keyword
MENU ▼
Read by QxMD icon Read
search

HNF1A

keyword
https://www.readbyqxmd.com/read/28712822/association-study-of-hnf1a-polymorphisms-with-metabolic-syndrome-in-the-moroccan-population
#1
Imane Morjane, Rym Kefi, Hicham Charoute, Fouzia Lakbakbi El Yaagoubi, Meryem Hechmi, Rachid Saile, Sonia Abdelhak, Abdelhamid Barakat
AIMS: Variants in Hepatocyte Nuclear Factor 1 alpha (HNF1A) gene are associated with Metabolic Syndromeand its components independently. In this study, we aimed to assess the statistical association of the rs1169288, rs2464196 and rs735396 variants and haplotypes of HNF1A gene with metabolic syndrome (MS) and its components in a Moroccan population sample. METHODS: Three variants in the HNF1A gene were genotyped, rs1169288 A>C, rs2464196 G>A and rs735396 T>C in cases and controls from Moroccan population using KASPar(®) technology (KBioscience, UK)...
July 3, 2017: Diabetes & Metabolic Syndrome
https://www.readbyqxmd.com/read/28656277/hnf1a%C3%A2-as1-promotes-growth-and-metastasis-of-esophageal-squamous-cell-carcinoma-by-sponging-mir%C3%A2-214-to-upregulate-the-expression-of-sox-4
#2
Guannan Wang, Wugan Zhao, Xianzheng Gao, Dandan Zhang, Ye Li, Yanping Zhang, Wencai Li
Esophageal squamous cell carcinoma (ESCC) is one of the most common malignancies in the world, marked by dysphagia and weight loss, bringing great suffering to patients. HNF1A‑AS1 (HAS1), a long non-coding RNA (lncRNA), has been identified prevalently involved in various human cancers. However, the exact effects and molecular mechanisms of HAS1 in ESCC progression are still elusive. In this study, upregulated expression of HAS1 was detected in ESCC tissues and four human ESCC cell lines (KYSE70, KYSE450, EC109 and EC970) compared with normal tissues and cell lines...
June 8, 2017: International Journal of Oncology
https://www.readbyqxmd.com/read/28646562/argininosuccinate-synthase-1-ass1-a-marker-of-unclassified-hepatocellular-adenoma-and-high-bleeding-risk
#3
Elodie Henriet, Aya Abou Hammoud, Jean-William Dupuy, Benjamin Dartigues, Zakaria Ezzoukry, Nathalie Dugot-Senant, Thierry Leste-Lasserre, Nestor Pallares-Lupon, Macha Nikolski, Brigitte Le Bail, Jean-Frédéric Blanc, Charles Balabaud, Paulette Bioulac-Sage, Anne-Aurélie Raymond, Frédéric Saltel
Hepatocellular adenomas (HCA) are rare benign tumors divided into three main subgroups defined by patho-molecular features, HNF1A (H-HCA), mutated β-catenin (b-HCA) and inflammatory (IHCA). In the case of unclassified HCA (UHCA), which are currently identified by default, a high risk of bleeding remains a clinical issue. The objective of this study was to explore UHCA proteome with the aim to identify specific biomarkers. Following dissection of the tumoral (T) and non-tumoral (NT) tissue on formalin-fixed paraffin-embedded (FFPE) from HCA tissue sections using laser capture methodology, we performed mass spectrometry analysis to compare T and NT protein expression levels in HCA, H-HCA, IHCA, b-HCA, UHCA and focal nodular hyperplasia...
June 23, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28640116/distribution-of-somatic-mutations-of-cancer-related-genes-according-to-microsatellite-instability-status-in-korean-gastric-cancer
#4
Joonhong Park, Han Mo Yoo, Woori Jang, Soyoung Shin, Myungshin Kim, Yonggoo Kim, Seung-Woo Lee, Jeong Goo Kim
In studies of the molecular basis of gastric cancer (GC), microsatellite instability (MSI) is one of the key factors. Somatic mutations found in GC are expected to contribute to MSI-high (H) tumorigenesis. We estimated somatic mutation distribution according to MSI status in 52 matched pair GC samples using the Ion Torrent Ion S5 XL with the AmpliSeq Cancer Hotspot panel.Seventy-five (9.8%) somatic variants consisting of 34 hotspot mutations and 41 other likely pathogenic variants were identified in 34 GC samples...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28597946/comprehensive-screening-for-monogenic-diabetes-in-89-japanese-children-with-insulin-requiring-antibody-negative-type-1-diabetes
#5
Kikumi Ushijima, Maki Fukami, Tadayuki Ayabe, Satoshi Narumi, Misako Okuno, Akie Nakamura, Toshikazu Takahashi, Kenji Ihara, Kazuhiro Ohkubo, Emiko Tachikawa, Shoji Nakayama, Junichi Arai, Nobuyuki Kikuchi, Toru Kikuchi, Tomoyuki Kawamura, Tatsuhiko Urakami, Kenichiro Hata, Kazuhiko Nakabayashi, Yoichi Matsubara, Shin Amemiya, Tsutomu Ogata, Ichiro Yokota, Shigetaka Sugihara
BACKGROUND: Mutations in causative genes for neonatal diabetes or maturity-onset diabetes of the young have been identified in multiple patients with autoantibody-negative type 1 diabetes (T1D). OBJECTIVES: We aimed to clarify the prevalence and phenotypic characteristics of monogenic abnormalities among 89 children with autoantibody-negative insulin-requiring T1D. METHODS: Mutations in 30 genes were screened using next-generation sequencing, and copy-number alterations of 4 major causative genes were examined using multiplex-ligation-dependent probe amplification...
June 9, 2017: Pediatric Diabetes
https://www.readbyqxmd.com/read/28593615/a-single-dose-of-dapagliflozin-an-sglt-2-inhibitor-induces-higher-glycosuria-in-gck-and-hnf1a-mody-than-in-type-2-diabetes-mellitus
#6
J Hohendorff, M Szopa, J Skupien, M Kapusta, B Zapala, T Platek, S Mrozinska, T Parpan, W Glodzik, A Ludwig-Galezowska, B Kiec-Wilk, T Klupa, M T Malecki
AIMS: SGLT2 inhibitors are a new class of oral hypoglycemic agents used in type 2 diabetes (T2DM). Their effectiveness in maturity onset diabetes of the young (MODY) is unknown. We aimed to assess the response to a single dose of 10 mg dapagliflozin in patients with Hepatocyte Nuclear Factor 1 Alpha (HNF1A)-MODY, Glucokinase (GCK)-MODY, and type 2 diabetes. METHODS: We examined 14 HNF1A-MODY, 19 GCK-MODY, and 12 type 2 diabetes patients. All studied individuals received a single morning dose of 10 mg of dapagliflozin added to their current therapy of diabetes...
June 7, 2017: Endocrine
https://www.readbyqxmd.com/read/28591938/variants-in-mody-genes-associated-with-maternal-lipids-profiles-in-second-trimester-of-pregnancy
#7
Xiaojing Wang, Wei Li, Liangkun Ma, Fan Ping, Juntao Liu, Xueyan Wu, Jiangfeng Mao, Xi Wang, Min Nie
BACKGROUND: Dyslipidemia during pregnancy increase the risk of pregnancy complications. Lipid profiles has strong genetic determinant and numerous susceptibility loci has been identified. However, very few studies focused on the association of lipid-related loci and maternal serum lipids during pregnancy. We, for the first time, investigated the association of common variants in three MODY genes (HNF1A, HNF4A and HNF1B) with serum lipid concentrations and glucose metabolism related quantitative traits in the second trimester of pregnancy...
June 7, 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28590426/down-s-syndrome-and-triple-negative-breast-cancer-a-rare-occurrence-of-distinctive-clinical-relationship
#8
Nandini Dey, Amy Krie, Jessica Klein, Kirstin Williams, Amanda McMillan, Rachel Elsey, Yuliang Sun, Casey Williams, Pradip De, Brian Leyland-Jones
Down's syndrome (DS), the most common genetic cause of significant intellectual disability in children and adults is caused by the trisomy of either all or a part of human chromosome 21 (HSA21). Patients with DS mostly suffer from characteristic tumor types. Although individual patients of DS are at a higher risk for acute leukemia and testicular cancers, other types of solid tumors including breast cancers are mostly uncommon and have significantly lower-than-expected age-adjusted incidence rates. Except for an increased risk of retinoblastomas, and lymphomas, the risk of developing solid tumors has been found to be lower in both children and adults, and breast cancer was found to be almost absent (Hasle H...
June 7, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28556992/management-of-sulfonylurea-treated-monogenic-diabetes-in-pregnancy-implications-of-placental-glibenclamide-transfer
#9
REVIEW
M Shepherd, A J Brook, A J Chakera, A T Hattersley
The optimum treatment for HNF1A/HNF4A maturity-onset diabetes of the young and ATP-sensitive potassium (KATP ) channel neonatal diabetes is sulfonylureas outside pregnancy, but there is little evidence regarding the most appropriate treatment during pregnancy. Glibenclamide has been widely used in the treatment of gestational diabetes, but recent data have established that glibenclamide crosses the placenta and increases risk of macrosomia and neonatal hypoglycaemia. This raises questions about its use in pregnancy...
May 30, 2017: Diabetic Medicine: a Journal of the British Diabetic Association
https://www.readbyqxmd.com/read/28556356/identification-of-a-functional-enhancer-variant-within-the-chronic-pancreatitis-associated-spink1-c-101a-g-p-asn34ser-containing-haplotype
#10
Arnaud Boulling, Emmanuelle Masson, Wen-Bin Zou, Sumit Paliwal, Hao Wu, Prachand Issarapu, Seema Bhaskar, Emmanuelle Génin, David N Cooper, Zhao-Shen Li, Giriraj R Chandak, Zhuan Liao, Jian-Min Chen, Claude Férec
The haplotype harboring the SPINK1 c.101A>G (p.Asn34Ser) variant (also known as rs17107315:T>C) represents the most important heritable risk factor for idiopathic chronic pancreatitis identified to date. The causal variant contained within this risk haplotype has however remained stubbornly elusive. Herein, we set out to resolve this enigma by employing a hypothesis-driven approach. First, we searched for variants in strong linkage disequilibrium (LD) with rs17107315:T>C using HaploReg v4.1. Second, we identified two candidate SNPs by visual inspection of sequences spanning all 25 SNPs found to be in LD with rs17107315:T>C, guided by prior knowledge of pancreas-specific transcription factors and their cognate binding sites...
August 2017: Human Mutation
https://www.readbyqxmd.com/read/28438156/relative-contribution-of-type-1-and-type-2-diabetes-loci-to-the-genetic-etiology-of-adult-onset-non-insulin-requiring-autoimmune-diabetes
#11
Rajashree Mishra, Alessandra Chesi, Diana L Cousminer, Mohammad I Hawa, Jonathan P Bradfield, Kenyaita M Hodge, Vanessa C Guy, Hakon Hakonarson, Didac Mauricio, Nanette C Schloot, Knud B Yderstræde, Benjamin F Voight, Stanley Schwartz, Bernhard O Boehm, Richard David Leslie, Struan F A Grant
BACKGROUND: In adulthood, autoimmune diabetes can present as non-insulin-requiring diabetes, termed as 'latent autoimmune diabetes in adults' (LADA). In this study, we investigated established type 1 diabetes (T1D) and type 2 diabetes (T2D) genetic loci in a large cohort of LADA cases to assess where LADA is situated relative to these two well-characterized, classic forms of diabetes. METHODS: We tested the association of T1D and T2D GWAS-implicated loci in 978 LADA cases and 1057 non-diabetic controls of European ancestry using a linear mixed model...
April 25, 2017: BMC Medicine
https://www.readbyqxmd.com/read/28410371/determining-the-role-of-missense-mutations-in-the-pou-domain-of-hnf1a-that-reduce-the-dna-binding-affinity-a-computational-approach
#12
Sneha P, Thirumal Kumar D, George Priya Doss C, Siva R, Hatem Zayed
Maturity-onset diabetes of the young type 3 (MODY3) is a non-ketotic form of diabetes associated with poor insulin secretion. Over the past years, several studies have reported the association of missense mutations in the Hepatocyte Nuclear Factor 1 Alpha (HNF1A) with MODY3. Missense mutations in the POU homeodomain (POUH) of HNF1A hinder binding to the DNA, thereby leading to a dysfunctional protein. Missense mutations of the HNF1A were retrieved from public databases and subjected to a three-step computational mutational analysis to identify the underlying mechanism...
2017: PloS One
https://www.readbyqxmd.com/read/28395978/the-spectrum-of-hnf1a-gene-mutations-in-patients-with-mody-3-phenotype-and-identification-of-three-novel-germline-mutations-in-turkish-population
#13
Emin Karaca, Huseyin Onay, Sevki Cetinkalp, Ayca Aykut, Damla Göksen, Samim Ozen, Tahir Atik, Sukran Darcan, Ismihan Merve Tekin, Ferda Ozkınay
BACKGROUND: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes mellitus characterized by autosomal dominant inheritance, early age of onset, and pancreatic beta cell dysfunction. Heterozygous mutations in several genes may cause MODY. METHODS: In the present study, we investigated the molecular spectrum of HNF1A (hepatocyte nuclear factor 1a) mutations, in the individuals referred to a reference center for molecular genetic analysis. Mutations screening was performed in a group of 136 unrelated patients (average age 17...
March 31, 2017: Diabetes & Metabolic Syndrome
https://www.readbyqxmd.com/read/28324025/clinical-and-genetic-features-of-patients-with-type-2-diabetes-and-renal-glycosuria
#14
Siqian Gong, Jiandong Guo, Xueyao Han, Meng Li, Lingli Zhou, Xiaoling Cai, Yu Zhu, Yingying Luo, Simin Zhang, Xianghai Zhou, Yumin Ma, Linong Ji
Context: A sodium glucose cotransporter 2 (SGLT2) inhibitor, which increases urinary glucose excretion, was reported to decrease blood glucose levels and deaths among patients with type 2 diabetes mellitus (T2DM) and established cardiovascular disease. SLC5A2 and HNF1A mutations are associated with renal glycosuria, but their contributions to renal glycosuria in patients with T2DM are not well understood. Objective: To assess the clinical features of patients with T2DM and renal glycosuria and those with T2DM and low urinary glucose excretion (LUGE) and identify variants in the exons of SLC5A2 and HNF1A in patients with renal glycosuria and T2DM...
May 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323911/monogenic-diabetes-accounts-for-6-3-of-cases-referred-to-15-italian-pediatric-diabetes-centers-during-2007-to-2012
#15
Maurizio Delvecchio, Enza Mozzillo, Giuseppina Salzano, Dario Iafusco, Giulio Frontino, Patrizia I Patera, Ivana Rabbone, Valentino Cherubini, Valeria Grasso, Nadia Tinto, Sabrina Giglio, Giovanna Contreas, Rosa Di Paola, Alessandro Salina, Vittoria Cauvin, Stefano Tumini, Giuseppe d'Annunzio, Lorenzo Iughetti, Vilma Mantovani, Giulio Maltoni, Sonia Toni, Marco Marigliano, Fabrizio Barbetti
Context: An etiologic diagnosis of diabetes can affect the therapeutic strategy and prognosis of chronic complications. Objective: The aim of the present study was to establish the relative percentage of different diabetes subtypes in patients attending Italian pediatric diabetes centers and the influence of an etiologic diagnosis on therapy. Design, Setting, and Patients: This was a retrospective study. The clinical records of 3781 consecutive patients (age, 0 to 18 years) referred to 15 pediatric diabetes clinics with a diagnosis of diabetes or impaired fasting glucose from January 1, 2007 to December 31, 2012 were examined...
June 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28299548/association-study-of-hnf1a-in-women-with-polycystic-ovary-syndrome
#16
Yue Lv, Changfa Sun, Ye Tian, Shigang Zhao, Yuehong Bian, Lei Cheng, Mei Sun, Hong-Bin Liu, Han Zhao, Jinlong Ma
PURPOSE: This study aims to ascertain whether an association exists between hepatocyte nuclear factor 1 alpha (HNF1A) and polycystic ovary syndrome (PCOS). METHODS: One thousand one hundred thirty-eight PCOS and 1125 healthy control Han Chinese women were recruited from Reproductive Hospital Affiliated to Shandong University. Serum hormone, blood lipid level, and genomic DNA were obtained from the peripheral blood for this research. Two single-nucleotide polymorphisms (SNPs)-rs2393791 and rs7305618-located in HNF1A were genotyped using the Sequenom MassARRAY system...
May 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28292020/long-non-coding-rna-hnf1a-as1-promotes-hepatocellular-carcinoma-cell-proliferation-by-repressing-nkd1-and-p21-expression
#17
Cong Wang, Lin Mou, Hai-Xia Chai, Feng Wang, Yun-Zhi Yin, Xiao-Yu Zhang
Hepatocellular carcinoma (HCC) is one of the most common cancers worldwide. Recent evidences have demonstrated that long non-coding RNAs (lncRNAs) act as key regulators of tumor development and progression including HCC. In the study, we showed that the expression level of HNF1A-AS1 was up-regulated in HCC cell lines. Furthermore, CCK-8 cell proliferation assays and cell cycle analysis showed that HNF1A-AS1 over-expression facilitated HCC cell proliferation by promoting the cell proliferation and S-phase progression, whereas HNF1A-AS1 knockdown had the opposite effect...
May 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
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
#18
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...
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
#19
L S Santana, L A Caetano, A D Costa-Riquetto, E P S Quedas, M Nery, P Collett-Solberg, M C S Boguszewski, M F Vendramini, L G Crisostomo, F O Floh, Z I Zarabia, S K Kohara, L Guastapaglia, C G B Passone, L E Sewaybricker, A A L Jorge, M G 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
#20
REVIEW
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...
March 2017: Seminars in Diagnostic Pathology
keyword
keyword
115159
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"