| 1 | CECR2, DNMT3B, SMARCA4
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| Elevated H3K79 homocysteinylation causes abnormal gene expression during neural development and subsequent neural tube defects.
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| Zhang Q, Bai B, Mei X, Wan C, Cao H, Dan Li, Wang S, Zhang M, Wang Z, Wu J, Wang H, Huo J, Ding G, Zhao J, Xie Q, Wang L, Qiu Z, Zhao S, Zhang T.
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| Nat Commun 9(1):3436. doi: 10.1038/s41467-018-05451-7.
2018
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| 2 | CECR2, TET1
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| A mutation in the tuft mouse disrupts TET1 activity and alters the expression of genes that are crucial for neural tube closure.
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| Fong KS, Hufnagel RB, Khadka VS, Corley MJ, Maunakea AK, Fogelgren B, Ahmed ZM, Lozanoff S.
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| Dis Model Mech 9(5):585-96. doi: 10.1242/dmm.024109. Epub 2016 Mar 17.
2016
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| 3 | ATP6V1E1, CECR2, CES, SLC25A18
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| A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family.
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| Knijnenburg J, van Bever Y, Hulsman LO, van Kempen CA, Bolman GM, van Loon RL, Beverloo HB, van Zutven LJ.
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| Eur J Hum Genet 20(9):986-9. doi: 10.1038/ejhg.2012.43. Epub 2012 Mar 7.
2012
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| 4 | CECR2, SMARCA1, SMARCA5
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| CECR2 is involved in spermatogenesis and forms a complex with SNF2H in the testis.
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| Thompson PJ, Norton KA, Niri FH, Dawe CE, McDermid HE.
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| J Mol Biol 415(5):793-806. doi: 10.1016/j.jmb.2011.11.041. Epub 2011 Dec 2.
2012
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| 5 | CECR2, CES
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| A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family.
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| Knijnenburg J, van Bever Y, Hulsman LO, van Kempen CA, Bolman GM, van Loon RL, Beverloo HB, van Zutven LJ.
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| Eur J Hum Genet 20(9):986-9. doi: 10.1038/ejhg.2012.43. Epub 2012 Mar 7.
2012
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| 6 | CECR2
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| Role of chromatin remodeling gene Cecr2 in neurulation and inner ear development.
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| Dawe CE, Kooistra MK, Fairbridge NA, Pisio AC, McDermid HE.
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| Dev Dyn 240(2):372-83. doi: 10.1002/dvdy.22547.
2011
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| 7 | CECR2, CES
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| Cecr2 mutations causing exencephaly trigger misregulation of mesenchymal/ectodermal transcription factors.
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| Fairbridge NA, Dawe CE, Niri FH, Kooistra MK, King-Jones K, McDermid HE.
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| Birth Defects Res A Clin Mol Teratol 88(8):619-25. doi: 10.1002/bdra.20695.
2010
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| 8 | CECR2, SMARCA5
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| CECR2, a protein involved in neurulation, forms a novel chromatin remodeling complex with SNF2L.
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| Banting GS, Barak O, Ames TM, Burnham AC, Kardel MD, Cooch NS, Davidson CE, Godbout R, McDermid HE, Shiekhattar R.
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| Hum Mol Genet 14(4):513-24. Epub 2005 Jan 07. 2005
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| 9 | MAP1S, HEBP2, CECR2, LRPPRC, UXT
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| Sequence analysis of LRPPRC and its SEC1 domain interaction partners suggests roles in cytoskeletal organization, vesicular trafficking, nucleocytosolic shuttling, and chromosome activity.
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| Liu L, McKeehan WL.
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| Genomics 79(1):124-36. 2002
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| 10 | ADA2, ATP6V1E1, BID, CECR2, CECR3, CECR4, CECR5, CECR6, CECR7, CECR8, CECR9, CES, SLC25A18
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| Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere.
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| Footz TK, Brinkman-Mills P, Banting GS, Maier SA, Riazi MA, Bridgland L, Hu S, Birren B, Minoshima S, Shimizu N, Pan H, Nguyen T, Fang F, Fu Y, Ray L, Wu H, Shaull S, Phan S, Yao Z, Chen F, Huan A, Hu P, Wang Q, Loh P, Qi S, Roe BA, McDermid HE.
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| Genome Res 11(6):1053-70. 2001
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