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Volumn 30, Issue 5, 2015, Pages 835-842

Criteria for HNF1B analysis in patients with congenital abnormalities of kidney and urinary tract

Author keywords

CAKUT; genetic screening; hepatocyte nuclear factor 1 beta; HNF1 ; renal development

Indexed keywords

HEPATOCYTE NUCLEAR FACTOR 1BETA; HNF1B PROTEIN, HUMAN;

EID: 84929579416     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfu370     Document Type: Article
Times cited : (52)

References (43)
  • 1
    • 84872189289 scopus 로고    scopus 로고
    • Timing and outcome of renal replacement therapy in patients with congenital malformations of the kidney and urinary tract
    • Wuhl E, van Stralen KJ, Verrina E et al. Timing and outcome of renal replacement therapy in patients with congenital malformations of the kidney and urinary tract. Clin J Am Soc Nephrol 2013; 8: 67-74
    • (2013) Clin J Am Soc Nephrol , vol.8 , pp. 67-74
    • Wuhl, E.1    Van Stralen, K.J.2    Verrina, E.3
  • 2
    • 84875904387 scopus 로고    scopus 로고
    • Epigenetic analysis leads to identification of HNF1B as a subtype-specific susceptibility gene for ovarian cancer
    • Shen H, Fridley BL, Song H et al. Epigenetic analysis leads to identification of HNF1B as a subtype-specific susceptibility gene for ovarian cancer. Nat Commun 2013; 4: 1628
    • (2013) Nat Commun , vol.4 , pp. 1628
    • Shen, H.1    Fridley, B.L.2    Song, H.3
  • 3
    • 84896696202 scopus 로고    scopus 로고
    • Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans
    • Vivante A, Kohl S, Hwang DY et al. Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Pediatr Nephrol 2014; 29: 695-704
    • (2014) Pediatr Nephrol , vol.29 , pp. 695-704
    • Vivante, A.1    Kohl, S.2    Hwang, D.Y.3
  • 4
    • 0025892211 scopus 로고
    • 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 et al. 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 1991; 5: 1042-1656
    • (1991) Genes Dev , vol.5 , pp. 1042-1656
    • Mendel, D.B.1    Hansen, L.P.2    Graves, M.K.3
  • 5
    • 0031914679 scopus 로고    scopus 로고
    • Maturity-onset diabetes of the young: Clinical heterogeneity explained by genetic heterogeneity
    • Hattersley AT. Maturity-onset diabetes of the young: clinical heterogeneity explained by genetic heterogeneity. Diabet Med 1998; 15: 15-24
    • (1998) Diabet Med , vol.15 , pp. 15-24
    • Hattersley, A.T.1
  • 6
    • 0032836391 scopus 로고    scopus 로고
    • 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
    • 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-1beta. Hum Mol Genet 1999; 8: 2001-2008
    • (1999) Hum Mol Genet , vol.8 , pp. 2001-2008
    • Lindner, T.H.1    Njolstad, P.R.2    Horikawa, Y.3
  • 7
    • 80052844338 scopus 로고    scopus 로고
    • Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood
    • Faguer S, Decramer S, Chassaing N et al. Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood. Kidney Int 2011; 80: 768-776
    • (2011) Kidney Int , vol.80 , pp. 768-776
    • Faguer, S.1    Decramer, S.2    Chassaing, N.3
  • 8
    • 77953343713 scopus 로고    scopus 로고
    • Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases
    • Heidet L, Decramer S, Pawtowski A et al. Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases. Clin J Am Soc Nephrol 2010; 5: 1079-1090
    • (2010) Clin J Am Soc Nephrol , vol.5 , pp. 1079-1090
    • Heidet, L.1    Decramer, S.2    Pawtowski, A.3
  • 9
    • 84888066181 scopus 로고    scopus 로고
    • A description of a fetal syndrome associated with HNF1B mutation and a wide intrafamilial disease variability
    • Rasmussen M, Ramsing M, Petersen OB et al. A description of a fetal syndrome associated with HNF1B mutation and a wide intrafamilial disease variability. Am J Med Genet A, 2013; 161: 3191-3195
    • (2013) Am J Med Genet A , vol.161 , pp. 3191-3195
    • Rasmussen, M.1    Ramsing, M.2    Petersen, O.B.3
  • 10
    • 33645454942 scopus 로고    scopus 로고
    • Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort
    • Ulinski T, Lescure S, Beaufils S et al. Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort. J Am Soc Nephrol 2006; 17: 497-503
    • (2006) J Am Soc Nephrol , vol.17 , pp. 497-503
    • Ulinski, T.1    Lescure, S.2    Beaufils, S.3
  • 11
    • 77951234805 scopus 로고    scopus 로고
    • HNF1B alterations associated with congenital anomalies of the kidney and urinary tract
    • Nakayama M, Nozu K, Goto Y et al. HNF1B alterations associated with congenital anomalies of the kidney and urinary tract. Pediatr Nephrol 2010; 25: 1073-1079
    • (2010) Pediatr Nephrol , vol.25 , pp. 1073-1079
    • Nakayama, M.1    Nozu, K.2    Goto, Y.3
  • 12
    • 65649146156 scopus 로고    scopus 로고
    • HNF1B mutations associate with hypomagnesemia and renal magnesium wasting
    • Adalat S, Woolf AS, Johnstone KA et al. HNF1B mutations associate with hypomagnesemia and renal magnesium wasting. J Am Soc Nephrol 2009; 20: 1123-1131
    • (2009) J Am Soc Nephrol , vol.20 , pp. 1123-1131
    • Adalat, S.1    Woolf, A.S.2    Johnstone, K.A.3
  • 13
    • 33947237697 scopus 로고    scopus 로고
    • Anomalies of the TCF2 gene are the main cause of fetal bilateral hyperechogenic kidneys
    • 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: 923-933
    • (2007) J Am Soc Nephrol , vol.18 , pp. 923-933
    • Decramer, S.1    Parant, O.2    Beaufils, S.3
  • 14
    • 84879801508 scopus 로고    scopus 로고
    • Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes
    • Madariaga L, Moriniere V, Jeanpierre C et al. Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes. Clin J Am Soc Nephrol 2013; 8: 1179-1187
    • (2013) Clin J Am Soc Nephrol , vol.8 , pp. 1179-1187
    • Madariaga, L.1    Moriniere, V.2    Jeanpierre, C.3
  • 15
    • 0242575908 scopus 로고    scopus 로고
    • Genetic disorders of human congenital anomalies of the kidney and urinary tract (CAKUT)
    • Nakanishi K, Yoshikawa N. Genetic disorders of human congenital anomalies of the kidney and urinary tract (CAKUT). Pediatr Int 2003; 45: 610-616
    • (2003) Pediatr Int , vol.45 , pp. 610-616
    • Nakanishi, K.1    Yoshikawa, N.2
  • 16
    • 62149125881 scopus 로고    scopus 로고
    • New equations to estimate GFR in children with CKD
    • Schwartz GJ, Munoz A, Schneider MF et al. New equations to estimate GFR in children with CKD. J Am Soc Nephrol 2009; 20: 629-637
    • (2009) J Am Soc Nephrol , vol.20 , pp. 629-637
    • Schwartz, G.J.1    Munoz, A.2    Schneider, M.F.3
  • 17
    • 0016916438 scopus 로고
    • Prediction of creatinine clearance from serum creatinine
    • Cockcroft DW, Gault MH. Prediction of creatinine clearance from serum creatinine. Nephron 1976; 16: 31-41
    • (1976) Nephron , vol.16 , pp. 31-41
    • Cockcroft, D.W.1    Gault, M.H.2
  • 18
    • 84908574596 scopus 로고    scopus 로고
    • The HNF1B score is a simple tool to select patients for HNF1B gene analysis
    • Faguer S, Chassaing N, Bandin F et al. The HNF1B score is a simple tool to select patients for HNF1B gene analysis. Kidney Int 2014; 86: 1007-1015
    • (2014) Kidney Int , vol.86 , pp. 1007-1015
    • Faguer, S.1    Chassaing, N.2    Bandin, F.3
  • 19
    • 78650920433 scopus 로고    scopus 로고
    • HNF-1B specifically regulates the transcription of the gamma a-subunit of the Na+/K+-ATPase
    • Ferre S, Veenstra GJ, Bouwmeester R et al. HNF-1B specifically regulates the transcription of the gamma a-subunit of the Na+/K+-ATPase. Biochem Biophys Res Commun 2011; 404: 284-290
    • (2011) Biochem Biophys Res Commun , vol.404 , pp. 284-290
    • Ferre, S.1    Veenstra, G.J.2    Bouwmeester, R.3
  • 20
    • 33644690386 scopus 로고    scopus 로고
    • 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
    • Bellanne-Chantelot C, Clauin S, Chauveau D et al. 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. Diabetes 2005; 54: 3126-3132
    • (2005) Diabetes , vol.54 , pp. 3126-3132
    • Bellanne-Chantelot, C.1    Clauin, S.2    Chauveau, D.3
  • 21
    • 79960080770 scopus 로고    scopus 로고
    • A 17q12 chromosomal duplication associated with renal disease and esophageal atresia
    • Faguer S, Chassaing N, Bandin F et al. A 17q12 chromosomal duplication associated with renal disease and esophageal atresia. Eur J Med Genet 2011; 54: e437-e440
    • (2011) Eur J Med Genet , vol.54 , pp. e437-e440
    • Faguer, S.1    Chassaing, N.2    Bandin, F.3
  • 22
    • 12144286598 scopus 로고    scopus 로고
    • Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations
    • Bellanne-Chantelot C, Chauveau D, Gautier JF et al. Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations. Ann Intern Med 2004; 140: 510-517
    • (2004) Ann Intern Med , vol.140 , pp. 510-517
    • Bellanne-Chantelot, C.1    Chauveau, D.2    Gautier, J.F.3
  • 23
    • 84865536056 scopus 로고    scopus 로고
    • HNF1B deficiency causes ciliary defects in human cholangiocytes
    • Roelandt P, Antoniou A, Libbrecht L et al. HNF1B deficiency causes ciliary defects in human cholangiocytes. Hepatology (Baltimore, MD) 2012; 56: 1178-1181
    • (2012) Hepatology (Baltimore, MD) , vol.56 , pp. 1178-1181
    • Roelandt, P.1    Antoniou, A.2    Libbrecht, L.3
  • 24
    • 84865646316 scopus 로고    scopus 로고
    • Childhood onset diabetes posttransplant in a girl with TCF2 mutation
    • Tudorache E, Sellier-Leclerc AL, Lenoir M et al. Childhood onset diabetes posttransplant in a girl with TCF2 mutation. Pediatr Diabetes 2012; 13: e35-e39
    • (2012) Pediatr Diabetes , vol.13 , pp. e35-e39
    • Tudorache, E.1    Sellier-Leclerc, A.L.2    Lenoir, M.3
  • 25
    • 84920820919 scopus 로고    scopus 로고
    • Variation in HNF1B and obesity may influence prostate cancer risk in African American men: A pilot study
    • Chornokur G, Amankwah EK, Davis SN et al. Variation in HNF1B and obesity may influence prostate cancer risk in African American men: A pilot study. Prostate Cancer 2013; 2013: 384594
    • (2013) Prostate Cancer , vol.2013 , pp. 384594
    • Chornokur, G.1    Amankwah, E.K.2    Davis, S.N.3
  • 26
    • 84876896778 scopus 로고    scopus 로고
    • HNF1b is involved in prostate cancer risk via modulating androgenic hormone effects and coordination with other genes
    • Hu YL, Zhong D, Pang F et al. HNF1b is involved in prostate cancer risk via modulating androgenic hormone effects and coordination with other genes. Genet Mol Res 2013; 12: 1327-1335
    • (2013) Genet Mol Res , vol.12 , pp. 1327-1335
    • Hu, Y.L.1    Zhong, D.2    Pang, F.3
  • 27
    • 84856405619 scopus 로고    scopus 로고
    • HNF1B and endometrial cancer risk: Results from the PAGE study
    • Setiawan VW, Haessler J, Schumacher F et al. HNF1B and endometrial cancer risk: results from the PAGE study. PloS One 2012; 7: e30390
    • (2012) PloS One , vol.7 , pp. e30390
    • Setiawan, V.W.1    Haessler, J.2    Schumacher, F.3
  • 28
    • 84875164246 scopus 로고    scopus 로고
    • Hepatocyte nuclear factor 1beta is a novel prognostic marker independent of the Milan criteria in transplantable hepatocellular carcinoma: A retrospective analysis based on tissue microarrays
    • Shim JH, Lee HC, Han S et al. Hepatocyte nuclear factor 1beta is a novel prognostic marker independent of the Milan criteria in transplantable hepatocellular carcinoma: A retrospective analysis based on tissue microarrays. Liver Transpl 2013; 19: 336-345
    • (2013) Liver Transpl , vol.19 , pp. 336-345
    • Shim, J.H.1    Lee, H.C.2    Han, S.3
  • 29
    • 49649105254 scopus 로고    scopus 로고
    • Lack of pancreatic body and tail in HNF1B mutation carriers
    • Haldorsen IS, Vesterhus M, Raeder H et al. Lack of pancreatic body and tail in HNF1B mutation carriers. Diabet Med 2008; 25: 782-787
    • (2008) Diabet Med , vol.25 , pp. 782-787
    • Haldorsen, I.S.1    Vesterhus, M.2    Raeder, H.3
  • 30
    • 84880657620 scopus 로고    scopus 로고
    • Exocrine pancreatic function in hepatocyte nuclear factor 1beta-maturity-onset diabetes of the young (HNF1B-MODY) is only moderately reduced: Compensatory hypersecretion from a hypoplastic pancreas
    • Tjora E, Wathle G, Erchinger F et al. Exocrine pancreatic function in hepatocyte nuclear factor 1beta-maturity-onset diabetes of the young (HNF1B-MODY) is only moderately reduced: compensatory hypersecretion from a hypoplastic pancreas. Diabet Med 2013; 30: 946-955
    • (2013) Diabet Med , vol.30 , pp. 946-955
    • Tjora, E.1    Wathle, G.2    Erchinger, F.3
  • 31
    • 84892798985 scopus 로고    scopus 로고
    • The genome of the Netherlands: Design, and project goals
    • Boomsma DI, Wijmenga C, Slagboom EP et al. The genome of the Netherlands: design, and project goals. Eur J Hum Genet 2014; 22: 221-227
    • (2014) Eur J Hum Genet , vol.22 , pp. 221-227
    • Boomsma, D.I.1    Wijmenga, C.2    Slagboom, E.P.3
  • 32
    • 44449148289 scopus 로고    scopus 로고
    • Hepatocyte nuclear factor-1beta gene deletions-A common cause of renal disease
    • Edghill EL, Oram RA, Owens M et al. Hepatocyte nuclear factor-1beta gene deletions-A common cause of renal disease. Nephrol Dial Transplant 2008; 23: 627-635
    • (2008) Nephrol Dial Transplant , vol.23 , pp. 627-635
    • Edghill, E.L.1    Oram, R.A.2    Owens, M.3
  • 33
    • 33749241883 scopus 로고    scopus 로고
    • Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: Results of the ESCAPE study
    • Weber S, Moriniere V, Knuppel 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: 2864-2870
    • (2006) J Am Soc Nephrol , vol.17 , pp. 2864-2870
    • Weber, S.1    Moriniere, V.2    Knuppel, T.3
  • 34
    • 73649124593 scopus 로고    scopus 로고
    • VHNF1 functions in distinct regulatory circuits to control ureteric bud branching and early nephrogenesis
    • Lokmane L, Heliot C, Garcia-Villalba P et al. vHNF1 functions in distinct regulatory circuits to control ureteric bud branching and early nephrogenesis. Development 2010; 137: 347-357
    • (2010) Development , vol.137 , pp. 347-357
    • Lokmane, L.1    Heliot, C.2    Garcia-Villalba, P.3
  • 35
    • 84873100793 scopus 로고    scopus 로고
    • Hepatocyte nuclear factor 1beta controls nephron tubular development
    • Massa F, Garbay S, Bouvier R et al. Hepatocyte nuclear factor 1beta controls nephron tubular development. Development 2013; 140: 886-896
    • (2013) Development , vol.140 , pp. 886-896
    • Massa, F.1    Garbay, S.2    Bouvier, R.3
  • 36
    • 0344771681 scopus 로고    scopus 로고
    • Essential role for the homeoprotein vHNF1/HNF1beta in visceral endoderm differentiation
    • Coffinier C, Thepot D, Babinet C et al. Essential role for the homeoprotein vHNF1/HNF1beta in visceral endoderm differentiation. Development 1999; 126: 4785-4794
    • (1999) Development , vol.126 , pp. 4785-4794
    • Coffinier, C.1    Thepot, D.2    Babinet, C.3
  • 37
    • 84896696481 scopus 로고    scopus 로고
    • Hnf1beta and nephron segmentation
    • Naylor RW, Davidson AJ. Hnf1beta and nephron segmentation. Pediatr Nephrol 2014; 29: 659-664
    • (2014) Pediatr Nephrol , vol.29 , pp. 659-664
    • Naylor, R.W.1    Davidson, A.J.2
  • 38
    • 84861586068 scopus 로고    scopus 로고
    • Expression of renal cystic genes in patients with HNF1B mutations
    • Faguer S, Decramer S, Devuyst O et al. Expression of renal cystic genes in patients with HNF1B mutations. Nephron Clin Pract 2012; 120: c71-c78
    • (2012) Nephron Clin Pract , vol.120 , pp. c71-c78
    • Faguer, S.1    Decramer, S.2    Devuyst, O.3
  • 39
    • 2142659368 scopus 로고    scopus 로고
    • Mutation of hepatocyte nuclear factor-1beta inhibits Pkhd1 gene expression and produces renal cysts in mice
    • Hiesberger T, Bai Y, Shao X et al. Mutation of hepatocyte nuclear factor-1beta inhibits Pkhd1 gene expression and produces renal cysts in mice. J Clin Invest 2004; 113: 814-825
    • (2004) J Clin Invest , vol.113 , pp. 814-825
    • Hiesberger, T.1    Bai, Y.2    Shao, X.3
  • 40
    • 84877087434 scopus 로고    scopus 로고
    • HNF-1beta mutation affects PKD2 and SOCS3 expression causing renal cysts and diabetes in MODY5 kindred
    • Mancusi S, La Manna A, Bellini G et al. HNF-1beta mutation affects PKD2 and SOCS3 expression causing renal cysts and diabetes in MODY5 kindred. J Nephrol 2013; 26: 207-212
    • (2013) J Nephrol , vol.26 , pp. 207-212
    • Mancusi, S.1    La Manna, A.2    Bellini, G.3
  • 41
    • 73849092485 scopus 로고    scopus 로고
    • A mitotic transcriptional switch in polycystic kidney disease
    • Verdeguer F, Le Corre S, Fischer E et al. A mitotic transcriptional switch in polycystic kidney disease. Nat Med 2010; 16: 106-110
    • (2010) Nat Med , vol.16 , pp. 106-110
    • Verdeguer, F.1    Le Corre, S.2    Fischer, E.3
  • 42
    • 2342508500 scopus 로고    scopus 로고
    • A transcriptional network in polycystic kidney disease
    • Gresh L, Fischer E, Reimann A et al. A transcriptional network in polycystic kidney disease. EMBO J. 2004; 23: 1657-1668
    • (2004) EMBO J. , vol.23 , pp. 1657-1668
    • Gresh, L.1    Fischer, E.2    Reimann, A.3
  • 43
    • 84896715744 scopus 로고    scopus 로고
    • MicroRNAs: Potential regulators of renal development genes that contribute to CAKUT
    • Marrone AK, Ho J. MicroRNAs: potential regulators of renal development genes that contribute to CAKUT. Pediatr Nephrol 2014; 29: 565-574
    • (2014) Pediatr Nephrol , vol.29 , pp. 565-574
    • Marrone, A.K.1    Ho, J.2


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