scholarly journals A Prospective Study in the Rational Design of Efficient Antisense Oligonucleotides for Exon Skipping in the DMD Gene

2012 ◽  
Vol 23 (7) ◽  
pp. 781-790 ◽  
Author(s):  
Zacharias Aloysius Dwi Pramono ◽  
Keng Boon Wee ◽  
Jian Li Wang ◽  
Yi Jun Chen ◽  
Qian Bin Xiong ◽  
...  
Keyword(s):  
Prospective Study ◽  
Antisense Oligonucleotides ◽  
Rational Design ◽  
Exon Skipping ◽  
Dmd Gene ◽  
A Prospective Study

T.P.18 A recipe for the rational design of efficient antisense oligonucleotides for DMD gene exon skipping

2012 ◽  
Vol 22 (9-10) ◽  
pp. 858
Author(s):  
K.B. Wee ◽  
J.L. Wang ◽  
Y.J. Chen ◽  
Q.B. Xiong ◽  
P.S. Lai ◽  
...  
Keyword(s):  
Antisense Oligonucleotides ◽  
Rational Design ◽  
Exon Skipping ◽  
Dmd Gene ◽  
Gene Exon

scholarly journals A Genotype-Phenotype Correlation Study of Exon Skip-Equivalent In-Frame Deletions and Exon Skip-Amenable Out-of-Frame Deletions across the DMD Gene to Simulate the Effects of Exon-Skipping Therapies: A Meta-Analysis

2021 ◽  
Vol 11 (1) ◽  
pp. 46
Author(s):  
Saeed Anwar ◽  
Merry He ◽  
Kenji Rowel Q. Lim ◽  
Rika Maruyama ◽  
Toshifumi Yokota
Keyword(s):  
Muscular Dystrophy ◽  
Rational Design ◽  
Meta Analysis ◽  
Exon Skipping ◽  
Correlation Study ◽  
Phenotype Correlation ◽  
Patient Registries ◽  
Genotype Phenotype Correlation ◽  
Exon Skip ◽  
Dmd Gene

Dystrophinopathies are caused by mutations in the DMD gene. Out-of-frame deletions represent most mutational events in severe Duchenne muscular dystrophy (DMD), while in-frame deletions typically lead to milder Becker muscular dystrophy (BMD). Antisense oligonucleotide-mediated exon skipping converts an out-of-frame transcript to an in-frame one, inducing a truncated but partially functional dystrophin protein. The reading frame rule, however, has many exceptions. We thus sought to simulate clinical outcomes of exon-skipping therapies for DMD exons from clinical data of exon skip-equivalent in-frame deletions, in which the expressed quasi-dystrophins are comparable to those resulting from exon-skipping therapies. We identified a total of 1298 unique patients with exon skip-equivalent mutations in patient registries and the existing literature. We classified them into skip-equivalent deletions of each exon and statistically compared the ratio of DMD/BMD and asymptomatic individuals across the DMD gene. Our analysis identified that five exons are associated with significantly milder phenotypes than all other exons when corresponding exon skip-equivalent in-frame deletion mutations occur. Most exon skip-equivalent in-frame deletions were associated with a significantly milder phenotype compared to corresponding exon skip-amenable out-of-frame mutations. This study indicates the importance of genotype-phenotype correlation studies in the rational design of exon-skipping therapies.

scholarly journals New Approach for Antisense Oligonucleotide-Mediated Exon Skipping in Duchenne Muscular Dystrophy

2012 ◽  
Vol 16 (4) ◽  
pp. 521-526
Author(s):  
Yoshitsugu Aoki ◽  
◽  
Tetsuya Nagata ◽  
Shin’ichi Takeda
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Antisense Oligonucleotide ◽  
Antisense Oligonucleotides ◽  
Exon Skipping ◽  
New Approach ◽  
Reading Frame ◽  
Promising Therapeutic Approach ◽  
Dmd Gene ◽  
Dystrophin Protein

Duchenne Muscular Dystrophy (DMD) is a lethalmuscle disorder characterized by mutations in the DMD gene. These mutations primarily disrupt the reading frame, resulting in the absence of functional dystrophin protein. Exon skipping, which involves the use of antisense oligonucleotides is a promising therapeutic approach for DMD, and clinical trials on exon skipping are currently underway in DMD patients. Recently, stable and less-toxic antisense oligonucleotides with higher efficacy have been developed in mouse and dog models of DMD. This review highlights a new approach for antisense oligonucleotide-based therapeutics for DMD, particularly for exon skipping-based methods.

Anxiety, depression and stressful life events among medical students: a prospective study in Antalya, Turkey

2001 ◽  
Vol 35 (1) ◽  
pp. 12-17 ◽  
Author(s):  
Mehmet Aktekin ◽  
Taha Karaman ◽  
Yesim Yigiter Senol ◽  
Sukru Erdem ◽  
Hakan Erengin ◽  
...  
Keyword(s):  
Medical Students ◽  
Prospective Study ◽  
Life Events ◽  
Stressful Life Events ◽  
Stressful Life ◽  
A Prospective Study ◽  
Anxiety Depression
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