-
1
-
-
0342545891
-
Genetic variation in the hepatocyte nuclear factor-3 beta gene (HNF3B) does not contribute to maturity-onset diabetes of the young in French Caucasians
-
(2000)
Diabetes
, vol.49
, pp. 306-308
-
-
Abderrahmani, A.1
Chevre, J.C.2
Otabe, S.3
Chikri, M.4
Hani, E.H.5
Vaxillaire, M.6
Hinokio, Y.7
Horikawa, Y.8
Bell, G.I.9
Froguel, P.10
-
3
-
-
17444442387
-
A novel missense mutation in the homeodomain of the hepatocyte nuclear factor-1 alpha/maturity-onset diabetes of the young 3 in a Japanese early-onset type 2 diabetic patient and time-course of glucose-stimulated insulin secretion
-
(1998)
Diabetes Care
, vol.21
, pp. 1569-1571
-
-
Awata, T.1
Kurihara, S.2
Inoue, K.3
Inoue, I.4
Takei, S.5
Ishii, C.6
Negishi, K.7
Namai, K.8
Kanazawa, Y.9
Kuzuya, T.10
Katayama, S.11
-
7
-
-
0027534203
-
Developmental regulation and tissue distribution of the liver transcription factor LFB1 (HNF1) in Xenopus laevis
-
(1993)
Molecular and Cellular Biology
, vol.13
, pp. 421-431
-
-
Bartkowski, S.1
Zapp, D.2
Weber, H.3
Eberle, G.4
Zoidl, C.5
Senkel, S.6
Klein-Hitpass, L.7
Ryffel, G.U.8
-
9
-
-
0041677535
-
Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta
-
(2000)
Kidney International
, 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
-
10
-
-
0035166810
-
Mutations in the hepatocyte nuclear factor-1 beta gene are associated with familial hypoplastic glomerulocystic kidney disease
-
(2001)
American Journal of Human Genetics
, 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
-
12
-
-
0034730418
-
Analysis of protein dimerization and ligand binding of orphan receptor HNF4 alpha
-
(2000)
Journal of Molecular Biology
, vol.302
, pp. 831-851
-
-
Bogan, A.A.1
Dallas-Yang, Q.2
Ruse M.D., Jr.3
Maeda, Y.4
Jiang, G.5
Nepomuceno, L.6
Scanlan, T.S.7
Cohen, F.E.8
Sladek, F.M.9
-
13
-
-
0030780380
-
An automated fluorescent single-strand conformation polymorphism technique for screening mutations in the hepatocyte nuclear factor-1 alpha gene (maturity-onset diabetes of the young)
-
(1997)
Diabetes
, vol.46
, pp. 2108-2109
-
-
Boutin, P.1
Chevre, J.C.2
Hani, E.H.3
Gomis, R.4
Pardini, V.C.5
Guillausseau, P.J.6
Vaxillaire, M.7
Velho, G.8
Froguel, P.9
-
14
-
-
0033035665
-
Missense mutation Gly574 Ser in the transcription factor HNF-1 alpha is a marker of atypical diabetes mellitus in African-American children
-
(1999)
Diabetologia
, vol.42
, pp. 380-381
-
-
Boutin, P.1
Gresh, L.2
Cisse, A.3
Hara, M.4
Bell, G.5
Babu, S.6
Eisenbarth, G.7
Froguel, P.8
-
16
-
-
0033556695
-
Extinction of alpha1-antitrypsin expression in cell hybrids is independent of HNF1 alpha and HNF4 and involves both promoter and internal DNA sequences
-
(1999)
Nucleic Acids Research
, vol.27
, pp. 1190-1197
-
-
Bulla, G.A.1
-
21
-
-
0029962261
-
Liver-enriched transcription factors and hepatocyte differentiation
-
(1996)
FASEB Journal
, vol.10
, pp. 267-282
-
-
Cereghini, S.1
-
22
-
-
0028148776
-
Disruption of the HNF-4 gene, expressed in visceral endoderm, leads to cell death in embryonic ectoderm and impaired gastrulation of mouse embryos
-
(1994)
Genes and Development
, vol.8
, pp. 2466-2477
-
-
Chen, W.S.1
Manova, K.2
Weinstein, D.C.3
Duncan, S.A.4
Plump, A.S.5
Prezioso, V.R.6
Bachvarova, R.F.7
Darnell J.E., Jr.8
-
24
-
-
17544403804
-
Genetic and clinical characterisation of maturity-onset diabetes of the young in Spanish families
-
(2000)
European Journal of Endocrinology
, vol.142
, pp. 380-386
-
-
Costa, A.1
Bescos, M.2
Velho, G.3
Chevre, J.4
Vidal, J.5
Sesmilo, G.6
Bellane-Chantelot, C.7
Froguel, P.8
Casamitjana, R.9
Rivera-Fillat, F.10
Gomis, R.11
Conget, I.12
-
25
-
-
0032910713
-
UKPDS 31: Hepatocyte nuclear factor-1 alpha (the MODY3 gene) mutations in late onset type II diabetic patients in the United Kingdom United. Kingdom Prospective Diabetes Study
-
(1999)
Diabetologia
, vol.42
, pp. 120-121
-
-
Cox, R.D.1
Southam, L.2
Hashim, Y.3
Horton, V.4
Mehta, Z.5
Taghavi, J.6
Lathrop, M.7
Turner, R.8
-
26
-
-
0033082394
-
RNA surveillanc: Unforeseen consequences for gene expression, inherited genetic disorders and cancer
-
(1999)
Trends in Genetics
, vol.15
, pp. 74-80
-
-
Culbertson, M.R.1
-
31
-
-
0032544741
-
Defective pancreatic beta-cell glycolytic signaling in hepatocyte nuclear factor-1 alpha-deficient mice
-
(1998)
Journal of Biological Chemistry
, vol.273
, pp. 24457-24464
-
-
Dukes, I.D.1
Sreenan, S.2
Roe, M.W.3
Levisetti, M.4
Zhou, Y.P.5
Ostrega, D.6
Bell, G.I.7
Pontoglio, M.8
Yaniv, M.9
Philipson, L.10
Polonsky, K.S.11
-
32
-
-
0031054568
-
Murine gastrulation requires HNF-4 regulated gene expression in the visceral endoderm: Tetraploid rescue of hnf-4(-/-) embryos
-
(1997)
Development
, vol.124
, pp. 279-287
-
-
Duncan, S.A.1
Nagy, A.2
Chan, W.3
-
34
-
-
0033752712
-
Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young
-
(2000)
Human Mutation
, vol.16
, pp. 377-385
-
-
Ellard, S.1
-
35
-
-
0026742624
-
Hepatocyte nuclear factor 1 alpha is expressed in a hamster insulinoma line and transactivates the rat insulin I gene
-
(1992)
PNAS
, vol.89
, pp. 7300-7304
-
-
Emens, L.A.1
Landers, D.W.2
Moss, L.G.3
-
36
-
-
0030662273
-
Human cancer syndromes: Clues to the origin and nature of cancer
-
(1997)
Science
, vol.278
, pp. 1043-1050
-
-
Fearon, E.R.1
-
39
-
-
0035122282
-
Beta-cell genes and diabetes: Molecular and clinical characterisation of mutations in transcription factors
-
(2001)
Diabetes
, vol.50
-
-
Frayling, T.M.1
Evans, J.C.2
Bulman, M.P.3
Pearson, E.4
Allen, L.5
Owen, K.6
Bingham, C.7
Hanneman, M.8
Shepard, M.9
Ellard, S.10
Hattersley, A.T.11
-
42
-
-
0000309667
-
Organization and partial sequence of the hepatocyte nuclear factor-4 alpha/ MODY1 gene and identification of a missense mutation, R127W, in a Japanese family with MODY
-
(1997)
Diabetes
, vol.46
, pp. 1652-1657
-
-
Furuta, H.1
Iwasaki, N.2
Oda, N.3
Hinokio, Y.4
Horikawa, Y.5
Yamagata, K.6
Yano, N.7
Sugahiro, J.8
Ogata, M.9
Ohgawara, H.10
Omori, Y.11
Iwamoto, Y.12
Bell, G.I.13
-
43
-
-
0342905058
-
Identification of seven novel nucleotide variants in the hepatocyte nuclear factor-1 alpha (TCF1) promoter region in MODY patients
-
(2000)
Human Mutation
, vol.15
, pp. 173-180
-
-
Godart, F.1
Chantelot, C.2
Clauin, S.3
Gragnoli, C.4
Abderrahmani, A.5
Blanche, H.6
Boutin, P.7
Chevre, J.C.8
Froguel, P.9
Bailleul, B.10
-
48
-
-
0032006573
-
A missense mutation in hepatocyte nuclear factor-4 alpha, resulting in a reduced transactivation activity, in human late-onset non-insulin-dependent diabetes mellitus
-
(1998)
Journal of Clinical Investigation
, vol.101
, pp. 521-526
-
-
Hani, E.H.1
Suaud, L.2
Boutin, P.3
Chevre, J.C.4
Durand, E.5
Philippi, A.6
Demenais, F.7
Vionnet, N.8
Furuta, H.9
Velho, G.10
Bell, G.I.11
Laine, B.12
Froguel, P.13
-
50
-
-
0031914679
-
Maturity-onset diabetes of the young: Clinical heterogeneity explained by genetic heterogeneity
-
(1998)
Diabetic Medicine
, vol.15
, pp. 15-24
-
-
Hattersley, A.T.1
-
58
-
-
0031453186
-
Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY
-
(1997)
Nature Genetics
, 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
-
62
-
-
0031894649
-
Chronic diabetic complications in patients with MODY3 diabetes
-
(1998)
Diabetologia
, vol.41
, pp. 467-473
-
-
Isomaa, B.1
Henricsson, M.2
Lehto, M.3
Forsblom, C.4
Karanko, S.5
Sarelin, L.6
Haggblom, M.7
Groop, L.8
-
69
-
-
0034650296
-
Naturally occurring mutations in the human HNF4 alpha gene impair the function of the transcription factor to a varying degree
-
(2000)
Nucleic Acids Research
, vol.28
, pp. 430-437
-
-
Lausen, J.1
Thomas, H.2
Lemm, I.3
Bulman, M.4
Borgschulze, M.5
Lingott, A.6
Hattersley, A.T.7
Ryffel, G.U.8
-
71
-
-
0032589072
-
Mutation in the HNF-4 alpha gene affects insulin secretion and triglyceride metabolism
-
(1999)
Diabetes
, vol.48
, pp. 423-425
-
-
Lehto, M.1
Bitzen, P.O.2
Isomaa, B.3
Wipemo, C.4
Wessman, Y.5
Forsblom, C.6
Tuomi, T.7
Taskinen, M.R.8
Groop, L.9
-
72
-
-
0032857518
-
High frequency of mutations in MODY and mitochondrial genes in Scandinavian patients with familial early-onset diabetes
-
(1999)
Diabetologia
, vol.42
, pp. 1131-1137
-
-
Lehto, M.1
Wipemo, C.2
Ivarsson, S.3
Lindgren, C.4
Lipsanen-Nyman, M.5
Weng, J.6
Wibell, L.7
Widen, E.8
Tuomi, T.9
Groop, L.10
-
76
-
-
0030779004
-
Hepatic function in a family with a nonsense mutation (R154X) in the hepatocyte nuclear factor-4 alpha 1/MODY1 gene
-
(1997)
Journal of Clinical Investigation
, vol.100
, pp. 1400-1405
-
-
Lindner, T.1
Gragnoli, C.2
Furuta, H.3
Cockburn, B.N.4
Petzold, C.5
Rietzsch, H.6
Weiss, U.7
Schulze, J.8
Bell, G.I.9
-
80
-
-
0030798068
-
Studies of the genetic variability of the coding region of the hepatocyte nuclear factor-4 alpha in caucasians with maturity onset NIDDM
-
(1997)
Diabetologia
, vol.40
, pp. 980-983
-
-
Moller, A.M.1
Urhammer, S.A.2
Dalgaard, L.T.3
Reneland, R.4
Berglund, L.5
Hansen, T.6
Clausen, J.O.7
Lithell, H.8
Pedersen, O.9
-
85
-
-
0031848798
-
Frameshift mutation, A263 fsinsGG, in the hepatocyte nuclear factor-1 beta gene associated with diabetes and renal dysfunction
-
(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
-
86
-
-
0033574663
-
A unified nomenclature system for the nuclear receptor superfamily
-
Nuclear Receptors Nomenclature Committee
-
(1999)
Cell
, vol.97
, pp. 161-163
-
-
-
87
-
-
0033600787
-
Human insulin gene is a target gene of hepatocyte nuclear factor-1 alpha (HNF-1 alpha) and HNF-1 beta
-
(1999)
Biochemical and Biophysical Research Communications
, 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
-
90
-
-
0030031453
-
Hepatocyte nuclear factor 1 inactivation results in hepatic dysfunction, phenylketonuria, and renal Fanconi syndrome
-
(1996)
Cell
, vol.84
, pp. 575-585
-
-
Pontoglio, M.1
Barra, J.2
Hadchouel, M.3
Doyen, A.4
Kress, C.5
Bach, J.P.6
Babinet, C.7
Yaniv, M.8
-
92
-
-
18144452590
-
Defective insulin secretion in hepatocyte nuclear factor 1 alpha-deficient mice
-
(1998)
Journal of Clinical Investigation
, vol.101
, pp. 2215-2222
-
-
Pontoglio, M.1
Sreenan, S.2
Roe, M.3
Pugh, W.4
Ostrega, D.5
Doyen, A.6
Pick, A.J.7
Baldwin, A.8
Velho, G.9
Froguel, P.10
Levisetti, M.11
Bonner-Weir, S.12
Bell, G.I.13
Yaniv, M.14
Polonsky, K.S.15
-
93
-
-
0034304925
-
HNF1 alpha controls renal glucose reabsorption in mouse and man
-
(2001)
EMBO Reports
, vol.1
, pp. 359-365
-
-
Pontoglio, M.1
Prie, D.2
Cheret, C.3
Doyen, A.4
Leroy, C.5
Froguel, P.6
Velho, G.7
Yaniv, M.8
Friedlander, G.9
-
96
-
-
0033803582
-
Variants in the hepatocyte nuclear factor-1 alpha and -4 alpha genes in Finnish and Chinese subjects with late-onset type 2 diabetes
-
(2000)
Diabetes Care
, vol.23
, pp. 1533-1538
-
-
Rissanen, J.1
Wang, H.2
Miettinen, R.3
Karkkainen, P.4
Kekalainen, P.5
Mykkanen, L.6
Kuusisto, J.7
Karhapaa, P.8
Niskanen, L.9
Uusitupa, M.10
Laakso, M.11
-
97
-
-
0033621124
-
The HNF-4/HNF-1 alpha transactivation cascade regulates gene activity and chromatin structure of the human serine protease inhibitor gene cluster at 14q32.1
-
(1999)
PNAS
, vol.96
, pp. 10308-10313
-
-
Rollini, P.1
Fournier, R.E.2
-
103
-
-
0034035239
-
Genotype/phenotype relationships in HNF-4 alpha/MODY1: Haploinsufficiency is associated with reduced apolipoprotein (AH), apolipoprotein (CHI), lipoprotein (a), and triglyceride levels
-
(2000)
Diabetes
, vol.49
, pp. 832-837
-
-
Shih, D.Q.1
Dansky, H.M.2
Fleisher, M.3
Assmann, G.4
Fajans, S.S.5
Stoffel, M.6
-
107
-
-
0030695445
-
The maturity-onset diabetes of the young (MODY1) transcription factor HNF4 alpha regulates expression of genes required for glucose transport and metabolism
-
(1997)
PNAS
, vol.94
, pp. 13209-13214
-
-
Stoffel, M.1
Duncan, S.A.2
-
108
-
-
0032941790
-
Functional study of the E276Q mutant hepatocyte nuclear factor-4 alpha found in type 1 maturity-onset diabetes of the young: Impaired synergy with chicken ovalbumin upstream promoter transcription factor II on the factor-1 promoter
-
(1999)
Diabetes
, vol.48
, pp. 1162-1167
-
-
Suaud, L.1
Hemimou, Y.2
Formstecher, P.3
Laine, B.4
-
109
-
-
0033979349
-
Primary structure, chromosomal mapping, expression and transcriptional activity of murine hepatocyte nuclear factor 4 gamma
-
(2000)
Biochimica et Biophysica Acta
, vol.1490
, pp. 21-32
-
-
Taraviras, S.1
Mantamadiotis, T.2
Dong-Si, T.3
Mincheva, A.4
Lichter, P.5
Drewes, T.6
Ryffel, G.U.7
Monaghan, A.P.8
Schütz, G.9
-
113
-
-
8044250298
-
Genetic variation in the hepatocyte nuclear factor-1 alpha gene in Danish caucasians with late-onset NIDDM
-
(1997)
Diabetologia
, vol.40
, pp. 473-475
-
-
Urhammer, S.A.1
Rasmussen, S.K.2
Kaisaki, P.J.3
Oda, N.4
Yamagata, K.5
Moller, A.M.6
Fridberg, M.7
Hansen, L.8
Hansen, T.9
Bell, G.I.10
Pedersen, O.11
-
119
-
-
12944309912
-
The mutated human gene encoding hepatocyte nuclear factor 1 beta inhibits kidney formation in developing Xenopus embryos
-
(2000)
PNAS
, vol.97
, pp. 4695-4700
-
-
Wild, W.1
Pogge, V.2
Strandmann, E.3
Nastos, A.4
Senkel, S.5
Lingott-Frieg, A.6
Bulman, M.7
Bingham, C.8
Ellard, S.9
Hattersley, A.T.10
Ryffel, G.U.11
-
122
-
-
0030818380
-
Mutations in the hepatocyte nuclear factor-1a gene (MODY3) are not a major cause of late-onset NIDDM in Japanese subjects
-
(1997)
Diabetes
, vol.46
, pp. 1512-1513
-
-
Yamada, S.1
Nishigori, H.2
Onda, H.3
Takahashi, K.4
Kitano, N.5
Morikawa, A.6
Takeuchi, T.7
Takeda, J.8
-
123
-
-
0033048609
-
Identification of mutations in the hepatocyte nuclear factor-1 alpha gene in Japanese subjects with early-onset NIDDM and functional analysis of the mutant proteins
-
(1999)
Diabetes
, vol.48
, pp. 645-648
-
-
Yamada, S.1
Tomura, H.2
Nishigori, H.3
Sho, K.4
Mabe, H.5
Iwatani, N.6
Takumi, T.7
Kito, Y.8
Moriya, N.9
Muroya, K.10
Ogata, T.11
Onigata, K.12
Morikawa, A.13
Inoue, I.14
Takeda, J.15
-
124
-
-
10544236911
-
Mutations in the hepatocyte nuclear factor-4 alpha gene in maturity-onset diabetes of the young (MODY1)
-
(1996)
Nature
, vol.384
, pp. 458-460
-
-
Yamagata, K.1
Furuta, H.2
Oda, N.3
Kaisaki, P.J.4
Menzel, S.5
Cox, N.J.6
Fajans, S.S.7
Signorini, S.8
Stoffel, M.9
Bell, G.I.10
-
125
-
-
0031848797
-
Mutation P291 fsinsC in the transcription factor hepatocyte nuclear factor-1 alpha is dominant negative
-
(1998)
Diabetes
, vol.47
, pp. 1231-1235
-
-
Yamagata, K.1
Yang, Q.2
Yamamoto, K.3
Iwahashi, H.4
Miyagawa, J.5
Okita, K.6
Yoshiuchi, I.7
Miyazaki, J.8
Noguchi, T.9
Nakajima, H.10
Namba, M.11
Hanafusa, T.12
Matsuzawa, Y.13
-
126
-
-
0033539934
-
Structure/function studies of hepatocyte nuclear factor-1 alpha, a diabetes-associated transcription factor
-
(1999)
Biochemical and Biophysical Research Communications
, vol.266
, pp. 196-202
-
-
Yang, Q.1
Yamagata, K.2
Yamamoto, K.3
Miyagawa, J.4
Takeda, J.5
Iwasaki, N.6
Iwahashi, H.7
Yoshiuchi, I.8
Namba, M.9
Miyazaki, J.10
Hanafusa, T.11
Matsuzawa, Y.12
-
127
-
-
0034166873
-
R127W-HNF-4 alpha is a loss of function mutation but not a rare polymorphism and causes type II diabetes in a Japanese family with MODY1
-
(2000)
Diabetologia
, vol.43
, pp. 520-524
-
-
Yang, Q.1
Yamagata, K.2
Yamamoto, K.3
Cao, Y.4
Miyagawa, J.5
Fukamizu, A.6
Hanafusa, T.7
Matsuzawa, Y.8
-
128
-
-
0032967401
-
Three new mutations in the hepatocyte nuclear factor-1 alpha gene in Japanese subjects with diabetes mellitus: Clinical features and functional characterization
-
(1999)
Diabetologia
, vol.42
, pp. 621-626
-
-
Yoshiuchi, I.1
Yamagata, K.2
Yang, Q.3
Iwahashi, H.4
Okita, K.5
Yamamoto, K.6
Oue, T.7
Imagawa, A.8
Hamaguchi, T.9
Yamasaki, T.10
Horikawa, Y.11
Satoh, T.12
Nakajima, H.13
Miyazaki, J.14
Higashiyama, S.15
Miyagawa, J.16
Namba, M.17
Hanafusa, T.18
Matsuzawa, Y.19
-
132
-
-
0033811031
-
Identification of missense mutations in the hepatocyte nuclear factor-3 beta gene in Japanese subjects with late-onset type II diabetes mellitus
-
(2000)
Diabetologia
, vol.43
, pp. 1197-1200
-
-
Zhu, Q.1
Yamagata, K.2
Yu, L.3
Tomura, H.4
Yamada, S.5
Yang, Q.6
Yoshiuchi, I.7
Sumi, S.8
Miyagawa, J.9
Takeda, J.10
Hanafusa, T.11
Matsuzawa, Y.12
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