-
1
-
-
0034161419
-
Exonic splicing enhancers: Mechanism of action, diversity and role in human genetic diseases
-
Blencowe, B.J. (2000) Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases. Trends Biochem. Sci., 25, 106-110.
-
(2000)
Trends Biochem. Sci.
, vol.25
, pp. 106-110
-
-
Blencowe, B.J.1
-
2
-
-
39549115241
-
A focus on the role of Pax4 in mature pancreatic islet beta-cell expansion and survival in health and disease
-
Brun, T. & Gauthier, B.R. (2008) A focus on the role of Pax4 in mature pancreatic islet beta-cell expansion and survival in health and disease. J. Mol. Endocrinol., 40, 37-45.
-
(2008)
J. Mol. Endocrinol.
, vol.40
, pp. 37-45
-
-
Brun, T.1
Gauthier, B.R.2
-
3
-
-
0035960122
-
Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young
-
Fajans, S.S., Bell, G.I. & 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
-
4
-
-
0033508033
-
Identification of a portable repression domain and an E1A-responsive activation domain in Pax4: A possible role of Pax4 as a transcriptional repressor in the pancreas
-
Fujitani, Y., Kajimoto, Y., Yasuda, T., Matsuoka, T.A., Kaneto, H., Umayahara, Y., Fujita, N., Watada, H., Miyazaki, J.I., Yamasaki, Y. & Hori, M. (1999) Identification of a portable repression domain and an E1A-responsive activation domain in Pax4: a possible role of Pax4 as a transcriptional repressor in the pancreas. Mol. Cell. Biol., 19, 8281-8291.
-
(1999)
Mol. Cell. Biol.
, vol.19
, pp. 8281-8291
-
-
Fujitani, Y.1
Kajimoto, Y.2
Yasuda, T.3
Matsuoka, T.A.4
Kaneto, H.5
Umayahara, Y.6
Fujita, N.7
Watada, H.8
Miyazaki, J.I.9
Yamasaki, Y.10
Hori, M.11
-
5
-
-
0036347934
-
Nonsense and missense mutations in the human hepatocyte nuclear factor-1 beta 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-1 beta 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
-
6
-
-
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. (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
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
-
7
-
-
33644747220
-
Molecular genetic analysis of MODY candidate genes in Japanese patients with non-obese juvenile onset diabetes mellitus
-
Kagami-Takasugi, M., Katsumata, N., Tanaka, T., Tajima, T. & Fujieda, K. (2006) Molecular genetic analysis of MODY candidate genes in Japanese patients with non-obese juvenile onset diabetes mellitus. J. Pediatr. Endocrinol. Metab., 19, 143-148.
-
(2006)
J. Pediatr. Endocrinol. Metab.
, vol.19
, pp. 143-148
-
-
Kagami-Takasugi, M.1
Katsumata, N.2
Tanaka, T.3
Tajima, T.4
Fujieda, K.5
-
8
-
-
77951974278
-
Two novel exonic point mutations in HEXA identified in a juvenile Tay-Sachs patient: Role of alternative splicing and nonsense-mediated mRNA decay
-
Levit, A., Nutman, D., Osher, E., Kamhi, E. & Navon, R. (2010) Two novel exonic point mutations in HEXA identified in a juvenile Tay-Sachs patient: role of alternative splicing and nonsense-mediated mRNA decay. Mol. Genet. Metab., 100, 176-183.
-
(2010)
Mol. Genet. Metab.
, vol.100
, pp. 176-183
-
-
Levit, A.1
Nutman, D.2
Osher, E.3
Kamhi, E.4
Navon, R.5
-
9
-
-
0032700272
-
Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus
-
Malecki, M.T., Jhala, U.S., Antonellis, A., Fields, L., Doria, A., Orban, T., Saad, M., Warram, J.H., Montminy, M. & Krolewski, A.S. (1992) Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus. Nat. Genet., 23, 323-328.
-
(1992)
Nat. Genet.
, vol.23
, pp. 323-328
-
-
Malecki, M.T.1
Jhala, U.S.2
Antonellis, A.3
Fields, L.4
Doria, A.5
Orban, T.6
Saad, M.7
Warram, J.H.8
Montminy, M.9
Krolewski, A.S.10
-
10
-
-
0036171787
-
An exon splice enhancer mutation causes autosomal dominant GH deficiency
-
Moseley, C.T., Mullis, P.E., Prince, M.A. & Phillips, J.A. 3rd. (2002) An exon splice enhancer mutation causes autosomal dominant GH deficiency. J. Clin. Endocrinol. Metab., 87, 847-852.
-
(2002)
J. Clin. Endocrinol. Metab.
, vol.87
, pp. 847-852
-
-
Moseley, C.T.1
Mullis, P.E.2
Prince, M.A.3
Phillips III, J.A.4
-
11
-
-
0031626719
-
Mutations in the hepatocyte nuclear factor-1 alpha gene (MODY3) are not a major cause of early-onset non-insulin-dependent (type 2) diabetes mellitus in Japanese
-
Nishigori, H., Yamada, S., Kohama, T., Utsugi, T., Shimizu, H., Takeuchi, T. & Takeda, J. (1993) Mutations in the hepatocyte nuclear factor-1 alpha gene (MODY3) are not a major cause of early-onset non-insulin-dependent (type 2) diabetes mellitus in Japanese. J. Hum. Genet., 43, 107-110.
-
(1993)
J. Hum. Genet.
, vol.43
, pp. 107-110
-
-
Nishigori, H.1
Yamada, S.2
Kohama, T.3
Utsugi, T.4
Shimizu, H.5
Takeuchi, T.6
Takeda, J.7
-
12
-
-
0035895515
-
Genomics and medicine. Dissecting human disease in the postgenomic era
-
Peltonen, L. & McKusick, V.A. (2001) Genomics and medicine. Dissecting human disease in the postgenomic era. Science, 291, 1224-1229.
-
(2001)
Science
, vol.291
, pp. 1224-1229
-
-
Peltonen, L.1
McKusick, V.A.2
-
13
-
-
34447132254
-
PAX4 mutations in Thais with maturity onset diabetes of the young
-
Plengvidhya, N., Kooptiwut, S., Songtawee, N., Doi, A., Furuta, H., Nishi, M., Nanjo, K., Tantibhedhyangkul, W., Boonyasrisawat, W., Yenchitsomanus, P.T., Doria, A. & Banchuin, N. (2007) PAX4 mutations in Thais with maturity onset diabetes of the young. J. Clin. Endocrinol. Metab., 92, 2821-2826.
-
(2007)
J. Clin. Endocrinol. Metab.
, vol.92
, pp. 2821-2826
-
-
Plengvidhya, N.1
Kooptiwut, S.2
Songtawee, N.3
Doi, A.4
Furuta, H.5
Nishi, M.6
Nanjo, K.7
Tantibhedhyangkul, W.8
Boonyasrisawat, W.9
Yenchitsomanus, P.T.10
Doria, A.11
Banchuin, N.12
-
14
-
-
33750356583
-
Nonsense-mediated mRNA decay: Target genes and functional diversification of effectors
-
Rehwinkel, J., Raes, J. & Izaurralde, E. (2006) Nonsense-mediated mRNA decay: target genes and functional diversification of effectors. Trends Biochem. Sci., 31, 639-646.
-
(2006)
Trends Biochem. Sci.
, vol.31
, pp. 639-646
-
-
Rehwinkel, J.1
Raes, J.2
Izaurralde, E.3
-
15
-
-
79251476847
-
Report of the Committee in the classification and diagnostic criteria of diabetes mellitus
-
Seino, Y., Nanjo, K., Tajima, N., Kadowaki, T., Kashiwagi, A., Araki, E., Ito, C., Inagaki, N., Iwamoto, Y., Kasuga, M., Hanafusa, T., Haneda, M. & Ueki, K. (2010) Report of the Committee in the classification and diagnostic criteria of diabetes mellitus. J. Diabetes Invest., 1, 212-228.
-
(2010)
J. Diabetes Invest.
, vol.1
, pp. 212-228
-
-
Seino, Y.1
Nanjo, K.2
Tajima, N.3
Kadowaki, T.4
Kashiwagi, A.5
Araki, E.6
Ito, C.7
Inagaki, N.8
Iwamoto, Y.9
Kasuga, M.10
Hanafusa, T.11
Haneda, M.12
Ueki, K.13
-
16
-
-
0035656778
-
A missense mutation of Pax4 gene (R121W) is associated with type 2 diabetes in Japanese
-
Shimajiri, Y., Sanke, T., Furuta, H., Hanabusa, T., Nakagawa, T., Fujitani, Y., Kajimoto, Y., Takasu, N. & Nanjo, K. (2001) A missense mutation of Pax4 gene (R121W) is associated with type 2 diabetes in Japanese. Diabetes, 50, 2864-2869.
-
(2001)
Diabetes
, vol.50
, pp. 2864-2869
-
-
Shimajiri, Y.1
Sanke, T.2
Furuta, H.3
Hanabusa, T.4
Nakagawa, T.5
Fujitani, Y.6
Kajimoto, Y.7
Takasu, N.8
Nanjo, K.9
-
17
-
-
0033499662
-
Paired-homeodomain transcription factor PAX4 acts as a transcriptional repressor in early pancreatic development
-
Smith, S.B., Ee, H.C., Conners, J.R. & German, M.S. (1999) Paired-homeodomain transcription factor PAX4 acts as a transcriptional repressor in early pancreatic development. Mol. Cell. Biol., 9, 8272-8280.
-
(1999)
Mol. Cell. Biol.
, vol.9
, pp. 8272-8280
-
-
Smith, S.B.1
Ee, H.C.2
Conners, J.R.3
German, M.S.4
-
18
-
-
0030897629
-
The Pax4 gene is essential for differentiation of insulin-producing beta cells in the mammalian pancreas
-
Sosa-Pineda, B., Chowdhury, K., Torres, M., Oliver, G. & Gruss, P. (1997) The Pax4 gene is essential for differentiation of insulin-producing beta cells in the mammalian pancreas. Nature, 386, 399-402.
-
(1997)
Nature
, vol.386
, pp. 399-402
-
-
Sosa-Pineda, B.1
Chowdhury, K.2
Torres, M.3
Oliver, G.4
Gruss, P.5
-
19
-
-
14544304564
-
The gene Pax4 is an essential regulator of pancreatic beta-cell development
-
Sosa-Pineda, B. (2004) The gene Pax4 is an essential regulator of pancreatic beta-cell development. Mol. Cells, 18, 289-294.
-
(2004)
Mol. Cells
, vol.18
, pp. 289-294
-
-
Sosa-Pineda, B.1
-
20
-
-
0031253820
-
Early-onset type-II diabetes mellitus (MODY4) linked to IPF1
-
Stoffers, D.A., Ferrer, J., Clarke, W.L. & Habener, J.F. (1997) Early-onset type-II diabetes mellitus (MODY4) linked to IPF1. Nat. Genet., 17, 138-139.
-
(1997)
Nat. Genet.
, vol.17
, pp. 138-139
-
-
Stoffers, D.A.1
Ferrer, J.2
Clarke, W.L.3
Habener, J.F.4
-
21
-
-
0026562918
-
Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus
-
Vionnet, N., Stoffel, M., Takeda, J., Yasuda, K., Bell, G.I., Zouali, H., Lesage, S., Velho, G., Iris, F., Passa, P., Froguel, P. & Cohen, D. (1992) Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus. Nature, 356, 721-722.
-
(1992)
Nature
, vol.356
, pp. 721-722
-
-
Vionnet, N.1
Stoffel, M.2
Takeda, J.3
Yasuda, K.4
Bell, G.I.5
Zouali, H.6
Lesage, S.7
Velho, G.8
Iris, F.9
Passa, P.10
Froguel, P.11
Cohen, D.12
-
22
-
-
10544236911
-
Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1)
-
Yamagata, K., Furuta, H., Oda, N., Kaisaki, P.J., Menzel, S., Cox, N.J., Fajans, S.S., Signorini, S., Stoffel, M. & Bell, G.I. (1996a) Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1). Nature, 384, 458-460.
-
(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
-
23
-
-
10544249874
-
Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3)
-
Yamagata, K., Oda, N., Kaisaki, P.J., Menzel, S., Furuta, H., Vaxillaire, M., Southam, L., Cox, R.D., Lathrop, M.G., Boriraj, V.V., Chen, X., Cox, N.J., Oda, Y., Yano, H., LeBeau, M.M., Yamada, S., Nishigori, H., Takeda, J., Fajans, S.S., Hattersley, A.T., Iwasaki, N., Hansen, T., Pederson, O., Polonsky, K.S., Turner, R.C., Velho, G., Chevre J.C., Froguel, P. & Bell, G.I. (1996b) Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3). Nature, 384, 455-458.
-
(1996)
Nature
, vol.384
, pp. 455-458
-
-
Yamagata, K.1
Oda, N.2
Kaisaki, P.J.3
Menzel, S.4
Furuta, H.5
Vaxillaire, M.6
Southam, L.7
Cox, R.D.8
Lathrop, M.G.9
Boriraj, V.V.10
Chen, X.11
Cox, N.J.12
Oda, Y.13
Yano, H.14
Le Beau, M.M.15
Yamada, S.16
Nishigori, H.17
Takeda, J.18
Fajans, S.S.19
Hattersley, A.T.20
Iwasaki, N.21
Hansen, T.22
Pederson, O.23
Polonsky, K.S.24
Turner, R.C.25
Velho, G.26
Chevre, J.C.27
Froguel, P.28
Bell, G.I.29
more..
|