Genetic and genomic studies of pathogenic EXOSC2 mutations in the newly described disease SHRF implicate the autophagy pathway in disease pathogenesis.

Yang, Xue; Bayat, Vafa; DiDonato, Nataliya; Zhao, Yang; Zarnegar, Brian; Siprashvili, Zurab; Lopez-Pajares, Vanessa; Sun, Tao; Tao, Shiying; Li, Chenjian; Rump, Andreas; Khavari, Paul; Lu, Bingwei

Yang, Xue; Bayat, Vafa; DiDonato, Nataliya; Zhao, Yang; Zarnegar, Brian; Siprashvili, Zurab; Lopez-Pajares, Vanessa; Sun, Tao; Tao, Shiying; Li, Chenjian; Rump, Andreas; Khavari, Paul; Lu, Bingwei.

Afiliação

Yang X; Department travellers of Pathology, Stanford School of Medicine, Stanford, CA 94305, USA.
Bayat V; Department of Dermatology, Stanford School of Medicine, Stanford, CA 94305, USA.
DiDonato N; Program in Cancer Biology, Stanford School of Medicine, Stanford, CA 94305, USA.
Zhao Y; Department travellers of Pathology, Stanford School of Medicine, Stanford, CA 94305, USA.
Zarnegar B; Institute for Clinical Genetics, TU Dresden, Dresden, Germany.
Siprashvili Z; Department of Dermatology, Stanford School of Medicine, Stanford, CA 94305, USA.
Lopez-Pajares V; Department of Dermatology, Stanford School of Medicine, Stanford, CA 94305, USA.
Sun T; Department of Dermatology, Stanford School of Medicine, Stanford, CA 94305, USA.
Tao S; Department of Dermatology, Stanford School of Medicine, Stanford, CA 94305, USA.
Li C; Department of Genetics, Stanford School of Medicine, Stanford, CA 94305, USA.
Rump A; Department of Dermatology, Stanford School of Medicine, Stanford, CA 94305, USA.
Khavari P; School of Life Sciences, Peking University, Beijing 100871, China.
Lu B; Institute for Clinical Genetics, TU Dresden, Dresden, Germany.

Hum Mol Genet ; 29(4): 541-553, 2020 03 13.

Article em En | MEDLINE | ID: mdl-31628467

Assuntos

Complexo Multienzimático de Ribonucleases do Exossomo/genética; Proteínas de Ligação a RNA/genética; Animais; Autofagia/genética; Modelos Animais de Doenças; Drosophila/genética; Nanismo/genética; Complexo Multienzimático de Ribonucleases do Exossomo/metabolismo; Exossomos/metabolismo; Feminino; Genômica/métodos; Células HEK293; Perda Auditiva/genética; Humanos; Masculino; Mutação de Sentido Incorreto/genética; Fenótipo; RNA/metabolismo; Proteínas de Ligação a RNA/metabolismo; Retinose Pigmentar/genética; Síndrome

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Ligação a RNA / Complexo Multienzimático de Ribonucleases do Exossomo Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Animals / Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article

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