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Kotalova R, Dusatkova P, Cinek O, Dusatkova L, Dedic T, Seeman T, Lebl J, Pruhova S. Hepatic phenotypes of |
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URL: | https://www.wjgnet.com/1007-9327/full/v21/i8/2550.htm |
Number | Citing Articles |
1 |
Pallavi Hegde, Annette Meldon, Lesley Lamen, Dushyant Sharma, Dhanya Kalathil. An interesting unfolding of the diagnosis of hepatocyte nuclear factor‐1 beta (HNF1β) monogenic diabetes. Practical Diabetes 2017; 34(9): 320 doi: 10.1002/pdi.2145
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2 |
E. F. Andreeva, N. D. Savenkova. Clinical and genetic features of glomerulocystic kidney in childhood. Nephrology (Saint-Petersburg) 2020; 24(3): 54 doi: 10.36485/1561-6274-2020-24-3-54-63
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3 |
Nicholas Smith, Jennifer Borowsky, James A. Thomas. Expanding the Diagnostic Toolkit in Chronic Cholestasis. Gastroenterology 2024; doi: 10.1053/j.gastro.2024.08.005
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4 |
Giovanni Vitale, Alessandro Mattiaccio, Amalia Conti, Laura Turco, Marco Seri, Fabio Piscaglia, Maria Cristina Morelli. Genetics in Familial Intrahepatic Cholestasis: Clinical Patterns and Development of Liver and Biliary Cancers: A Review of the Literature. Cancers 2022; 14(14): 3421 doi: 10.3390/cancers14143421
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5 |
Jody A. Weckwerth, Amanda R. Dahl, Siobhan T. Pittock, Seema Kumar, Charles B. Rosen, Rayna M. Grothe, Katryn N. Furuya. Liver Transplantation and Development of Diabetes in an Adolescent Male With HNF1B Disease. JPGN Reports 2021; 2(3): e085 doi: 10.1097/PG9.0000000000000085
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6 |
Jacobien C. Verhave, Anneke P. Bech, Jack F.M. Wetzels, Tom Nijenhuis. Hepatocyte Nuclear Factor 1β–Associated Kidney Disease. Journal of the American Society of Nephrology 2016; 27(2): 345 doi: 10.1681/ASN.2015050544
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7 |
Yongqin Ye, Vincent Chi Hang Lui, Paul Kwong Hang Tam. Pathogenesis of Choledochal Cyst: Insights from Genomics and Transcriptomics. Genes 2022; 13(6): 1030 doi: 10.3390/genes13061030
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8 |
Cécile de Leusse, André Maues De Paula, Audrey Aschero, Chistelle Parache, Geraldine Hery, Mathilde Cailliez, Chantal Missirian, Alexandre Fabre. Hepatocarcinoma and Cholestasis Associated to Germline Hemizygous Deletion of Gene HNF1B. Journal of Pediatric Gastroenterology and Nutrition 2019; 68(5) doi: 10.1097/MPG.0000000000002015
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9 |
Antonella Marucci, Irene Rutigliano, Grazia Fini, Serena Pezzilli, Claudia Menzaghi, Rosa Di Paola, Vincenzo Trischitta. Role of Actionable Genes in Pursuing a True Approach of Precision Medicine in Monogenic Diabetes. Genes 2022; 13(1): 117 doi: 10.3390/genes13010117
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10 |
Radana Kotalova, Petra Dusatkova, Jana Drabova, Lenka Elblova, Tomas Dedic, Ondrej Cinek, Jan Lebl, Stepanka Pruhova. Choledochal Cyst with 17q12 Chromosomal Duplication. Annals of Human Genetics 2018; 82(1): 48 doi: 10.1111/ahg.12221
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11 |
Elena Carrillo, Amparo Lomas, Pedro J Pinés, Cristina Lamas. Long-lasting response to oral therapy in a young male with monogenic diabetes as part of HNF1B-related disease. Endocrinology, Diabetes & Metabolism Case Reports 2017; 2017 doi: 10.1530/EDM-17-0052
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12 |
Jarno L. T. Kettunen, Helka Parviainen, Päivi J. Miettinen, Martti Färkkilä, Marjo Tamminen, Pia Salonen, Eila Lantto, Tiinamaija Tuomi. Biliary Anomalies in Patients With HNF1B Diabetes. The Journal of Clinical Endocrinology & Metabolism 2017; 102(6): 2075 doi: 10.1210/jc.2017-00061
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13 |
Natascha Roehlen, Hanna Hilger, Friedrich Stock, Birgitta Gläser, Johannes Guhl, Annette Schmitt-Graeff, Jochen Seufert, Katharina Laubner. 17q12 Deletion Syndrome as a Rare Cause for Diabetes Mellitus Type MODY5. The Journal of Clinical Endocrinology & Metabolism 2018; 103(10): 3601 doi: 10.1210/jc.2018-00955
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14 |
S. V. Papizh, O. R. Piruzieva. THE NUCLEAR FACTOR OF HEPATOCYTES 1β (HNF1β)–ASSOCIATED DISEASE. CLINIC, DIAGNOSTIC, TREATMENT (LITERATURE REVIEW AND CLINICAL OBSERVATION). Nephrology (Saint-Petersburg) 2019; 23(2): 100 doi: 10.24884/1561-6274-2019-23-2-100-108
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15 |
Alessandro Gambella, Silvia Kalantari, Massimiliano Cadamuro, Marco Quaglia, Maurizio Delvecchio, Luca Fabris, Michele Pinon. The Landscape of HNF1B Deficiency: A Syndrome Not Yet Fully Explored. Cells 2023; 12(2): 307 doi: 10.3390/cells12020307
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16 |
Tomoko Kato, Daisuke Tanaka, Seiji Muro, Byambatseren Jambaljav, Eisaku Mori, Shin Yonemitsu, Shogo Oki, Nobuya Inagaki. A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5). Internal Medicine 2018; 57(14): 2035 doi: 10.2169/internalmedicine.9692-17
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17 |
MM Sira, AM Sira, IA Elhenawy, FO Khalil. Prevalence of Serological Markers of TORCH Infections in Biliary Atresia and Other Neonatal Cholestatic Disorders. Open Journal of Pediatrics and Child Health 2016; 2(1): 013 doi: 10.17352/2640-7612.000010
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18 |
Michele Pinon, Michele Carboni, Davide Colavito, Fabio Cisarò, Licia Peruzzi, Antonio Pizzol, Giulia Calosso, Ezio David, Pier Luigi Calvo. Not only Alagille syndrome. Syndromic paucity of interlobular bile ducts secondary to HNF1β deficiency: a case report and literature review. Italian Journal of Pediatrics 2019; 45(1) doi: 10.1186/s13052-019-0617-y
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19 |
Sudiksha Veerareddy, Saigopala Reddy, Mauricio Barreto, Niharika Vedherey, Vani V. Gopalareddy. Increased Liver Enzymes: An Under-Recognized Finding in Maturity-Onset Diabetes of the Young Type 5 (MODY 5). ACG Case Reports Journal 2023; 10(10): e01150 doi: 10.14309/crj.0000000000001150
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20 |
Carlo Caffarelli, Francesca Santamaria, Virginia Mirra, Ermanno Bacchini, Angelica Santoro, Sergio Bernasconi, Giovanni Corsello. Advances in paediatrics in 2019: current practices and challenges in allergy, endocrinology, gastroenterology, public health, neonatology, nutrition, nephrology, neurology, respiratory diseases and rheumatic diseases. Italian Journal of Pediatrics 2020; 46(1) doi: 10.1186/s13052-020-00853-0
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21 |
Laura Sanchez Caballero, Vyron Gorgogietas, Maria Nicol Arroyo, Mariana Igoillo-Esteve. Pancreatic ß-Cell Biology in Health and Disease. International Review of Cell and Molecular Biology 2021; 359: 139 doi: 10.1016/bs.ircmb.2021.02.005
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22 |
Jing Chen, Zi-Cheng Zhou, Yang Yan, Shu-Zhen Wu, Tao Ma, Han Xuan, Ruo-Chun Wang, Chi-Yu Gu, Yi-Heng Liu, Qing-Qing Liu, Si-Jia Ge, Wei Huang, Cui-Hua Lu. Characterization of aggrephagy-related genes to predict the progression of liver fibrosis from multi-omics profiles. Biomedical Technology 2024; 5: 46 doi: 10.1016/j.bmt.2023.04.001
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23 |
Muriel Girard, Ganna Panasyuk. Genetics in biliary atresia. Current Opinion in Gastroenterology 2019; 35(2): 73 doi: 10.1097/MOG.0000000000000509
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24 |
Ji Yoon Han, Jin Gwack, Tae Yun Kim, Joonhong Park. A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B. International Journal of Molecular Sciences 2024; 25(18): 9823 doi: 10.3390/ijms25189823
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25 |
Karen Van Hoeve, Djalila Mekahli, Eva Morava, Elena Levtchenko, Peter Witters. Liver involvement in kidney disease and vice versa. Pediatric Nephrology 2018; 33(6): 957 doi: 10.1007/s00467-017-3715-3
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26 |
R. El‐Khairi, L. Vallier. The role of hepatocyte nuclear factor 1β in disease and development. Diabetes, Obesity and Metabolism 2016; 18(S1): 23 doi: 10.1111/dom.12715
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27 |
Hümeyra Yaşar Köstek, Fatma Özgüç Çömlek, Hakan Gürkan, Emine Neşe Özkayın, Filiz Tütüncüler Kökenli. A Case of Diabetes Mellitus Type MODY5 as a Feature of 17q12 Deletion Syndrome. Journal of Clinical Research in Pediatric Endocrinology 2024; 16(2): 205 doi: 10.4274/jcrpe.galenos.2022.2022-3-2
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28 |
Dominick J. Hellen, Saul J. Karpen. Genetic Contributions to Biliary Atresia: A Developmental Cholangiopathy. Seminars in Liver Disease 2023; 43(03): 323 doi: 10.1055/a-2153-8927
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29 |
Ramakrishnan Rajagopalan, Ellen A. Tsai, Christopher M. Grochowski, Susan M. Kelly, Kathleen M. Loomes, Nancy B. Spinner, Marcella Devoto. Exome Sequencing in Individuals with Isolated Biliary Atresia. Scientific Reports 2020; 10(1) doi: 10.1038/s41598-020-59379-4
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30 |
Panpan Sun, Manhuan Xiao, Huadong Chen, Zhihai Zhong, Hong Jiang, Xuyang Feng, Zhenhua Luo. A joint transcriptional regulatory network and protein activity inference analysis identifies clinically associated master regulators for biliary atresia. Frontiers in Pediatrics 2022; 10 doi: 10.3389/fped.2022.1050326
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31 |
Usama F. Shaalan, Noha L. Ibrahim, Nermine A. Ehsan, Mervat M. Sultan, Ghada M. Naser, Mohamed O. Abd El-Fatah. Reduced Immunohistochemical Expression of Hnf1β and FoxA2 in Liver Tissue Can Discriminate Between Biliary Atresia and Other Causes of Neonatal Cholestasis. Applied Immunohistochemistry & Molecular Morphology 2019; 27(4): e32 doi: 10.1097/PAI.0000000000000638
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32 |
Reda Sanad Arafa, Omima M. Abdel Haie, Dina Shehata El-Azab, Amira Mohamed Abdel-Rahman, Mostafa M. Sira. Significant hepatic expression of IL-2 and IL-8 in biliary atresia compared with other neonatal cholestatic disorders. Cytokine 2016; 79: 59 doi: 10.1016/j.cyto.2015.12.023
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33 |
Stuart Cannon, Rhian Clissold, Kittiya Sukcharoen, Marcus Tuke, Gareth Hawkes, Robin N Beaumont, Andrew R Wood, Mark Gilchrist, Andrew T Hattersley, Richard A Oram, Kashyap Patel, Caroline Wright, Michael N Weedon. Recurrent 17q12 microduplications contribute to renal disease but not diabetes. Journal of Medical Genetics 2023; 60(5): 491 doi: 10.1136/jmg-2022-108615
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34 |
Jan Gehlen, Ann-Sophie Giel, Ricarda Köllges, Stephan L. Haas, Rong Zhang, Jiri Trcka, Ayse Ö. Sungur, Florian Renziehausen, Dorothea Bornholdt, Daphne Jung, Paul D. Hoyer, Agneta Nordenskjöld, Dick Tibboel, John Vlot, Manon C.W. Spaander, Robert Smigiel, Dariusz Patkowski, Nel Roeleveld, Iris ALM. van Rooij, Ivo de Blaauw, Alice Hölscher, Marcus Pauly, Andreas Leutner, Joerg Fuchs, Joel Niethammer, Maria-Theodora Melissari, Ekkehart Jenetzky, Nadine Zwink, Holger Thiele, Alina Christine Hilger, Timo Hess, Jessica Trautmann, Matthias Marks, Martin Baumgarten, Gaby Bläss, Mikael Landén, Bengt Fundin, Cynthia M. Bulik, Tracie Pennimpede, Michael Ludwig, Kerstin U. Ludwig, Elisabeth Mangold, Stefanie Heilmann-Heimbach, Susanne Moebus, Bernhard G. Herrmann, Kristina Alsabeah, Carmen M. Burgos, Helene E. Lilja, Sahar Azodi, Pernilla Stenström, Einar Arnbjörnsson, Barbora Frybova, Dariusz M. Lebensztejn, Wojciech Debek, Elwira Kolodziejczyk, Katarzyna Kozera, Jaroslaw Kierkus, Piotr Kaliciński, Marek Stefanowicz, Anna Socha-Banasiak, Michal Kolejwa, Anna Piaseczna-Piotrowska, Elzbieta Czkwianianc, Markus M. Nöthen, Phillip Grote, Michal Rygl, Konrad Reinshagen, Nicole Spychalski, Barbara Ludwikowski, Jochen Hubertus, Andreas Heydweiller, Benno Ure, Oliver J. Muensterer, Ophelia Aubert, Jan-Hendrik Gosemann, Martin Lacher, Petra Degenhardt, Thomas M. Boemers, Anna Mokrowiecka, Ewa Małecka-Panas, Markus Wöhr, Michael Knapp, Guido Seitz, Annelies de Klein, Grzegorz Oracz, Erwin Brosens, Heiko Reutter, Johannes Schumacher. First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B. Human Genetics and Genomics Advances 2022; 3(2): 100093 doi: 10.1016/j.xhgg.2022.100093
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