Kleinjan DA - Search Results

1

Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence.

Gordon CT, Attanasio C, Bhatia S, Benko S, Ansari M, Tan TY, Munnich A, Pennacchio LA, Abadie V, Temple IK, Goldenberg A, van Heyningen V, Amiel J, FitzPatrick D, Kleinjan DA, Visel A, Lyonnet S. Gordon CT, et al. Among authors: kleinjan da. Hum Mutat. 2014 Aug;35(8):1011-20. doi: 10.1002/humu.22606. Hum Mutat. 2014. PMID: 24934569 Free PMC article.

2

Functional assessment of disease-associated regulatory variants in vivo using a versatile dual colour transgenesis strategy in zebrafish.

Bhatia S, Gordon CT, Foster RG, Melin L, Abadie V, Baujat G, Vazquez MP, Amiel J, Lyonnet S, van Heyningen V, Kleinjan DA. Bhatia S, et al. Among authors: kleinjan da. PLoS Genet. 2015 Jun 1;11(6):e1005193. doi: 10.1371/journal.pgen.1005193. eCollection 2015 Jun. PLoS Genet. 2015. PMID: 26030420 Free PMC article.

3

Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence.

Rainger JK, Bhatia S, Bengani H, Gautier P, Rainger J, Pearson M, Ansari M, Crow J, Mehendale F, Palinkasova B, Dixon MJ, Thompson PJ, Matarin M, Sisodiya SM, Kleinjan DA, Fitzpatrick DR. Rainger JK, et al. Among authors: kleinjan da. Hum Mol Genet. 2014 May 15;23(10):2569-79. doi: 10.1093/hmg/ddt647. Epub 2013 Dec 20. Hum Mol Genet. 2014. PMID: 24363063 Free PMC article.

4

Long-range control of gene expression: emerging mechanisms and disruption in disease.

Kleinjan DA, van Heyningen V. Kleinjan DA, et al. Am J Hum Genet. 2005 Jan;76(1):8-32. doi: 10.1086/426833. Epub 2004 Nov 17. Am J Hum Genet. 2005. PMID: 15549674 Free PMC article. Review.

5

Disruption of long-range gene regulation in human genetic disease: a kaleidoscope of general principles, diverse mechanisms and unique phenotypic consequences.

Bhatia S, Kleinjan DA. Bhatia S, et al. Among authors: kleinjan da. Hum Genet. 2014 Jul;133(7):815-45. doi: 10.1007/s00439-014-1424-6. Epub 2014 Feb 5. Hum Genet. 2014. PMID: 24496500 Review.

6

Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia.

Bhatia S, Bengani H, Fish M, Brown A, Divizia MT, de Marco R, Damante G, Grainger R, van Heyningen V, Kleinjan DA. Bhatia S, et al. Among authors: kleinjan da. Am J Hum Genet. 2013 Dec 5;93(6):1126-34. doi: 10.1016/j.ajhg.2013.10.028. Epub 2013 Nov 27. Am J Hum Genet. 2013. PMID: 24290376 Free PMC article. Review.

7

DNaseI hypersensitivity and ultraconservation reveal novel, interdependent long-range enhancers at the complex Pax6 cis-regulatory region.

McBride DJ, Buckle A, van Heyningen V, Kleinjan DA. McBride DJ, et al. Among authors: kleinjan da. PLoS One. 2011;6(12):e28616. doi: 10.1371/journal.pone.0028616. Epub 2011 Dec 29. PLoS One. 2011. PMID: 22220192 Free PMC article.

8

Discovery and assessment of conserved Pax6 target genes and enhancers.

Coutinho P, Pavlou S, Bhatia S, Chalmers KJ, Kleinjan DA, van Heyningen V. Coutinho P, et al. Among authors: kleinjan da. Genome Res. 2011 Aug;21(8):1349-59. doi: 10.1101/gr.124115.111. Epub 2011 May 26. Genome Res. 2011. PMID: 21617155 Free PMC article.

9

A survey of ancient conserved non-coding elements in the PAX6 locus reveals a landscape of interdigitated cis-regulatory archipelagos.

Bhatia S, Monahan J, Ravi V, Gautier P, Murdoch E, Brenner S, van Heyningen V, Venkatesh B, Kleinjan DA. Bhatia S, et al. Among authors: kleinjan da. Dev Biol. 2014 Mar 15;387(2):214-28. doi: 10.1016/j.ydbio.2014.01.007. Epub 2014 Jan 17. Dev Biol. 2014. PMID: 24440152 Free article.

10

Conserved elements in Pax6 intron 7 involved in (auto)regulation and alternative transcription.

Kleinjan DA, Seawright A, Childs AJ, van Heyningen V. Kleinjan DA, et al. Dev Biol. 2004 Jan 15;265(2):462-77. doi: 10.1016/j.ydbio.2003.09.011. Dev Biol. 2004. PMID: 14732405 Free article.

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