Citations for
1HNF1A, MODY3
Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation. 2020. PMID:
Althari S, Najmi LA, Bennett AJ, Aukrust I, Rundle JK, Colclough K, Molnes J, Kaci A, Nawaz S, van der Lugt T, Hassanali N, Mahajan A, Molven A, Ellard S, McCarthy MI, Bjørkhaug L, Njølstad PR, Gloyn AL
Am J Hum Genet. Oct 1;107(4):670-682. doi: 10.1016/j.ajhg.2020.08.016. Epub 2020 Sep 9 2020
2HNF1A
Congenital hyperinsulinism due to mutations in HNF1A.
Yau D, Colclough K, Natarajan A, Parikh R, Canham N, Didi M, Senniappan S, Banerjee I.
Eur J Med Genet. Jun;63(6):103928. doi: 10.1016/j.ejmg.2020.103928. Epub 2020 Apr 20 2020
3BCL2L1, HNF1A
Defective functions of HNF1A variants on BCL2L1 transactivation and beta-cell growth.
Sujjitjoon J, Charoensuk C, Thanyaphon T, Kooptiwut S, Thamtarana PJ, Tangjittipokin W, Chongjaroen N, Chanprasert C, Abubakar Z, Lapbenjakul S, Yenchitsomanus PT, Plengvidhya N.
Biochem Biophys Res Commun. Aug 27;529(3):826-833. doi: 10.1016/j.bbrc.2020.05.155. Epub 2020 Jul 17. 2020
4CASC2, HNF1A
HNF1A/CASC2 regulates pancreatic cancer cell proliferation through PTEN/Akt signaling.
Yu Y, Liang S, Zhou Y, Li S, Li Y, Liao W.
J Cell Biochem. Mar;120(3):2816-2827. doi: 10.1002/jcb.26395. Epub 2018 Nov 30 2019
5HNF1A, SOCS3, STAT3
HNF1α Controls Liver Lipid Metabolism and Insulin Resistance via Negatively Regulating the SOCS-3-STAT3 Signaling Pathway.
Tan J, Xu J, Wei G, Zhang L, Sun L, Wang G, Li F, Jiang F.
J Diabetes Res. May 15;2019:5483946. doi: 10.1155/2019/5483946. eCollection 2019 2019
6HNF1A
HNF1A is a novel oncogene that regulates human pancreatic cancer stem cell properties.
Abel EV, Goto M, Magnuson B, Abraham S, Ramanathan N, Hotaling E, Alaniz AA, Kumar-Sinha C, Dziubinski ML, Urs S, Wang L, Shi J, Waghray M, Ljungman M, Crawford HC, Simeone DM.
Elife Aug 3;7:e33947. doi: 10.7554/eLife.33947 2018
7HNF1A, HNF4A
Clinical heterogeneity of hyperinsulinism due to HNF1A and HNF4A mutations.
Tung JY, Boodhansingh K, Stanley CA, De León DD.
Pediatr Diabetes. Aug;19(5):910-916. doi: 10.1111/pedi.12655. Epub 2018 Mar 1 2018
8HNF1A, MODY3
Determining the role of missense mutations in the POU domain of HNF1A that reduce the DNA-binding affinity: A computational approach.
P S, D TK, C GPD, R S, Zayed H.
PLoS One. Apr 14;12(4):e0174953. doi: 10.1371/journal.pone.0174953. eCollection 2017 2017
9HNF1A
Hepatocyte Nuclear Factor 1A Is a Cell-Intrinsic Transcription Factor Required for B Cell Differentiation and Development in Mice.
von Wnuck Lipinski K, Sattler K, Peters S, Weske S, Keul P, Klump H, Heusch G, Göthert JR, Levkau B.
J Immunol. Feb 15;196(4):1655-65. doi: 10.4049/jimmunol.1500897. Epub 2016 Jan 22 2016
10HNF1A, YWHAZ
14-3-3ζ interacts with hepatocyte nuclear factor 1α and enhances its DNA binding and transcriptional activation.
Yu M, Guo HX, Hui-Chen, Wang XH, Li CY, Zhan YQ, Ge CH, Yang XM.
Biochim Biophys Acta 1829(9):970-9. doi: 10.1016/j.bbagrm.2013.04.004. Epub 2013 Apr 16. 2013
11HNF1A, SLC22A1
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.
O'Brien VP, Bokelmann K, Ramírez J, Jobst K, Ratain MJ, Brockmöller J, Tzvetkov MV.
J Pharmacol Exp Ther 347(1):181-92. doi: 10.1124/jpet.113.206359. 2013
12HNF1A, SIRT1
Hepatic deletion of SIRT1 decreases hepatocyte nuclear factor 1α/farnesoid X receptor signaling and induces formation of cholesterol gallstones in mice.
Purushotham A, Xu Q, Lu J, Foley JF, Yan X, Kim DH, Kemper JK, Li X.
Mol Cell Biol 32(7):1226-36. Epub 2012 Jan 30. 2012
13HNF1A
HNF1α inhibition triggers epithelial-mesenchymal transition in human liver cancer cell lines.
Pelletier L, Rebouissou S, Vignjevic D, Bioulac-Sage P, Zucman-Rossi J.
BMC Cancer 11:427. 2011
14HNF1A
Hepatic nuclear factor 1alpha (HNF1alpha) dysfunction down-regulates X-box-binding protein 1 (XBP1) and sensitizes beta-cells to endoplasmic reticulum stress.
Kirkpatrick CL, Wiederkehr A, Baquié M, Akhmedov D, Wang H, Gauthier BR, Akerman I, Ishihara H, Ferrer J, Wollheim CB.
J Biol Chem 286(37):32300-12. Epub 2011 Jul 22. 2011
15HNF1A
Hepatic adenomas caused by somatic HNF1A mutations in children with biallelic mismatch repair gene mutations.
Holter S, Pollett A, Zogopoulos G, Kim H, Schwenter F, Asai K, Gallinger S, Clendenning M, Steinbach G, Jacobson A, Boycott KM.
Gastroenterology 140(2):735-6. Epub 2010 Dec 21. No abstract available. 2011
16HNF1A, MAFA
Hnf1α (MODY3) regulates β-cell-enriched MafA transcription factor expression.
Hunter CS, Maestro MA, Raum JC, Guo M, Thompson FH 3rd, Ferrer J, Stein R.
Mol Endocrinol 25(2):339-47. doi: 10.1210/me.2010-0362. Epub 2010 Dec 30. 2011
17HNF1A, NKX6-1
Distinct regulation of hepatic nuclear factor 1alpha by NKX6.1 in pancreatic beta cells.
Donelan W, Koya V, Li SW, Yang LJ.
J Biol Chem 285(16):12181-9. Epub 2010 Jan 27.PMID: 20106981 2010
18FTO, HMGA2, HNF1A, IRS1, KCNJ11, KCNQ1, KLF14, PPARG
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.
Voight BF, Scott LJ, Steinthorsdottir V, Morris AP, Dina C, Welch RP, Zeggini E, Huth C, Aulchenko YS, Thorleifsson G, McCulloch LJ, Ferreira T, Grallert H, Amin N, Wu G, Willer CJ, Raychaudhuri S, McCarroll SA, Langenberg C, Hofmann OM, Dupuis J, Qi L, Segrè AV, van Hoek M, Navarro P, Ardlie K, Balkau B, Benediktsson R, Bennett AJ, Blagieva R, Boerwinkle E, Bonnycastle LL, Bengtsson Boström K, Bravenboer B, Bumpstead S, Burtt NP, Charpentier G, Chines PS, Cornelis M, Couper DJ, Crawford G, Doney AS, Elliott KS, Elliott AL, Erdos MR, Fox CS, Franklin CS, Ganser M, Gieger C, Grarup N, Green T, Griffin S, Groves CJ, Guiducci C, Hadjadj S, Hassanali N, Herder C, Isomaa B, Jackson AU, Johnson PR, Jørgensen T, Kao WH, Klopp N, Kong A, Kraft P, Kuusisto J, Lauritzen T, Li M, Lieverse A, Lindgren CM, Lyssenko V, Marre M, Meitinger T, Midthjell K, Morken MA, Narisu N, Nilsson P, Owen KR, Payne F, Perry JR, Petersen AK, Platou C, Proença C, Prokopenko I, Rathmann W, Rayner NW, Robertson NR, Rocheleau G, Roden M, Sampson MJ, Saxena R, Shields BM, Shrader P, Sigurdsson G, Sparsø T, Strassburger K, Stringham HM, Sun Q, Swift AJ, Thorand B, Tichet J, Tuomi T, van Dam RM, van Haeften TW, van Herpt T, van Vliet-Ostaptchouk JV, Walters GB, Weedon MN, Wijmenga C, Witteman J, Bergman RN, Cauchi S, Collins FS, Gloyn AL, Gyllensten U, Hansen T, Hide WA, Hitman GA, Hofman A, Hunter DJ, Hveem K, Laakso M, Mohlke KL, Morris AD, Palmer CN, Pramstaller PP, Rudan I, Sijbrands E, Stein LD, Tuomilehto J, Uitterlinden A, Walker M, Wareham NJ, Watanabe RM, Abecasis GR, Boehm BO, Campbell H, Daly MJ, Hattersley AT, Hu FB, Meigs JB, Pankow JS, Pedersen O, Wichmann HE, Barroso I, Florez JC, Frayling TM, Groop L, Sladek R, Thorsteinsdottir U, Wilson JF, Illig T, Froguel P, van Duijn CM, Stefansson K, Altshuler D, Boehnke M, McCarthy MI; MAGIC investigators; GIANT Consortium.
Nat Genet 42(7):579-89.PMID: 20581827 2010
19CLCN5, HNF1A
The transcription factor HNF1α regulates expression of chloride-proton exchanger ClC-5 in the renal proximal tubule.
Tanaka K, Terryn S, Geffers L, Garbay S, Pontoglio M, Devuyst O.
Am J Physiol Renal Physiol 299(6):F1339-47. Epub 2010 Sep 1. 2010
20HNF1A, IDDM16
Increased all-cause and cardiovascular mortality in monogenic diabetes as a result of mutations in the HNF1A gene.
Steele AM, Shields BM, Shepherd M, Ellard S, Hattersley AT, Pearson ER.
Diabet Med 27(2):157-61. 2010
21HNF1A, NPC1L1
HNF1alpha and SREBP2 are important regulators of NPC1L1 in human liver.
Pramfalk C, Jiang ZY, Cai Q, Hu H, Zhang SD, Han TQ, Eriksson M, Parini P.
J Lipid Res 51(6):1354-62. 2010
22HNF1A, MODY3
Functional defect of truncated hepatocyte nuclear factor-1alpha (G554fsX556) associated with maturity-onset diabetes of the young.
Kooptiwut S, Sujjitjoon J, Plengvidhya N, Boonyasrisawat W, Chongjaroen N, Jungtrakoon P, Semprasert N, Furuta H, Nanjo K, Banchuin N, Yenchitsomanus PT.
Biochem Biophys Res Commun 383(1):68-72. Epub 2009 Mar 29. 2009
23HNF1A, HNF1B, SLC23A1
Hepatocyte nuclear factor 1 is essential for transcription of sodium-dependent vitamin C transporter protein 1.
Michels AJ, Hagen TM.
Am J Physiol Cell Physiol 297(5):C1220-7. Epub 2009 Sep 9.PMID: 19741195 2009
24HNF1A, MODY3
Hnf1alpha (MODY3) controls tissue-specific transcriptional programs and exerts opposed effects on cell growth in pancreatic islets and liver.
Servitja JM, Pignatelli M, Maestro MA, Cardalda C, Boj SF, Lozano J, Blanco E, Lafuente A, McCarthy MI, Sumoy L, Guigó R, Ferrer J.
Mol Cell Biol 29(11):2945-59. Epub 2009 Mar 16. 2009
25HNF1A, MODY3
Mutations of maturity-onset diabetes of the young (MODY) genes in Thais with early-onset type 2 diabetes mellitus.
Plengvidhya N, Boonyasrisawat W, Chongjaroen N, Jungtrakoon P, Sriussadaporn S, Vannaseang S, Banchuin N, Yenchitsomanus PT.
Clin Endocrinol (Oxf). Jun;70(6):847-53. doi: 10.1111/j.1365-2265.2008.03397.x. Epub 2008 Sep 22 2009
26HNF1A, HNF1B
Distinct roles of HNF1beta, HNF1alpha, and HNF4alpha in regulating pancreas development, beta-cell function and growth.
Maestro MA, Cardalda C, Boj SF, Luco RF, Servitja JM, Ferrer J.
Endocr Dev 12:33-45. Review. 2007
27HNF1A, MODY3
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.
Harries LW, Ellard S, Stride A, Morgan NG, Hattersley AT.
Hum Mol Genet 15(14):2216-24. Epub 2006 Jun 7. 2006
28HNF1A, MODY3, HNF4A, MODY1
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.
Ellard S, Colclough K.
Hum Mutat 27(9):854-69. 2006
29VIP, CREM, G6PC, HNF1A, HNF4A
Transcriptional regulation of the glucose-6-phosphatase gene by cAMP/vasoactive intestinal peptide in the intestine. Role of HNF4alpha, CREM, HNF1alpha, and C/EBPalpha.
Gautier-Stein A, Zitoun C, Lalli E, Mithieux G, Rajas F.
J Biol Chem 281(42):31268-78. Epub 2006 Aug 7. 2006
30HNF1A, HNF1B, DPP4
Mutant HNF-1alpha and mutant HNF-1beta identified in MODY3 and MODY5 downregulate DPP-IV gene expression in Caco-2 cells.
Gu N, Adachi T, Matsunaga T, Takeda J, Tsujimoto G, Ishihara A, Yasuda K, Tsuda K.
Biochem Biophys Res Commun 346(3):1016-23. Epub 2006 Jun 9. 2006
31HNF1A, HNF4A, PROS1
Regulation of the human protein S gene promoter by liver enriched transcription factors.
Hall AJ, Peake IR, Winship PR.
Br J Haematol 135(4):538-46. 2006
32HNF1A, HNF1B
Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas.
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.
Hum Mol Genet 14(5):603-14. Epub 2005 Jan 13. 2005
33HNF4A, HNF1A, MODY1
Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4alpha mutations in a large European collection.
Pearson ER, Pruhova S, Tack CJ, Johansen A, Castleden HA, Lumb PJ, Wierzbicki AS, Clark PM, Lebl J, Pedersen O, Ellard S, Hansen T, Hattersley AT.
Diabetologia 48(5):878-85. Epub 2005 Apr 14. 2005
34HNF1A, HNF1B, DPP4, ACE2, SPP1
Identification of target genes of the transcription factor HNF1beta and HNF1alpha in a human embryonic kidney cell line.
Senkel S, Lucas B, Klein-Hitpass L, Ryffel GU.
Biochim Biophys Acta 1731(3):179-90. Epub 2005 Nov 2. 2005
35HNF4A, ONECUT1, HNF1A
Control of pancreas and liver gene expression by HNF transcription factors.
Odom DT, Zizlsperger N, Gordon DB, Bell GW, Rinaldi NJ, Murray HL, Volkert TL, Schreiber J, Rolfe PA, Gifford DK, Fraenkel E, Bell GI, Young RA.
Science 303(5662):1378-81. 2004
36HNF1A
Evidence from a large U.K. family collection that genes influencing age of onset of type 2 diabetes map to chromosome 12p and to the MODY3/NIDDM2 locus on 12q24.
Wiltshire S, Frayling TM, Groves CJ, Levy JC, Hitman GA, Sampson M, Walker M, Menzel S, Hattersley AT, Cardon LR, McCarthy MI.
Diabetes 53(3):855-60. 2004
37APOH, HNF1A
Cloning and characterization of the human beta2-glycoprotein I (beta2-GPI) gene promoter: roles of the atypical TATA box and hepatic nuclear factor-1alpha in regulating beta2-GPI promoter activity.
Wang HH, Chiang AN.
Biochem J 380(Pt 2):455-63. 2004
38HNF1A, MODY3
Identification and functional characterization of a novel mutation of hepatocyte nuclear factor-1alpha gene in a Korean family with MODY3.
Kim KA, Kang K, Chi YI, Chang I, Lee MK, Kim KW, Shoelson SE, Lee MS.
Diabetologia 46(5):721-7. Epub 2003 Apr 24. 2003
39HNF1A
Bi-allelic inactivation of TCF1 in hepatic adenomas.
Bluteau O, Jeannot E, Bioulac-Sage P, Marques JM, Blanc JF, Bui H, Beaudoin JC, Franco D, Balabaud C, Laurent-Puig P, Zucman-Rossi J.
Nat Genet 32(2):312-5. 2002
40GATA5, HNF1A
Physical interaction between GATA-5 and hepatocyte nuclear factor-1alpha results in synergistic activation of the human lactase-phlorizin hydrolase promoter.
van Wering HM, Huibregtse IL, van der Zwan SM, de Bie MS, Dowling LN, Boudreau F, Rings EH, Grand RJ, Krasinski SD.
J Biol Chem 277(31):27659-67. 2002
41HNF1A, FGFR4
FGFR4 overexpression in pancreatic cancer is mediated by an intronic enhancer activated by HNF1alpha.
Shah RN, Ibbitt JC, Alitalo K, Hurst HC.
Oncogene 21(54):8251-61. 2002
42HNF1A
Hepatocyte nuclear factor-1alpha is an essential regulator of bile acid and plasma cholesterol metabolism.
Shih DQ, Bussen M, Sehayek E, Ananthanarayanan M, Shneider BL, Suchy FJ, Shefer S, Bollileni JS, Gonzalez FJ, Breslow JL, Stoffel M.
Nat Genet 27(4):375-82. 2001
43MODY3, HNF1A
Analysis of a non-functional HNF-1alpha (TCF1) mutation in Japanese subjects with familial type 1 diabetes.
Yoshiuchi I, Yamagata K, Yoshimoto M, Zhu Q, Yang Q, Nammo T, Uenaka R, Kinoshita Ei, Hanafusa T, Miyagawa Ji, Matsuzawa Y.
Hum Mutat 18(4):345-51. 2001
44HNF4A, MODY1, MODY3, HNF1A
Naturally occurring mutations in the human HNF4alpha gene impair the function of the transcription factor to a varying degree.
Lausen J, Thomas H, Lemm I, Bulman M, Borgschulze M, Lingott A, Hattersley AT, Ryffel GU.
Nucleic Acids Res 28(2):430-7 2000
45HNF1A
Identification of seven novel nucleotide variants in the hepatocyte nuclear factor-1alpha (TCF1) promoter region in MODY patients.
Godart F, Bellanne-Chantelot C, Clauin S, Gragnoli C, Abderrahmani A, Blanche H, Boutin P, Chevre JC, Froguel P, Bailleul B.
Hum Mutat 15(2):173-80 2000
46MODY3, HNF1A
Diabetes-associated mutations in a beta-cell transcription factor destabilize an antiparallel mini-zipper in a dimerization interface.
Hua QX, Zhao M, Narayana N, Nakagawa SH, Jia W, Weiss MA.
Proc Natl Acad Sci U S A 97(5):1999-2004. 2000
47HNF1A
Molecular targets of a human HNF1alpha mutation responsible for pancreatic beta-cell dysfunction.
Wang H, Antinozzi PA, Hagenfeldt KA, Maechler P, Wollheim CB.
EMBO J 19(16):4257-4264. 2000
48MODY3, HNF1A
Hepatocyte nuclear factor 1 alpha (HNF-1alpha) mutations in maturity-onset diabetes of the young.
Ellard S.
Hum Mutat 16(5):377-85. 2000
49ANGPT1, HNF1A
Molecular targets of a human HNF1 alpha mutation responsible for pancreatic beta-cell dysfunction.
Wang H, Antinozzi PA, Hagenfeldt KA, Maechler P, Wollheim CB.
EMBO J 19(16):4257-64. 2000
50DPP4, HNF1A
Regulation of the gene for human dipeptidyl peptidase IV by hepatocyte nuclear factor 1 alpha.
Erickson RH, et al.
Biochem J 338 ( Pt 1):91-7. 1999
51HNF4A, HNF1A, SERPINA1
The HNF-4/HNF-1alpha transactivation cascade regulates gene activity and chromatin structure of the human serine protease inhibitor gene cluster at 14q32.1.
Rollini P, et al.
Proc Natl Acad Sci U S A 96(18):10308-10313. 1999
52HNF1A, MODY3
Non-penetrance in a MODY 3 family with a mutation in the hepatic nuclear factor 1alpha gene: implications for predictive testing.
Miedzybrodzka Z, et al.
Eur J Hum Genet 7(6):729-32 1999
53HNF1A, HNF1B
Human insulin gene is a target gene of hepatocyte nuclear factor-1alpha (HNF-1alpha) and HNF-1beta.
Okita K, Yang Q, Yamagata K, Hangenfeldt KA, Miyagawa J, Kajimoto Y, Nakajima H, Namba M, Wollheim CB, Hanafusa T, Matsuzawa Y.
Biochem Biophys Res Commun 263(2):566-9. 1999
54MODY3, HNF1A
Linkage and molecular scanning analyses of MODY3/hepatocyte nuclear factor-1 alpha gene in typical familial type 2 diabetes : evidence for novel mutations in exons 8 and 10.
Elbein SC, et al.
J Clin Endocrinol Metab 83 : 2059-2065. 1998
55MODY3, HNF1A
Dominant-negative suppression of HNF-1alpha function results in defective insulin gene transcription and impaired metabolism-secretion coupling in a pancreatic beta-cell line.
Wang H, et al.
EMBO J 17 : 6701-6713. 1998
56HNF4A, HNF1A
Rescue of the HNF4->HNF1alpha pathway in hepatoma variant cells containing human chromosome 12.
Bulla GA, et al.
Genomics 54 : 398-407. 1998
57MODY3, HNF1A
Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-onset diabetes of the young (MODY3).
Vaxillaire M, et al.
Hum Mol Genet 6 : 583-586. 1997
58MODY3, HNF1A
Novel MODY3 mutations in the hepatocyte nuclear factor-1alpha gene. Evidence for a hyperexcitability of pancreatic beta-cells to intravenous secretagogues in a glucose-tolerant carrier of a P447L mutation.
Hansen T, et al.
Diabetes 46 : 726-730. 1997
59MODY3, HNF1A
Mutations in the hepatocyte nuclear factor-1alpha gene are a common cause of maturity-onset diabetes of the young in the U.K.
Frayling TM, et al.
Diabetes 46 : 720-725. 1997
60MODY3, HNF1A
Mutations in the hepatocyte nuclear factor-1alpha gene in MODY and early-onset NIDDM. Evidence for a mutational hotspot in exon 4.
Kaisaki PJ, et al.
Diabetes 46 : 528-535. 1997
61MODY3, HNF1A
Mutations in the hepatocyte nuclear factor-1alpha/MODY3 gene in Japanese subjects with early- and late-onset NIDDM.
Iwasaki N, Oda N, Ogata M, Hara M, Hinokio Y, Oda Y, Yamagata K, Kanematsu S, Ohgawara H, Omori Y, Bell GI.
Diabetes 46(9):1504-8. 1997
62MODY3, HNF1A
Mutations in the hepatocyte nuclear factor-1alpha gene (MODY3) are not a major cause of late-onset NIDDM in Japanese subjects.
Yamada S, Nishigori H, Onda H, Takahashi K, Kitano N, Morikawa A, Takeuchi T, Takeda J.
Diabetes 46(9):1512-3. 1997
63IDDM16, HNF1A
Identification of mutations in the hepatocyte nuclear factor (HNF)-1alpha gene in Japanese subjects with IDDM.
Yamada S, Nishigori H, Onda H, Utsugi T, Yanagawa T, Maruyama T, Onigata K, Nagashima K, Nagai R, Morikawa A, Takeuchi T, Takeda J.
Diabetes 46(10):1643-7. 1997
64MODY3, HNF1A
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.
Gragnoli C, Lindner T, Cockburn BN, Kaisaki PJ, Gragnoli F, Marozzi G, Bell GI.
Diabetes 46(10):1648-51. 1997
65MODY3, HNF1A
A rapid screening method for hepatocyte nuclear factor 1 alpha frameshift mutations; prevalence in maturity-onset diabetes of the young and late-onset non-insulin dependent diabetes.
Frayling TM, Bulman MP, Appleton M, Hattersley AT, Ellard S.
Hum Genet 101(3):351-4. 1997
66MODY3, HNF1A
Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3).
Yamagata K, et al.
Nature 384 : 455-458. 1996
67HNF1A
The human high mobility group (HMG)-box transcription factor TCF-1 : novel isoforms due to alternative splicing and usage of a new exon.
Mayer K, et al.
Biochim Biophys Acta 1263 : 169-172. 1995
68HNF1A
More potent transcriptional activators or a transdominant inhibitor of the HNF1 homeoprotein family are generated by alternative RNA processing.
Bach I, Yaniv M.
EMBO J 12(11):4229-42. 1993
69HNF1A
A POU-A related region dictates DNA binding specificity of LFB1/HNF1 by orienting the two XL-homeodomains in the dimer.
Tomei L, Cortese R, De Francesco R.
EMBO J 11(11):4119-29. 1992
70HNF1A, HNF1B
Two members of an HNF1 homeoprotein family are expressed in human liver.
Bach I, et al.
Nucleic Acids Res 19 : 3553-3559. 1991
71HNF1A, HNF1B
HNF-1 alpha and HNF-1 beta (vHNF-1) share dimerization and homeo domains, but not activation domains, and form heterodimers in vitro.
Mendel DB, Hansen LP, Graves MK, Conley PB, Crabtree GR.
Genes Dev 5(6):1042-56. 1991
72PCBD1, HNF1A
Characterization of a cofactor that regulates dimerization of a mammalian homeodomain protein.
Mendel DB, Khavari PA, Conley PB, Graves MK, Hansen LP, Admon A, Crabtree GR.
Science 254(5039):1762-7. 1991
73HNF1A
Cloning of human hepatic nuclear factor 1 (HNF1) and chromosomal localization of its gene in man and mouse.
Bach I, et al.
Genomics 8 : 155-164. 1990
74HNF1A
The liver-specific transcription factor LF-B1 contains a highly diverged homeobox DNA binding domain.
Frain M, Swart G, Monaci P, Nicosia A, Stampfli S, Frank R, Cortese R.
Cell 59(1):145-57. 1989
75HNF1A, HNF1B
Two different liver-specific factors stimulate in vitro transcription from the human alpha-1-antitrypsin promoter.
Monaci P, et al.
EMBO J 7 : 2075-2087. 1988