Biomedicine - Deconstructing myotonic dystrophy

被引：43

作者：

Tapscott, SJ ^{[1
]}

机构：

[1] Fred Hutchinson Canc Res Ctr, Div Human Biol, Seattle, WA 98109 USA

来源：

SCIENCE | 2000年 / 289卷 / 5485期

关键词：

D O I：

10.1126/science.289.5485.1701

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

引用

页码：1701 / 1702

页数：2

共 20 条

[1] Myotonic dystrophy is associated with a reduced level of RNA from the DMWD allele adjacent to the expanded repeat [J].

Alwazzan, M ;

Newman, E ;

Hamshere, MG ;

Brook, JD .

HUMAN MOLECULAR GENETICS, 1999, 8 (08) :1491-1497

[2] DMPK dosage alterations result in atrioventricular conduction abnormalities in a mouse myotonic dystrophy model [J].

Berul, CI ;

Maguire, CT ;

Aronovitz, MJ ;

Greenwood, J ;

Miller, C ;

Gehrmann, J ;

Housman, D ;

Mendelsohn, ME ;

Reddy, S .

JOURNAL OF CLINICAL INVESTIGATION, 1999, 103 (04) :R1-R7

[3] Expansion of a CUG trinucleotide repeat in the 3' untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts [J].

Davis, BM ;

McCurrach, ME ;

Taneja, KL ;

Singer, RH ;

Housman, DE .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1997, 94 (14) :7388-7393

[4] Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2) [J].

Day, JW ;

Roelofs, R ;

Leroy, B ;

Pech, I ;

Benzow, K ;

Ranum, LPW .

NEUROMUSCULAR DISORDERS, 1999, 9 (01) :19-27

[5] Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice [J].

Jansen, G ;

Groenen, PJTA ;

Bachner, D ;

Jap, PHK ;

Coerwinkel, M ;

Oerlemans, F ;

vandenBroek, W ;

Gohlsch, B ;

Pette, D ;

Plomp, JJ ;

Molenaar, PC ;

Nederhoff, MGJ ;

vanEchteld, CJA ;

Dekker, M ;

Berns, A ;

Hameister, H ;

Wieringa, B .

NATURE GENETICS, 1996, 13 (03) :316-324

[6] Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP [J].

Klesert, TR ;

Otten, AD ;

Bird, TD ;

Tapscott, SJ .

NATURE GENETICS, 1997, 16 (04) :402-406

[7] Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy [J].

Klesert, TR ;

Cho, DH ;

Clark, JI ;

Maylie, J ;

Adelman, J ;

Snider, L ;

Yuen, EC ;

Soriano, P ;

Tapscott, SJ .

NATURE GENETICS, 2000, 25 (01) :105-109

[8] Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat [J].

Mankodi, A ;

Logigian, E ;

Callahan, L ;

McClain, C ;

White, R ;

Henderson, D ;

Krym, M ;

Thornton, CA .

SCIENCE, 2000, 289 (5485) :1769-1772

[9] TRIPLET REPEAT EXPANSION IN MYOTONIC-DYSTROPHY ALTERS THE ADJACENT CHROMATIN STRUCTURE [J].

OTTEN, AD ;

TAPSCOTT, SJ .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1995, 92 (12) :5465-5469

[10] Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy [J].

Philips, AV ;

Timchenko, LT ;

Cooper, TA .

SCIENCE, 1998, 280 (5364) :737-741

← 1 2 →