Predisposition to atrioventricular septal defects may be caused by SOX7 variants that impair interaction with GATA4
Author:
Funder
National Natural Science Foundation of China
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s00438-022-01859-5.pdf
Reference58 articles.
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3. Al Turki S, Manickaraj AK, Mercer CL, Gerety SS, Hitz MP, Lindsay S, D’Alessandro LC, Swaminathan GJ, Bentham J, Arndt AK, Louw J, Low J, Breckpot J, Gewillig M, Thienpont B, Abdul-Khaliq H, Harnack C, Hoff K, Kramer HH, Schubert S, Siebert R, Toka O, Cosgrove C, Watkins H, Lucassen AM, O’Kelly IM, Salmon AP, Bu’lock FA, Granados-Riveron J, Setchfield K, Thornborough C, Brook JD, Mulder B, Klaassen S, Bhattacharya S, Devriendt K, Fitzpatrick DF, Wilson DI, Mital S, Hurles ME (2014) Rare variants in NR2F2 cause congenital heart defects in humans. Am J Hum Genet 94:574–585
4. Ang YS, Rivas RN, Ribeiro AJS, Srivas R, Rivera J, Stone NR, Pratt K, Mohamed TMA, Fu JD, Spencer CI, Tippens ND, Li M, Narasimha A, Radzinsky E, Moon-Grady AJ, Yu H, Pruitt BL, Snyder MP, Srivastava D (2016) Disease model of GATA4 mutation reveals transcription factor cooperativity in human cardiogenesis. Cell 167:1734-1749.e1722
5. Barber JC, Rosenfeld JA, Foulds N, Laird S, Bateman MS, Thomas NS, Baker S, Maloney VK, Anilkumar A, Smith WE, Banks V, Ellingwood S, Kharbutli Y, Mehta L, Eddleman KA, Marble M, Zambrano R, Crolla JA, Lamb AN (2013) 8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients. Am J Med Genet A 161:487–500
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