Mouse and human phenotypes indicate a critical conserved role for ERK2 signaling in neural crest development

Disrupted ERK1/2 (MAPK3/MAPK1) MAPK signaling has been associated with several developmental syndromes in humans; however, mutations in ERK1 or ERK2 have not been described. We demonstrate haplo-insufficient ERK2 expression in patients with a novel ≈1 Mb micro-deletion in distal 22q11.2, a region th...

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Dades bibliogràfiques
Autors principals: Newbern, Jason, Zhong, Jian, Wickramasinghe, Rasika S., Li, Xiaoyan, Wu, Yaohong, Samuels, Ivy, Cherosky, Natalie, Karlo, J. Colleen, O'Loughlin, Brianne, Wikenheiser, Jamie, Gargesha, Madhusudhana, Doughman, Yong Qiu, Charron, Jean, Ginty, David D., Watanabe, Michiko, Saitta, Sulagna C., Snider, William D., Landreth, Gary E.
Format: Artigo
Idioma:Inglês
Publicat: National Academy of Sciences 2008
Matèries:
Biological Sciences
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2579387/
https://ncbi.nlm.nih.gov/pubmed/18952847
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0805239105
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