| 1 | HNF1B
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| HNF1B controls proximal-intermediate nephron segment identity in vertebrates by regulating Notch signalling components and Irx1/2.
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| Heliot C, Desgrange A, Buisson I, Prunskaite-Hyyryläinen R, Shan J, Vainio S, Umbhauer M, Cereghini S.
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| Development 140(4):873-85. doi: 10.1242/dev.086538.
2013
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| 2 | HNF1B, PAX2
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| Hnf1b and Pax2 cooperate to control different pathways in kidney and ureter morphogenesis.
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| Paces-Fessy M, Fabre M, Lesaulnier C, Cereghini S.
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| Hum Mol Genet 21(14):3143-55. doi: 10.1093/hmg/dds141. Epub 2012 Apr 17.
2012
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| 3 | HNF1B, NUDT11, SLC22A3
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| Genetic and functional analyses implicate the NUDT11, HNF1B, and SLC22A3 genes in prostate cancer pathogenesis.
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| Grisanzio C, Werner L, Takeda D, Awoyemi BC, Pomerantz MM, Yamada H, Sooriakumaran P, Robinson BD, Leung R, Schinzel AC, Mills I, Ross-Adams H, Neal DE, Kido M, Yamamoto T, Petrozziello G, Stack EC, Lis R, Kantoff PW, Loda M, Sartor O, Egawa S, Tewari AK, Hahn WC, Freedman ML.
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| Proc Natl Acad Sci U S A 109(28):11252-7. doi: 10.1073/pnas.1200853109. Epub 2012 Jun 22.
2012
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| 4 | ADCY5, HNF1B, PDE4C, PKD2
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| Polycystin-2 and phosphodiesterase 4C are components of a ciliary A-kinase anchoring protein complex that is disrupted in cystic kidney diseases.
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| Choi YH, Suzuki A, Hajarnis S, Ma Z, Chapin HC, Caplan MJ, Pontoglio M, Somlo S, Igarashi P.
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| Proc Natl Acad Sci U S A 108(26):10679-84. Epub 2011 Jun 13.
2011
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| 5 | HNF1B, PAX2
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| HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.
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| Thomas R, Sanna-Cherchi S, Warady BA, Furth SL, Kaskel FJ, Gharavi AG.
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| Pediatr Nephrol 26(6):897-903. doi: 10.1007/s00467-011-1826-9. Epub 2011 Mar 5.
2011
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| 6 | DEL17Q12, HNF1B, MODY5, RCAD
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| Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.
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| Nagamani SC, Erez A, Shen J, Li C, Roeder E, Cox S, Karaviti L, Pearson M, Kang SH, Sahoo T, Lalani SR, Stankiewicz P, Sutton VR, Cheung SW.
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| Eur J Hum Genet 18(3):278-84. Epub 2009 Oct 21.PMID: 19844256 2010
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| 7 | HNF1B
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| HNF1B alterations associated with congenital anomalies of the kidney and urinary tract.
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| Nakayama M, Nozu K, Goto Y, Kamei K, Ito S, Sato H, Emi M, Nakanishi K, Tsuchiya S, Iijima K.
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| Pediatr Nephrol 25(6):1073-9. Epub 2010 Feb 13.PMID: 20155289 2010
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| 8 | HNF1B
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| A mitotic transcriptional switch in polycystic kidney disease.
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| Verdeguer F, Le Corre S, Fischer E, Callens C, Garbay S, Doyen A, Igarashi P, Terzi F, Pontoglio M.
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| Nat Med 16(1):106-10. Epub 2009 Dec 6.PMID: 19966811 2010
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| 9 | DEL17Q12, HNF1B, LHX1, RCAD
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| Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.
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| Moreno-De-Luca D; SGENE Consortium, Mulle JG; Simons Simplex Collection Genetics Consortium, Kaminsky EB, Sanders SJ; GeneSTAR, Myers SM, Adam MP, Pakula AT, Eisenhauer NJ, Uhas K, Weik L, Guy L, Care ME, Morel CF, Boni C, Salbert BA, Chandrareddy A, Demmer LA, Chow EW, Surti U, Aradhya S, Pickering DL, Golden DM, Sanger WG, Aston E, Brothman AR, Gliem TJ, Thorland EC, Ackley T, Iyer R, Huang S, Barber JC, Crolla JA, Warren ST, Martin CL, Ledbetter DH.
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| Am J Hum Genet 87(5):618-30. Epub 2010 Nov 4.PMID: 21055719 2010
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| 10 | HNF1B
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| Hepatocyte nuclear factor-1beta(HNF-1beta) in human urogenital organs: its expression and role in embryogenesis and tumorigenesis.
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| Kato N, Motoyama T.
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| Histol Histopathol 24(11):1479-86. Review.PMID: 19760597 2009
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| 11 | HNF1A, HNF1B, SLC23A1
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| Hepatocyte nuclear factor 1 is essential for transcription of sodium-dependent vitamin C transporter protein 1.
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| Michels AJ, Hagen TM.
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| Am J Physiol Cell Physiol 297(5):C1220-7. Epub 2009 Sep 9.PMID: 19741195 2009
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| 12 | HNF1B
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| Evidence for two independent prostate cancer risk-associated loci in the HNF1B gene at 17q12.
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| Sun J, Zheng SL, Wiklund F, Isaacs SD, Purcell LD, Gao Z, Hsu FC, Kim ST, Liu W, Zhu Y, Stattin P, Adami HO, Wiley KE, Dimitrov L, Sun J, Li T, Turner AR, Adams TS, Adolfsson J, Johansson JE, Lowey J, Trock BJ, Partin AW, Walsh PC, Trent JM, Duggan D, Carpten J, Chang BL, Grönberg H, Isaacs WB, Xu J.
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| Nat Genet 40(10):1153-5. Epub 2008 Aug 31.
2008
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| 13 | MODY5, HNF1B
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| Exonic duplication of the hepatocyte nuclear factor-1beta gene (transcription factor 2, hepatic) as a cause of maturity onset diabetes of the young type 5.
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| Carette C, Vaury C, Barthelemy A, Clauin S, Grunfeld JP, Timsit J, Bellanne-Chantelot C.
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| J Clin Endocrinol Metab 92(7):2844-7. Epub 2007 Apr 17. 2007
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| 14 | HNF1B
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| Anomalies of the TCF2 gene are the main cause of fetal bilateral hyperechogenic kidneys.
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| Decramer S, Parant O, Beaufils S, Clauin S, Guillou C, Kessler S, Aziza J, Bandin F, Schanstra JP, Bellanne-Chantelot C.
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| J Am Soc Nephrol 18(3):923-33. Epub 2007 Jan 31. 2007
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| 15 | DEL17Q12, HNF1B, MODY5, RCAD
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| Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy.
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| Mefford HC, Clauin S, Sharp AJ, Moller RS, Ullmann R, Kapur R, Pinkel D, Cooper GM, Ventura M, Ropers HH, Tommerup N, Eichler EE, Bellanne-Chantelot C.
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| Am J Hum Genet 81(5):1057-69. Epub 2007 Sep 26. 2007
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| 16 | HNF1A, HNF1B
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| Distinct roles of HNF1beta, HNF1alpha, and HNF4alpha in regulating pancreas development, beta-cell function and growth.
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| Maestro MA, Cardalda C, Boj SF, Luco RF, Servitja JM, Ferrer J.
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| Endocr Dev 12:33-45. Review.
2007
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| 17 | RCAD, MODY5, HNF1B
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| Mutations in hepatocyte nuclear factor-1beta and their related phenotypes.
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| Edghill EL, Bingham C, Ellard S, Hattersley AT.
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| J Med Genet 43(1):84-90. Epub 2005 Jun 1. 2006
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| 18 | HNF1B, MODY5
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| Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1beta/MODY5 mutations.
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| Haumaitre C, Fabre M, Cormier S, Baumann C, Delezoide AL, Cereghini S.
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| Hum Mol Genet 15(15):2363-75. Epub 2006 Jun 26. 2006
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| 19 | HNF1A, HNF1B, DPP4
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| Mutant HNF-1alpha and mutant HNF-1beta identified in MODY3 and MODY5 downregulate DPP-IV gene expression in Caco-2 cells.
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| Gu N, Adachi T, Matsunaga T, Takeda J, Tsujimoto G, Ishihara A, Yasuda K, Tsuda K.
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| Biochem Biophys Res Commun 346(3):1016-23. Epub 2006 Jun 9. 2006
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| 20 | HNF1B
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| Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1beta in human pancreatic development.
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| Edghill EL, Bingham C, Slingerland AS, Minton JA, Noordam C, Ellard S, Hattersley AT.
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| Diabet Med 23(12):1301-6. 2006
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| 21 | HNF1B, MODY5, RCAD
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| Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort.
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| Ulinski T, Lescure S, Beaufils S, Guigonis V, Decramer S, Morin D, Clauin S, Desch�nes G, Bouissou F, Bensman A, Bellann�-Chantelot C.
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| J Am Soc Nephrol 17(2):497-503. Epub 2005 Dec 21. 2006
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| 22 | HNF1A, HNF1B
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| Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas.
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| 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.
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| Hum Mol Genet 14(5):603-14. Epub 2005 Jan 13. 2005
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| 23 | DEL17Q12, HNF1B, MODY5, RCAD
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| Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5.
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| Bellanne-Chantelot C, Clauin S, Chauveau D, Collin P, Daumont M, Douillard C, Dubois-Laforgue D, Dusselier L, Gautier JF, Jadoul M, Laloi-Michelin M, Jacquesson L, Larger E, Louis J, Nicolino M, Subra JF, Wilhem JM, Young J, Velho G, Timsit J.
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| Diabetes 54(11):3126-32. 2005
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| 24 | PKHD1, HNF1B
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| Role of the hepatocyte nuclear factor-1beta (HNF-1beta) C-terminal domain in Pkhd1 (ARPKD) gene transcription and renal cystogenesis.
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| Hiesberger T, Shao X, Gourley E, Reimann A, Pontoglio M, Igarashi P.
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| J Biol Chem 280(11):10578-86. Epub 2005 Jan 12. 2005
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| 25 | HNF1A, HNF1B, DPP4, ACE2, SPP1
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| Identification of target genes of the transcription factor HNF1beta and HNF1alpha in a human embryonic kidney cell line.
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| Senkel S, Lucas B, Klein-Hitpass L, Ryffel GU.
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| Biochim Biophys Acta 1731(3):179-90. Epub 2005 Nov 2. 2005
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| 26 | HNF1B, MODY5
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| HNF1beta/TCF2 mutations impair transactivation potential through altered co-regulator recruitment.
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| Barbacci E, Chalkiadaki A, Masdeu C, Haumaitre C, Lokmane L, Loirat C, Cloarec S, Talianidis I, Bellanne-Chantelot C, Cereghini S.
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| Hum Mol Genet 13(24):3139-49. Epub 2004 Dec 15. 2004
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| 27 | HNF1B, MODY5
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| Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations.
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| Bellanné-Chantelot C, Chauveau D, Gautier JF, Dubois-Laforgue D, Clauin S, Beaufils S, Wilhelm JM, Boitard C, Noël LH, Velho G, Timsit J.
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| Ann Intern Med 140(7):510-7. 2004
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| 28 | RCAD, MODY5, HNF1B
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| Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1beta.
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| Bingham C, Hattersley AT.
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| Nephrol Dial Transplant 19(11):2703-8. Review. No abstract available. 2004
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| 29 | MODY5, HNF1B
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| A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes.
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| Carbone I, Cotellessa M, Barella C, Minetti C, Ghiggeri GM, Caridi G, Perfumo F, Lorini R.
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| Diabetologia 45(1):153-4. No abstract available. 2002
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| 30 | RCAD, HNF1B
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| Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease.
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| Bingham C, Bulman MP, Ellard S, Allen LI, Lipkin GW, Hoff WG, Woolf AS, Rizzoni G, Novelli G, Nicholls AJ, Hattersley AT.
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| Am J Hum Genet 68(1):219-24. 2001
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| 31 | RCAD, HNF1B
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| Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta.
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| Bingham C, Ellard S, Allen L, Bulman M, Shepherd M, Frayling T, Berry PJ, Clark PM, Lindner T, Bell GI, Ryffel GU, Nicholls AJ, Hattersley AT.
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| Kidney Int 57(3):898-907. 2000
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| 32 | HNF1B, MODY5
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| A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta.
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| Lindner TH, et al.
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| Hum Mol Genet 8(11):2001-8 1999
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| 33 | HNF1A, HNF1B
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| Human insulin gene is a target gene of hepatocyte nuclear factor-1alpha (HNF-1alpha) and HNF-1beta.
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| Okita K, Yang Q, Yamagata K, Hangenfeldt KA, Miyagawa J, Kajimoto Y, Nakajima H, Namba M, Wollheim CB, Hanafusa T, Matsuzawa Y.
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| Biochem Biophys Res Commun 263(2):566-9. 1999
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| 34 | MODY5, HNF1B
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| Frameschift mutation, A263fsinsGG, in the hepatocyte nuclear factor-1beta gene associated with diabetes and renal dysfunction.
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| Nishigori H, et al.
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| Diabetes 47 : 1354-1355. 1998
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| 35 | RCAD, HNF1B
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| Frameshift mutation, A263fsinsGG, in the hepatocyte nuclear factor-1beta gene associated with diabetes and renal dysfunction.
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| Nishigori H, Yamada S, Kohama T, Tomura H, Sho K, Horikawa Y, Bell GI, Takeuchi T, Takeda J.
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| Diabetes 47(8):1354-5. No abstract available. 1998
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| 36 | MODY5, HNF1B
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| Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY.
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| Horikawa Y, et al.
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| Nat Genet 17 : 384-385. 1997
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| 37 | HNF1B
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| TCF2, the gene for hepatocyte nuclear factor-1 beta, confirmed on human chromosome 17 and mapped to mouse chromosome 11 by Southern blot analysis of somatic cell hybrids.
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| Milatovich A, et al.
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| (HGM11) Cytogenet Cell Genet 58 : 2007. 1991
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| 38 | HNF1A, HNF1B
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| Two members of an HNF1 homeoprotein family are expressed in human liver.
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| Bach I, et al.
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| Nucleic Acids Res 19 : 3553-3559. 1991
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| 39 | HNF1A, HNF1B
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| HNF-1 alpha and HNF-1 beta (vHNF-1) share dimerization and homeo domains, but not activation domains, and form heterodimers in vitro.
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| Mendel DB, Hansen LP, Graves MK, Conley PB, Crabtree GR.
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| Genes Dev 5(6):1042-56. 1991
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| 40 | HNF1B
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| Mapping of the gene TCF2 coding for the transcription factor LFB3 to human chromosome 17 by polymerase chain reaction.
|
| Abbott C, et al.
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| Genomics 8 : 165-167. 1990
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| 41 | HNF1A, HNF1B
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| Two different liver-specific factors stimulate in vitro transcription from the human alpha-1-antitrypsin promoter.
|
| Monaci P, et al.
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| EMBO J 7 : 2075-2087. 1988
|