{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Newbern J"],"funding":["Howard Hughes Medical Institute","NHLBI NIH HHS","NIMH NIH HHS","NINDS NIH HHS"],"pagination":["17115-20"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC2579387"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["105(44)"],"pubmed_abstract":["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 perturbation of neural crest development and exhibit defects comparable to the DiGeorge syndrome spectrum. Remarkably, these defects are replicated in mice by conditional inactivation of ERK2 in the developing neural crest. Inactivation of upstream elements of the ERK cascade (B-Raf and C-Raf, MEK1 and MEK2) or a downstream effector, the transcription factor serum response factor resulted"],"journal":["Proceedings of the National Academy of Sciences of the United States of America"],"pubmed_title":["Mouse and human phenotypes indicate a critical conserved role for ERK2 signaling in neural crest development."],"pmcid":["PMC2579387"],"funding_grant_id":["F32 NS061591","HL080637","R21 HL080637","R37 NS034814","P50 HL074731","R01 NS034814","R01 NS031768","NS34814","HL074731","F31-MH074241","F31 MH074241","NS031768"],"pubmed_authors":["Doughman YQ","Cherosky N","Landreth GE","Charron J","Samuels I","Snider WD","Li X","O'Loughlin B","Gargesha M","Wickramasinghe RS","Watanabe M","Karlo JC","Saitta SC","Newbern J","Zhong J","Wikenheiser J","Wu Y","Ginty DD"],"additional_accession":[]},"is_claimable":false,"name":"Mouse and human phenotypes indicate a critical conserved role for ERK2 signaling in neural crest development.","description":"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 perturbation of neural crest development and exhibit defects comparable to the DiGeorge syndrome spectrum. Remarkably, these defects are replicated in mice by conditional inactivation of ERK2 in the developing neural crest. Inactivation of upstream elements of the ERK cascade (B-Raf and C-Raf, MEK1 and MEK2) or a downstream effector, the transcription factor serum response factor resulted","dates":{"release":"2008-01-01T00:00:00Z","publication":"2008 Nov","modification":"2025-04-22T11:15:50.522Z","creation":"2019-03-27T00:19:15Z"},"accession":"S-EPMC2579387","cross_references":{"pubmed":["18952847"],"doi":["10.1073/pnas.0805239105"]}}