Mice with missense and nonsense NF1 mutations display divergent phenotypes compared with human neurofibromatosis type I.

Li, Kairong; Turner, Ashley N; Chen, Min; Brosius, Stephanie N; Schoeb, Trenton R; Messiaen, Ludwine M; Bedwell, David M; Zinn, Kurt R; Anastasaki, Corina; Gutmann, David H; Korf, Bruce R; Kesterson, Robert A

Li, Kairong; Turner, Ashley N; Chen, Min; Brosius, Stephanie N; Schoeb, Trenton R; Messiaen, Ludwine M; Bedwell, David M; Zinn, Kurt R; Anastasaki, Corina; Gutmann, David H; Korf, Bruce R; Kesterson, Robert A.

Afiliación

Li K; Department of Genetics, The University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Turner AN; Department of Genetics, The University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Chen M; Department of Genetics, The University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Brosius SN; Department of Genetics, The University of Alabama at Birmingham, Birmingham, AL 35294, USA Medical Scientist Training Program, The University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Schoeb TR; Department of Genetics, The University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Messiaen LM; Department of Genetics, The University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Bedwell DM; Department of Biochemistry and Molecular Genetics, The University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Zinn KR; Department of Radiology, The University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Anastasaki C; Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA.
Gutmann DH; Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA.
Korf BR; Department of Genetics, The University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Kesterson RA; Department of Genetics, The University of Alabama at Birmingham, Birmingham, AL 35294, USA kesterso@uab.edu.

Dis Model Mech ; 9(7): 759-67, 2016 07 01.

Article en En | MEDLINE | ID: mdl-27482814

Asunto(s)

Codón sin Sentido/genética; Mutación Missense/genética; Neurofibromatosis 1/genética; Neurofibromina 1/genética; Animales; Modelos Animales de Enfermedad; Embrión de Mamíferos/patología; Humanos; Integrasas/metabolismo; Ratones; Neurofibroma/patología; Fenotipo; Nervio Ciático/patología; Nervio Ciático/ultraestructura; Médula Espinal/patología; Médula Espinal/ultraestructura

Palabras clave

Missense mutation; Neurofibromatosis type 1; Nonsense mutation; Patient-derived mouse models

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neurofibromatosis 1 / Codón sin Sentido / Mutación Missense / Neurofibromina 1 Límite: Animals / Humans Idioma: En Revista: Dis Model Mech Asunto de la revista: MEDICINA Año: 2016 Tipo del documento: Article País de afiliación: Estados Unidos

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