M I Voevoda
Diabetes mellitus with autosomal dominant inheritance, i.e., maturity-onset diabetes of the young (MODY), is a genetic form of diabetes mellitus. The MODY phenotype is associated with gene mutations leading to pancreatic β-cell dysfunction. Here, we present the clinical case of a 50-year-old proband with familial diabetes mellitus in five generations (proband, her mother, grandmother, great-grandfather, and son). This disease is most likely associated with the novel Ser6Arg mutation in the HNF1A gene, which was identified in four family members...
December 8, 2017: Diabetes Therapy: Research, Treatment and Education of Diabetes and related Disorders
https://www.readbyqxmd.com/read/29216278/systematic-integrative-analysis-of-gene-expression-identifies-hnf4a-as-the-central-gene-in-pathogenesis-of-non-alcoholic-steatohepatitis
#8
Cristina Baciu, Elisa Pasini, Marc Angeli, Katherine Schwenger, Jenifar Afrin, Atul Humar, Sandra Fischer, Keyur Patel, Johane Allard, Mamatha Bhat
Non-alcoholic fatty liver disease (NAFLD) is the most common chronic liver disease in the Western world, and encompasses a spectrum from simple steatosis to steatohepatitis (NASH). There is currently no approved pharmacologic therapy against NASH, partly due to an incomplete understanding of its molecular basis. The goal of this study was to determine the key differentially expressed genes (DEGs), as well as those genes and pathways central to its pathogenesis. We performed an integrative computational analysis of publicly available gene expression data in NASH from GEO (GSE17470, GSE24807, GSE37031, GSE89632)...
2017: PloS One
https://www.readbyqxmd.com/read/29207974/spectrum-of-mutations-in-monogenic-diabetes-genes-identified-from-high-throughput-dna-sequencing-of-6888-individuals
#9
Vikas Bansal, Johann Gassenhuber, Tierney Phillips, Glenn Oliveira, Rebecca Harbaugh, Nikki Villarasa, Eric J Topol, Thomas Seufferlein, Bernhard O Boehm
BACKGROUND: Diagnosis of monogenic as well as atypical forms of diabetes mellitus has important clinical implications for their specific diagnosis, prognosis, and targeted treatment. Single gene mutations that affect beta-cell function represent 1-2% of all cases of diabetes. However, phenotypic heterogeneity and lack of family history of diabetes can limit the diagnosis of monogenic forms of diabetes. Next-generation sequencing technologies provide an excellent opportunity to screen large numbers of individuals with a diagnosis of diabetes for mutations in disease-associated genes...
December 6, 2017: BMC Medicine
https://www.readbyqxmd.com/read/29185012/systems-biology-of-the-imidia-biobank-from-organ-donors-and-pancreatectomised-patients-defines-a-novel-transcriptomic-signature-of-islets-from-individuals-with-type-2-diabetes
#10
Michele Solimena, Anke M Schulte, Lorella Marselli, Florian Ehehalt, Daniela Richter, Manuela Kleeberg, Hassan Mziaut, Klaus-Peter Knoch, Julia Parnis, Marco Bugliani, Afshan Siddiq, Anne Jörns, Frédéric Burdet, Robin Liechti, Mara Suleiman, Daniel Margerie, Farooq Syed, Marius Distler, Robert Grützmann, Enrico Petretto, Aida Moreno-Moral, Carolin Wegbrod, Anke Sönmez, Katja Pfriem, Anne Friedrich, Jörn Meinel, Claes B Wollheim, Gustavo B Baretton, Raphael Scharfmann, Everson Nogoceke, Ezio Bonifacio, Dorothée Sturm, Birgit Meyer-Puttlitz, Ugo Boggi, Hans-Detlev Saeger, Franco Filipponi, Mathias Lesche, Paolo Meda, Andreas Dahl, Leonore Wigger, Ioannis Xenarios, Mario Falchi, Bernard Thorens, Jürgen Weitz, Krister Bokvist, Sigurd Lenzen, Guy A Rutter, Philippe Froguel, Manon von Bülow, Mark Ibberson, Piero Marchetti
AIMS/HYPOTHESIS: Pancreatic islet beta cell failure causes type 2 diabetes in humans. To identify transcriptomic changes in type 2 diabetic islets, the Innovative Medicines Initiative for Diabetes: Improving beta-cell function and identification of diagnostic biomarkers for treatment monitoring in Diabetes (IMIDIA) consortium ( www.imidia.org ) established a comprehensive, unique multicentre biobank of human islets and pancreas tissues from organ donors and metabolically phenotyped pancreatectomised patients (PPP)...
November 28, 2017: Diabetologia
https://www.readbyqxmd.com/read/29175806/the-distribution-of-different-types-of-diabetes-in-childhood-a-single-center-experience
#11
Belma Haliloğlu, Saygın Abali, Fuat Buğrul, Enes Çelik, Serpil Baş, Zeynep Atay, Tülay Güran, Serap Turan, Abdullah Bereket
OBJECTIVE: Type 1 diabetes (T1D) is the most common cause of diabetes in childhood but type 2 diabetes (T2D) and maturity onset diabetes of the young (MODY) are emerging and noteworthy causes of diabetes in youths. The aim of the study is to determine the distribution, trends and clinical features of the different types of diabetes in childhood in a tertiary single-center. METHODS: Children and adolescents aged 0-18 years who were diagnosed "diabetes/persistent hyperglycemia" between January 1999 and December 2016, were reviewed...
November 24, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29169850/family-based-analysis-of-ggt1-and-hnf1a-gene-polymorphisms-in-patients-with-polycystic-ovary-syndrome
#12
Xinghua Xu, Lang Qin, Ye Tian, Min Wang, Guangyao Li, Yanzhi Du, Zi-Jiang Chen, Weiping Li
Polycystic ovary syndrome (PCOS) is a complex endocrine-metabolic disease. Previous studies indicate that genes GGT1 and HNF1A may contribute to the abnormal glucose metabolism and altered lipid profile that are important clinical features of PCOS. In the current study, the correlation between polymorphisms in the GGT1 and HNF1A genes and PCOS was explored. A total of 310 family trios were studied and the transmission disequilibrium test (TDT) was used to assess the linkage between PCOS and three single-nucleotide polymorphisms (SNP) (rs4820599 of GGT1, rs7305618 and rs2393791 of HNF1A)...
November 7, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29154799/integrative-omics-data-analyses-of-repeated-dose-toxicity-of-valproic-acid-in-vitro-reveal-new-mechanisms-of-steatosis-induction
#13
Simone G J van Breda, Sandra M H Claessen, Marcel van Herwijnen, Daniël H J Theunissen, Danyel G J Jennen, Theo M C M de Kok, Jos C S Kleinjans
Valproic acid (VPA) is a very potent anti-cancer and neuro-protective drug probably by its HDAC inhibiting properties, which may cause steatosis in the liver. The present study investigates the effect of repetitive VPA treatment of primary human hepatocytes (PHH) on whole genome gene expression-, DNA methylation-, and miRNA changes, using microarrays and integrated data analyses. PHH were exposed to a non-cytotoxic dose of VPA for 5days daily which induced lipid accumulation. Part of the PHH was left untreated for 3days for studying the persistence of 'omics' changes...
November 14, 2017: Toxicology
https://www.readbyqxmd.com/read/29153843/aberrant-activation-of-a-gastrointestinal-transcriptional-circuit-in-prostate-cancer-mediates-castration-resistance
#14
Shipra Shukla, Joanna Cyrta, Devan A Murphy, Edward G Walczak, Leili Ran, Praveen Agrawal, Yuanyuan Xie, Yuedan Chen, Shangqian Wang, Yu Zhan, Dan Li, Elissa W P Wong, Andrea Sboner, Himisha Beltran, Juan Miguel Mosquera, Jessica Sher, Zhen Cao, John Wongvipat, Richard P Koche, Anuradha Gopalan, Deyou Zheng, Mark A Rubin, Howard I Scher, Ping Chi, Yu Chen
Prostate cancer exhibits a lineage-specific dependence on androgen signaling. Castration resistance involves reactivation of androgen signaling or activation of alternative lineage programs to bypass androgen requirement. We describe an aberrant gastrointestinal-lineage transcriptome expressed in ∼5% of primary prostate cancer that is characterized by abbreviated response to androgen-deprivation therapy and in ∼30% of castration-resistant prostate cancer. This program is governed by a transcriptional circuit consisting of HNF4G and HNF1A...
November 3, 2017: Cancer Cell
https://www.readbyqxmd.com/read/29145164/long-noncoding-rna-hnf1a-as1-indicates-a-poor-prognosis-of-colorectal-cancer-and-promotes-carcinogenesis-via-activation-of-the-wnt-%C3%AE-catenin-signaling-pathway
#15
Xin Zhang, Yumin Xiong, Fengying Tang, Ying Bian, Yanhui Chen, Fengli Zhang
Long non-coding RNAs (lncRNAs) have been identified to play critical roles in tumorigenesis. LncRNA HNF1A-AS1 has been suggested to act as an oncogene and serves as a novel prognostic biomarker for various cancer. However, the biological role and clinical significance of lncRNA HNF1A-AS1 in colorectal cancer (CRC) have yet to be fully elusive. Therefore, the present study was designed to determine the expression of lncRNA HNF1A-AS1 in patients with CRC, the role of lncRNA HNF1A-AS1 in CRC cells, as well as the underlying regulatory mechanisms...
October 24, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/29120028/precision-medicine-for-monogenic-diabetes-from-a-survey-to-the-development-of-a-next-generation-diagnostic-panel
#16
Sakina Kherra, Jean-Louis Blouin, Federico Santoni, Valerie Schwitzgebel
Monogenic diabetes (MD) accounts for 1-2% of all diabetes cases. Because of its wide phenotypic spectrum, MD is often misdiagnosed as type 1 or type 2 diabetes. While clinical and biochemical parameters can suggest MD, a definitive diagnosis requires genetic analysis. We conducted a survey among clinicians specialising in diabetes to document the cases with MD. Of 74 clinically suspected MD patients, 46% had undergone genetic analysis, which was mostly conducted using Sanger's classical sequencing method. The most common recorded mutations were located in the GCK gene, followed by the mitochondrial genome (m...
November 9, 2017: Swiss Medical Weekly
https://www.readbyqxmd.com/read/29109103/hepatocyte-nuclear-factor-1a-deficiency-causes-hemolytic-anemia-in-mice-by-altering-erythrocyte-sphingolipid-homeostasis
#17
Karin von Wnuck Lipinski, Sarah Weske, Petra Keul, Susann Peters, Hideo A Baba, Gerd Heusch, Markus H Gräler, Bodo Levkau
The Hepatocyte Nuclear Factor (HNF) family regulates complex networks of metabolism and organ development. Human mutations in its prototypical member HNF1A cause maturity-onset of diabetes of the young (MODY) type 3. In this study, we identified an important role for HNF1A in the preservation of erythrocyte membrane integrity, calcium homeostasis and osmotic resistance through a yet unrecognized link of HNF1A to sphingolipid homeostasis. HNF1A(-/-) mice displayed microcytic hypochromic anemia with reticulocytosis that was partially compensated by avid extramedullary erythropoiesis at all erythroid stages in the spleen thereby excluding erythroid differentiation defects...
November 6, 2017: Blood
https://www.readbyqxmd.com/read/29107759/the-unique-clinical-spectrum-of-maturity-onset-diabetes-of-the-young-type-3
#18
Yael Lebenthal, Naama Fisch Shvalb, Yael Gozlan, Ariel Tenenbaum, Yardena Tenenbaum-Rakover, Emmanuel Vaillant, Phillipe Froguel, Martine Vaxillaire, Galia Gat-Yablonski
Phenotypic variability in maturity-onset diabetes of the young (MODY) makes screening criteria for genomic analysis challenging. We describe the clinical spectrum in a large pedigree with HNF1A-MODY; as generations progressed, the course and outcome became poorer. Although uncommon, pancreatic autoantibodies and diabetes ketoacidosis should not exclude the diagnosis of MODY.
October 28, 2017: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/29107594/genes-associated-with-pancreas-development-and-function-maintain-open-chromatin-in-ipscs-generated-from-human-pancreatic-beta-cells
#19
Matthias Thurner, Liraz Shenhav, Agata Wesolowska-Andersen, Amanda J Bennett, Amy Barrett, Anna L Gloyn, Mark I McCarthy, Nicola L Beer, Shimon Efrat
Current in vitro islet differentiation protocols suffer from heterogeneity and low efficiency. Induced pluripotent stem cells (iPSCs) derived from pancreatic beta cells (BiPSCs) preferentially differentiate toward endocrine pancreas-like cells versus those from fibroblasts (FiPSCs). We interrogated genome-wide open chromatin in BiPSCs and FiPSCs via ATAC-seq and identified ∼8.3k significant, differential open chromatin sites (DOCS) between the two iPSC subtypes (false discovery rate [FDR] < 0.05). DOCS where chromatin was more accessible in BiPSCs (Bi-DOCS) were significantly enriched for known regulators of endodermal development, including bivalent and weak enhancers, and FOXA2 binding sites (FDR < 0...
November 14, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/29101303/pancreatic-ductal-adenocarcinoma-subtyping-using-the-biomarkers-hepatocyte-nuclear-factor-1a-and-cytokeratin-81-correlates-with-outcome-and-treatment-response
#20
Alexander Muckenhuber, Anne Katrin Berger, Anna Melissa Schlitter, Katja Steiger, Björn Konukiewitz, Andreas Trumpp, Roland Eils, Jens Werner, Helmut Friess, Irene Esposito, Günter Klöppel, Guralp O Ceyhan, Moritz Jesinghaus, Carsten Denkert, Marcus Bahra, Albrecht Stenzinger, Martin R Sprick, Dirk Jäger, Christoph Springfeld, Wilko Weichert
PURPOSE: Pancreatic ductal adenocarcinoma (PDAC) is associated with a dismal prognosis and poor therapeutic response to current chemotherapy regimens in unselected patient populations. Recently, it has been shown that PDAC may be stratified into functionally and therapeutically relevant molecular subgroups and that some of these subtypes can be recapitulated by immunohistochemistry for KRT81 (QM/squamous/basal like) and HNF1A (non-QM, overlap with exocrine/ADEX subtype). EXPERIMENTAL DESIGN: We validated the different outcome of the HNF1A / KRT81 PDAC subtypes in two independent cohorts of surgically treated patients and examined the treatment response to chemotherapy in a third cohort of unresectable patients...
November 3, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
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