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Heart defects in charge syndrome11/5/2023 Many CHARGE patients have aortic arch anomalies. ![]() Furthermore, the length of the ventral aorta is altered in chd7 mutants. In the chd7 mutant fish, we found shortened craniofacial cartilages and extra cartilage formation. These mutant phenotypes are enhanced in the maternal zygotic mutant background. Here, we describe the co-occurrence of craniofacial abnormalities and heart defects in zebrafish chd7 mutants. Animal models have been generated to mimic CHARGE syndrome however, heart defects are not extensively described in zebrafish disease models of CHARGE using morpholino injections or genetic mutants. 6Department of Biochemistry and Molecular Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, United StatesĬongenital heart defects occur in almost 80% of patients with CHARGE syndrome, a sporadically occurring disease causing craniofacial and other abnormalities due to mutations in the CHD7 gene.5Eli and Edythe Broad CIRM Center for Regenerative Medicine and Stem Cell Research, Keck School of Medicine, University of Southern California, Los Angeles, CA, United States.4State Key Laboratory of Chemical Oncogenomics, Key Laboratory of Chemical Genomics, Peking University Shenzhen Graduate School, Shenzhen, China.3Department of Surgery, Keck School of Medicine, University of Southern California, Los Angeles, CA, United States.2Center for Craniofacial Molecular Biology, Ostrow School of Dentistry, University of Southern California, Los Angeles, CA, United States.1Saban Research Institute and Heart Institute, Children’s Hospital Los Angeles, Los Angeles, CA, United States.Gage Crump 5 Ruchi Bajpai 2,6 Ching Ling Lien 1,3,6* Ram Kumar 1,3 Chee Ern David Wong 1 Zhiyu Tian 1 Haipeng Bai 1,4 J.
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