Concepedia

Rna Splicing Defects

RNA Splicing Defects is a molecular pathology characterized by aberrant processing of pre-messenger RNA, wherein the removal of introns and joining of exons deviates from the canonical splicing pattern, leading to nonfunctional or deleterious protein isoforms in the context of muscular dystrophy.

970

Publications

69.4K

Citations

6.6K

Authors

1.7K

Institutions

Publications per year

2017–2026

282

Parents

Publications

970

A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2

U. R. Monani · Human Molecular Genetics · 1999 · 944 citations

, , +12

Disruption of Splicing Regulated by a CUG-Binding Protein in Myotonic Dystrophy

Anne V. Philips, Lubov Timchenko, Thomas A. Cooper · Science · 1998 · 818 citations

, , +17

A Muscleblind Knockout Model for Myotonic Dystrophy

Rahul Kanadia, Karen A. Johnstone, Ami Mankodi et al. · Science · 2003 · 748 citations

, , +16

Expanded CUG Repeats Trigger Aberrant Splicing of ClC-1 Chloride Channel Pre-mRNA and Hyperexcitability of Skeletal Muscle in Myotonic Dystrophy

Ami Mankodi, Masanori Takahashi, Hong Jiang et al. · Molecular Cell · 2002 · 666 citations · Full text

, , +13

DHX9 suppresses RNA processing defects originating from the Alu invasion of the human genome

Tuğçe Aktaş, Daniel Maticzka, Vivek Bhardwaj et al. · Nature · 2017 · 656 citations

, , +6

1–5 of 970

Authors

6.6K

  1. CA
    Charles A. Thornton

    University of Rochester, United States

    21 publications · 5.2K citations

    20

    h-index

  2. MN
    Masayuki Nakamori

    The University of Osaka, Japan

    18 publications · 1.8K citations

    17

    h-index

  3. TA
    Thomas A. Cooper

    Baylor College of Medicine, United States

    16 publications · 2.4K citations

    15

    h-index

  4. MS
    Maurice S. Swanson

    University of Florida, United States

    15 publications · 3.8K citations

    15

    h-index

  5. KS
    Krzysztof Sobczak

    Adam Mickiewicz University in Poznań, Poland

    16 publications · 1.6K citations

    15

    h-index

1–5 of 6.6K

Institutions

1.7K

  1. Inserm

    Paris, France

    36 h-index

    395 publications

    33K citations

  2. Centre National de la Recherche Scientifique

    Paris, France

    27 h-index

    182 publications

    18.3K citations

  3. Harvard University

    Cambridge, United States

    27 h-index

    123 publications

    11.9K citations

  4. Howard Hughes Medical Institute

    Chevy Chase, United States

    25 h-index

    87 publications

    21.9K citations

  5. University of Florida

    Gainesville, United States

    24 h-index

    112 publications

    20.9K citations

  6. Sorbonne Université

    Paris, France

    23 h-index

    136 publications

    9.4K citations

  7. Université Paris Cité

    Paris, France

    22 h-index

    70 publications

    5.1K citations

  8. Columbia University

    New York, United States

    21 h-index

    72 publications

    5.6K citations

1–8 of 1.7K

Venues

  1. Human Molecular Genetics

    70 publications · 8.3K citations

    46

    h-index

  2. Proceedings of the National Academy of Sciences

    PNAS · 44 publications · 7.5K citations

    39

    h-index

  3. Human Mutation

    51 publications · 2.6K citations

    31

    h-index

  4. Journal of Biological Chemistry

    JBC · 36 publications · 1.9K citations

    27

    h-index

  5. Nucleic Acids Research

    32 publications · 2.1K citations

    26

    h-index

1–5