PubMed (OMIM) for id: 7020

Year	Number of Results
1982	1
1983	1
1987	2
1988	1
1990	1
1991	1
1992	4
1993	1
1994	2
1995	1
1996	5
1998	1
1999	2
2000	1
2001	2
2003	1
2005	2
2008	1
2009	3
2010	3
2013	2
2015	1
2016	1
2024	0

1

A Functional Variant Associated with Atrial Fibrillation Regulates PITX2c Expression through TFAP2a.

Ye J, Tucker NR, Weng LC, Clauss S, Lubitz SA, Ellinor PT. Ye J, et al. Am J Hum Genet. 2016 Dec 1;99(6):1281-1291. doi: 10.1016/j.ajhg.2016.10.001. Epub 2016 Nov 17. Am J Hum Genet. 2016. PMID: 27866707 Free PMC article.

2

Branchio-oculo-facial syndrome: a three generational family with markedly variable phenotype including neonatal lethality.

Titheradge HL, Patel C, Ragge NK. Titheradge HL, et al. Clin Dysmorphol. 2015 Jan;24(1):13-6. doi: 10.1097/MCD.0000000000000056. Clin Dysmorphol. 2015. PMID: 25325185

3

αTAT1 catalyses microtubule acetylation at clathrin-coated pits.

Montagnac G, Meas-Yedid V, Irondelle M, Castro-Castro A, Franco M, Shida T, Nachury MV, Benmerah A, Olivo-Marin JC, Chavrier P. Montagnac G, et al. Nature. 2013 Oct 24;502(7472):567-70. doi: 10.1038/nature12571. Epub 2013 Oct 6. Nature. 2013. PMID: 24097348 Free PMC article.

4

Inhibition of neural crest formation by Kctd15 involves regulation of transcription factor AP-2.

Zarelli VE, Dawid IB. Zarelli VE, et al. Proc Natl Acad Sci U S A. 2013 Feb 19;110(8):2870-5. doi: 10.1073/pnas.1300203110. Epub 2013 Feb 4. Proc Natl Acad Sci U S A. 2013. PMID: 23382213 Free PMC article.

5

Additional clinical and molecular analyses of TFAP2A in patients with the Branchio-Oculo-Facial syndrome: Previously reported patient.

Reiber J, Sznajer Y, Posteguillo EG, Müller D, Lyonnet S, Baumann C, Just W. Reiber J, et al. Am J Med Genet A. 2010 Aug;152A(8):2143. doi: 10.1002/ajmg.a.33512. Am J Med Genet A. 2010. PMID: 20635357 No abstract available.

6

Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome.

Reiber J, Sznajer Y, Posteguillo EG, Müller D, Lyonnet S, Baumann C, Just W. Reiber J, et al. Am J Med Genet A. 2010 Apr;152A(4):994-9. doi: 10.1002/ajmg.a.33331. Am J Med Genet A. 2010. PMID: 20358615

7

AP-2alpha knockout mice exhibit optic cup patterning defects and failure of optic stalk morphogenesis.

Bassett EA, Williams T, Zacharias AL, Gage PJ, Fuhrmann S, West-Mays JA. Bassett EA, et al. Hum Mol Genet. 2010 May 1;19(9):1791-804. doi: 10.1093/hmg/ddq060. Epub 2010 Feb 11. Hum Mol Genet. 2010. PMID: 20150232 Free PMC article.

8

Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies.

Stoetzel C, Riehm S, Bennouna Greene V, Pelletier V, Vigneron J, Leheup B, Marion V, Hellé S, Danse JM, Thibault C, Moulinier L, Veillon F, Dollfus H. Stoetzel C, et al. Am J Med Genet A. 2009 Oct;149A(10):2141-6. doi: 10.1002/ajmg.a.33015. Am J Med Genet A. 2009. PMID: 19764023

9

Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators.

Gestri G, Osborne RJ, Wyatt AW, Gerrelli D, Gribble S, Stewart H, Fryer A, Bunyan DJ, Prescott K, Collin JR, Fitzgerald T, Robinson D, Carter NP, Wilson SW, Ragge NK. Gestri G, et al. Hum Genet. 2009 Dec;126(6):791-803. doi: 10.1007/s00439-009-0730-x. Hum Genet. 2009. PMID: 19685247 Free PMC article.

10

A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child.

Tekin M, Sirmaci A, Yüksel-Konuk B, Fitoz S, Sennaroğlu L. Tekin M, et al. Am J Med Genet A. 2009 Mar;149A(3):427-30. doi: 10.1002/ajmg.a.32619. Am J Med Genet A. 2009. PMID: 19206157

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