Literature DB >> 9452067

Novel nonsense mutation (C-->A nt 10512) in exon 72 of dystrophin gene leading to exon skipping in a patient with a mild dystrophinopathy.

M A Melis1, F Muntoni, M Cau, D Loi, A Puddu, L Boccone, A Mateddu, C Cianchetti, A Cao.   

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Year:  1998        PMID： 9452067     DOI： 10.1002/humu.1380110146

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  9 in total

1.  Splicing analysis disclosed a determinant single nucleotide for exon skipping caused by a novel intraexonic four-nucleotide deletion in the dystrophin gene.

Authors:  Van Khanh Tran; Yasuhiro Takeshima; Zhujun Zhang; Mariko Yagi; Atsushi Nishiyama; Yasuaki Habara; Masafumi Matsuo
Journal:  J Med Genet       Date:  2006-05-31       Impact factor: 6.318

2.  Identification of small molecule and genetic modulators of AON-induced dystrophin exon skipping by high-throughput screening.

Authors:  Debra A O'Leary; Orzala Sharif; Paul Anderson; Buu Tu; Genevieve Welch; Yingyao Zhou; Jeremy S Caldwell; Ingo H Engels; Achim Brinker
Journal:  PLoS One       Date:  2009-12-17       Impact factor: 3.240

3.  Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.

Authors:  Kevin M Flanigan; Diane M Dunn; Andrew von Niederhausern; Payam Soltanzadeh; Michael T Howard; Jacinda B Sampson; Kathryn J Swoboda; Mark B Bromberg; Jerry R Mendell; Laura E Taylor; Christine B Anderson; Alan Pestronk; Julaine M Florence; Anne M Connolly; Katherine D Mathews; Brenda Wong; Richard S Finkel; Carsten G Bonnemann; John W Day; Craig McDonald; Robert B Weiss
Journal:  Hum Mutat       Date:  2011-03       Impact factor: 4.878

4.  Evidence in disease and non-disease contexts that nonsense mutations cause altered splicing via motif disruption.

Authors:  Liam Abrahams; Rosina Savisaar; Christine Mordstein; Bethan Young; Grzegorz Kudla; Laurence D Hurst
Journal:  Nucleic Acids Res       Date:  2021-09-27       Impact factor: 16.971

5.  Low-level dystrophin expression attenuating the dystrophinopathy phenotype.

Authors:  Megan A Waldrop; Felecia Gumienny; Saleh El Husayni; Diane E Frank; Robert B Weiss; Kevin M Flanigan
Journal:  Neuromuscul Disord       Date:  2017-11-23       Impact factor: 3.538

6.  Massive idiosyncratic exon skipping corrects the nonsense mutation in dystrophic mouse muscle and produces functional revertant fibers by clonal expansion.

Authors:  Q L Lu; G E Morris; S D Wilton; T Ly; O V Artem'yeva; P Strong; T A Partridge
Journal:  J Cell Biol       Date:  2000-03-06       Impact factor: 10.539

7.  Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.

Authors:  Jonàs Juan-Mateu; Lidia González-Quereda; Maria José Rodríguez; Edgard Verdura; Kira Lázaro; Cristina Jou; Andrés Nascimento; Cecilia Jiménez-Mallebrera; Jaume Colomer; Soledad Monges; Fabiana Lubieniecki; Maria Eugenia Foncuberta; Samuel Ignacio Pascual-Pascual; Jesús Molano; Montserrat Baiget; Pia Gallano
Journal:  PLoS One       Date:  2013-03-25       Impact factor: 3.240

8.  Genome-wide association study to identify potential genetic modifiers in a canine model for Duchenne muscular dystrophy.

Authors:  Candice Brinkmeyer-Langford; Cynthia Balog-Alvarez; James J Cai; Brian W Davis; Joe N Kornegay
Journal:  BMC Genomics       Date:  2016-08-22       Impact factor: 3.969

Review 9.  Dystrophin Dp71 and the Neuropathophysiology of Duchenne Muscular Dystrophy.

Authors:  Michael Naidoo; Karen Anthony
Journal:  Mol Neurobiol       Date:  2019-12-13       Impact factor: 5.590
  9 in total

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