{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Ghassibe-Sabbagh M"],"funding":["NIDCR NIH HHS"],"pagination":["150-61"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC3035709"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["88(2)"],"pubmed_abstract":["Cranial neural crest (CNC) is a multipotent migratory cell population that gives rise to most of the craniofacial bones. An intricate network mediates CNC formation, epithelial-mesenchymal transition, migration along distinct paths, and differentiation. Errors in these processes lead to craniofacial abnormalities, including cleft lip and palate. Clefts are the most common congenital craniofacial defects. Patients have complications with feeding, speech, hearing, and dental and psychological development. Affected by both genetic predisposition and environmental factors, the complex etiology of clefts remains largely unknown. Here we show that Fas-associated factor-1 (FAF1) is disrupted and that its expression is decreased in a Pierre Robin family with an inherited translocation. Furthermore"],"journal":["American journal of human genetics"],"pubmed_title":["FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish."],"pmcid":["PMC3035709"],"funding_grant_id":["R37 DE008559"],"pubmed_authors":["Ludwig KU","Noethen M","Mansilla MA","Carmeliet P","Vikkula M","Desmyter L","Mossey PA","Ferrian M","Baluardo C","Nowak S","Mangold E","Dewerchin M","Murray J","Langenberg T","Francois G","Vanwijck R","Rubini M","Hermans K","Claes F","Hecht J","Boute O","Bayet B","Vermeesch JR","Pellerin P","Imoehl S","Poirel HA","Ghassibe-Sabbagh M","Backx L","Revencu N"],"additional_accession":[]},"is_claimable":false,"name":"FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish.","description":"Cranial neural crest (CNC) is a multipotent migratory cell population that gives rise to most of the craniofacial bones. An intricate network mediates CNC formation, epithelial-mesenchymal transition, migration along distinct paths, and differentiation. Errors in these processes lead to craniofacial abnormalities, including cleft lip and palate. Clefts are the most common congenital craniofacial defects. Patients have complications with feeding, speech, hearing, and dental and psychological development. Affected by both genetic predisposition and environmental factors, the complex etiology of clefts remains largely unknown. Here we show that Fas-associated factor-1 (FAF1) is disrupted and that its expression is decreased in a Pierre Robin family with an inherited translocation. Furthermore","dates":{"release":"2011-01-01T00:00:00Z","publication":"2011 Feb","modification":"2026-07-15T10:34:47.769Z","creation":"2025-07-24T03:04:42.526Z"},"accession":"S-EPMC3035709","cross_references":{"pubmed":["21295280"],"doi":["10.1016/j.ajhg.2011.01.003"]}}