 | ||||||||||||||||||||||||||||
 |
Research Digest
|
|||||||||||||||||||||||||||
| Mar. 02 |
Myotonic Dystrophy Clinical Studies Explore Heart, Brain, Proteins
Seznec H et al. Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities. Hum Mol Genet. 2001 Nov 1;10(23):2717-26. [PubMed abstract] Sergeant N et al. Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1. Hum Mol Genet. 2001 Sep 15;10(19):2143-55. [PubMed abstract] Mankodi A et al. Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2. Hum Mol Genet. 2001 Sep 15;10(19):2165-70. [PubMed abstract] |
| Nov. 01 |
Gene found for second form of myotonic dystrophy
Liquori CL et al. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science. 2001 Aug 3;293(5531):864-7. |
| Nov. 01 |
Narcolepsy drug promotes alertness in MMD
Damian MS et al. Modafinil for excessive daytime sleepiness in myotonic dystrophy. Neurology. 2001 Mar 27;56(6):794-6. [PubMed abstract] [Quest] |
| Nov. 01 |
Defective RNA processing causes insulin resistance in DM1
Savkur RS et al. Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nat Genet. 2001 Sep;29(1):40-7. [PubMed abstract] [MDA Technical Summary] |
| July 01 |
MMD: Heart and skeletal muscle weakness correlated
Antonini G et al. Natural history of cardiac involvement in myotonic dystrophy: correlation with CTG repeats. Neurology. 2000 Oct 24;55(8):1207-9. [PubMed abstract] [Quest] |
| July 01 |
Myotonic MD treatments appear nearer as knowledge grows
Tapscott SJ et al. Deconstructing myotonic dystrophy. Science. 2000 Sep 8;289(5485):1701-2. No abstract available. [PubMed abstract] [Quest] |
| Sept. 99 |
Decreased Levels of DMHAP Protein Reported in Some Brain Regions in Myotonic Dystrophy Gennarelli M, et al. (1999): Reduction of the MMD-associated homeo domain protein (DMAHP) mRNA in different brain areas of myotonic dystrophy patients. Neuromuscular Disorders, 9:215-219. [PubMed abstract] |
| Sept. 99 |
Evidence That CTG Repeats Affect Neighboring Genes in Myotonic Dystrophy Alwazzan, M et al. (1999): Myotonic dystrophy is associated with a reduced level of RNA from the DMWD allele adjacent to the expanded repeat. Human Molecular Genetics, 8(8):1491-1497. [PubMed abstract] [MDA Technical Summary] |
| Aug. 99 |
Expression Pattern of the SIX5 Gene Suggests Its Involvement in Adult-Onset Cataracts in Myotonic Dystrophy Winchester, CL et al. (1999): Characterization of the expression of DMPK and SIX5 in the human eye and implications for pathogenesis in myotonic dystrophy. Human Molecular Genetics, 8(3):481-492. [PubMed abstract] |
| Aug. 99 |
Life-Expectancies and Causes of Death in Myotonic Dystrophy Mathieu, J et al. (1999): A 10-year study of mortality in a cohort of patients with myotonic dystrophy. Neurology, 52(8):1658-1662. [PubMed abstract] |
| Aug. 99 |
CTG Repeats Effect Gene Expression Differently in Different Tissues in Myotonic Dystrophy Korade-Mirnics, Z et al. (1999): Myotonic dystrophy: tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression. Human Molecular Genetics, 8(6):1017-1023. (MDA funded) [PubMed abstract] |
| Aug. 99 |
CTG Expansion Modifies Expression of Two Genes in Myotonic Dystrophy Eriksson, M et al. (1999): Simultaneous analysis of expression of the three myotonic dystrophy locus genes in adult skeletal muscle samples: the CTG expansion correlates inversely with DMPK and 59 expression levels, but not DMAHP levels. Human Molecular Genetics, 8(6):1053-1060. [PubMed abstract] |
| Aug. 99 |
The Number, or Dose, of Myotonic Dystrophy Genes in Cells Relates to Cardiac Conduction Problems Berul, CI et al. (1999): DMPK dosage alterations result in atrioventricular conduction abnormalities in a mouse myotonic dystrophy model. Journal of Clinical Investigation, 103(4):R1-R7. [PubMed abstract] |
< < Back to Research Digest Menu
![[MDA - Muscular Dystrophy Association]](/images/foot_res.gif) |
 | What's New | Diseases | Research | Clinics & Services | Community Programs | Publications | En Español | Telethon | Ways to Help | Video | Search | Site Map | Help Now | Home | |