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Functional analysis of ESRP1/2 gene variants and CTNND1 isoforms in orofacial cleft pathogenesis.

Autor: da Silva CC; Center for Craniofacial Innovation, Division of Plastic and Reconstructive Surgery, Department of Surgery, Children's Hospital of Philadelphia, PA, USA., Trevino CM; Harvard Medical School, Boston, MA, USA., Mitchell J; Massachusetts General Hospital, Boston, MA, USA., Murali H; Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Tsimbal C; Center for Craniofacial Innovation, Division of Plastic and Reconstructive Surgery, Department of Surgery, Children's Hospital of Philadelphia, PA, USA.; Shriners Hospital for Children, Tampa, FL, USA., Dalessandro E; Center for Craniofacial Innovation, Division of Plastic and Reconstructive Surgery, Department of Surgery, Children's Hospital of Philadelphia, PA, USA., Carroll SH; Center for Craniofacial Innovation, Division of Plastic and Reconstructive Surgery, Department of Surgery, Children's Hospital of Philadelphia, PA, USA.; Shriners Hospital for Children, Tampa, FL, USA., Kochhar S; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., Curtis SW; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., Cheng CHE; Center for Craniofacial Innovation, Division of Plastic and Reconstructive Surgery, Department of Surgery, Children's Hospital of Philadelphia, PA, USA., Wang F; Center for Genomic Medicine, Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, PA, USA., Kutschera E; Center for Genomic Medicine, Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, PA, USA., Carstens RP; Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Xing Y; Center for Genomic Medicine, Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Wang K; Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Leslie EJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., Liao EC; Center for Craniofacial Innovation, Division of Plastic and Reconstructive Surgery, Department of Surgery, Children's Hospital of Philadelphia, PA, USA.; Harvard Medical School, Boston, MA, USA.; Shriners Hospital for Children, Tampa, FL, USA.; Department of Surgery, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.

Publikováno v: BioRxiv : the preprint server for biology [bioRxiv] 2024 Jul 02. Date of Electronic Publication: 2024 Jul 02.

ALX1-related frontonasal dysplasia results from defective neural crest cell development and migration.

Autor: Pini J, Kueper J, Hu YD, Kawasaki K, Yeung P, Tsimbal C, Yoon B, Carmichael N, Maas RL, Cotney J, Grinblat Y, Liao EC

Publikováno v: EMBO molecular medicine [EMBO Mol Med] 2022 Jul 07; Vol. 14 (7), pp. e16289.