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

doi:10.1073/pnas.0805239105

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Article

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

Proceedings of the National Academy of Sciences of the United States of America - 4 Nov 2008

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

Abstract excerpt

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 approximately 1 Mb micro-deletion in distal 22q11.2, a region that includes ERK2. These patients exhibit conotruncal and craniofacial anomalies that arise from...

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Identifiers

PMID: 18952847
DOI: 10.1073/pnas.0805239105
PMCID: PMC2579387

Genes

MAPK1
MAPK3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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