메뉴 건너뛰기




Volumn 14, Issue 5, 2005, Pages 603-614

Germline hepatocyte nuclear factor 1α and 1β mutations in renal cell carcinomas

Author keywords

[No Author keywords available]

Indexed keywords

FIBROCYSTIN; HEPATOCYTE NUCLEAR FACTOR 1ALPHA; HEPATOCYTE NUCLEAR FACTOR 1BETA; HEPATOCYTE NUCLEAR FACTOR 4ALPHA; MESSENGER RNA; NUCLEAR FACTOR I; TAMM HORSFALL GLYCOPROTEIN; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

EID: 20044396898     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddi057     Document Type: Article
Times cited : (101)

References (41)
  • 1
    • 0029962261 scopus 로고    scopus 로고
    • Liver-enriched transcription factors and hepatocyte differentiation
    • Cereghini, S. (1996) Liver-enriched transcription factors and hepatocyte differentiation. FASEB J., 10, 267-282.
    • (1996) FASEB J. , vol.10 , pp. 267-282
    • Cereghini, S.1
  • 2
    • 0023628342 scopus 로고
    • Interaction of a liver-specific nuclear factor with the fibrinogen and alpha 1-antitrypsin promoters
    • Courtois, G., Morgan, J.G., Campbell, L.A., Fourel, G. and Crabtree, G.R. (1987) Interaction of a liver-specific nuclear factor with the fibrinogen and alpha 1-antitrypsin promoters. Science, 238 688-692.
    • (1987) Science , vol.238 , pp. 688-692
    • Courtois, G.1    Morgan, J.G.2    Campbell, L.A.3    Fourel, G.4    Crabtree, G.R.5
  • 3
    • 0024452687 scopus 로고
    • 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. and Cortese, R. (1989) The liver-specific transcription factor LF-B1 contains a highly diverged homeobox DNA binding domain. Cell, 59, 145-157.
    • (1989) Cell , vol.59 , pp. 145-157
    • Frain, M.1    Swart, G.2    Monaci, P.3    Nicosia, A.4    Stampfli, S.5    Frank, R.6    Cortese, R.7
  • 4
    • 0023653288 scopus 로고
    • Factors involved in control of tissue-specific expression of albumin gene
    • Cereghini, S., Raymondjean, M., Carranca, A.G., Herbomel, P. and Yaniv, M. (1987) Factors involved in control of tissue-specific expression of albumin gene. Cell, 50, 627-638.
    • (1987) Cell , vol.50 , pp. 627-638
    • Cereghini, S.1    Raymondjean, M.2    Carranca, A.G.3    Herbomel, P.4    Yaniv, M.5
  • 5
    • 0025775278 scopus 로고
    • vHNF1 is a homeoprotein that activates transcription and forms heterodimers with HNF1
    • Rey-Campos, J., Chouard, T., Yaniv, M. and Cereghini, S. (1991) vHNF1 is a homeoprotein that activates transcription and forms heterodimers with HNF1. EMBO J., 10, 1445-1457.
    • (1991) EMBO J. , vol.10 , pp. 1445-1457
    • Rey-Campos, J.1    Chouard, T.2    Yaniv, M.3    Cereghini, S.4
  • 6
    • 0025690311 scopus 로고
    • Liver-enriched transcription factor HNF-4 is a novel member of the steroid hormone receptor superfamily
    • Sladek, F.M., Zhong, W.M., Lai, E. and Darnell, J.E., Jr. (1990) Liver-enriched transcription factor HNF-4 is a novel member of the steroid hormone receptor superfamily. Genes Dev., 4, 2353-2365.
    • (1990) Genes Dev. , vol.4 , pp. 2353-2365
    • Sladek, F.M.1    Zhong, W.M.2    Lai, E.3    Darnell Jr., J.E.4
  • 7
    • 0034090310 scopus 로고    scopus 로고
    • Mammalian hepatocyte differentiation requires the transcription factor HNF-4alpha
    • Li, J., Ning, G. and Duncan, S.A. (2000) Mammalian hepatocyte differentiation requires the transcription factor HNF-4alpha. Genes Dev., 14, 464-474.
    • (2000) Genes Dev. , vol.14 , pp. 464-474
    • Li, J.1    Ning, G.2    Duncan, S.A.3
  • 8
    • 0035960122 scopus 로고    scopus 로고
    • Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young
    • Fajans, S.S., Bell, G.I. and Polonsky, K.S. (2001) Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. N. Engl. J. Med., 345, 971-980.
    • (2001) N. Engl. J. Med. , vol.345 , pp. 971-980
    • Fajans, S.S.1    Bell, G.I.2    Polonsky, K.S.3
  • 12
    • 0033918091 scopus 로고    scopus 로고
    • Diabetes, genes, and kidney development
    • Woolf, A.S. (2000) Diabetes, genes, and kidney development. Kidney Int., 57, 1202-1203.
    • (2000) Kidney Int. , vol.57 , pp. 1202-1203
    • Woolf, A.S.1
  • 16
    • 12144289307 scopus 로고    scopus 로고
    • Hepatocyte nuclear factor-1 alpha gene inactivation: Cosegregation between liver adenomatosis and diabetes phenotypes in two maturity-onset diabetes of the young (MODY)3 families
    • Reznik, Y., Dao, T., Coutant, R., Chiche, L., Jeannot, E., Clauin, S., Rousselot, P., Fabre, M., Oberti, F., Fatome, A. et al. (2004) Hepatocyte nuclear factor-1 alpha gene inactivation: cosegregation between liver adenomatosis and diabetes phenotypes in two maturity-onset diabetes of the young (MODY)3 families. J. Clin. Endocrinol. Metab. 89, 1476-1480.
    • (2004) J. Clin. Endocrinol. Metab. , vol.89 , pp. 1476-1480
    • Reznik, Y.1    Dao, T.2    Coutant, R.3    Chiche, L.4    Jeannot, E.5    Clauin, S.6    Rousselot, P.7    Fabre, M.8    Oberti, F.9    Fatome, A.10
  • 19
    • 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., McNally, B.T., Sinclair, A.M., Tian, X., Somlo, S. and Igarashi, P. (2004) Mutation of hepatocyte nuclear factor-1beta inhibits Pkhd1 gene expression and produces renal cysts in mice. J. Clin. Invest., 113, 814-825.
    • (2004) J. Clin. Invest. , vol.113 , pp. 814-825
    • Hiesberger, T.1    Bai, Y.2    Shao, X.3    McNally, B.T.4    Sinclair, A.M.5    Tian, X.6    Somlo, S.7    Igarashi, P.8
  • 20
    • 0033752712 scopus 로고    scopus 로고
    • Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young
    • Ellard, S. (2000) Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young. Hum. Mutat. 16, 377-385.
    • (2000) Hum. Mutat. , vol.16 , pp. 377-385
    • Ellard, S.1
  • 22
    • 0030853434 scopus 로고    scopus 로고
    • Classification of renal cell carcinoma: Workgroup No. 1
    • Union Internationale Contre le Cancer (UICC) and the American Joint Committee on Cancer (AJCC)
    • Storkel, S., Eble, J.N., Adlakha, K., Amin, M., Blute, M.L., Bostwick, D.G., Darson, M., Delahunt, B. and Iczkowski, K. (1997) Classification of renal cell carcinoma: Workgroup No. 1. Union Internationale Contre le Cancer (UICC) and the American Joint Committee on Cancer (AJCC). Cancer, 80, 987-989.
    • (1997) Cancer , vol.80 , pp. 987-989
    • Storkel, S.1    Eble, J.N.2    Adlakha, K.3    Amin, M.4    Blute, M.L.5    Bostwick, D.G.6    Darson, M.7    Delahunt, B.8    Iczkowski, K.9
  • 23
    • 0023786227 scopus 로고
    • Chromophobe cell renal carcinoma and its variants - A report on 32 cases
    • Thoenes, W., Storkel, S., Rumpelt, H.J., Moll, R., Baum, H.P. and Werner, S. (1988) Chromophobe cell renal carcinoma and its variants - a report on 32 cases. J. Pathol., 155, 277-287.
    • (1988) J. Pathol. , vol.155 , pp. 277-287
    • Thoenes, W.1    Storkel, S.2    Rumpelt, H.J.3    Moll, R.4    Baum, H.P.5    Werner, S.6
  • 24
    • 0029157126 scopus 로고
    • Chromophobe cell renal carcinoma: Clinicopathological features of 50 cases
    • Crotty, T.B., Farrow, G.M. and Lieber, M.M. (1995) Chromophobe cell renal carcinoma: clinicopathological features of 50 cases. J. Urol., 154, 964-967.
    • (1995) J. Urol. , vol.154 , pp. 964-967
    • Crotty, T.B.1    Farrow, G.M.2    Lieber, M.M.3
  • 25
    • 0024496094 scopus 로고
    • The human chromophobe cell renal carcinoma: Its probable relation to intercalated cells of the collecting duct
    • Storkel, S., Steart, P.V., Drenckhahn, D. and Thoenes, W. (1989) The human chromophobe cell renal carcinoma: its probable relation to intercalated cells of the collecting duct. Virchows Arch. B Cell. Pathol. Incl. Mol. Pathol., 56, 237-245.
    • (1989) Virchows Arch. B Cell Pathol. Incl. Mol. Pathol. , vol.56 , pp. 237-245
    • Storkel, S.1    Steart, P.V.2    Drenckhahn, D.3    Thoenes, W.4
  • 26
    • 0031051606 scopus 로고    scopus 로고
    • Specific genetic changes of diagnostic importance in chromophobe renal cell carcinomas
    • Bugert, P., Gaul, C., Weber, K., Herbers, J., Akhtar, M., Ljungberg, B. and Kovacs, G. (1997) Specific genetic changes of diagnostic importance in chromophobe renal cell carcinomas. Lab. Invest., 76, 203-208.
    • (1997) Lab. Invest. , vol.76 , pp. 203-208
    • Bugert, P.1    Gaul, C.2    Weber, K.3    Herbers, J.4    Akhtar, M.5    Ljungberg, B.6    Kovacs, G.7
  • 27
    • 0031038176 scopus 로고    scopus 로고
    • Mutation of the p53 tumour suppressor gene occurs preferentially in the chromophobe type of renal cell tumour
    • Contractor, H., Zariwala, M., Bugert, P., Zeisler, J. and Kovacs, G. (1997) Mutation of the p53 tumour suppressor gene occurs preferentially in the chromophobe type of renal cell tumour. J. Pathol., 181, 136-139.
    • (1997) J. Pathol. , vol.181 , pp. 136-139
    • Contractor, H.1    Zariwala, M.2    Bugert, P.3    Zeisler, J.4    Kovacs, G.5
  • 30
    • 0036286964 scopus 로고    scopus 로고
    • A novel gene encoding a TIG multiple domain protein is a positional candidate for autosomal recessive polycystic kidney disease
    • Xiong, H., Chen, Y., Yi, Y., Tsuchiya, K., Moeckel, G., Cheung, J., Liang, D., Tham, K., Xu, X., Chen, X.Z. et al. (2002) A novel gene encoding a TIG multiple domain protein is a positional candidate for autosomal recessive polycystic kidney disease. Genomics 80, 96-104.
    • (2002) Genomics , vol.80 , pp. 96-104
    • Xiong, H.1    Chen, Y.2    Yi, Y.3    Tsuchiya, K.4    Moeckel, G.5    Cheung, J.6    Liang, D.7    Tham, K.8    Xu, X.9    Chen, X.Z.10
  • 31
    • 18344366124 scopus 로고    scopus 로고
    • PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats
    • Onuchic, L.F., Furu, L., Nagasawa, Y., Hou, X., Eggermann, T., Ren, Z., Bergmann, C., Senderek, J., Esquivel, E., Zeltner, R. et al. (2002) PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats. Am. J. Hum. Genet., 70, 1305-1317.
    • (2002) Am. J. Hum. Genet. , vol.70 , pp. 1305-1317
    • Onuchic, L.F.1    Furu, L.2    Nagasawa, Y.3    Hou, X.4    Eggermann, T.5    Ren, Z.6    Bergmann, C.7    Senderek, J.8    Esquivel, E.9    Zeltner, R.10
  • 33
    • 0037501437 scopus 로고    scopus 로고
    • Aberrant nuclear immunoreactivity for TFE3 in neoplasms with TFE3 gene fusions: A sensitive and specific immunohistochemical assay
    • Argani, P., Lal, P., Hutchinson, B., Lui, M.Y., Reuter, V.E. and Ladanyi, M. (2003) Aberrant nuclear immunoreactivity for TFE3 in neoplasms with TFE3 gene fusions: a sensitive and specific immunohistochemical assay. Am. J. Surg. Pathol., 27, 750-761.
    • (2003) Am. J. Surg. Pathol. , vol.27 , pp. 750-761
    • Argani, P.1    Lal, P.2    Hutchinson, B.3    Lui, M.Y.4    Reuter, V.E.5    Ladanyi, M.6
  • 34
    • 0028198313 scopus 로고
    • Lowered amounts of the tissue-specific transcription factor LFB1 (HNF1) correlate with decreased levels of glutathione S-transferase alpha messenger RNA in human renal cell carcinoma
    • Clairmont, A., Ebert, T., Weber, H., Zoidl, C., Eickelmann, P., Schulz, W.A., Sies, H. and Ryffel, G.U. (1994) Lowered amounts of the tissue-specific transcription factor LFB1 (HNF1) correlate with decreased levels of glutathione S-transferase alpha messenger RNA in human renal cell carcinoma. Cancer Res., 54, 1319-1323.
    • (1994) Cancer Res. , vol.54 , pp. 1319-1323
    • Clairmont, A.1    Ebert, T.2    Weber, H.3    Zoidl, C.4    Eickelmann, P.5    Schulz, W.A.6    Sies, H.7    Ryffel, G.U.8
  • 35
    • 0029937978 scopus 로고    scopus 로고
    • Human renal cell carcinogenesis is accompanied by a coordinate loss of the tissue specific transcription factors HNF4 alpha and HNF1 alpha
    • Sel, S., Ebert, T., Ryffel, G.U. and Drewes, T. (1996) Human renal cell carcinogenesis is accompanied by a coordinate loss of the tissue specific transcription factors HNF4 alpha and HNF1 alpha. Cancer Lett., 101, 205-210.
    • (1996) Cancer Lett. , vol.101 , pp. 205-210
    • Sel, S.1    Ebert, T.2    Ryffel, G.U.3    Drewes, T.4
  • 37
    • 10744222228 scopus 로고    scopus 로고
    • PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells
    • Zhang, M.Z., Mai, W., Li, C., Cho, S.Y., Hao, C., Moeckel, G., Zhao, R., Kim, I., Wang, J., Xiong, H. et al. (2004) PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells. Proc. Natl Acad. Sci. USA, 101, 2311-2316.
    • (2004) Proc. Natl. Acad. Sci. USA , vol.101 , pp. 2311-2316
    • Zhang, M.Z.1    Mai, W.2    Li, C.3    Cho, S.Y.4    Hao, C.5    Moeckel, G.6    Zhao, R.7    Kim, I.8    Wang, J.9    Xiong, H.10
  • 39
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller, S.A., Dykes, D.D. and Polesky, H.F. (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res., 16, 1215.
    • (1988) Nucleic Acids Res. , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 40
    • 0035710746 scopus 로고    scopus 로고
    • Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method
    • Livak, K.J. and Schmittgen, T.D. (2001) Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods, 25, 402-408.
    • (2001) Methods , vol.25 , pp. 402-408
    • Livak, K.J.1    Schmittgen, T.D.2
  • 41
    • 0037435395 scopus 로고    scopus 로고
    • Assumption-free analysis of quantitative real-time polymerase chain reaction (PCR) data
    • Ramakers, C., Ruijter, J.M., Deprez, R.H. and Moorman, A.F. (2003) Assumption-free analysis of quantitative real-time polymerase chain reaction (PCR) data. Neurosci. Lett., 339, 62-66.
    • (2003) Neurosci. Lett. , vol.339 , pp. 62-66
    • Ramakers, C.1    Ruijter, J.M.2    Deprez, R.H.3    Moorman, A.F.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.