1) Mendel DB, Hansen LP, Graves MK, et al. HNF-1α and HNF-1β(vHNF-1) share dimerization and homeo domains, but not activation domains, and form heterodimers in vitro. Genes Dev. 1991; 5: 1042-56
|
|
|
2) Rey-Campos J, Chouard T, Yaniv M, et al. vHNF1 is a homeoprotein that activates transcription and forms heterodimers with HNF1. EMBO J. 1991; 10: 1445-57
|
|
|
3) Cereghini S. Liver-enriched transcription factors and hepatocyte differentiation. FASEB J. 1996; 10: 267-82
|
|
|
4) Igarashi P, Shao X, McNally BT, et al. Roles of HNF-1β in kidney development and congenital cystic diseases. Kidney Int. 2005; 68: 1944-7
|
|
|
5) Horikawa Y, Iwasaki N, Hara M, et al. Mutation in hepatocyte nuclear factor-1β gene (TCF2) associated with MODY. Nat Genet. 1997; 17: 384-5
|
|
|
6) Tattersall RB, Fajans SS. A difference between the inheritance of classical juvenile-onset and maturity-onset type diabetes of young people. Diabetes. 1975; 24: 44-53
|
|
|
7) Bellanné-Chantelot C, Chauveau D, Gautier JF, et al. Clinical spectrum associated with hepatocyte nuclear factor-1β mutations. Ann Intern Med. 2004; 140: 510-7
|
|
|
8) Bingham C, Hattersley AT. Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1β. Nephrol Dial Transplant. 2004; 19: 2703-8
|
|
|
9) Edghill EL, Bingham C, Ellard S, et al. Mutations in hepatocyte nuclear factor-1β and their related phenotypes. J Med Genet. 2006; 43: 84-90
|
|
|
10) Pope JC 4th, Brock JW 3rd, Adams MC, et al. How they begin and how they end: classic and new theories for the development and deterioration of congenital anomalies of the kidney and urinary tract, CAKUT. J Am Soc Nephrol. 1999; 10: 2018-28
|
|
|
11) Decramer S, Parant O, Beaufils S, et al. Anomalies of the TCF2 gene are the main cause of fetal bilateral hyperechogenic kidneys. J Am Soc Nephrol. 2007; 18: 923-33
|
|
|
12) Ulinski T, Lescure S, Beaufils S, et al. Renal phenotypes related to hepatocyte nuclear factor-1β (TCF2) mutations in a pediatric cohort. J Am Soc Nephrol. 2006; 17: 497-503
|
|
|
13) Weber S, Moriniere V, Knüppel T, et al. Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study. J Am Soc Nephrol. 2006; 17: 2864-70
|
|
|
14) Lindner TH, Njolstad PR, Horikawa Y, et al. 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-1β. Hum Mol Genet. 1999; 8: 2001-8
|
|
|
15) Bingham C, Ellard S, Allen L, et al. Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1β. Kidney Int. 2000; 57: 898-907
|
|
|
16) Bingham C, Bulman MP, Ellard S, et al. Mutations in the hepatocyte nuclear factor-1β gene are associated with familial hypoplastic glomerulocystic kidney disease. Am J Hum Genet. 2001; 68: 219-24
|
|
|
17) Bingham C, Ellard S, Cole TR, et al. Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1β mutations. Kidney Int. 2002; 61: 1243-51
|
|
|
18) Bingham C, Ellard S, van't Hoff WG, et al. Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1β gene mutation. Kidney Int. 2003; 63: 1645-51
|
|
|
19) Adalat S, Woolf AS, Johnstone KA, et al. HNF1B mutations associate with hypomagnesemia and renal magnesium wasting. J Am Soc Nephrol. 2009; 20: 1123-31
|
|
|
20) Iwasaki N, Okabe I, Momoi MY, et al. Splice site mutation in the hepatocyte nuclear factor-1β gene, IVS2nt+1G>A, associated with maturity-onset diabetes of the young, renal dysplasia and bicornuate uterus. Diabetologia. 2001; 44: 387-8
|
|
|
21) Montoli A, Colussi G, Massa O, et al. Renal cysts and diabetes syndrome linked to mutations of the hepatocyte nuclear factor-1β gene: description of a new family with associated liver involvement. Am J Kidney Dis. 2002; 40: 397-402
|
|
|
22) Iwasaki N, Ogata M, Tomonaga O, et al. Liver and kidney function in Japanese patients with maturity-onset diabetes of the young. Diabetes Care. 1998; 21: 2144-8
|
|
|
23) Thomas CP, Erlandson JC, Edghill EL, et al. A genetic syndrome of chronic renal failure with multiple renal cysts and early onset diabetes. Kidney Int. 2008; 74: 1094-9
|
|
|
24) Hiesberger T, Bai Y, Shao X, et al. Mutation of hepatocyte nuclear factor-1β inhibits Pkhd1 gene expression and produces renal cysts in mice. J Clin Invest. 2004; 113: 814-25
|
|
|
25) Kitanaka S, Miki Y, Hayashi Y, et al. Promoter-specific repression of hepatocyte nuclear factor (HNF)-1β and HNF-1α transcriptional activity by an HNF-1β missense mutant associated with Type 5 maturity-onset diabetes of the young with hepatic and biliary manifestations. J Clin Endocrinol Metab. 2004; 89: 1369-78
|
|
|
26) Edghill EL, Oram RA, Owens M, et al. Hepatocyte nuclear factor-1β gene deletions-a common cause of renal disease. Nephrol Dial Transplant. 2008; 23: 627-35
|
|
|
27) Müller D, Klopocki E, Neumann LM, et al. A complex phenotype with cystic renal disease. Kidney Int. 2006; 70: 1656-60
|
|
|
28) Mefford HC, Clauin S, Sharp AJ, et al. Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. Am J Hum Genet. 2007; 81: 1057-69
|
|
|
29) Lazzaro D, De Simone V, De Magistris L, et al. LFB1 and LFB3 homeoproteins are sequentially expressed during kidney development. Development. 1992; 114: 469-79
|
|
|
30) Pontoglio M, Barra J, Hadchouel M, et al. Hepatocyte nuclear factor 1 inactivation results in hepatic dysfunction, phenylketonuria, and renal Fanconi syndrome. Cell. 1996; 84: 575-85
|
|
|
31) Coffinier C, Thépot D, Babinet C, et al. Essential role for the homeoprotein vHNF1/HNF1β in visceral endoderm differentiation. Development. 1999; 126: 4785-94
|
|
|
32) Barbacci E, Reber M, Ott MO, et al. Variant hepatocyte nuclear factor 1 is required for visceral endoderm specification. Development. 1999; 126: 4795-805
|
|
|
33) Kolatsi-Joannou M, Bingham C, Ellard S, et al. Hepatocyte nuclear factor-1β: a new kindred with renal cysts and diabetes and gene expression in normal human development. J Am Soc Nephrol. 2001; 12: 2175-80
|
|
|
34) Haumaitre C, Fabre M, Cormier S, et al. Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1β/MODY5 mutations. Hum Mol Genet. 2006; 15: 2363-75
|
|
|
35) Sun Z, Hopkins N. vhnf1, the MODY5 and familial GCKD-associated gene, regulates regional specification of the zebrafish gut, pronephros, and hindbrain. Genes Dev. 2001; 15: 3217-29
|
|
|
36) Bohn S, Thomas H, Turan G, et al. Distinct molecular and morphogenetic properties of mutations in the human HNF1β gene that lead to defective kidney development. J Am Soc Nephrol. 2003; 14: 2033-41
|
|
|
37) Gresh L, Fischer E, Reimann A, et al. A transcriptional network in polycystic kidney disease. EMBO J. 2004; 23: 1657-68
|
|
|
38) Baumhueter S, Courtois G, Crabtree GR. A variant nuclear protein in dedifferentiated hepatoma cells binds to the same functional sequences in the β fibrinogen gene promoter as HNF-1. EMBO J. 1988; 7: 2485-93
|
|
|
39) Bai Y, Pontoglio M, Hiesberger T, et al. Regulation of kidney-specific Ksp-cadherin gene promoter by hepatocyte nuclear factor-1β. Am J Physiol Renal Physiol. 2002; 283: F839-51
|
|
|
40) Ward CJ, Hogan MC, Rossetti S, et al. The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Nat Genet. 2002; 30: 259-69
|
|
|
41) Hiesberger T, Shao X, Gourley E, et al. Role of the hepatocyte nuclear factor-1β (HNF-1β) C-terminal domain in Pkhd1 (ARPKD) gene transcription and renal cystogenesis. J Biol Chem. 2005; 280: 10578-86
|
|
|
42) Ma Z, Gong Y, Patel V, et al. Mutations of HNF-1β inhibit epithelial morphogenesis through dysregulation of SOCS-3. Proc Natl Acad Sci U S A. 2007; 104: 20386-91
|
|
|
43) Zhang Y, Wada J, Yasuhara A, et al. The role for HNF-1β-targeted collectrin in maintenance of primary cilia and cell polarity in collecting duct cells. PLoS One. 2007; 2: e414
|
|
|
44) Dudziak K, Mottalebi N, Senkel S, et al. Transcription factor HNF1β and novel partners affect nephrogenesis. Kidney Int. 2008; 74: 210-7
|
|
|
45) Gong Y, Ma Z, Patel V, et al. HNF-1β regulates transcription of the PKD modifier gene Kif12. J Am Soc Nephrol. 2009; 20: 41-7
|
|
|