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https://www.readbyqxmd.com/read/28866868/the-lncrna-hnf1a-as1-is-a-negative-prognostic-factor-and-promotes-tumorigenesis-in-osteosarcoma
#1
Lijun Cai, Jinhan Lv, Yinquan Zhang, Junhong Li, Yinong Wang, Huilin Yang
Recent studies have revealed that long noncoding RNA HNF1A-antisense 1 (HNF1A-AS1) plays an important role in the development of several human malignancy entities. However, the expression and function of HNF1A-AS1 in the carcinogenesis and development of osteosarcoma remains unknown. In this study, we detected the HNF1A-AS1 levels in human osteosarcoma tissues and cell lines by quantitative real-time polymerase chain reaction (qRT-PCR), and investigated its role in osteosarcoma by using in vitro assays. Our study showed that HNF1A-AS1 expression was significantly up-regulated in human osteosarcoma tissues and cell lines compared with their normal counterparts, and its expression level was positively correlated with the distance metastasis (P = 0...
September 2, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/28865121/hnf1a-casc2-regulates-pancreatic-cancer-cell-proliferation-through-pten-akt-signaling
#2
Yaqun Yu, Shuai Liang, Yingqiong Zhou, Shuqun Li, Yixiong Li, Weijia Liao
Pancreatic cancer (PC) has a high mortality rate in all cancers worldwide. According to recent studies, long non-coding RNA-CASC2 is involved in the development and progression of many malignant tumors; in the present study, we demonstrated that lncRNA-CASC2 was specifically downregulated in PC tissues and cell lines, and a lower CASC2 expression in PC was related with a poorer prognosis. CASC2 suppressed PC cell proliferation. Hepatocyte nuclear factor 1 alpha (HNF1A) is a transcription factor known to regulate pancreatic differentiation and maintain the homeostasis of endocrine pancreas...
September 2, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28862987/mody-in-ukraine-genes-clinical-phenotypes-and-treatment
#3
Evgenia Globa, Nataliya Zelinska, Lenka Elblova, Petra Dusatkova, Ondrej Cinek, Jan Lebl, Kevin Colclough, Sian Ellard, Stepanka Pruhova
BACKGROUND: Maturity-onset diabetes of the young (MODY) has not been previously studied in Ukraine. We investigated the genetic etiology in a selected cohort of patients with diabetes diagnosed before 18 years of age, and in their family members. METHODS: Genetic testing of the most prevalent MODY genes (GCK, HNF1A, HNF4A, HNF1B and INS) was undertaken for 36 families (39 affected individuals) by Sanger or targeted next generation sequencing. RESULTS: A genetic diagnosis of MODY was made in 15/39 affected individuals from 12/36 families (33%)...
September 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28855921/diagnosis-and-treatment-of-hyperinsulinaemic-hypoglycaemia-and-its-implications-for-paediatric-endocrinology
#4
REVIEW
Huseyin Demirbilek, Sofia A Rahman, Gonul Gulal Buyukyilmaz, Khalid Hussain
Glucose homeostasis requires appropriate and synchronous coordination of metabolic events and hormonal activities to keep plasma glucose concentrations in a narrow range of 3.5-5.5 mmol/L. Insulin, the only glucose lowering hormone secreted from pancreatic β-cells, plays the key role in glucose homeostasis. Insulin release from pancreatic β-cells is mainly regulated by intracellular ATP-generating metabolic pathways. Hyperinsulinaemic hypoglycaemia (HH), the most common cause of severe and persistent hypoglycaemia in neonates and children, is the inappropriate secretion of insulin which occurs despite low plasma glucose levels leading to severe and persistent hypoketotic hypoglycaemia...
2017: International Journal of Pediatric Endocrinology
https://www.readbyqxmd.com/read/28834135/the-pharmacogenetics-of-metformin-in-women-with-pcos-a-randomized-trial
#5
Andreas J T Pedersen, Tore Bjerregaard Stage, Dorte Glintborg, Marianne Andersen, Mette Marie Hougaard Christensen
Polycystic ovary syndrome (PCOS) is the most common endocrine disorder affecting women of reproductive age. PCOS is associated with obesity, dyslipidaemia and insulin resistance, and metformin treatment may improve such metabolic features. The effect of genetic variants in key metformin transporters, their transcriptional regulators or in metformin target genes on metformin response in women with PCOS is unclear. Associations between pharmacodynamic responses to metformin (changes in weight, lipid profile, insulin sensitivity evaluated by oral glucose tolerance testing) and polymorphisms in OCT1 (rs12208357 and rs72552763), HNF1A (rs1169288 and rs2464196), MATE1 (rs2289669 and rs2252281), MATE2-K (rs12943590) and ATM (rs11212617) were studied in 40 women with PCOS randomized to 12 months of treatment with metformin 1000 mg twice daily ± oral contraceptive pills (150 mg desogestrel + 30 μg ethinylestradiol)...
August 21, 2017: Basic & Clinical Pharmacology & Toxicology
https://www.readbyqxmd.com/read/28791380/knockdown-of-lncrna-hnf1a-as1-inhibits-oncogenic-phenotypes-in-colorectal-carcinoma
#6
Wenyi Zhu, Peipei Zhuang, Wen Song, Shiyu Duan, Qiong Xu, Man Peng, Jun Zhou
Long non-coding RNAs (lncRNAs) have been demonstrated to serve important roles in the development and progression of cancer. Recently HNF1A antisense RNA 1 (HNF1A‑AS1), a lncRNA, has been reported as exhibiting a potential oncogenic role in the development of many types of cancer. However, the expression and the role of HNF1A‑AS1 in colorectal carcinoma (CRC) remains unclear. In the present study, the role of HNF1A‑AS1 in CRC was examined for the first time and its correlation with CRC cell biological behaviors was analyzed...
October 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28766492/mody3-renal-cysts-and-dandy-walker-variants-with-a-microdeletion-spanning-the-hnf1a-gene
#7
Hiro Matsukura, Mariko Nagamori, Kazushi Miya, Tohru Yorifuji
Heterozygous hepatocyte nuclear factor-1-α gene (<italic>HNF1A</italic>) mutations are the most common cause of maturity-onset diabetes of the young (MODY), but they rarely involve extrahepatic manifestations. Renal cysts and diabetes syndrome can be caused by <italic>HNF1B</italic> mutations. No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutations might be responsible for renal malformations. In a Japanese girl with glycosuria, developmental delay, mental retardation, renal cysts, and DWV, the <italic>HNF1B</italic> gene had no mutations...
September 2017: Clinical Nephrology
https://www.readbyqxmd.com/read/28712822/association-study-of-hnf1a-polymorphisms-with-metabolic-syndrome-in-the-moroccan-population
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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...
August 2017: Endocrine
https://www.readbyqxmd.com/read/28591938/variants-in-mody-genes-associated-with-maternal-lipids-profiles-in-second-trimester-of-pregnancy
#14
Xiaojing Wang, Wei Li, Liangkun Ma, Fan Ping, Juntao Liu, Xueyan Wu, Jiangfeng Mao, Xi Wang, Min Nie
BACKGROUND: Dyslipidemia during pregnancy increases the risk of complications of pregnancy. Lipid profiles have a strong genetic determinant and numerous susceptibility loci have been identified. However, very few studies have focused on the association of lipid-related loci and maternal serum lipids during pregnancy. For the first time, we investigated the association of common variants in three maturity onset diabetes of the young (MODY) genes (HNF1A, HNF4A and HNF1B) with serum lipid concentrations and glucose metabolism related quantitative traits in the second trimester of pregnancy...
June 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
#15
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
#16
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, outside pregnancy, is sulfonylureas, 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
#17
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
#18
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
#19
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
#20
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
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