[Abdul-Rasoul M, Habib H, Al-Khouly M. ‘The honeymoon phase’ in children with type 1 diabetes mellitus: Frequency, duration, and influential factors. Pediatr Diabetes 7, 101–107, 2006.10.1111/j.1399-543X.2006.00155.x]Search in Google Scholar
[Albert MA, Danielson E, Rifai N, Ridker PM. Effect of statin therapy on C-reactive protein levels: The pravastatin inflammation/CRP evaluation (PRINCE): A randomized trial and cohort study. J Am Med Assoc 286, 64–70, 2001.10.1001/jama.286.1.64]Search in Google Scholar
[Armendariz AD, Krauss RM. Hepatic nuclear factor 1-α: Inflammation, genetics, and atherosclerosis. Curr Opin Lipidol 20, 106–111, 2009.10.1097/MOL.0b013e3283295ee9]Search in Google Scholar
[Awa WL, Thon A, Raile K, Grulich-Henn J, Meissner T, Schober E, Holl RW. Genetic and clinical characteristics of patients with HNF1A gene variations from the German-Austrian DPV database. Eur J Endocrinol 164, 513–520, 2011.10.1530/EJE-10-0842]Search in Google Scholar
[Bach I, Galcheva-Gargova Z, Mattei MG, Simon-Chazottes D, Guenet JL, Cereghini S, Yaniv M. Cloning of human hepatic nuclear factor 1 (HNF1) and chromosomal localization of its gene in man and mouse. Genomics 8, 155–164, 1990.10.1016/0888-7543(90)90238-P]Search in Google Scholar
[Bacon S, Engelbrecht B, Schmid J, Pfeiffer S, Gallagher R, McCarthy A, Burke M, Concannon C, Prehn JH, Byrne MM. MicroRNA-224 is readily detectable in urine of individuals with diabetes mellitus and is a potential indicator of beta-cell demise. Genes (Basel) 6, 399–416, 2015.10.3390/genes6020399448867126110317]Search in Google Scholar
[Bacon S, Kyithar MP, Schmid J, Pozza AC, Handberg A, Byrne MM. Circulating CD36 is reduced in HNF1A-MODY carriers. PloS one 8, e74577, 2013.10.1371/journal.pone.0074577377193324069322]Search in Google Scholar
[Ban N, Yamada Y, Someya Y, Miyawaki K, Ihara Y, Hosokawa M, Toyokuni S, Tsuda K, Seino Y. Hepatocyte nuclear factor-1alpha recruits the transcriptional co-activator p300 on the GLUT2 gene promoter. Diabetes 51, 1409–1418, 2002.10.2337/diabetes.51.5.140911978637]Search in Google Scholar
[Baumhueter S, Mendel DB, Conley PB, Kuo CJ, Turk C, Graves MK, Edwards CA, Courtois G, Crabtree GR. HNF-1 shares three sequence motifs with the POU domain proteins and is identical to LF-B1 and APF. Genes Dev 4, 372–379, 1990.10.1101/gad.4.3.3721970973]Search in Google Scholar
[Bazalova Z, Rypackova B, Broz J, Brunerova L, Polak J, Rusavy Z, Treslova L, Andel M. Three novel mutations in MODY and its phenotype in three different Czech families. Diabetes Res Clin Pract 88, 132–138, 2010.10.1016/j.diabres.2010.01.00520132997]Search in Google Scholar
[Bellanne-Chantelot C, Carette C, Riveline JP, Valero R, Gautier JF, Larger E, Reznik Y, Ducluzeau PH, Sola A, Hartemann-Heurtier A, Lecomte P, Chaillous L, Laloi-Michelin M, Wilhem JM, Cuny P, Duron F, Guerci B, Jeandidier N, Mosnier-Pudar H, Assayag M, Dubois-Laforgue D, Velho G, Timsit J. The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3. Diabetes 57, 503–508, 2008.10.2337/db07-085918003757]Search in Google Scholar
[Bellanne-Chantelot C, Coste J, Ciangura C, Fonfrede M, Saint-Martin C, Bouche C, Sonnet E, Valero R, Levy DJ, Dubois-Laforgue D, Timsit J. High-sensitivity C-reactive protein does not improve the differential diagnosis of HNF1A-MODY and familial young-onset type 2 diabetes: A grey zone analysis. Diabetes Metab 42, 33–37, 2016.10.1016/j.diabet.2015.02.00125753245]Open DOISearch in Google Scholar
[Berg LP, Scopes DA, Alhaq A, Kakkar VV, Cooper DN. Disruption of a binding site for hepatocyte nuclear factor 1 in the protein C gene promoter is associated with hereditary thrombophilia. Hum Mol Genet 3, 2147–2152, 1994.10.1093/hmg/3.12.21477881411]Search in Google Scholar
[Bjorkhaug L, Sagen JV, Thorsby P, Sovik O, Molven A, Njolstad PR. Hepatocyte nuclear factor-1α gene mutations and diabetes in Norway. J Clin Endocrinol Metab 88, 920–931, 2003.10.1210/jc.2002-02094512574234]Search in Google Scholar
[Bluteau O, Jeannot E, Bioulac-Sage P, Marques JM, Blanc JF, Bui H, Beaudoin JC, Franco D, Balabaud C, LaurentPuig P, Zucman-Rossi J. Bi-allelic inactivation of TCF1 in hepatic adenomas. Nat Genet 32, 312–315, 2002.10.1038/ng100112355088]Search in Google Scholar
[Boj SF, Parrizas M, Maestro MA, Ferrer J. A transcription factor regulatory circuit in differentiated pancreatic cells. Proc Natl Acad Sci 98, 14481–14486, 2001.10.1073/pnas.2413493986470711717395]Search in Google Scholar
[Boj SF, Petrov D, Ferrer J. Epistasis of transcriptomes reveals synergism between transcriptional activators Hnf1α and Hnf4α. PLoS Genet 6, 5, 2010.10.1371/journal.pgen.1000970287774920523905]Search in Google Scholar
[Bonner C, Nyhan KC, Bacon S, Kyithar MP, Schmid J, Concannon CG, Bray IM, Stallings RL, Prehn JHM, Byrne MM. Identification of circulating microRNAs in HNF1A-MODY carriers. Diabetologia 56, 1743–1751, 2013.10.1007/s00125-013-2939-423674172]Search in Google Scholar
[Borowiec M, Antosik K, Fendler W, Deja G, Jarosz-Chobot P, Mysliwiec M, Zmyslowska A, Malecki M, Szadkowska A, Mlynarski W. Novel glucokinase mutations in patients with monogenic diabetes clinical outline of GCK-MD and potential for founder effect in Slavic population. Clin Genet 81, 278–283, 2012.10.1111/j.1399-0004.2011.01656.x2134886821348868]Open DOISearch in Google Scholar
[Borowiec M, Liew CW, Thompson R, Boonyasrisawat W, Hu J, Mlynarski WM, El Khattabi I, Kim SH, Marselli L, Rich SS, Krolewski AS, Bonner-Weir S, Sharma A, Sale M, Mychaleckyj JC, Kulkarni RN, Doria A. Mutations at the BLK locus linked to maturity onset diabetes of the young and beta-cell dysfunction. Proc Natl Acad Sci 106, 14460–14465, 2009.10.1073/pnas.0906474106273283319667185]Search in Google Scholar
[Brantjes H, Roose J, van De Wetering M, Clevers H. All Tcf HMG box transcription factors interact with Grouchorelated co-repressors. Nucleic Acids Res 29, 1410–1419, 2001.10.1093/nar/29.7.141011266540]Open DOISearch in Google Scholar
[Brial F, Lussier CR, Boudreau F. Loss of Hnf1a causes diabetes through enteroendocrine ghrelin upregulationin. Gastroenterology 144, S-34, 2013.10.1016/S0016-5085(13)60123-7]Search in Google Scholar
[Bulla G, Fournier RE. Genetic analysis of a transcriptional activation pathway by using hepatoma cell variants. Mol Cell Biol 14, 7086–7094, 1994.10.1128/MCB.14.11.7086]Open DOISearch in Google Scholar
[Byrne MM, Sturis J, Menzel S, Yamagata K, Fajans SS, Dronsfleld MJ, Bain SC, Hattersley AT, Velho G, Froguel P, Bell GI, Polonsky KS. Altered insulin secretory responses to glucose in diabetic and nondiabetic subjects with mutations in the diabetes susceptibility gene MODY3 on chromosome 12. Diabetes 45, 1503–1510, 1996.10.2337/diab.45.11.1503]Open DOISearch in Google Scholar
[Carbon S, Ireland A, Mungall CJ, Shu S, Marshall B, Lewis S, Hub A, Presence W, Group W. AmiGO: online access to ontology and annotation data. Bioinforma Appl NOTE 25, 288–289, 2009.10.1093/bioinformatics/btn615]Search in Google Scholar
[Chambers JC, Zhang W, Sehmi J, Li X, Wass MN, Van der Harst P, Holm H, Sanna S, Kavousi M, Baumeister SE, Coin LJ, Deng G, Gieger C, Heard-Costa NL, Hottenga JJ, Kuhnel B, Kumar V, Lagou V, Liang L, et al. Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. Nat Genet 43, 1131–1138, 2011.10.1038/ng.970]Open DOISearch in Google Scholar
[Chi YI, Frantz JD, Oh BC, Hansen L, Dhe-Paganon S, Shoelson SE. Diabetes mutations delineate an atypical POU domain in HNF-1α. Mol Cell 10, 1129–1137, 2002.10.1016/S1097-2765(02)00704-9]Search in Google Scholar
[Chi YI, Frantz JD, Oh BC, Hansen L, Dhe-Paganon S,Shoelson SE. Diabetes mutations delineate an atypical POU domain in HNF-1alpha. Mol Cell 10, 1129–1137, 2002.10.1016/S1097-2765(02)00704-9]Search in Google Scholar
[Chi YI. Homeodomain revisited: a lesson from disease-causing mutations. Hum Genet 116, 433–444, 2005.10.1007/s00439-004-1252-1157920415726414]Search in Google Scholar
[Chiu KC, Chuang LM, Ryu JM, Tsai GP, Saad MF. The I27L amino acid polymorphism of hepatic nuclear factor-1α is associated with insulin resistance. J Clin Endocrinol Metab 85, 2178–2183, 2000.10.1210/jc.85.6.2178]Search in Google Scholar
[Cleary M, Pendergrast PS, Herr W. Structural flexibility in transcription complex formation revealed by proteinDNA photocrosslinking. Proc Natl Acad Sci U S A 94, 8450–8455, 1997.10.1073/pnas.94.16.8450]Open DOISearch in Google Scholar
[Colclough K, Bellanne-Chantelot C, Saint-Martin C, Flanagan SE, Ellard S. Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia. Hum Mutat 34, 669–685, 2013.10.1002/humu.22279]Search in Google Scholar
[Corrales PJP, Lopez Garrido MP, Rodriguez SA, Rubio LL, Lopez Jimenez LM, Oliveira CL, Alfaro Martinez JJ, Lozano Garcia JJ, Lopez AH, Castillo RR, Martinez JE, Romero FB. Clinical differences between patients with MODY-3, MODY-2 and type 2 diabetes mellitus with I27L polymorphism in the HNF1α gene. Endocrinol Nut 57, 4–8, 2010.10.1016/S1575-0922(10)70002-4]Search in Google Scholar
[Costa RH, Kalinichenko VV, Holterman AXL, Wang X. Transcription factors in liver development, differentiation, and regeneration. Hepatology 38, 1331–1347, 2003.10.1053/jhep.2003.09034]Open DOISearch in Google Scholar
[Courtois G, Baumhueter S, Crabtree GR. Purified hepatocyte nuclear factor 1 interacts with a family of hepatocytespecific promoters. Proc Natl Acad Sci U S A 85, 7937–7941, 1988.10.1073/pnas.85.21.79372823282460858]Search in Google Scholar
[D’Angelo A, Bluteau O, Garcia-Gonzalez MA, Gresh L, Doyen A, Garbay S, Robine S, Pontoglio M. Hepatocyte nuclear factor 1 and control terminal differentiation and cell fate commitment in the gut epithelium. Development 137, 1573–1582, 2010.10.1242/dev.04442020388655]Search in Google Scholar
[Dalgleish R, Flicek P, Cunningham F, Astashyn A, Tully RE, Proctor G, Chen Y, McLaren WM, Larsson P, Vaughan BW, Beroud C, Dobson G, Lehvaslaiho H, Taschner PE, den Dunnen JT, Devereau A, Birney E, Brookes AJ, Maglott DR. Locus Reference Genomic sequences: an improved basis for describing human DNA variants. Genome Med 2, 24, 2010.10.1186/gm145287380220398331]Open DOISearch in Google Scholar
[De Vas MG, Kopp JL, Heliot C, Sander M, Cereghini S, Haumaitre C. Hnf1b controls pancreas morphogenesis and the generation of Ngn3+ endocrine progenitors. Development 142, 871–882, 2015.10.1242/dev.110759435298125715395]Search in Google Scholar
[Divine JK, Staloch LJ, Haveri H, Jacobsen CM, Wilson DB, Heikinheimo M, Simon TC. GATA-4, GATA-5, and GATA-6 activate the rat liver fatty acid binding protein gene in concert with HNF-1alpha. Am J Physiol Gastrointest Liver Physiol 287, G1086–G1099, 2004.10.1152/ajpgi.00421.200314715527]Search in Google Scholar
[Dohda T, Kaneoka H, Inayoshi Y, Kamihira M, Miyake K, Iijima S. Transcriptional coactivators CBP and p300 cooperatively enhance HNF-1alpha-mediated expression of the albumin gene in hepatocytes. J Biochem 136, 313–319, 2004.10.1093/jb/mvh12315598887]Search in Google Scholar
[Dukes ID, Sreenan S, Roe MW, Levisetti M, Zhou YP, Ostrega D, Bell GI, Pontoglio M, Yaniv M, Philipson L, Polonsky KS. Defective pancreatic beta-cell glycolytic signaling in hepatocyte nuclear factor-1alpha-deficient mice. J Biol Chem 273, 24457–24464, 1998.10.1074/jbc.273.38.24457]Search in Google Scholar
[Dusatkova P, Pruhova S, Sumnik Z, Kolouskova S, Obermannova B, Lebl J. HNF1A mutation presenting with fetal macrosomia and hypoglycemia in childhood prior to onset of overt diabetes. J Pediatr Endocr Met 24, 377–379, 2011.10.1515/jpem.2011.083]Search in Google Scholar
[Eastman Q, Grosschedl R. Regulation of LEF-1/TCF transcription factors by Wnt and other signals. Curr Opin Cell Biol 11, 233–240, 1999.10.1016/S0955-0674(99)80031-3]Open DOISearch in Google Scholar
[Edlund H. Transcribing pancreas. Diabetes 47, 1817–1823, 1998.10.2337/diabetes.47.12.18179836511]Open DOISearch in Google Scholar
[Eeckhoute J, Formstecher P, Laine B. Hepatocyte nuclear factor 4α enhances the hepatocyte nuclear factor 1α-mediated activation of transcription. Nucleic Acids Res 32, 2586–2593, 2004.10.1093/nar/gkh58141946915141028]Search in Google Scholar
[Eide S, Rder H, Johansson S, Midthjell K, Svik O, Njlstad PR, Molven A. Prevalence of HNF1A (MODY3) mutations in a Norwegian population (the HUNT2 Study). Diabet Med 25, 775–781, 2008.10.1111/j.1464-5491.2008.02459.x18513305]Search in Google Scholar
[Ellard S, Bellanne-Chantelot C, Hattersley AT. Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young. Diabetologia 51, 546–553, 2008.10.1007/s00125-008-0942-y18297260227036018297260]Open DOISearch in Google Scholar
[Ellard S, Colclough K. Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young. Hum Mutat 27, 854–869, 2006.10.1002/humu.2035716917892]Open DOISearch in Google Scholar
[Estrada K, Aukrust I, Bjorkhaug L, Burtt NP, Mercader JM, Garcia-Ortiz H, Huerta-Chagoya A, Moreno-Macias H, Walford G, Flannick J, Williams AL, Gomez-Vazquez MJ, Fernandez-Lopez JC, Martinez-Hernandez A, Centeno-Cruz F, Mendoza-Caamal E, Revilla-Monsalve C, Islas-Andrade S, Cordova EJ, et al. Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population. JAMA 311, 2305, 2014.10.1001/jama.2014.6511442585024915262]Search in Google Scholar
[Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O’Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart, II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D. Large-scale mapping of human protein-protein interactions by mass spectrometry. Mol Syst Biol 3, 89, 2007.10.1038/msb4100134184794817353931]Open DOISearch in Google Scholar
[Fagerberg L, Hallstrom BM, Oksvold P, Kampf C, Djureinovic D, Odeberg J, Habuka M, Tahmasebpoor S, Danielsson A, Edlund K, Asplund A, Sjostedt E, Lundberg E, Szigyarto CAK, Skogs M, Takanen JO, Berling H, Tegel H, Mulder J, et al. Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics. Mol Cell Proteomics 13, 397–406, 2014.10.1074/mcp.M113.03560024309898]Open DOISearch in Google Scholar
[Fahey ME, Bennett MJ, Mahon C, Jager S, Pache L, Kumar D, Shapiro A, Rao K, Chanda SK, Craik CS, Frankel AD, Krogan NJ. GPS-Prot: A web-based visualization platform for integrating host-pathogen interaction data. BMC Bioinformatics 12, 298, 2011.2177747510.1186/1471-2105-12-298]Search in Google Scholar
[Fajans S, Bell G, Polonsky K. Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. N Engl J Med 345, 971–980, 2001.10.1056/NEJMra002168]Search in Google Scholar
[Fernandez-Zapico ME, van Velkinburgh JC, Gutierrez-Aguilar R, Neve B, Froguel P, Urrutia R, Stein R. MODY7 gene, KLF11, is a novel p300-dependent regulator of Pdx-1 (MODY4) transcription in pancreatic islet beta cells. J Biol Chem 284, 36482–36490, 2009.10.1074/jbc.M109.028852]Search in Google Scholar
[Ferrer J. A genetic switch in pancreatic β-cells: implications for differentiation and haploinsufficiency. Diabetes 51, 2355–2362, 2002.10.2337/diabetes.51.8.235512145145]Open DOISearch in Google Scholar
[Fokkema IFAC, Taschner PEM, Schaafsma GCP, Celli J, Laros JFJ, den Dunnen JT. LOVD v.2.0: the next generation in gene variant databases. Hum Mutat 32, 557–563, 2011.10.1002/humu.21438]Search in Google Scholar
[Froguel P, Velho G. Molecular genetics of maturity-onset diabetes of the young. Trends Endocrinol Metab 10, 142–146, 1999.10.1016/S1043-2760(98)00134-9]Search in Google Scholar
[Funk WD, Wright WE. Cyclic amplification and selection of targets for multicomponent complexes: myogenin interacts with factors recognizing binding sites for basic helix-loop-helix, nuclear factor 1, myocyte-specific enhancer-binding factor 2, and COMP1 factor. Proc Natl Acad Sci U S A 89, 9484–9488, 1992.10.1073/pnas.89.20.9484501561329097]Search in Google Scholar
[Galan M, Garcia-Herrero CM, Azriel S, Gargallo M, Duran M, Gorgojo JJ, Andia VM, Navas MA. Differential effects of HNF-1α mutations associated with familial young-onset diabetes on target gene regulation. Mol Med 17, 256–265, 2011.10.2119/molmed.2010.00097306097421170474]Open DOISearch in Google Scholar
[Gaulton KJ, Ferreira T, Lee Y, Raimondo A, Magi R, Reschen ME, Mahajan A, Locke A, William Rayner N, Robertson N, Scott RA, Prokopenko I, Scott LJ, Green T, Sparso T, Thuillier D, Yengo L, Grallert H, Wahl S, et al. Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci. Nat Genet 47, 1415–1425, 2015.]Search in Google Scholar
[Geer LY, Marchler-Bauer A, Geer RC, Han L, He J, He S, Liu C, Shi W, Bryant SH. The NCBI BioSystems database. Nucleic Acids Res 38, 492–496, 2009.10.1093/nar/gkp858280889619854944]Search in Google Scholar
[Godart F, Bellanne-Chantelot C, Clauin S, Gragnoli C, Abderrahmani A, Blanche H, Boutin P, Chevre JC, Froguel P, Bailleul B. Identification of seven novel nucleotide variants in the hepatocyte nuclear factor-1α (TCF1) promoter region in MODY patients. Hum Mutat 15, 173–180, 2000.10.1002/(SICI)1098-1004(200002)15:2<173::AID-HUMU6>3.0.CO;2-W]Open DOISearch in Google Scholar
[Gragnoli C, Lindner T, Cockburn BN, Kaisaki PJ, Gragnoli F, Marozzi G, Bell GI. Maturity-onset diabetes of the young due to a mutation in the hepatocyte nuclear factor-4 alpha binding site in the promoter of the hepatocyte nuclear factor-1 alpha gene. Diabetes 46, 1648–1651, 1997.10.2337/diabetes.46.10.1648]Search in Google Scholar
[Grimm AA, Brace CS, Wang T, Stormo GD, Imai S. A nutrient-sensitive interaction between Sirt1 and HNF-1alpha regulates Crp expression. Aging Cell 10, 305–317, 2011.10.1111/j.1474-9726.2010.00667.x]Search in Google Scholar
[Harries LW, Brown JE, Gloyn AL. Species-specific differences in the expression of the HNF1A, HNF1B and HNF4A genes. PLoS One 4, 2009.10.1371/journal.pone.0007855]Search in Google Scholar
[Harries LW, Ellard S, Stride A, Morgan NG, Hattersley AT, Vaxillaire M, Tuomi T, Barbetti E, Njolstad PR, Hansen T, Costa A, Congret I, Pedersen O, Sovik O, Lorini R, Froguel P. Isomers of the TCF1 gene encoding hepatocyte nuclear factor-1 alpha show differential expression in the pancreas and define the relationship between mutation position and clinical phenotype in monogenic diabetes. Hum Mol Genet 15, 2216–2224, 2006.10.1093/hmg/ddl147]Open DOISearch in Google Scholar
[Hegele RA, Cao H, Harris SB, Hanley AJG, Zinman B. The hepatic nuclear factor-1α G319S variant is associated with early-onset Type 2 diabetes in Canadian Oji-Cree. J Clin Endocrinol Metab 84, 1077–1082, 1999.10.1210/jc.84.3.1077]Search in Google Scholar
[Hiraiwa H, Pan CJ, Lin B, Akiyama TE, Gonzalez FJ, Chou JY. A molecular link between the common phenotypes of Type 1 glycogen storage disease and HNF1α-null mice. J Biol Chem 276, 7963–7967, 2001.10.1074/jbc.M010523200]Search in Google Scholar
[Holmkvist J, Cervin C, Lyssenko V, Winckler W, Anevski D, Cilio C, Almgren P, Berglund G, Nilsson P, Tuomi T, Lindgren CM, Altshuler D, Groop L. Common variants in HNF-1 α and risk of type 2 diabetes. Diabetologia 49, 2882–2891, 2006.10.1007/s00125-006-0450-x]Search in Google Scholar
[Hoskins JW, Jia J, Flandez M, Parikh H, Xiao W, Collins I, Emmanuel MA, Ibrahim A, Powell J, Zhang L, Malats N, Bamlet WR, Petersen GM, Real FX, Amundadottir LT. Transcriptome analysis of pancreatic cancer reveals a tumor suppressor function for HNF1A. Carcinogenesis 35, 2670–2678, 2014.10.1093/carcin/bgu193]Search in Google Scholar
[Hua Q, Zhao M, Narayana N, Nakagawa SH, Jia W, Weiss MA. Diabetes-associated mutations in a beta -cell transcription factor destabilize an antiparallel ‘mini-zipper’ in a dimerization interface. Proc Natl Acad Sci 97, 1999–2004, 2000.10.1073/pnas.97.5.1999]Search in Google Scholar
[Ishigaki K, Namba H, Nakashima M, Nakayama T, Mitsutake N, Hayashi T, Maeda S, Ichinose M, Kanematsu T, Yamashita S. Aberrant localization of beta-catenin correlates with overexpression of its target gene in human papillary thyroid cancer. J Clin Endocrinol Metab 87, 3433–3440, 2002.10.1210/jcem.87.7.8648]Search in Google Scholar
[Ishii Y, Hansen AJ, Mackenzie PI. Octamer transcription factor-1 enhances hepatic nuclear factor-1alpha-mediated activation of the human UDP glucuronosyltransferase 2B7 promoter. Mol Pharmacol 57, 940–947, 2000.]Search in Google Scholar
[Jacquemin P, Lemaigre FP, Rousseau GG. The Onecut transcription factor HNF-6 (OC-1) is required for timely specification of the pancreas and acts upstream of Pdx-1 in the specification cascade. Dev Biol 258, 105–116, 2003.10.1016/S0012-1606(03)00115-5]Search in Google Scholar
[Jeannot E, Mellottee L, Bioulac-Sage P, Balabaud C, Scoazec JY, Van Nhieu JT, Bacq Y, Michalak S, Buob D, LaurentPuig P, Rusyn I, Zucman-Rossi J. Spectrum of HNF1A somatic mutations in hepatocellular adenoma differs from that in patients with MODY3 and suggests genotoxic damage. Diabetes 59, 1836–1844, 2010.10.2337/db09-1819288978620393147]Search in Google Scholar
[Kathiresan S, Willer CJ, Peloso GM, Demissie S, Musunuru K, Schadt EE, Kaplan L, Bennett D, Li Y, Tanaka T, Voight BF, Bonnycastle LL, Jackson AU, Crawford G, Surti A, Guiducci C, Burtt NP, Parish S, Clarke R, et al. Common variants at 30 loci contribute to polygenic dyslipidemia. Nat Genet 41, 56–65, 2009.10.1038/ng.291288167619060906]Search in Google Scholar
[Kherra S, Blouin JL, Santoni F, Schwitzgebel V. Precision medicine for monogenic diabetes: from a survey to the development of a next-generation diagnostic panel. Swiss Med Wkly 147, w14535, 2017.10.4414/smw.2017.1453529120028]Search in Google Scholar
[Klupa T, Warram JH, Antonellis A, Pezzolesi M, Nam M, Malecki MT, Doria A, Rich SS, Krolewski AS. Determinants of the development of diabetes (maturity-onset diabetes of the young-3) in carriers of HNF-1alpha mutations: evidence for parent-of-origin effect. Diabetes Care 25, 2292–2301, 2002.10.2337/diacare.25.12.229212453976]Open DOISearch in Google Scholar
[Koepsell H, Lips K, Volk C. Polyspecific organic cation transporters: structure, function, physiological roles, and biopharmaceutical implications. Pharm Res 24, 1227–1251, 2007.10.1007/s11095-007-9254-z1747395917473959]Open DOISearch in Google Scholar
[Kohler S, Vasilevsky NA, Engelstad M, Foster E, McMurry J, Ayme S, Baynam G, Bello SM, Boerkoel CF, Boycott KM, Brudno M, Buske OJ, Chinnery PF, Cipriani V, Connell LE, Dawkins HJS, DeMare LE, Devereau AD, de Vries BBA, et al. The human phenotype ontology in 2017.Nucleic Acids Res 45, D865–D876, 2017.10.1093/nar/gkw1039521053527899602]Open DOISearch in Google Scholar
[Kotlyar M, Pastrello C, Sheahan N, Jurisica I. Integrated interactions database: tissue-specific view of the human and model organism interactomes. Nucleic Acids Res 44, D536–D541, 2016.10.1093/nar/gkv1115470281126516188]Open DOISearch in Google Scholar
[Kritis AA, Ktistaki E, Barda D, Zannis VI, Talianidis L. An indirect negative autoregulatory mechanism involved in hepatocyte nuclear factor-1 gene expression. Nucleic Acids Res 21, 5882–5889, 1993.10.1093/nar/21.25.58823104698290348]Open DOISearch in Google Scholar
[Kuo CJ, Conley PB, Chen L, Sladek FM, Darnell JE, Crabtree GR. A transcriptional hierarchy involved in mammalian cell-type specification. Nature 355, 457–461, 1992.10.1038/355457a01734282]Search in Google Scholar
[Lau HH, Ng NHJ, Loo LSW, Jasmen JB, Teo AKK. The molecular functions of hepatocyte nuclear factors – In and beyond the liver. J Hepatol 68, 1033–1048, 2018.10.1016/j.jhep.2017.11.0262917524329175243]Open DOISearch in Google Scholar
[Lausen J, Thomas H, Lemm I, Bulman M, Borgschulze M, Lingott A, Hattersley AT, Ryffel GU. Naturally occurring mutations in the human HNF4alpha gene impair the function of the transcription factor to a varying degree. Nucleic Acids Res 28, 430–437, 2000.10.1093/nar/28.2.4301060664010251710606640]Open DOISearch in Google Scholar
[Lebenthal Y, Fisch Shvalb N, Gozlan Y, Tenenbaum A, Tenenbaum-Rakover Y, Vaillant E, Froguel P, Vaxillaire M, Gat-Yablonski G. The unique clinical spectrum of maturity onset diabetes of the young type 3. Diabetes Res Clin Pract 135, 18–22, 2018.10.1016/j.diabres.2017.10.02429107759]Search in Google Scholar
[Lee YH, Sauer B, Gonzalez FJ. Laron dwarfism and non-insulin-dependent diabetes mellitus in the Hnf-1alpha knockout mouse. Mol Cell Biol 18, 3059–3068, 1998.10.1128/MCB.18.5.30591106849566924]Open DOISearch in Google Scholar
[Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O’Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao F, Zou J, Pierce-Hoffman E, Berghout J, et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature 536, 285–291, 2016.10.1038/nature19057501820727535533]Search in Google Scholar
[Leu JI, Crissey MA, Leu JP, Ciliberto G, Taub R. Interleukin-6-induced STAT3 and AP-1 amplify hepatocyte nuclear factor 1-mediated transactivation of hepatic genes, an adaptive response to liver injury. Mol Cell Biol 21, 414–424, 2001.10.1128/MCB.21.2.414-424.20018658511134330]Search in Google Scholar
[Ley SH, Hegele RA, Connelly PW, Harris SB, Mamakeesick M, Cao H, Gittelsohn J, Retnakaran R, Zinman B, Hanley AJ. Assessing the association of the HNF1A G319S variant with C-reactive protein in Aboriginal Canadians: A population-based epidemiological study. Cardiovasc Diabetol 9, 1–6, 2010.10.1186/1475-2840-9-39292921920716378]Open DOISearch in Google Scholar
[Li J, Ning G, Duncan SA. Mammalian hepatocyte differentiation requires the transcription factor HNF-4alpha. Genes Dev 14, 464–474, 2000.10.1101/gad.14.4.464]Search in Google Scholar
[Lim S, Jin K, Friedman E. Mirk protein kinase is activated by MKK3 and functions as a transcriptional activator of HNF1alpha. J Biol Chem 277, 25040–25046, 2002.10.1074/jbc.M20325720011980910]Search in Google Scholar
[Luni C, Marth JD, Doyle FJ. Computational Modeling of Glucose Transport in Pancreatic β-Cells Identifies Metabolic Thresholds and Therapeutic Targets in Diabetes. PLoS One 7, e53130, 2012.10.1371/journal.pone.0053130353136623300881]Search in Google Scholar
[Luo Z, Li Y, Wang H, Fleming J, Li M, Kang Y, Zhang R, Li D. Hepatocyte nuclear factor 1A (HNF1A) as a possible tumor suppressor in pancreatic cancer. PLoS One 10, e0121082, 2015.10.1371/journal.pone.0121082436863525793983]Search in Google Scholar
[Lussier CR, Brial F, Roy SAB, Langlois MJ, Verdu EF, Rivard N, Perreault N, Boudreau F. Loss of hepatocyte-nuclearfactor-1α impacts on adult mouse intestinal epithelial cell growth and cell lineages differentiation. PLoS One 5, e12378, 2010.10.1371/journal.pone.0012378292753820808783]Search in Google Scholar
[MacArthur J, Bowler E, Cerezo M, Gil L, Hall P, Hastings E, Junkins H, McMahon A, Milano A, Morales J, Pendlington ZM, Welter D, Burdett T, Hindorff L, Flicek P, Cunningham F, Parkinson H. The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog). Nucleic Acids Res 45, D896–D901, 2017.10.1093/nar/gkw1133521059027899670]Open DOISearch in Google Scholar
[Magee TR, Cai Y, El-Houseini ME, Locker J, Wan YJ. Retinoic acid mediates down-regulation of the alpha-fetoprotein gene through decreased expression of hepatocyte nuclear factors. J Biol Chem 273, 30024–30032, 1998.10.1074/jbc.273.45.300249792724]Search in Google Scholar
[Majidi S, Fouts A, Pyle L, Chambers C, Armstrong T, Wang Z, Batish SD, Klingensmith G, Steck AK. Can biomarkers help target maturity-onset diabetes of the young genetic testing in antibody-negative diabetes? Diabetes Technol Ther 20, 106–112, 2018.2935543610.1089/dia.2017.0317611012029355436]Search in Google Scholar
[McDonald TJ, Colclough K, Brown R, Shields B, Shepherd M, Bingley P, Williams A, Hattersley AT, Ellard S. Islet autoantibodies can discriminate maturity-onset diabetes of the young (MODY) from Type1 diabetes. Diabet Med 28, 1028–1033, 2011a.10.1111/j.1464-5491.2011.03287.x21395678]Search in Google Scholar
[McDonald TJ, Ellard S. Maturity onset diabetes of the young: Identification and diagnosis. Ann Clin Biochem 50, 403–415, 2013.10.1177/00045632134834582387834923878349]Open DOISearch in Google Scholar
[McDonald TJ, McEneny J, Pearson ER, Thanabalasingham G, Szopa M, Shields BM, Ellard S, Owen KR, Malecki MT, Hattersley AT, Young IS. Lipoprotein composition in HNF1A-MODY: Differentiating between HNF1AMODY and Type 2 diabetes. Clin Chim Acta 413, 927–932, 2012.10.1016/j.cca.2012.02.00522360925]Search in Google Scholar
[McDonald TJ, Shields BM, Lawry J, Owen KR, Gloyn AL, Ellard S, Hattersley AT. High-sensitivity CRP discriminates HNF1A-MODY from other subtypes of diabetes. Diabetes Care 34, 1860–1862, 2011b.10.2337/dc11-0323314201721700917]Search in Google Scholar
[Mendel D, Crabtree G. Hnf-1, a member of a novel class of dimerizing homeodomain proteins. J Biol Chem 266, 677–680, 1991.10.1016/S0021-9258(17)35222-5]Search in Google Scholar
[Mendel DB, Hansen LP, Graves MK, Conley PB, Crabtree GR. HNF-1 alpha and HNF-1 beta (vHNF-1) share dimerization and homeo domains, but not activation domains, and form heterodimers in vitro. Genes Dev 5, 1042–1056, 1991.10.1101/gad.5.6.10422044952]Search in Google Scholar
[Mendel DB, Khavari PA, Conley PB, Graves MK, Hansen LP, Admon A, Crabtree GR. Characterization of a cofactor that regulates dimerization of a mammalian homeodomain protein. Science 254, 1762–1767, 1991.10.1126/science.17633251763325]Search in Google Scholar
[Miles RR, Crockett DK, Lim MS, Elenitoba-Johnson KS. Analysis of BCL6-interacting proteins by tandem mass spectrometry. Mol Cell Proteomics 4, 1898–1909, 2005.10.1074/mcp.M500112-MCP20016147992]Open DOISearch in Google Scholar
[Mitchelmore C, Troelsen JT, Spodsberg N, Sjostrom H, Noren O. Interaction between the homeodomain proteins Cdx2 and HNF1alpha mediates expression of the lactase-phlorizin hydrolase gene. Biochem J 346 Pt 2, 529–535, 2000.10.1042/bj3460529]Search in Google Scholar
[Miyamoto-Sato E, Fujimori S, Ishizaka M, Hirai N, Masuoka K, Saito R, Ozawa Y, Hino K, Washio T, Tomita M, Yamashita T, Oshikubo T, Akasaka H, Sugiyama J, Matsumoto Y, Yanagawa H. A comprehensive resource of interacting protein regions for refining human transcription factor networks. PLoS One 5, e9289, 2010.10.1371/journal.pone.0009289282753820195357]Search in Google Scholar
[Mrozinska S, Radkowski P, Gosiewski T, Szopa M, Bulanda M, Ludwig-Galezowska AH, Morawska I, Sroka-Oleksiak A, Matejko B, Kapusta P, Salamon D, Malecki MT, Wolkow P, Klupa T. Qualitative parameters of the colonic flora in patients with HNF1A-MODY are different from those observed in Type 2 diabetes mellitus. J Diabetes Res 2016, 1–9, 2016.10.1155/2016/3876764507866327807544]Search in Google Scholar
[Mughal SA, Park R, Nowak N, Gloyn AL, Karpe F, Matile H, Malecki MT, Mccarthy MI, Stoffel M, Owen KR. Apolipoprotein M can discriminate HNF1A-MODY from Type 1 diabetes. Diabet Med 30, 246–250, 2013.10.1111/dme.12066419353623157689]Search in Google Scholar
[Najmi LA, Aukrust I, Flannick J, Molnes J, Burtt N, Molven A, Groop L, Altshuler D, Johansson S, Bjorkhaug L, Njolstad PR. Functional investigations of HNF1A identify rare variants as risk factors for Type 2 diabetes in the general population. Diabetes 66, 335–346, 2017.10.2337/db16-046027899486586026327899486]Open DOISearch in Google Scholar
[Nakazato M, Murakami N, Date Y, Kojima M, Matsuo H, Kangawa K, Matsukura S. A role for ghrelin in the central regulation of feeding. Nature 409, 194–198, 2001.10.1038/3505158711196643]Search in Google Scholar
[Nammo T, Yamagata K, Tanaka T, Kodama T, Sladek FM, Fukui K, Katsube F, Sato Y, Miyagawa J, Shimomura I. Expression of HNF-4α (MODY1), HNF-1β (MODY5), and HNF-1α (MODY3) proteins in the developing mouse pancreas. Gene Expr Patterns 8, 96–106, 2008.10.1016/j.modgep.2007.09.00617996499]Search in Google Scholar
[Naqvi AAT, Hasan GM, Hassan MI. Investigating the role of transcription factors of pancreas development in pancreatic cancer. Pancreatology 18, 184–190, 2018.10.1016/j.pan.2017.12.01329289465]Open DOISearch in Google Scholar
[Narayana N, Hua QX, Weiss MA. The dimerization domain of HNF-1α: Structure and plasticity of an intertwined four-helix bundle with application to diabetes mellitus. J Mol Biol 310, 635–658, 2001.10.1006/jmbi.2001.478011439029]Search in Google Scholar
[Nowak N, Hohendorff J, Solecka I, Szopa M, Skupien J, Kiec-Wilk B, Mlynarski W, Malecki MT. Circulating ghrelin level is higher in HNF1A–MODY and GCK–MODY than in polygenic forms of diabetes mellitus. Endocrine 50, 643–649, 2015.10.1007/s12020-015-0627-5466270925987348]Search in Google Scholar
[Nowak N, Szopa M, Thanabalasingham G, McDonald TJ, Colclough K, Skupien J, James TJ, Kiec-Wilk B, Kozek E, Mlynarski W, Hattersley AT, Owen KR, Malecki MT. Cystatin C is not a good candidate biomarker for HNF1A-MODY. Acta Diabetol 50, 815–820, 2013.10.1007/s00592-012-0378-1389813122350134]Search in Google Scholar
[Nyunt O, Wu JY, McGown IN, Harris M, Huynh T, Leong GM, Cowley DM, Cotterill AM. Investigating maturity onset diabetes of the young. Clin Biochem Rev 30, 67–74, 2009.]Search in Google Scholar
[O’Brien VP, Bokelmann K, Ramirez J, Jobst K, Ratain MJ, Brockmoller J, Tzvetkov M. Hepatocyte nuclear factor 1 regulates the expression of the organic cation transporter 1 via binding to an evolutionary conserved region in intron 1 of the OCT1 gene. J Pharmacol Exp Ther 347, 181–192, 2013.10.1124/jpet.113.206359378141323922447]Search in Google Scholar
[O’Leary NA, Wright MW, Brister JR, Ciufo S, Haddad D, McVeigh R, Rajput B, Robbertse B, Smith-White B, AkoAdjei D, Astashyn A, Badretdin A, Bao Y, Blinkova O, Brover V, Chetvernin V, Choi J, Cox E, Ermolaeva O, et al. Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation. Nucleic Acids Res 44, D733–D745, 2016.10.1093/nar/gkv1189470284926553804]Open DOISearch in Google Scholar
[Odom DT, Zizlsperger H, Gordon DB, Bell GW, Rinaldi NJ, Murray HL, Volkert TL, Schreiber J, Rolfe PA, Gifford DK, Fraenkel E, Bell GI, Young RA. Control of pancreas and liver gene expression by HNF transcription factors. Science 303, 1378–1381, 2004.10.1126/science.1089769301262414988562]Search in Google Scholar
[Oram RA, Jones AG, Besser REJ, Knight BA, Shields BM, Brown RJ, Hattersley AT, McDonald TJ. The majority of patients with long-duration type 1 diabetes are insulin microsecretors and have functioning beta cells. Diabetologia 57, 187–191, 2014.10.1007/s00125-013-3067-x385552924121625]Search in Google Scholar
[Owen K, Thanabalasingham G, Juszczak A. Biomarkers for MODY subtypes [internet]. Diapedia 4104526113 rev. no. 29, 2014. Available from: https://doi.org/10.14496/dia.4104526113.2910.14496/dia.4104526113.29]Search in Google Scholar
[Owen KR, Thanabalasingham G, James TJ, Karpe F, Farmer AJ, McCarthy MI, Gloyn AL. Assessment of highsensitivity C-reactive protein levels as diagnostic discriminator of maturity-onset diabetes of the young due to HNF1A mutations. Diabetes Care 33, 1919–1924, 2010.10.2337/dc10-0288]Search in Google Scholar
[Parrizas M, Maestro MA, Boj SF, Paniagua A, Casamitjana R, Gomis R, Rivera F, Ferrer J. Hepatic nuclear factor 1-alpha directs nucleosomal hyperacetylation to its tissue-specific transcriptional targets. Mol Cell Biol 21, 3234–3243, 2001.10.1128/MCB.21.9.3234-3243.2001]Open DOISearch in Google Scholar
[Pavic T, Juszczak A, Pape Medvidovic E, Burrows C, Sekerija M, Bennett AJ, Cuca Knezevic J, Gloyn AL, Lauc G, McCarthy MI, Gornik O, Owen KR. Maturity onset diabetes of the young due to HNF1A variants in Croatia. Biochemia medica 28, 1–11, 2018.10.11613/BM.2018.020703]Open DOISearch in Google Scholar
[Pearson ER, Liddell WG, Shepherd M, Corrall RJ, Hattersley AT. Sensitivity to sulphonylureas in patients with hepatocyte nuclear factor-1alpha gene mutations: evidence for pharmacogenetics in diabetes. Diabet Med 17, 543–545, 2000.10.1046/j.1464-5491.2000.00305.x]Search in Google Scholar
[Pearson ER, Starkey BJ, Powell RJ, Gribble FM, Clark PM, Hattersley AT. Genetic cause of hyperglycaemia and response to treatment in diabetes. Lancet 362, 1275–1281, 2003.10.1016/S0140-6736(03)14571-0]Search in Google Scholar
[Pepys MB, Hirschfield GM. C-reactive protein: a critical update. J Clin Invest 111, 1805–1812, 2003.10.1172/JCI200318921]Search in Google Scholar
[Pierce BL, Ahsan H. Genome-wide ‘pleiotropy scan’ identifies HNF1A region as a novel pancreatic cancer susceptibility locus. Cancer Res 71, 4352–4358, 2011.10.1158/0008-5472.CAN-11-0124]Search in Google Scholar
[Plengvidhya N, Kooptiwut S, Songtawee N, Doi A, Furuta H, Nishi M, Nanjo K, Tantibhedhyangkul W, Boonyasrisawat W, Yenchitsomanus PT, Doria A, Banchuin N. PAX4 mutations in Thais with maturity onset diabetes of the young. J Clin Endocrinol Metab 92, 2821–2826, 2007.10.1210/jc.2006-192717426099]Open DOISearch in Google Scholar
[Pontoglio M, Barra J, Hadchouel M, Doyen A, Kress C, Bach JP, Babinet C, Yaniv M. Hepatocyte nuclear factor 1 inactivation results in hepatic dysfunction, phenylketonuria, and renal Fanconi syndrome. Cell 84, 575–585, 1996.10.1016/S0092-8674(00)81033-8]Search in Google Scholar
[Pontoglio M, Prie D, Cheret C, Doyen A, Leroy C, Froguel P, Velho G, Yaniv M, Friedlander G. HNF1α controls renal glucose reabsorption in mouse and man. EMBO Rep 1, 359–365, 2000.10.1093/embo-reports/kvd071108374511269503]Search in Google Scholar
[Pontoglio M, Sreenan S, Roe M, Pugh W, Ostrega D, Doyen A, Pick AJ, Baldwin A, Velho G, Froguel P, Levisetti M, Bonner-Weir S, Bell GI, Yaniv M, Polonsky KS. Defective insulin secretion in hepatocyte nuclear factor 1α-deficient mice. J Clin Invest 101, 2215–2222, 1998.10.1172/JCI25485088099593777]Search in Google Scholar
[Prudente S, Jungtrakoon P, Marucci A, Ludovico O, Buranasupkajorn P, Mazza T, Hastings T, Milano T, Morini E, Mercuri L, Bailetti D, Mendonca C, Alberico F, Basile G, Romani M, Miccinilli E, Pizzuti A, Carella M, Barbetti F, et al. Loss-of-function mutations in APPL1 in familial diabetes mellitus. Am J Hum Genet 97, 177–185, 2015.10.1016/j.ajhg.2015.05.011457100226073777]Search in Google Scholar
[Pruhova S, Dusatkova P, Neumann D, Hollay E, Cinek O, Lebl J, Sumnik Z. Two cases of diabetic ketoacidosis in HNF1A-MODY linked to severe dehydration: is it time to change the diagnostic criteria for MODY? Diabetes Care 36, 2573–2574, 2013.10.2337/dc13-0058374793023610083]Search in Google Scholar
[Pruhova S, Dusatkova P, Sumnik Z, Kolouskova S, Pedersen O, Hansen T, Cinek O, Lebl J. Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations. Pediatr Diabetes 11, 529–535, 2010.10.1111/j.1399-5448.2010.00646.x20337973]Open DOISearch in Google Scholar
[Qin J, Zhai J, Hong R, Shan S, Kong Y, Wen Y, Wang Y, Liu J, Xie Y. Prospero-related homeobox protein (Prox1) inhibits hepatitis B virus replication through repressing multiple cis regulatory elements. J Gen Virol 90, 1246–1255, 2009.10.1099/vir.0.006007-019264593]Search in Google Scholar
[Rebouissou S, Vasiliu V, Thomas C, Bellanne-Chantelot C, Bui H, Chretien Y, Timsit J, Rosty C, Laurent-Puig P, Chauveau D, Zucman-Rossi J. Germline hepatocyte nuclear factor 1α and 1β mutations in renal cell carcinomas. Hum Mol Genet 14, 603–614, 2005.10.1093/hmg/ddi05715649945]Open DOISearch in Google Scholar
[Reiner AP, Barber MJ, Guan Y, Ridker PM, Lange LA, Chasman DI, Walston JD, Cooper GM, Jenny NS, Rieder MJ, Durda JP, Smith JD, Novembre J, Tracy RP, Rotter JI, Stephens M, Nickerson DA, Krauss RM. Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1α are associated with C-reactive protein. Am J Hum Genet 82, 1193–1201, 2008.10.1016/j.ajhg.2008.03.017242731818439552]Search in Google Scholar
[Ress A, Moelling K. Bcr interferes with beta-catenin-Tcf1 interaction. FEBS Lett 580, 1227–1230, 2006.10.1016/j.febslet.2006.01.03416442529]Search in Google Scholar
[Rho H, Jones CN, Rose RB. Kinetic stability may determine the interaction dynamics of the bifunctional protein DCoH1, the dimerization cofactor of the transcription factor HNF-1alpha. Biochemistry 49, 10187–10197, 2010.10.1021/bi101505621047120]Search in Google Scholar
[Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17, 405–424, 2015.10.1038/gim.2015.30454475325741868]Open DOISearch in Google Scholar
[Rose RB, Bayle JH, Endrizzi JA, Cronk JD, Crabtree GR, Alber T. Structural basis of dimerization, coactivator recognition and MODY3 mutations in HNF-1α. Nat Struct Biol 7, 744–748, 2000a.10.1038/7896610966642]Search in Google Scholar
[Rose RB, Endrizzi JA, Cronk JD, Holton J, Alber T. High-resolution structure of the HNF-1α dimerization domain. Biochemistry 39, 15062–15070, 2000b.10.1021/bi001996t11106484]Search in Google Scholar
[Ryffel GU. Mutations in the human genes encoding the transcription factors of the hepatocyte nuclear factor (HNF)1 and HNF4 families: Functional and pathological consequences. J Mol Endocrinol 27, 11–29, 2001.10.1677/jme.0.027001111463573]Search in Google Scholar
[Sabatti C, Service SK, Hartikainen AL, Pouta A, Ripatti S, Brodsky J, Jones CG, Zaitlen NA, Varilo T, Kaakinen M, Sovio U, Ruokonen A, Laitinen J, Jakkula E, Coin L, Hoggart C, Collins A, Turunen H, Gabriel S, et al. Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. Nat Genet 41, 35–46, 2009.10.1038/ng.271268707719060910]Open DOISearch in Google Scholar
[Scherer SE, Muzny DM, Buhay CJ, Chen R, Cree A, Ding Y, Dugan-Rocha S, Gill R, Gunaratne P, Harris RA, Hawes AC, Hernandez J, Hodgson AV, Hume J, Jackson A, Khan ZM, Kovar-Smith C, Lewis LR, Lozado RJ, et al. The finished DNA sequence of human chromosome 12. Nature 440, 346–351, 2006.10.1038/nature0456916541075]Search in Google Scholar
[Schober E, Rami B, Grabert M, Thon A, Kapellen T, Reinehr T, Holl RW. Phenotypical aspects of maturity-onset diabetes of the young (MODY diabetes) in comparison with Type 2 diabetes mellitus (T2DM) in children and adolescents: experience from a large multicentre database. Diabet Med 26, 466–473, 2009.10.1111/j.1464-5491.2009.02720.x19646184]Search in Google Scholar
[Schwitzgebel VM. Many faces of monogenic diabetes. J Diabetes Investig 5, 121–133, 2014.10.1111/jdi.12197402357224843749]Search in Google Scholar
[Shah N, Thanabalasingham G, Owen KR, James TJ. Comparability of high-sensitivity CRP methods to detect maturity-onset diabetes of the young due to HNF1A mutations. Br J Biomed Sci 71, 84–85, 2014.10.1080/09674845.2014.1197828824974685]Search in Google Scholar
[Shepherd M, Pearson ER, Houghton J, Salt G, Ellard S, Hattersley AT. No deterioration in glycemic control in HNF1alpha maturity-onset diabetes of the young following transfer from long-term insulin to sulphonylureas. Diabetes Care 26, 3191–3192, 2003.10.2337/diacare.26.11.3191-a14578267]Open DOISearch in Google Scholar
[Shepherd M, Shields B, Ellard S, Rubio-Cabezas O, Hattersley AT. A genetic diagnosis of HNF1A diabetes alters treatment and improves glycaemic control in the majority of insulin-treated patients. Diabet Med 26, 437–441, 2009.10.1111/j.1464-5491.2009.02690.x19388975]Search in Google Scholar
[Shi TT, Yang FY, Liu C, Cao X, Lu J, Zhang XL, Yuan MX, Chen C, Yang JK. Angiotensin-converting enzyme 2 regulates mitochondrial function in pancreatic β-cells. Biochem Biophys Res Commun 495, 860–866, 2018.10.1016/j.bbrc.2017.11.05529128354]Search in Google Scholar
[Shields BM, Colclough K. Towards a systematic nationwide screening strategy for MODY. Diabetologia 60, 609–612, 2017.10.1007/s00125-017-4213-72813210028132100]Open DOISearch in Google Scholar
[Shields BM, Hicks S, Shepherd MH, Colclough K, Hattersley AT, Ellard S. Maturity-onset diabetes of the young (MODY): how many cases are we missing? Diabetologia 53, 2504–2508, 2010.10.1007/s00125-010-1799-420499044]Search in Google Scholar
[Shields BM, McDonald TJ, Ellard S, Campbell MJ, Hyde C, Hattersley AT. The development and validation of a clinical prediction model to determine the probability of MODY in patients with young-onset diabetes. Diabetologia 55, 1265–1272, 2012.2221869810.1007/s00125-011-2418-8332867622218698]Search in Google Scholar
[Shih D, Bussen M, Sehayek E. Hepatocyte nuclear factor-1 is an essential regulator of bile acid and plasma cholesterol metabolism. Nature 27, 379–382, 2001a.10.1038/8687111279518]Search in Google Scholar
[Shih D, Screenan S, Munoz K, Diabetes LP. Loss of HNF-1alpha function in mice leads to abnormal expression of genes involved in pancreatic islet development and metabolism. Diabetes 50, 2472–2480, 2001b.10.2337/diabetes.50.11.247211679424]Search in Google Scholar
[Shih DQ, Stoffel M. Dissecting the transcriptional network of pancreatic islets during development and differentiation. Proc Natl Acad Sci 98, 14189–14191, 2001.10.1073/pnas.2515589986465511734636]Open DOISearch in Google Scholar
[Shu Y, Sheardown SA, Brown C, Owen RP, Zhang S, Castro RA, Ianculescu AG, Yue L, Lo JC, Burchard EG, Brett CM, Giacomini KM. Effect of genetic variation in the organic cation transporter 1 (OCT1) on metformin action. J Clin Invest 117, 1422–1431, 2007.10.1172/JCI30558185725917476361]Search in Google Scholar
[Simaite D, Kofent J, Gong M, Ruschendorf F, Jia S, Arn P, Bentler K, Ellaway C, Kuhnen P, Hoffmann GF, Blau N, Spagnoli FM, Hubner N, Raile K. Recessive mutations in PCBD1 cause a new type of early-onset diabetes. Diabetes 63, 3557–3564, 2014.10.2337/db13-178424848070]Search in Google Scholar
[Skupien J, Gorczynska-Kosiorz S, Klupa T, Cyganek K, Wanic K, Borowiec M, Sieradzki J, Malecki MT. Molecular background and clinical characteristics of HNF1A MODY in a Polish population. Diabetes Metab 34, 524–528, 2008.10.1016/j.diabet.2008.05.00418838325]Search in Google Scholar
[Sneha P, Thirumal KD, George PDC, Siva R, Zayed H. Determining the role of missense mutations in the POU domain of HNF1A that reduce the DNA-binding affinity: A computational approach. PLoS One 12, 2017.10.1371/journal.pone.0174953539192628410371]Search in Google Scholar
[Soeki T, Sata M. Inflammatory biomarkers and atherosclerosis. Int Heart J 57, 134–139, 2016.10.1536/ihj.15-34626973275]Open DOISearch in Google Scholar
[Sourdive DJ, Transy C, Garbay S, Yaniv M. The bifunctional DCOH protein binds to HNF1 independently of its 4-alpha-carbinolamine dehydratase activity. Nucleic Acids Res 25, 1476–1484, 1997.10.1093/nar/25.8.14761466279092652]Open DOISearch in Google Scholar
[Soutoglou E, Papafotiou G, Katrakili N, Talianidis I. Transcriptional activation by hepatocyte nuclear factor-1 requires synergism between multiple coactivator proteins. J Biol Chem 275, 12515–12520, 2000.10.1074/jbc.275.17.1251510777539]Search in Google Scholar
[Stanescu D, Hughes N, Kaplan B, Stanley C, De Leon D. Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A. J Clin Endocrinol Metab 97, 2026–2030, 2012.10.1210/jc.2012-1356367429622802087]Search in Google Scholar
[Stanik J, Dusatkova P, Cinek O, Valentinova L, Huckova M, Skopkova M, Dusatkova L, Stanikova D, Pura M, Klimes I, Lebl J, Gasperikova D, Pruhova S. De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed. Diabetologia 57, 480–484, 2014.10.1007/s00125-013-3119-224323243]Search in Google Scholar
[Steele AM, Shields BM, Shepherd M, Ellard S, Hattersley AT, Pearson ER. Increased all-cause and cardiovascular mortality in monogenic diabetes as a result of mutations in the HNF1A gene. Diabet Med 27, 157–161, 2010.10.1111/j.1464-5491.2009.02913.x20546258]Search in Google Scholar
[Stenson PD, Mort M, Ball EV, Shaw K, Phillips AD, Cooper DN. The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum Genet 133, 1–9, 2014.10.1007/s00439-013-1358-4389814124077912]Search in Google Scholar
[Stoffers DA, Ferrer J, Clarke WL, Habener JF. Early-onset type-ll diabetes mellitus (MODY4) linked to IPF1. Nat Genet 17, 138–139, 1997.10.1038/ng1097-1389326926]Search in Google Scholar
[Stride A, Vaxillaire M, Tuomi T, Barbetti F, Njolstad PR, Hansen T, Costa A, Conget I, Pedersen O, Sovik O, Lorini R, Groop L, Froguel P, Hattersley AT. The genetic abnormality in the beta cell determines the response to an oral glucose load. Diabetologia 45, 427–435, 2002.10.1007/s00125-001-0770-911914749]Open DOISearch in Google Scholar
[Sur I, Taipale J. Genetic evidence that HNF-1alpha-dependent transcriptional control of HNF-4alpha is essential for human pancreatic beta cell function. Nat Rev Cancer 110, 827–833, 2016.10.1172/JCI0215085]Search in Google Scholar
[Szklarczyk D, Morris JH, Cook H, Kuhn M, Wyder S, Simonovic M, Santos A, Doncheva NT, Roth A, Bork P, Jensen LJ, von Mering C. The STRING database in 2017: quality-controlled protein–protein association networks, made broadly accessible. Nucleic Acids Res 45, D362–D368, 2017.10.1093/nar/gkw937521063727924014]Open DOISearch in Google Scholar
[Szopa M, Klupa T, Kapusta M, Matejko B, Ucieklak D, Glodzik W, Zapala B, Sani CM, Hohendorff J, Malecki MT, Skupien J. A decision algorithm to identify patients with high probability of monogenic diabetes due to HNF1A mutations. Endocrine 64, 1–7, 2019.10.1007/s12020-019-01863-7645387330778899]Search in Google Scholar
[Szpirer J, Pedeutour F, Kesti T, Riviere M, Syvaoja JE, Turc-Carel C, Szpirer C. Localization of the gene for DNA polymerase epsilon (POLE) to human chromosome 12q24.3 and rat chromosome 12 by somatic cell hybrid panels and fluorescence in situ hybridization. Genomics 20, 223–226, 1994.10.1006/geno.1994.11568020968]Search in Google Scholar
[Taneera J, Storm P, Groop L. Downregulation of type II diabetes mellitus and maturity onset diabetes of young pathways in human pancreatic islets from hyperglycemic donors. J Diabetes Res 2014, 237535, 2014.10.1155/2014/237535421262825379510]Search in Google Scholar
[Thanabalasingham G, Owen KR. Diagnosis and management of maturity onset diabetes of the young (MODY). BMJ 343, 6044, 2011.10.1136/bmj.d604422012810]Search in Google Scholar
[Thanabalasingham G, Shah N, Vaxillaire M, Hansen T, Tuomi T, Gasperikova D, Szopa M, Tjora E, James TJ, Kokko P, Loiseleur F, Andersson E, Gaget S, Isomaa B, Nowak N, Raeder H, Stanik J, Njolstad PR, Malecki MT, et al. A large multi-centre European study validates high-sensitivity C-reactive protein (hsCRP) as a clinical biomarker for the diagnosis of diabetes subtypes. Diabetologia 54, 2801–2810, 2011.10.1007/s00125-011-2261-y21814873]Search in Google Scholar
[Tzvetkov MV, Saadatmand AR, Bokelmann K, Meineke I, Kaiser R, Brockmoller J. Effects of OCT1 polymorphisms on the cellular uptake, plasma concentrations and efficacy of the 5-HT3 antagonists tropisetron and ondansetron. Pharmacogenomics J 12, 22–29, 2012.10.1038/tpj.2010.7520921968]Search in Google Scholar
[Tzvetkov MV, Saadatmand AR, Lotsch J, Tegeder I, Stingl JC, Brockmoller J. Genetically polymorphic OCT1: another piece in the puzzle of the variable pharmacokinetics and pharmacodynamics of the opioidergic drug Tramadol. Clin Pharmacol Ther 90, 143–150, 2011.10.1038/clpt.2011.5621562485]Search in Google Scholar
[Urbanova J, Rypackova B, Prochazkova Z, Kucera P, Cerna M, Andel M, Heneberg P. Positivity for islet cell autoantibodies in patients with monogenic diabetes is associated with later diabetes onset and higher HbA 1c level. Diabet Med 31, 466–471, 2014.10.1111/dme.1231424102923]Search in Google Scholar
[van Wering HM, Huibregtse IL, van der Zwan SM, de Bie MS, Dowling LN, Boudreau F, Rings EH, Grand RJ, Krasinski SD. Physical interaction between GATA-5 and hepatocyte nuclear factor-1alpha results in synergistic activation of the human lactase-phlorizin hydrolase promoter. J Biol Chem 277, 27659–27667, 2002.10.1074/jbc.M203645200]Search in Google Scholar
[Vaxillaire M, Abderrahmani A, Boutin P, Bailleul B, Froguel P, Yaniv M, Pontoglio M. Anatomy of a homeoprotein revealed by the analysis of human MODY3 mutations. J Biol Chem 274, 35639–35646, 1999.10.1074/jbc.274.50.35639]Search in Google Scholar
[Vaxillaire M, Froguel P. Monogenic diabetes: Implementation of translational genomic research towards precision medicine. J Diabetes 8, 782–795, 2016.10.1111/1753-0407.12446]Search in Google Scholar
[Vesterhus M, Haldorsen I, Ræder H, Molven A, Njolstad P. Reduced pancreatic volume in hepatocyte nuclear factor 1A-maturity-onset diabetes of the young. J Clin Endocrinol Metab 93, 3505–3509, 2008.10.1210/jc.2008-0340]Search in Google Scholar
[Wang H, Maechler P, Antinozzi PA, Hagenfeldt KA, Wollheim CB. Hepatocyte nuclear factor 4α regulates the expression of pancreatic β-cell genes implicated in glucose metabolism and nutrient-induced insulin secretion. J Biol Chem 275, 35953–35959, 2000.10.1074/jbc.M006612200]Search in Google Scholar
[Wang J, Huo K, Ma L, Tang L, Li D, Huang X, Yuan Y, Li C, Wang W, Guan W, Chen H, Jin C, Wei J, Zhang W, Yang Y, Liu Q, Zhou Y, Zhang C, Wu Z, Xu W, Zhang Y, Liu T, Yu D, Zhang Y, Chen L, Zhu D, Zhong X, Kang L, Gan X, Yu X, Ma Q, Yan J, Zhou L, Liu Z, Zhu Y, Zhou T, He F, Yang X. Toward an understanding of the protein interaction network of the human liver. Mol Syst Biol 7, 536, 2011.10.1038/msb.2011.6721988832]Open DOISearch in Google Scholar
[Wu KJ, Wilson DR, Shih C, Darlington GJ. The transcription factor HNF1 acts with C/EBP alpha to synergistically activate the human albumin promoter through a novel domain. J Biol Chem 269, 1177–1182, 1994.10.1016/S0021-9258(17)42239-3]Search in Google Scholar
[Wu B, Piloto S, Zeng W, Hoverter NP, Schilling TF, Waterman ML. Ring Finger Protein 14 is a new regulator of TCF/β-catenin-mediated transcription and colon cancer cell survival. EMBO Rep 14, 347–355, 2013.2344949910.1038/embor.2013.19361565423449499]Search in Google Scholar
[Wu Y, Liu H, Shi X, Yao Y, Yang W, Song Y. The long non-coding RNA HNF1A-AS1 regulates proliferation and metastasis in lung adenocarcinoma. Oncotarget 6, 9160–9172, 2015.10.18632/oncotarget.3247449620925863539]Search in Google Scholar
[Yang Q, Yamagata K, Yamamoto K, Miyagawa J, Takeda J, Iwasaki N, Iwahashi H, Yoshiuchi I, Namba M, Miyazaki J, Hanafusa T, Matsuzawa Y. Structure/function studies of hepatocyte nuclear factor-1α, a diabetes-associated transcription factor. Biochem Biophys Res Commun 266, 196–202, 1999.10.1006/bbrc.1999.174710581189]Search in Google Scholar
[Yang X, Song JH, Cheng Y, Wu W, Bhagat T, Yu Y, Abraham JM, Ibrahim S, Ravich W, Roland BC, Khashab M, Singh VK, Shin EJ, Yang X, Verma AK, Meltzer SJ, Mori Y. Long non-coding RNA HNF1A-AS1 regulates proliferation and migration in oesophageal adenocarcinoma cells. Gut 63, 881–890, 2014.10.1136/gutjnl-2013-305266461263924000294]Search in Google Scholar
[Yu M, Wang J, Li W, Yuan YZ, Li CY, Qian XH, Xu WX, Zhan YQ, Yang XM. Proteomic screen defines the hepatocyte nuclear factor 1alpha-binding partners and identifies HMGB1 as a new cofactor of HNF1alpha. Nucleic Acids Res 36, 1209–1219, 2008.10.1093/nar/gkm1131227509918160415]Search in Google Scholar
[Zhu H, Leung SW. Identification of microRNA biomarkers in type 2 diabetes: a meta-analysis of controlled profiling studies. Diabetologia 58, 900–911, 2015.10.1007/s00125-015-3510-225677225]Search in Google Scholar
[Zou Y, Lim S, Lee K, Deng X, Friedman E. Serine/threonine kinase Mirk/Dyrk1B is an inhibitor of epithelial cell migration and is negatively regulated by the Met adaptor Ran-binding protein M. J Biol Chem 278, 49573–49581, 2003.10.1074/jbc.M30755620014500717]Search in Google Scholar