-
1
-
-
0024061257
-
A liver-specific factor essential for albumin transcription differs between differentiated and dedifferentiated rat hepatoma cells
-
Cereghini S., Blumenfeld M., Yaniv M. A liver-specific factor essential for albumin transcription differs between differentiated and dedifferentiated rat hepatoma cells. Genes Dev. 1988, 2:957-974.
-
(1988)
Genes Dev.
, vol.2
, pp. 957-974
-
-
Cereghini, S.1
Blumenfeld, M.2
Yaniv, M.3
-
2
-
-
0025949056
-
Hepatic nuclear factor 1 (HNF1) shows a wider distribution than products of its known target genes in developing mouse
-
Blumenfeld M., Maury M., Chouard T., Yaniv M., Condamine H. Hepatic nuclear factor 1 (HNF1) shows a wider distribution than products of its known target genes in developing mouse. Development 1991, 113:589-599.
-
(1991)
Development
, vol.113
, pp. 589-599
-
-
Blumenfeld, M.1
Maury, M.2
Chouard, T.3
Yaniv, M.4
Condamine, H.5
-
3
-
-
0026558715
-
LFB1 and LFB3 homeoproteins are sequentially expressed during kidney development
-
Lazzaro D., De Simone V., De Magistris L., Lehtonen E., Cortese R. LFB1 and LFB3 homeoproteins are sequentially expressed during kidney development. Development 1992, 114:469-479.
-
(1992)
Development
, vol.114
, pp. 469-479
-
-
Lazzaro, D.1
De Simone, V.2
De Magistris, L.3
Lehtonen, E.4
Cortese, R.5
-
4
-
-
2142659368
-
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., Igarashi P. 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
McNally, B.T.4
Sinclair, A.M.5
Tian, X.6
Somlo, S.7
Igarashi, P.8
-
5
-
-
2342508500
-
A transcriptional network in polycystic kidney disease
-
Gresh L., Fischer E., Reimann A., Tanguy M., Garbay S., Shao X., Hiesberger T., Fiette L., Igarashi P., Yaniv M., Pontoglio M. 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
Tanguy, M.4
Garbay, S.5
Shao, X.6
Hiesberger, T.7
Fiette, L.8
Igarashi, P.9
Yaniv, M.10
Pontoglio, M.11
-
6
-
-
38049144145
-
Mutations of HNF-1beta inhibit epithelial morphogenesis through dysregulation of SOCS-3
-
Ma Z., Gong Y., Patel V., Karner C.M., Fischer E., Hiesberger T., Carroll T.J., Pontoglio M., Igarashi P. Mutations of HNF-1beta inhibit epithelial morphogenesis through dysregulation of SOCS-3. Proc. Natl. Acad. Sci. USA 2007, 104:20386-20391.
-
(2007)
Proc. Natl. Acad. Sci. USA
, vol.104
, pp. 20386-20391
-
-
Ma, Z.1
Gong, Y.2
Patel, V.3
Karner, C.M.4
Fischer, E.5
Hiesberger, T.6
Carroll, T.J.7
Pontoglio, M.8
Igarashi, P.9
-
7
-
-
33747882568
-
Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1beta/MODY5 mutations
-
Haumaitre C., Fabre M., Cormier S., Baumann C., Delezoide A.L., Cereghini S. Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1beta/MODY5 mutations. Hum. Mol. Genet. 2006, 15:2363-2375.
-
(2006)
Hum. Mol. Genet.
, vol.15
, pp. 2363-2375
-
-
Haumaitre, C.1
Fabre, M.2
Cormier, S.3
Baumann, C.4
Delezoide, A.L.5
Cereghini, S.6
-
8
-
-
0031453186
-
Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY
-
Horikawa Y., Iwasaki N., Hara M., Furuta H., Hinokio Y., Cockburn B.N., Lindner T., Yamagata K., Ogata M., Tomonaga O., Kuroki H., Kasahara T., Iwamoto Y., Bell G.I. Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY. Nat. Genet. 1997, 17:384-385.
-
(1997)
Nat. Genet.
, vol.17
, pp. 384-385
-
-
Horikawa, Y.1
Iwasaki, N.2
Hara, M.3
Furuta, H.4
Hinokio, Y.5
Cockburn, B.N.6
Lindner, T.7
Yamagata, K.8
Ogata, M.9
Tomonaga, O.10
Kuroki, H.11
Kasahara, T.12
Iwamoto, Y.13
Bell, G.I.14
-
9
-
-
0041342009
-
Distinct molecular and morphogenetic properties of mutations in the human HNF1beta gene that lead to defective kidney development
-
Bohn S., Thomas H., Turan G., Ellard S., Bingham C., Hattersley A.T., Ryffel G.U. Distinct molecular and morphogenetic properties of mutations in the human HNF1beta gene that lead to defective kidney development. J. Am. Soc. Nephrol. 2003, 14:2033-2041.
-
(2003)
J. Am. Soc. Nephrol.
, vol.14
, pp. 2033-2041
-
-
Bohn, S.1
Thomas, H.2
Turan, G.3
Ellard, S.4
Bingham, C.5
Hattersley, A.T.6
Ryffel, G.U.7
-
10
-
-
77951234805
-
HNF1B alterations associated with congenital anomalies of the kidney and urinary tract
-
Nakayama M., Nozu K., Goto Y., Kamei K., Ito S., Sato H., Emi M., Nakanishi K., Tsuchiya S., Iijima K. 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
Kamei, K.4
Ito, S.5
Sato, H.6
Emi, M.7
Nakanishi, K.8
Tsuchiya, S.9
Iijima, K.10
-
11
-
-
77953343713
-
Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases
-
Heidet L., Decramer S., Pawtowski A., Moriniere V., Bandin F., Knebelmann B., Lebre A.S., Faguer S., Guigonis V., Antignac C., Salomon R. 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
Moriniere, V.4
Bandin, F.5
Knebelmann, B.6
Lebre, A.S.7
Faguer, S.8
Guigonis, V.9
Antignac, C.10
Salomon, R.11
-
12
-
-
65649146156
-
HNF1B mutations associate with hypomagnesemia and renal magnesium wasting
-
Adalat S., Woolf A.S., Johnstone K.A., Wirsing A., Harries L.W., Long D.A., Hennekam R.C., Ledermann S.E., Rees L., van't Hoff W., Marks S.D., Trompeter R.S., Tullus K., Winyard P.J., Cansick J., Mushtaq I., Dhillon H.K., Bingham C., Edghill E.L., Shroff R., Stanescu H., Ryffel G.U., Ellard S., Bockenhauer D. 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
Wirsing, A.4
Harries, L.W.5
Long, D.A.6
Hennekam, R.C.7
Ledermann, S.E.8
Rees, L.9
van't Hoff, W.10
Marks, S.D.11
Trompeter, R.S.12
Tullus, K.13
Winyard, P.J.14
Cansick, J.15
Mushtaq, I.16
Dhillon, H.K.17
Bingham, C.18
Edghill, E.L.19
Shroff, R.20
Stanescu, H.21
Ryffel, G.U.22
Ellard, S.23
Bockenhauer, D.24
more..
-
13
-
-
0347683487
-
2+ absorption
-
2+ absorption. J. Biol. Chem. 2004, 279:19-25.
-
(2004)
J. Biol. Chem.
, vol.279
, pp. 19-25
-
-
Voets, T.1
Nilius, B.2
Hoefs, S.3
van der Kemp, A.W.4
Droogmans, G.5
Bindels, R.J.6
Hoenderop, J.G.7
-
16
-
-
0033763089
-
+-ATPase gamma-subunit
-
+-ATPase gamma-subunit. Nat. Genet. 2000, 26:265-266.
-
(2000)
Nat. Genet.
, vol.26
, pp. 265-266
-
-
Meij, I.C.1
Koenderink, J.B.2
van Bokhoven, H.3
Assink, K.F.4
Groenestege, W.T.5
de Pont, J.J.6
Bindels, R.J.7
Monnens, L.A.8
van den Heuvel, L.P.9
Knoers, N.V.10
-
20
-
-
0037104767
-
In vivo labeling of parvalbumin-positive interneurons and analysis of electrical coupling in identified neurons
-
Meyer A.H., Katona I., Blatow M., Rozov A., Monyer H. In vivo labeling of parvalbumin-positive interneurons and analysis of electrical coupling in identified neurons. J. Neurosci. 2002, 22:7055-7064.
-
(2002)
J. Neurosci.
, vol.22
, pp. 7055-7064
-
-
Meyer, A.H.1
Katona, I.2
Blatow, M.3
Rozov, A.4
Monyer, H.5
-
21
-
-
0035662188
-
Distribution of transcellular calcium and sodium transport pathways along mouse distal nephron
-
Loffing J., Loffing-Cueni D., Valderrabano V., Klausli L., Hebert S.C., Rossier B.C., Hoenderop J.G., Bindels R.J., Kaissling B. Distribution of transcellular calcium and sodium transport pathways along mouse distal nephron. Am. J. Physiol. Renal Physiol. 2001, 281:F1021-F1027.
-
(2001)
Am. J. Physiol. Renal Physiol.
, vol.281
-
-
Loffing, J.1
Loffing-Cueni, D.2
Valderrabano, V.3
Klausli, L.4
Hebert, S.C.5
Rossier, B.C.6
Hoenderop, J.G.7
Bindels, R.J.8
Kaissling, B.9
-
23
-
-
28444479802
-
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 G.U. Identification of target genes of the transcription factor HNF1beta and HNF1alpha in a human embryonic kidney cell line. Biochem. Biophys. Acta 2005, 1731:179-190.
-
(2005)
Biochem. Biophys. Acta
, vol.1731
, pp. 179-190
-
-
Senkel, S.1
Lucas, B.2
Klein-Hitpass, L.3
Ryffel, G.U.4
-
24
-
-
0029853919
-
Localization and regulation by vitamin D of calcium transport proteins in rabbit cortical collecting system
-
Van Baal J., Yu A., Hartog A., Fransen J.A., Willems P.H., Lytton J., Bindels R.J. Localization and regulation by vitamin D of calcium transport proteins in rabbit cortical collecting system. Am. J. Physiol. 1996, 271:F985-F993.
-
(1996)
Am. J. Physiol.
, vol.271
-
-
Van Baal, J.1
Yu, A.2
Hartog, A.3
Fransen, J.A.4
Willems, P.H.5
Lytton, J.6
Bindels, R.J.7
-
26
-
-
0037388490
-
2+ channels (TRPV5 and TRPV6) requires association of the S100A10-annexin 2 complex
-
2+ channels (TRPV5 and TRPV6) requires association of the S100A10-annexin 2 complex. EMBO J. 2003, 22:1478-1487.
-
(2003)
EMBO J.
, vol.22
, pp. 1478-1487
-
-
van de Graaf, S.F.1
Hoenderop, J.G.2
Gkika, D.3
Lamers, D.4
Prenen, J.5
Rescher, U.6
Gerke, V.7
Staub, O.8
Nilius, B.9
Bindels, R.J.10
-
27
-
-
27944442063
-
The position of premature termination codons in the hepatocyte nuclear factor-1 beta gene determines susceptibility to nonsense-mediated decay
-
Harries L.W., Bingham C., Bellanne-Chantelot C., Hattersley A.T., Ellard S. The position of premature termination codons in the hepatocyte nuclear factor-1 beta gene determines susceptibility to nonsense-mediated decay. Hum. Genet. 2005, 118:214-224.
-
(2005)
Hum. Genet.
, vol.118
, pp. 214-224
-
-
Harries, L.W.1
Bingham, C.2
Bellanne-Chantelot, C.3
Hattersley, A.T.4
Ellard, S.5
-
29
-
-
0034674066
-
+-ATPase. Identification by mass spectrometry, antibody binding, and expression in cultured cells
-
+-ATPase. Identification by mass spectrometry, antibody binding, and expression in cultured cells. J. Biol. Chem. 2000, 275:18441-18446.
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 18441-18446
-
-
Kuster, B.1
Shainskaya, A.2
Pu, H.X.3
Goldshleger, R.4
Blostein, R.5
Mann, M.6
Karlish, S.J.7
-
30
-
-
65249096581
-
A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia
-
Glaudemans B., van der Wijst J., Scola R.H., Lorenzoni P.J., Heister A., van der Kemp A.W., Knoers N.V., Hoenderop J.G., Bindels R.J. A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia. J. Clin. Invest. 2009, 119:936-942.
-
(2009)
J. Clin. Invest.
, vol.119
, pp. 936-942
-
-
Glaudemans, B.1
van der Wijst, J.2
Scola, R.H.3
Lorenzoni, P.J.4
Heister, A.5
van der Kemp, A.W.6
Knoers, N.V.7
Hoenderop, J.G.8
Bindels, R.J.9
-
31
-
-
65249156553
-
Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10
-
Scholl U.I., Choi M., Liu T., Ramaekers V.T., Hausler M.G., Grimmer J., Tobe S.W., Farhi A., Nelson-Williams C., Lifton R.P. Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. Proc. Natl. Acad. Sci. USA 2009, 106:5842-5847.
-
(2009)
Proc. Natl. Acad. Sci. USA
, vol.106
, pp. 5842-5847
-
-
Scholl, U.I.1
Choi, M.2
Liu, T.3
Ramaekers, V.T.4
Hausler, M.G.5
Grimmer, J.6
Tobe, S.W.7
Farhi, A.8
Nelson-Williams, C.9
Lifton, R.P.10
-
32
-
-
49949110312
-
Human FXYD2 G41R mutation responsible for renal hypomagnesemia behaves as an inward-rectifying cation channel
-
Sha Q., Pearson W., Burcea L.C., Wigfall D.A., Schlesinger P.H., Nichols C.G., Mercer R.W. Human FXYD2 G41R mutation responsible for renal hypomagnesemia behaves as an inward-rectifying cation channel. Am. J. Physiol. Renal Physiol. 2008, 295:F91-F99.
-
(2008)
Am. J. Physiol. Renal Physiol.
, vol.295
-
-
Sha, Q.1
Pearson, W.2
Burcea, L.C.3
Wigfall, D.A.4
Schlesinger, P.H.5
Nichols, C.G.6
Mercer, R.W.7
|