A novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy.

Dwianingsih, Ery Kus; Malueka, Rusdy Ghazali; Nishida, Atsushi; Itoh, Kyoko; Lee, Tomoko; Yagi, Mariko; Iijima, Kazumoto; Takeshima, Yasuhiro; Matsuo, Masafumi

Dwianingsih, Ery Kus; Malueka, Rusdy Ghazali; Nishida, Atsushi; Itoh, Kyoko; Lee, Tomoko; Yagi, Mariko; Iijima, Kazumoto; Takeshima, Yasuhiro; Matsuo, Masafumi.

Afiliação

Dwianingsih EK; Department of Pediatrics, Graduate School of Medicine, Kobe University, Kobe, Japan.
Malueka RG; Department of Medical Rehabilitation, Faculty of Rehabilitation, Kobegakuin University, Kobe, Japan.
Nishida A; Department of Medical Rehabilitation, Faculty of Rehabilitation, Kobegakuin University, Kobe, Japan.
Itoh K; Department of Pathology and Applied Neurobiology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Lee T; Department of Pediatrics, Graduate School of Medicine, Kobe University, Kobe, Japan.
Yagi M; Department of Pediatrics, Graduate School of Medicine, Kobe University, Kobe, Japan.
Iijima K; Department of Pediatrics, Graduate School of Medicine, Kobe University, Kobe, Japan.
Takeshima Y; Department of Pediatrics, Graduate School of Medicine, Kobe University, Kobe, Japan.
Matsuo M; Department of Medical Rehabilitation, Faculty of Rehabilitation, Kobegakuin University, Kobe, Japan.

J Hum Genet ; 59(8): 423-9, 2014 Aug.

Article em En | MEDLINE | ID: mdl-24871807

Assuntos

Distrofina/genética; Músculo Esquelético/metabolismo; Distrofia Muscular de Duchenne/genética; Splicing de RNA/genética; Elementos Silenciadores Transcricionais/genética; Sequência de Bases; Criança; Distrofina/metabolismo; Éxons/genética; Mutação da Fase de Leitura; Humanos; Imuno-Histoquímica; Masculino; Dados de Sequência Molecular; Motivos de Nucleotídeos; Oligonucleotídeos Antissenso; Fenótipo; Precursores de RNA/genética; RNA Mensageiro/genética; Reação em Cadeia da Polimerase em Tempo Real; Análise de Sequência de DNA; Deleção de Sequência

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Splicing de RNA / Distrofina / Músculo Esquelético / Distrofia Muscular de Duchenne / Elementos Silenciadores Transcricionais Tipo de estudo: Prognostic_studies Limite: Child / Humans / Male Idioma: En Ano de publicação: 2014 Tipo de documento: Article

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