-
1
-
-
0000584464
-
Uber cataracten in verbindung mit einer eigenthumlichen hautdegeneration
-
Rothmund, A. (1868) Uber cataracten in verbindung mit einer eigenthumlichen hautdegeneration. Arch. Klin. Exp. Ophthal., 4, 159-182.
-
(1868)
Arch. Klin. Exp. Ophthal.
, vol.4
, pp. 159-182
-
-
Rothmund, A.1
-
2
-
-
84980087875
-
Poikiloderma congenitale
-
Thomson, M.S. (1936) Poikiloderma congenitale. Br. J. Dermatol., 48, 221-234.
-
(1936)
Br. J. Dermatol.
, vol.48
, pp. 221-234
-
-
Thomson, M.S.1
-
3
-
-
0036233108
-
Preparation of the gene targeted knockout mice for human premature aging diseases, Werner syndrome, and Rothmund-Thomson syndrome caused by the mutation of DNA helicases
-
Ichikawa, K., Noda, T. and Furuichi, Y. (2002) Preparation of the gene targeted knockout mice for human premature aging diseases, Werner syndrome, and Rothmund-Thomson syndrome caused by the mutation of DNA helicases. Nippon Yakurigaku Zasshil, 119, 219-226.
-
(2002)
Nippon Yakurigaku Zasshil
, vol.119
, pp. 219-226
-
-
Ichikawa, K.1
Noda, T.2
Furuichi, Y.3
-
4
-
-
0028896957
-
Rothmund-Thomson syndrome
-
Vennos, E.M. and James, W.D. (1995) Rothmund-Thomson syndrome. Dermatol. Clin., 13, 143-150.
-
(1995)
Dermatol. Clin.
, vol.13
, pp. 143-150
-
-
Vennos, E.M.1
James, W.D.2
-
5
-
-
0026768449
-
Rothmund-Thomson syndrome: Review of the world literature
-
Vennos, E.M., Collins, M. and James, W.D. (1992) Rothmund-Thomson syndrome: review of the world literature. J. Am. Acad. Dermatol., 27, 750-762.
-
(1992)
J. Am. Acad. Dermatol.
, vol.27
, pp. 750-762
-
-
Vennos, E.M.1
Collins, M.2
James, W.D.3
-
6
-
-
0035062128
-
DNA helicase deficiencies associated with cancer predisposition and premature ageing disorders
-
Mohaghegh, P. and Hickson, I.D. (2001) DNA helicase deficiencies associated with cancer predisposition and premature ageing disorders. Hum. Mol. Genet., 10, 741-746.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 741-746
-
-
Mohaghegh, P.1
Hickson, I.D.2
-
7
-
-
0032535661
-
Cloning of two new human helicase genes of the RecQ family: Biological significance of multiple species in higher eukaryotes
-
Kitao, S., Ohsugi, I., Ichikawa, K., Goto, M., Furuichi, Y. and Shimamoto, A. (1998) Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes. Genomics, 54, 443-452.
-
(1998)
Genomics
, vol.54
, pp. 443-452
-
-
Kitao, S.1
Ohsugi, I.2
Ichikawa, K.3
Goto, M.4
Furuichi, Y.5
Shimamoto, A.6
-
8
-
-
0032939991
-
Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome
-
Kitao, S., Shimamoto, A., Goto, M., Miller, R.W., Smithson, W.A., Lindor, N.M. and Furuichi, Y. (1999) Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Nat. Genet., 22, 82-84.
-
(1999)
Nat. Genet.
, vol.22
, pp. 82-84
-
-
Kitao, S.1
Shimamoto, A.2
Goto, M.3
Miller, R.W.4
Smithson, W.A.5
Lindor, N.M.6
Furuichi, Y.7
-
9
-
-
0037206591
-
An unusual mutation in RECQ4 gene leading to Rothmund-Thomson syndrome
-
Balraj, P., Concannon, P., Jamal, R., Beghini, A., Hoe, T.S., Khoo, A.S. and Volpi, L. (2002) An unusual mutation in RECQ4 gene leading to Rothmund-Thomson syndrome. Mutat. Res., 508, 99-105.
-
(2002)
Mutat. Res.
, vol.508
, pp. 99-105
-
-
Balraj, P.1
Concannon, P.2
Jamal, R.3
Beghini, A.4
Hoe, T.S.5
Khoo, A.S.6
Volpi, L.7
-
10
-
-
0032736140
-
Rothmund-Thomson syndrome responsible gene, RECQL4: Genomic structure and products
-
Kitao, S., Lindor, N.M., Shiratori, M., Furuichi, Y. and Shimamoto, A. (1999) Rothmund-Thomson syndrome responsible gene, RECQL4: genomic structure and products. Genomics, 61, 268-276.
-
(1999)
Genomics
, vol.61
, pp. 268-276
-
-
Kitao, S.1
Lindor, N.M.2
Shiratori, M.3
Furuichi, Y.4
Shimamoto, A.5
-
11
-
-
0036308256
-
Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome
-
Wang, L.L., Worley, K., Gannavarapu, A., Chintagumpala, M.M., Levy, M.L. and Plon, S.E. (2002) Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome. Am. J. Hum. Genet., 71, 165-167.
-
(2002)
Am. J. Hum. Genet.
, vol.71
, pp. 165-167
-
-
Wang, L.L.1
Worley, K.2
Gannavarapu, A.3
Chintagumpala, M.M.4
Levy, M.L.5
Plon, S.E.6
-
12
-
-
0024344173
-
Two related superfamilies of putative helicases involved in replication, recombination, repair and expression of DNA and RNA genomes
-
Gorbalenya, A.E., Koonin, E.V., Donchenko, A.P. and Blinov, V.M. (1989) Two related superfamilies of putative helicases involved in replication, recombination, repair and expression of DNA and RNA genomes. Nucl. Acids Res., 17, 4713-4730.
-
(1989)
Nucl. Acids Res.
, vol.17
, pp. 4713-4730
-
-
Gorbalenya, A.E.1
Koonin, E.V.2
Donchenko, A.P.3
Blinov, V.M.4
-
13
-
-
0034739792
-
Cloning, genomic structure and chromosomal localization of the gene encoding mouse DNA helicase RecQ helicase protein-like 4
-
Ohhata, T., Araki, R., Fukumura, R., Kuroiwa, A., Matsuda, Y., Tatsumi, K. and Abe, M. (2000) Cloning, genomic structure and chromosomal localization of the gene encoding mouse DNA helicase RecQ helicase protein-like 4. Gene, 261, 251-258.
-
(2000)
Gene
, vol.261
, pp. 251-258
-
-
Ohhata, T.1
Araki, R.2
Fukumura, R.3
Kuroiwa, A.4
Matsuda, Y.5
Tatsumi, K.6
Abe, M.7
-
14
-
-
0035852638
-
Crystal structure of a DEAD box protein from the hyperthermophile Methanococcus jannaschii
-
Story, R.M., Li, H. and Abelson, J.N. (2001) Crystal structure of a DEAD box protein from the hyperthermophile Methanococcus jannaschii. Proc. Natl Acad. Sci. USA, 98, 1465-1470.
-
(2001)
Proc. Natl. Acad. Sci. USA
, vol.98
, pp. 1465-1470
-
-
Story, R.M.1
Li, H.2
Abelson, J.N.3
-
15
-
-
0026680746
-
Mutational analysis of a DEAD box RNA helicase: The mammalian translation initiation factor eIF-4A
-
Pause, A. and Sonenberg, N. (1992) Mutational analysis of a DEAD box RNA helicase: the mammalian translation initiation factor eIF-4A. EMBO J., 11, 2643-2654.
-
(1992)
EMBO J.
, vol.11
, pp. 2643-2654
-
-
Pause, A.1
Sonenberg, N.2
-
16
-
-
0032547953
-
Point mutations causing Bloom's syndrome abolish ATPase and DNA helicase activities of the BLM protein
-
Bahr, A., De Graeve, F., Kedinger, C. and Chatton, B. (1998) Point mutations causing Bloom's syndrome abolish ATPase and DNA helicase activities of the BLM protein. Oncogene, 17, 2565-2571.
-
(1998)
Oncogene
, vol.17
, pp. 2565-2571
-
-
Bahr, A.1
De Graeve, F.2
Kedinger, C.3
Chatton, B.4
-
17
-
-
0028224716
-
A mutation in helicase motif III of E. coli RecG protein abolishes branch migration of Holliday junctions
-
Sharples, G.J., Whitby, M.C., Ryder, L. and Lloyd, R.G. (1994) A mutation in helicase motif III of E. coli RecG protein abolishes branch migration of Holliday junctions. Nucl. Acids Res., 22, 308-313.
-
(1994)
Nucl. Acids Res.
, vol.22
, pp. 308-313
-
-
Sharples, G.J.1
Whitby, M.C.2
Ryder, L.3
Lloyd, R.G.4
-
18
-
-
0027321548
-
Derivation of completely cell culture-derived mice from early-passage embryonic stem cells
-
Nagy, A., Rossant, J., Nagy, R., Abramow-Newerly, W. and Roder, J.C. (1993) Derivation of completely cell culture-derived mice from early-passage embryonic stem cells. Proc. Natl Acad. Sci. USA, 90, 8424-8428.
-
(1993)
Proc. Natl. Acad. Sci. USA
, vol.90
, pp. 8424-8428
-
-
Nagy, A.1
Rossant, J.2
Nagy, R.3
Abramow-Newerly, W.4
Roder, J.C.5
-
20
-
-
0020663062
-
A severe combined immunodeficiency mutation in the mouse
-
Bosma, G.C., Custer, R.P. and Bosma, M.J. (1983) A severe combined immunodeficiency mutation in the mouse. Nature, 301, 527-530.
-
(1983)
Nature
, vol.301
, pp. 527-530
-
-
Bosma, G.C.1
Custer, R.P.2
Bosma, M.J.3
-
21
-
-
0032573157
-
A deletion within the murine Werner syndrome helicase induces sensitivity to inhibitors of topoisomerase and loss of cellular proliferative capacity
-
Lebel, M. and Leder, P. (1998) A deletion within the murine Werner syndrome helicase induces sensitivity to inhibitors of topoisomerase and loss of cellular proliferative capacity. Proc. Natl Acad. Sci. USA, 95, 13097-13102.
-
(1998)
Proc. Natl. Acad. Sci. USA
, vol.95
, pp. 13097-13102
-
-
Lebel, M.1
Leder, P.2
-
22
-
-
17544402913
-
Mutations in the WRN gene in mice accelerate mortality in a p53-null background
-
Lombard, D.B., Beard, C., Johnson, B., Marciniak, R.A., Dausman, J., Bronson, R., Buhlmann, J.E., Lipman, R., Curry, R., Sharpe, A. et al. (2000) Mutations in the WRN gene in mice accelerate mortality in a p53-null background. Mol. Cell. Biol., 20, 3286-3291.
-
(2000)
Mol. Cell. Biol.
, vol.20
, pp. 3286-3291
-
-
Lombard, D.B.1
Beard, C.2
Johnson, B.3
Marciniak, R.A.4
Dausman, J.5
Bronson, R.6
Buhlmann, J.E.7
Lipman, R.8
Curry, R.9
Sharpe, A.10
-
23
-
-
0032213939
-
Stage-specific apoptosis, developmental delay, and embryonic lethality in mice homozygous for a targeted disruption in the murine Bloom's syndrome gene
-
Chester, N., Kuo, F., Kozak, C., O'Hara, C.D. and Leder, P. (1998) Stage-specific apoptosis, developmental delay, and embryonic lethality in mice homozygous for a targeted disruption in the murine Bloom's syndrome gene. Genes Dev., 12, 3382-3393.
-
(1998)
Genes Dev.
, vol.12
, pp. 3382-3393
-
-
Chester, N.1
Kuo, F.2
Kozak, C.3
O'Hara, C.D.4
Leder, P.5
-
24
-
-
0033667704
-
Cancer predisposition caused by elevated mitotic recombination in Bloom mice
-
Luo, G., Santoro, I.M., McDaniel, L.D., Nishijima, I., Mills, M., Youssoufian, H., Vogel, H., Schultz, R.A. and Bradley, A. (2000) Cancer predisposition caused by elevated mitotic recombination in Bloom mice. Nat. Genet., 26, 424-429.
-
(2000)
Nat. Genet.
, vol.26
, pp. 424-429
-
-
Luo, G.1
Santoro, I.M.2
McDaniel, L.D.3
Nishijima, I.4
Mills, M.5
Youssoufian, H.6
Vogel, H.7
Schultz, R.A.8
Bradley, A.9
-
25
-
-
0028978672
-
High susceptibility to ultraviolet-induced carcinogenesis in mice lacking XPC
-
Sands, A.T., Abuin, A., Sanchez, A., Conti, C.J. and Bradley, A. (1995) High susceptibility to ultraviolet-induced carcinogenesis in mice lacking XPC. Nature, 377, 162-165.
-
(1995)
Nature
, vol.377
, pp. 162-165
-
-
Sands, A.T.1
Abuin, A.2
Sanchez, A.3
Conti, C.J.4
Bradley, A.5
|