Mutations in the sonic hedgehog pathway cause macrocephaly-associated conditions due to crosstalk to the PI3K/AKT/mTOR pathway.

Klein, Steven D; Nguyen, Dzung C; Bhakta, Viraj; Wong, Derek; Chang, Vivian Y; Davidson, Tom B; Martinez-Agosto, Julian A

Klein, Steven D; Nguyen, Dzung C; Bhakta, Viraj; Wong, Derek; Chang, Vivian Y; Davidson, Tom B; Martinez-Agosto, Julian A.

Afiliação

Klein SD; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California.
Nguyen DC; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California.
Bhakta V; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California.
Wong D; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California.
Chang VY; Division of Hematology-Oncology, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California.
Davidson TB; Jonsson Comprehensive Cancer Center, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California.
Martinez-Agosto JA; Division of Hematology-Oncology, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California.

Am J Med Genet A ; 179(12): 2517-2531, 2019 12.

Article em En | MEDLINE | ID: mdl-31639285

Assuntos

Proteínas Hedgehog/metabolismo; Megalencefalia/genética; Megalencefalia/metabolismo; Mutação; Fosfatidilinositol 3-Quinases/metabolismo; Proteínas Proto-Oncogênicas c-akt/metabolismo; Transdução de Sinais; Serina-Treonina Quinases TOR/metabolismo; Sistemas CRISPR-Cas; Linhagem Celular; Pré-Escolar; Feminino; Deleção de Genes; Haploinsuficiência; Humanos; Lactente; Masculino; Megalencefalia/diagnóstico; Modelos Biológicos; Células-Tronco Neurais

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transdução de Sinais / Fosfatidilinositol 3-Quinases / Proteínas Proto-Oncogênicas c-akt / Proteínas Hedgehog / Megalencefalia / Serina-Treonina Quinases TOR / Mutação Idioma: En Ano de publicação: 2019 Tipo de documento: Article

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