De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis.

Timberlake, Andrew T; Furey, Charuta G; Choi, Jungmin; Nelson-Williams, Carol; Loring, Erin; Galm, Amy; Kahle, Kristopher T; Steinbacher, Derek M; Larysz, Dawid; Persing, John A; Lifton, Richard P

Timberlake, Andrew T; Furey, Charuta G; Choi, Jungmin; Nelson-Williams, Carol; Loring, Erin; Galm, Amy; Kahle, Kristopher T; Steinbacher, Derek M; Larysz, Dawid; Persing, John A; Lifton, Richard P.

Afiliación

Timberlake AT; Department of Genetics, Yale University School of Medicine, New Haven, CT 06510.
Furey CG; Section of Plastic and Reconstructive Surgery, Yale University School of Medicine, New Haven, CT 06510.
Choi J; Department of Genetics, Yale University School of Medicine, New Haven, CT 06510.
Nelson-Williams C; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510.
Loring E; Department of Genetics, Yale University School of Medicine, New Haven, CT 06510.
Kahle KT; Department of Genetics, Yale University School of Medicine, New Haven, CT 06510.
Steinbacher DM; Craniosynostosis and Positional Plagiocephaly Support, New York, NY 10010.
Larysz D; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510.
Persing JA; Section of Plastic and Reconstructive Surgery, Yale University School of Medicine, New Haven, CT 06510.
Lifton RP; Department of Radiotherapy, The Maria Sklodowska Curie Memorial Cancer Centre and Institute of Oncology, 44-101 Gliwice, Poland.

Proc Natl Acad Sci U S A ; 114(35): E7341-E7347, 2017 08 29.

Article en En | MEDLINE | ID: mdl-28808027

Asunto(s)

Craneosinostosis/genética; Craneosinostosis/fisiopatología; Adulto; Animales; Proteínas Morfogenéticas Óseas/antagonistas & inhibidores; Proteínas Morfogenéticas Óseas/genética; Proteínas Morfogenéticas Óseas/metabolismo; Niño; Preescolar; Suturas Craneales; Craneosinostosis/metabolismo; Exoma/genética; Femenino; Humanos; Sistema de Señalización de MAP Quinasas/genética; Sistema de Señalización de MAP Quinasas/fisiología; Masculino; Mutación/genética; Osteogénesis/genética; Penetrancia; Fenotipo; Análisis de Secuencia de ADN/métodos; Transducción de Señal; Proteína smad6/genética; Proteína smad6/fisiología; Secuenciación del Exoma/métodos; Proteínas ras/antagonistas & inhibidores; Proteínas ras/genética; Proteínas ras/metabolismo

Palabras clave

BMP signaling; Ras/ERK signaling; Wnt signaling; craniosynostosis; de novo mutation

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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Craneosinostosis Tipo de estudio: Prognostic_studies Idioma: En Revista: Proc Natl Acad Sci U S A Año: 2017 Tipo del documento: Article

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