-
1
-
-
0008550291
-
Maturity-onset diabetes of the young
-
Hattersley AT (1996) Maturity-onset diabetes of the young. Baillieres Clin Paediatr 4:663-680
-
(1996)
Baillieres Clin Paediatr
, vol.4
, pp. 663-680
-
-
Hattersley, A.T.1
-
2
-
-
0035960122
-
Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young
-
Fajans SS, Bell GI, Polonsky KS (2001) Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. New Engl J Med 345:971-978
-
(2001)
New Engl J Med
, vol.345
, pp. 971-978
-
-
Fajans, S.S.1
Bell, G.I.2
Polonsky, K.S.3
-
3
-
-
0025892211
-
HNF-1 alpha and HNF-1 beta (vHNF-1) share dimerisation and homeo domain, but not activation domains, and form heterodimers in vitro
-
Mendel DB, Hansen LP, Graves MK, Conley PB, Crabtree GR (1991) HNF-1 alpha and HNF-1 beta (vHNF-1) share dimerisation and homeo domain, but not activation domains, and form heterodimers in vitro. Genes Dev 5:1042-1056
-
(1991)
Genes Dev
, vol.5
, pp. 1042-1056
-
-
Mendel, D.B.1
Hansen, L.P.2
Graves, M.K.3
Conley, P.B.4
Crabtree, G.R.5
-
4
-
-
0025775278
-
vHNF1 is a homeoprotein that activates transcription and forms heterodimers with HNF1
-
Rey-Campos J, Chouard T, Yaniv M, 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
-
5
-
-
0026558715
-
LFB1 and LFB3 homeoproteins are sequentially expressed during kidney development
-
Lazzaro D, De Simone V, De Magistris L, Lehtonen E, Cortese R (1992) LFB1 and LFB3 homeoproteins are sequentially expressed during kidney development. Development 114:469
-
(1992)
Development
, vol.114
, pp. 469
-
-
Lazzaro, D.1
De Simone, V.2
De Magistris, L.3
Lehtonen, E.4
Cortese, R.5
-
6
-
-
0033600787
-
Human insulin gene is a target gene of hepatocyte nuclear factor-1alpha (HNF-1alpha) and HNF-1beta
-
Okita K, Yang Q, Yamagata K, Hangenfeldt KA, Miyagawa J, Kajimoto Y, Nakajima H, Namba M, Wollheim CB, Hanafusa T, Matsuzawa Y (1999) Human insulin gene is a target gene of hepatocyte nuclear factor-1alpha (HNF-1alpha) and HNF-1beta. Biochem Biophys Res Commun 263:566-569
-
(1999)
Biochem Biophys Res Commun
, vol.263
, pp. 566-569
-
-
Okita, K.1
Yang, Q.2
Yamagata, K.3
Hangenfeldt, K.A.4
Miyagawa, J.5
Kajimoto, Y.6
Nakajima, H.7
Namba, M.8
Wollheim, C.B.9
Hanafusa, T.10
Matsuzawa, Y.11
-
7
-
-
0031453186
-
Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY
-
Horikawa Y, Iwasaki N, Kara M, Furuta H, Hinokio Y, Cockburn BN, Lindner T, Yamagata K, Ogata M, Tomonaga O, Kuroki H, Kasahara T, Iwamoto Y, Bell GI (1997) Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY. Nat Genet 17:384-385
-
(1997)
Nat Genet
, vol.17
, pp. 384-385
-
-
Horikawa, Y.1
Iwasaki, N.2
Kara, 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
-
8
-
-
0035166810
-
Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease
-
Bingham C, Bulman MP, Ellard S, Allen LI, Lipkin GW, Hoff WG, Woolf AS, Rizzoni G, Novelli G, Nicholls AJ, Hattersley AT (2001) Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease. Am J Hum Genet 68:219-224
-
(2001)
Am J Hum Genet
, vol.68
, pp. 219-224
-
-
Bingham, C.1
Bulman, M.P.2
Ellard, S.3
Allen, L.I.4
Lipkin, G.W.5
Hoff, W.G.6
Woolf, A.S.7
Rizzoni, G.8
Novelli, G.9
Nicholls, A.J.10
Hattersley, A.T.11
-
9
-
-
0031848798
-
Frameshift mutation, A263fsinsGG, in the hepatocyte nuclear factor-1beta gene associated with diabetes and renal dysfunction
-
Nishigori H, Yamada S, Kohama T, Tomura H, Sho K, Horikawa Y, Bell GI, Takeuchi T, Takeda J (1998) Frameshift mutation, A263fsinsGG, in the hepatocyte nuclear factor-1beta gene associated with diabetes and renal dysfunction. Diabetes 47:1354-1355
-
(1998)
Diabetes
, vol.47
, pp. 1354-1355
-
-
Nishigori, H.1
Yamada, S.2
Kohama, T.3
Tomura, H.4
Sho, K.5
Horikawa, Y.6
Bell, G.I.7
Takeuchi, T.8
Takeda, J.9
-
10
-
-
0041677535
-
Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta
-
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 (2000) Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta. Kidney Int 57:898-907
-
(2000)
Kidney Int
, vol.57
, pp. 898-907
-
-
Bingham, C.1
Ellard, S.2
Allen, L.3
Bulman, M.4
Shepherd, M.5
Frayling, T.6
Berry, P.J.7
Clark, P.M.8
Lindner, T.9
Bell, G.I.10
Ryffel, G.U.11
Nicholls, A.J.12
Hattersley, A.T.13
-
11
-
-
0032836391
-
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, Bostad L, Bell GI, Sovik O (1999) 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 8:2001-2008
-
(1999)
Hum Mol Genet
, vol.8
, pp. 2001-2008
-
-
Lindner, T.H.1
Njolstad, P.R.2
Horikawa, Y.3
Bostad, L.4
Bell, G.I.5
Sovik, O.6
-
12
-
-
0036163333
-
Identification of a gain-of-function mutation in the HNF-1beta gene in a Japanese family with MODY
-
Yoshiuchi I, Yamagata K, Zhu Q, Tamada I, Takahashi Y, Onigata K, Takeda J, Miyagawa J, Matsuzawa Y (2002) Identification of a gain-of-function mutation in the HNF-1beta gene in a Japanese family with MODY. Diabetologia 45:154-155
-
(2002)
Diabetologia
, vol.45
, pp. 154-155
-
-
Yoshiuchi, I.1
Yamagata, K.2
Zhu, Q.3
Tamada, I.4
Takahashi, Y.5
Onigata, K.6
Takeda, J.7
Miyagawa, J.8
Matsuzawa, Y.9
-
13
-
-
0036163052
-
A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes
-
Carbone I, Cotellessa M, Barella C, Minetti C, Ghiggeri GM, Caridi G, Perfumo F, Lorini R (2002) A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes. Diabetologia 45:153-154
-
(2002)
Diabetologia
, vol.45
, pp. 153-154
-
-
Carbone, I.1
Cotellessa, M.2
Barella, C.3
Minetti, C.4
Ghiggeri, G.M.5
Caridi, G.6
Perfumo, F.7
Lorini, R.8
-
14
-
-
0035076744
-
Splice site mutation in the hepatocyte nuclear factor-1 beta gene, IVS2nt + IG > A, associated with maturity-onset diabetes of the young, renal dysplasia and bicomuate uterus
-
Iwasaki N, Okabe I, Momoi MY, Ohashi H, Ogata M, Iwamoto Y (2001) Splice site mutation in the hepatocyte nuclear factor-1 beta gene, IVS2nt + IG > A, associated with maturity-onset diabetes of the young, renal dysplasia and bicomuate uterus. Diabetologia 44:387-388
-
(2001)
Diabetologia
, vol.44
, pp. 387-388
-
-
Iwasaki, N.1
Okabe, I.2
Momoi, M.Y.3
Ohashi, H.4
Ogata, M.5
Iwamoto, Y.6
-
15
-
-
0036347934
-
Nonsense and missense mutations in the human hepatocyte nuclear factor-1beta gene (TCF2) and their relation to type 2 diabetes in Japanese
-
Furuta H, Furuta M, Sanke T, Ekawa K, Hanabusa T, Nishi M, Sasaki H, Nanjo K (2002) Nonsense and missense mutations in the human hepatocyte nuclear factor-1beta gene (TCF2) and their relation to type 2 diabetes in Japanese. J Clin Endocrinol Metab 87:3859-3863
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 3859-3863
-
-
Furuta, H.1
Furuta, M.2
Sanke, T.3
Ekawa, K.4
Hanabusa, T.5
Nishi, M.6
Sasaki, H.7
Nanjo, K.8
-
16
-
-
0036329071
-
Renal cysts and diabetes syndrome linked to mutations of the hepatocyte nuclear factor-1beta gene: Description of a new family with associated liver involvement
-
Montoli A, Colussi G, Massa O, Caccia R, Rizzoni G, Civati G, Barbetti F (2002) Renal cysts and diabetes syndrome linked to mutations of the hepatocyte nuclear factor-1beta gene: description of a new family with associated liver involvement. Am J Kidney Dis 40:397-402
-
(2002)
Am J Kidney Dis
, vol.40
, pp. 397-402
-
-
Montoli, A.1
Colussi, G.2
Massa, O.3
Caccia, R.4
Rizzoni, G.5
Civati, G.6
Barbetti, F.7
-
18
-
-
0031748728
-
Mutations in hepatocyte nuclear factor 1beta are not a common cause of maturity-onset diabetes of the young in the U.K.
-
Beards F, Frayling T, Bulman M, Horikawa Y, Allen L, Appleton M, Bell GI, Ellard S, Hattersley AT (1998) Mutations in hepatocyte nuclear factor 1beta are not a common cause of maturity-onset diabetes of the young in the U.K. Diabetes 47:1152-1154
-
(1998)
Diabetes
, vol.47
, pp. 1152-1154
-
-
Beards, F.1
Frayling, T.2
Bulman, M.3
Horikawa, Y.4
Allen, L.5
Appleton, M.6
Bell, G.I.7
Ellard, S.8
Hattersley, A.T.9
-
19
-
-
2142854102
-
Dynamic tests in the clinical management of diabetes
-
Picardi A, Pozzilli P (2003) Dynamic tests in the clinical management of diabetes. J Endocrinol Invest 26[Suppl 7]:99-106
-
(2003)
J Endocrinol Invest
, vol.26
, Issue.SUPPL. 7
, pp. 99-106
-
-
Picardi, A.1
Pozzilli, P.2
-
20
-
-
12944309912
-
The mutated human gene encoding hepatocyte nuclear factor 1β inhibits kidney formation in developing Xenopus embryos
-
Wild W, Pogge von Strandmann E, Nastos A, Senkel S, Lingott-Frieg A, Bulman M, Bingham C, Ellard S, Hattersley AT, Ryffel GU, Nastos A et al (2000) The mutated human gene encoding hepatocyte nuclear factor 1β inhibits kidney formation in developing Xenopus embryos. Proc Natl Acad Sci USA 97:4695-4700
-
(2000)
Proc Natl Acad Sci USA
, vol.97
, pp. 4695-4700
-
-
Wild, W.1
Von Pogge Strandmann, E.2
Nastos, A.3
Senkel, S.4
Lingott-Frieg, A.5
Bulman, M.6
Bingham, C.7
Ellard, S.8
Hattersley, A.T.9
Ryffel, G.U.10
Nastos, A.11
-
21
-
-
0033531957
-
Loss-of-function and dominant-negative mechanisms associated with hepatocyte nuclear factor-1β mutations in familial type 2 diabetes mellitus
-
Tomura H, Nishigori H, Sho K, Yamagata K, Inoue I, Takeda J (1999) Loss-of-function and dominant-negative mechanisms associated with hepatocyte nuclear factor-1β mutations in familial type 2 diabetes mellitus. J Biol Chem 274:12975-12978
-
(1999)
J Biol Chem
, vol.274
, pp. 12975-12978
-
-
Tomura, H.1
Nishigori, H.2
Sho, K.3
Yamagata, K.4
Inoue, I.5
Takeda, J.6
|