Characterization of functionally deficient SIM2 variants found in patients with neurological phenotypes.

Button, Emily L; Rossi, Joseph J; McDougal, Daniel P; Bruning, John B; Peet, Daniel J; Bersten, David C; Rosenfeld, Jill A; Whitelaw, Murray L

Button, Emily L; Rossi, Joseph J; McDougal, Daniel P; Bruning, John B; Peet, Daniel J; Bersten, David C; Rosenfeld, Jill A; Whitelaw, Murray L.

Afiliación

Button EL; Department of Molecular and Biomedical Science, University of Adelaide, Adelaide, Australia.
Rossi JJ; Department of Molecular and Biomedical Science, University of Adelaide, Adelaide, Australia.
McDougal DP; Department of Molecular and Biomedical Science, University of Adelaide, Adelaide, Australia.
Bruning JB; Department of Molecular and Biomedical Science, University of Adelaide, Adelaide, Australia.
Peet DJ; Institute of Photonics and Advanced Sensing, School of Biological Sciences, University of Adelaide, Adelaide, Australia.
Bersten DC; Department of Molecular and Biomedical Science, University of Adelaide, Adelaide, Australia.
Rosenfeld JA; Department of Molecular and Biomedical Science, University of Adelaide, Adelaide, Australia.
Whitelaw ML; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, U.S.A.

Biochem J ; 479(13): 1441-1454, 2022 07 15.

Article en En | MEDLINE | ID: mdl-35730699

Asunto(s)

Factores de Transcripción con Motivo Hélice-Asa-Hélice Básico; Síndrome de Down; Animales; Translocador Nuclear del Receptor de Aril Hidrocarburo/genética; Translocador Nuclear del Receptor de Aril Hidrocarburo/metabolismo; Factores de Transcripción con Motivo Hélice-Asa-Hélice Básico/genética; Factores de Transcripción con Motivo Hélice-Asa-Hélice Básico/metabolismo; Núcleo Celular/metabolismo; Síndrome de Down/metabolismo; Humanos; Mamíferos/metabolismo; Ratones; Fenotipo; Receptores de Hidrocarburo de Aril/metabolismo; Factores de Transcripción/metabolismo

Palabras clave

aryl hydrocarbon nuclear receptor translocator; mutation; single-minded 2; single-nucleotide polymorphisms; transcription factors

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Síndrome de Down / Factores de Transcripción con Motivo Hélice-Asa-Hélice Básico Tipo de estudio: Prognostic_studies Límite: Animals / Humans Idioma: En Revista: Biochem J Año: 2022 Tipo del documento: Article País de afiliación: Australia

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