Format
Items per page
Sort by

Send to:

Choose Destination

Links from PubMed

Items: 1 to 20 of 241

1.

Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene.

Thornton CA, Wymer JP, Simmons Z, McClain C, Moxley RT 3rd.

Nat Genet. 1997 Aug;16(4):407-9.

PMID:
9241283
2.

Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP.

Klesert TR, Otten AD, Bird TD, Tapscott SJ.

Nat Genet. 1997 Aug;16(4):402-6.

PMID:
9241282
3.

Effect of triplet repeat expansion on chromatin structure and expression of DMPK and neighboring genes, SIX5 and DMWD, in myotonic dystrophy.

Frisch R, Singleton KR, Moses PA, Gonzalez IL, Carango P, Marks HG, Funanage VL.

Mol Genet Metab. 2001 Sep-Oct;74(1-2):281-91.

PMID:
11592825
4.

A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat.

Boucher CA, King SK, Carey N, Krahe R, Winchester CL, Rahman S, Creavin T, Meghji P, Bailey ME, Chartier FL, et al.

Hum Mol Genet. 1995 Oct;4(10):1919-25.

PMID:
8595416
5.

Reduced expression of DMAHP/SIX5 gene in myotonic dystrophy muscle.

Inukai A, Doyu M, Kato T, Liang Y, Kuru S, Yamamoto M, Kobayashi Y, Sobue G.

Muscle Nerve. 2000 Sep;23(9):1421-6.

PMID:
10951446
6.

Myotonic dystrophy: tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression.

Korade-Mirnics Z, Tarleton J, Servidei S, Casey RR, Gennarelli M, Pegoraro E, Angelini C, Hoffman EP.

Hum Mol Genet. 1999 Jun;8(6):1017-23.

7.

Reduction of the DM-associated homeo domain protein (DMAHP) mRNA in different brain areas of myotonic dystrophy patients.

Gennarelli M, Pavoni M, Amicucci P, Angelini C, Menegazzo E, Zelano G, Novelli G, Dallapiccola B.

Neuromuscul Disord. 1999 Jun;9(4):215-9.

PMID:
10399747
8.

Expanding complexity in myotonic dystrophy.

Groenen P, Wieringa B.

Bioessays. 1998 Nov;20(11):901-12. Review.

PMID:
9872056
10.

Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities.

Seznec H, Agbulut O, Sergeant N, Savouret C, Ghestem A, Tabti N, Willer JC, Ourth L, Duros C, Brisson E, Fouquet C, Butler-Browne G, Delacourte A, Junien C, Gourdon G.

Hum Mol Genet. 2001 Nov 1;10(23):2717-26.

11.

Characterization of the expression of DMPK and SIX5 in the human eye and implications for pathogenesis in myotonic dystrophy.

Winchester CL, Ferrier RK, Sermoni A, Clark BJ, Johnson KJ.

Hum Mol Genet. 1999 Mar;8(3):481-92.

12.

Cis and trans effects of the myotonic dystrophy (DM) mutation in a cell culture model.

Amack JD, Paguio AP, Mahadevan MS.

Hum Mol Genet. 1999 Oct;8(11):1975-84. Erratum in: Hum Mol Genet 1999 Dec;8(13):2573.

13.

Inhibition of myogenesis in transgenic mice expressing the human DMPK 3'-UTR.

Storbeck CJ, Drmanic S, Daniel K, Waring JD, Jirik FR, Parry DJ, Ahmed N, Sabourin LA, Ikeda JE, Korneluk RG.

Hum Mol Genet. 2004 Mar 15;13(6):589-600. Epub 2004 Jan 20.

14.

Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins.

van den Broek WJ, Nelen MR, Wansink DG, Coerwinkel MM, te Riele H, Groenen PJ, Wieringa B.

Hum Mol Genet. 2002 Jan 15;11(2):191-8.

15.

Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts.

Sarkar PS, Appukuttan B, Han J, Ito Y, Ai C, Tsai W, Chai Y, Stout JT, Reddy S.

Nat Genet. 2000 May;25(1):110-4.

PMID:
10802668
16.

Altered phosphorylation and intracellular distribution of a (CUG)n triplet repeat RNA-binding protein in patients with myotonic dystrophy and in myotonin protein kinase knockout mice.

Roberts R, Timchenko NA, Miller JW, Reddy S, Caskey CT, Swanson MS, Timchenko LT.

Proc Natl Acad Sci U S A. 1997 Nov 25;94(24):13221-6.

17.

Effect of myotonic dystrophy trinucleotide repeat expansion on DMPK transcription and processing.

Krahe R, Ashizawa T, Abbruzzese C, Roeder E, Carango P, Giacanelli M, Funanage VL, Siciliano MJ.

Genomics. 1995 Jul 1;28(1):1-14.

PMID:
7590731
18.

The myotonic dystrophies.

Thornton C.

Semin Neurol. 1999;19(1):25-33. Review.

PMID:
10711986
19.

[Molecular genetics of myotonic dystrophy--population genetics of the CTG repeat expansion of the MTPK gene].

Yamagata H, Miki T, Ogihara T.

Nihon Rinsho. 1997 Dec;55(12):3205-9. Review. Japanese.

PMID:
9436437
20.

Myotonic dystrophy: clinical and molecular parallels between myotonic dystrophy type 1 and type 2.

Ranum LP, Day JW.

Curr Neurol Neurosci Rep. 2002 Sep;2(5):465-70. Review.

PMID:
12169228
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk