Research output per year
Research output per year
Search results
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2019
Lampreys, the jawless vertebrates, contain three Pax6 genes with distinct expression in eye, brain and pancreas
Ravi, V., Bhatia, S., Shingate, P., Tay, B-H., Venkatesh, B. & Kleinjan, D. A., 20 Dec 2019, In: Scientific Reports. 9, 1, 19559.Research output: Contribution to journal › Article › peer-review
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2018
A conditional Pax6 depletion study with no morphological effect on the adult mouse corneal epithelium
Dora, N., Manuel, M., Kleinjan, D., Price, D., Collinson, J. M., Hill, R. E. & West, J., 5 Oct 2018, In: BMC Research Notes.Research output: Contribution to journal › Article › peer-review
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Functional characteristics of novel pancreatic Pax6 regulatory elements
Buckle, A., Nozawa, R., Kleinjan, D. A. & Gilbert, N., 1 Oct 2018, In: Human Molecular Genetics. 27, 19, p. 3434–3448 15 p.Research output: Contribution to journal › Article › peer-review
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2017
Drug-tunable multidimensional synthetic gene control using inducible degron-tagged dCas9 effectors
Kleinjan, D. A., Wardrope, C., Nga Sou, S. & Rosser, S. J., 30 Oct 2017, In: Nature Communications. 8, 1, 1191.Research output: Contribution to journal › Article › peer-review
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2015
Functional Assessment of Disease-Associated Regulatory Variants In Vivo Using a Versatile Dual Colour Transgenesis Strategy in Zebrafish
Bhatia, S., Gordon, C. T., Foster, R. G., Melin, L., Abadie, V., Baujat, G., Vazquez, M-P., Amiel, J., Lyonnet, S., Heyningen, V. V. & Kleinjan, D. A., 1 Jun 2015, In: PLoS Genetics. 11, 6, e1005193.Research output: Contribution to journal › Article › peer-review
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2014
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, D. A., 15 Mar 2014, In: Developmental Biology. 387, 2, p. 214-228 15 p.Research output: Contribution to journal › Article › peer-review
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Disruption of long-range gene regulation in human genetic disease: a kaleidoscope of general principles, diverse mechanisms and unique phenotypic consequences
Bhatia, S. & Kleinjan, D. A., Jul 2014, In: Human Genetics. 133, 7, p. 815-845 31 p.Research output: Contribution to journal › Literature review › peer-review
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Genomic profiling of type-1 adult diabetic and aged normoglycemic mouse liver
Ghiraldini, F. G., Silveira, A. B., Kleinjan, D-J., Gilbert, N. & Mello, M. L. S., 3 Mar 2014, In: BMC Endocrine Disorders. 14, p. 19Research output: Contribution to journal › Article › peer-review
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Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence
Gordon, C. T., Attanasio, C., Bhatia, S., Benko, S., Ansari, M., Tan, T. Y., Munnich, A., Pennacchio, L. A., Abadie, V., Temple, I. K., Goldenberg, A., van Heyningen, V., Amiel, J., FitzPatrick, D., Kleinjan, D. A., Visel, A. & Lyonnet, S., Aug 2014, In: Human Mutation. 35, 8, p. 1011-20 10 p.Research output: Contribution to journal › Article › peer-review
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2013
Disruption of Autoregulatory Feedback by a Mutation in a Remote, Ultraconserved PAX6 Enhancer Causes Aniridia
Bhatia, S., Bengani, H., Fish, M., Brown, A., Divizia, M. T., de Marco, R., Damante, G., Grainger, R., van Heyningen, V. & Kleinjan, D. A., 5 Dec 2013, In: American Journal of Human Genetics. 93, 6, p. 1126-1134 9 p.Research output: Contribution to journal › Article › peer-review
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Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin Sequence
Rainger, J. K., Bhatia, S., Bengani, H., Gautier, P., Rainger, J., Pearson, M., Ansari, M., Crow, J., Mehendale, F., Palinkasova, B., Dixon, M. J., Thompson, P. J., Matarin, M., Sisodiya, S. M., Kleinjan, D. A. & Fitzpatrick, D. R., 20 Dec 2013, In: Human Molecular Genetics.Research output: Contribution to journal › Article › peer-review
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Identification of Genomic Regions Regulating Pax6 Expression in Embryonic Forebrain Using YAC Reporter Transgenic Mouse Lines
Mi, D., Huang, Y-T., Kleinjan, D. A., Mason, J. O. & Price, D. J., 6 Nov 2013, In: PLoS ONE. 8, 11, p. e80208Research output: Contribution to journal › Article › peer-review
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Sequencing of Pax6 loci from the elephant shark reveals a family of Pax6 genes in vertebrate genomes, forged by ancient duplications and divergences
Ravi, V., Bhatia, S., Gautier, P., Loosli, F., Tay, B-H., Tay, A., Murdoch, E., Coutinho, P., van Heyningen, V., Brenner, S., Venkatesh, B. & Kleinjan, D. A., 24 Jan 2013, In: PLoS Genetics. 9, 1, p. e1003177Research output: Contribution to journal › Article › peer-review
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The developmental regulator Pax6 is essential for maintenance of islet cell function in the adult mouse pancreas
Hart, A. W., Mella, S., Mendrychowski, J., van Heyningen, V. & Kleinjan, D. A., 11 Jan 2013, In: PLoS ONE. 8, 1, p. e54173Research output: Contribution to journal › Article › peer-review
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2012
Pax6 is essential for maintenance of islet cell function in adult mice: Mouse Models of Disease, Sanger, February 2012
Hart, A., Van Heyningen, V., Kleinjan, D-J., Mella, S. & Mendrychowski, J., 1 Feb 2012, (Unpublished).Research output: Contribution to conference › Poster › peer-review
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2011
Discovery and assessment of conserved Pax6 target genes and enhancers
Coutinho, P., Pavlou, S., Bhatia, S., Chalmers, K. J., Kleinjan, D. A. & van Heyningen, V., 2011, In: Genome Research. 21, 8, p. 1349-59 11 p.Research output: Contribution to journal › Article › peer-review
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DNaseI Hypersensitivity and Ultraconservation Reveal Novel, Interdependent Long-Range Enhancers at the Complex Pax6 Cis-Regulatory Region
McBride, D. J., Buckle, A., van Heyningen, V. & Kleinjan, D. A., 29 Dec 2011, In: PLoS ONE. 6, 12, 20 p., ARTN e28616.Research output: Contribution to journal › Article › peer-review
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2009
Cis-ruption mechanisms: disruption of cis-regulatory control as a cause of human genetic disease
Kleinjan, D-J. & Coutinho, P., 2009, In: Briefings in functional genomics & proteomics. 8, 4, p. 317-32 16 p.Research output: Contribution to journal › Article › peer-review
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Effects of Elevated Pax6 Expression and Genetic Background on Mouse Eye Development
Chanas, S. A., Collinson, J. M., Ramaesh, T., Dora, N., Kleinjan, D. A., Hill, B. & West, J. D., Sep 2009, In: Investigative Ophthalmology & Visual Science. 50, 9, p. 4045-4059 15 p.Research output: Contribution to journal › Article › peer-review
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GENOMIC LANDSCAPE OF THE DEVELOPMENTAL REGULATOR PAX6 IN DEVELOPMENT, EVOLUTION AND DISEASE
Kleinjan, D-J., 2009, In: Cellular Oncology. 31, 2, p. 96-97 2 p.Research output: Contribution to journal › Meeting abstract › peer-review
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Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence
Benko, S., Fantes, J. A., Amiel, J., Kleinjan, D-J., Thomas, S., Ramsay, J., Jamshidi, N., Essafi, A., Heaney, S., Gordon, C. T., McBride, D., Golzio, C., Fisher, M., Perry, P., Abadie, V., Ayuso, C., Holder-Espinasse, M., Kilpatrick, N., Lees, M. M., Picard, A. & 12 others, , Mar 2009, In: Nature Genetics. 41, 3, p. 359-364 6 p.Research output: Contribution to journal › Article › peer-review
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Marie Curie - Genome Architecture in Relation to Disease Conference 3 Higher Order Genome Architecture Foreword
Gilbert, N. & Kleinjan, D-J., 2009, In: Cellular Oncology. 31, 2, p. 65-65 1 p.Research output: Contribution to journal › Editorial › peer-review
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Mosaic analysis of stem cell function and wound healing in the mouse corneal epithelium
Mort, R. L., Ramaesh, T., Kleinjan, D. A., Morley, S. D. & West, J. D., 2009, In: BMC Developmental Biology. 9, p. 4Research output: Contribution to journal › Article › peer-review
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The level of the transcription factor Pax6 is essential for controlling the balance between neural stem cell self-renewal and neurogenesis
Sansom, S. N., Griffiths, D. S., Faedo, A., Kleinjan, D-J., Ruan, Y., Smith, J., van Heyningen, V., Rubenstein, J. L. & Livesey, F. J., Jun 2009, In: PLoS Genetics. 5, 6, 16 p., e1000511.Research output: Contribution to journal › Article › peer-review
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2008
Cited2 is required for the proper formation of the hyaloid vasculature and for lens morphogenesis
Chen, Y., Doughman, Y., Gu, S., Jarrell, A., Aota, S., Cvekl, A., Watanabe, M., Dunwoodie, S. L., Johnson, R. S., van Heyningen, V., Kleinjan, D. A., Beebe, D. C. & Yang, Y-C., 2008, In: Development. 135, 17, p. 2939-48 10 p.Research output: Contribution to journal › Article › peer-review
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Long-range gene control and genetic disease
Kleinjan, D. A. & Lettice, L. A., 2008, In: Advances in Genetics. 61, p. 339-88 50 p.Research output: Contribution to journal › Article › peer-review
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Long-Range Gene Control and Genetic Disease
Kleinjan, D. A. & Lettice, L. A., 2008, LONG-RANGE CONTROL OF GENE EXPRESSION. SAN DIEGO: ELSEVIER ACADEMIC PRESS INC, p. 339-388 50 p.Research output: Chapter in Book/Report/Conference proceeding › Other chapter contribution
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Subfunctionalization of duplicated zebrafish pax6 genes by cis-regulatory divergence
Kleinjan, D. A., Bancewicz, R. M., Gautier, P., Dahm, R., Schonthaler, H. B., Damante, G., Seawright, A., Hever, A. M., Yeyati, P. L., van Heyningen, V. & Coutinho, P., Feb 2008, In: PLoS Genetics. 4, 2, 14 p., e29.Research output: Contribution to journal › Article › peer-review
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2007
Controlled overexpression of Pax6 in vivo negatively autoregulates the Pax6 locus, causing cell-autonomous defects of late cortical progenitor proliferation with little effect on cortical arealization
Manuel, M., Georgala, P. A., Carr, C. B., Chanas, S., Kleinjan, D. A., Martynoga, B., Mason, J. O., Molinek, M., Pinson, J., Pratt, T., Quinn, J. C., Simpson, I., Tyas, D. A., van Heyningen, V., West, J. D. & Price, D. J., 2007, In: Development. 134, 3, p. 545-55 11 p.Research output: Contribution to journal › Article › peer-review
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2006
Functional conservation of Pax6 regulatory elements in humans and mice demonstrated with a novel transgenic reporter mouse
Tyas, D. A., Simpson, T. I., Carr, C. B., Kleinjan, D. A., van Heyningen, V., Mason, J. O. & Price, D., 2006, In: BMC Developmental Biology. 6, 11 p., 21.Research output: Contribution to journal › Article › peer-review
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Long-range downstream enhancers are essential for Pax6 expression
Kleinjan, D. A., Seawright, A., Mella, S., Carr, C. B., Tyas, D. A., Simpson, I., Mason, J. O., Price, D. J. & van Heyningen, V., 2006, In: Developmental Biology. 299, 2, p. 563-81 19 p.Research output: Contribution to journal › Article › peer-review
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2005
Long-range control of gene expression: emerging mechanisms and disruption in disease
Kleinjan, D. A. & van Heyningen, V., 2005, In: American Journal of Human Genetics. 76, 1, p. 8-32 25 p.Research output: Contribution to journal › Article › peer-review
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2004
Conserved elements in Pax6 intron 7 involved in (auto)regulation and alternative transcription
Kleinjan, D. A., Seawright, A., Childs, A. J. & van Heyningen, V., 2004, In: Developmental Biology. 265, 2, p. 462-77 16 p.Research output: Contribution to journal › Article › peer-review
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2002
Characterization of a novel gene adjacent to PAX6, revealing synteny conservation with functional significance
Kleinjan, D. A., Seawright, A., Elgar, G. & van Heyningen, V., 2002, In: Mammalian Genome. 13, 2, p. 102-7 6 p.Research output: Contribution to journal › Article › peer-review
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Generation of a 'Pax6 GFP reporter' transgenic mouse
Tyas, D. A., Kleinjan, D. A., Simpson, T. I., van Heyningen, V., Mason, J. O. & Price, D. J., Nov 2002, In: Molecular Biology of the Cell. 13, Supplement, p. 519A-519A 1 p.Research output: Contribution to journal › Meeting abstract › peer-review
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New 3' elements control Pax6 expression in the developing pretectum, neural retina and olfactory region
Griffin, C., Kleinjan, D. A., Doe, B. & van Heyningen, V., 2002, In: Mechanisms of Development. 112, 1-2, p. 89-100 12 p.Research output: Contribution to journal › Article › peer-review
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2001
Aniridia-associated translocations, DNase hypersensitivity, sequence comparison and transgenic analysis redefine the functional domain of PAX6
Kleinjan, D. A., Seawright, A., Schedl, A., Quinlan, R. A., Danes, S. & van Heyningen, V., 2001, In: Human Molecular Genetics. 10, 19, p. 2049-59 11 p.Research output: Contribution to journal › Article › peer-review
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1998
Complete sequencing of the Fugu WAGR region from WT1 to PAX6: dramatic compaction and conservation of synteny with human chromosome 11p13
Miles, C., Elgar, G., Coles, E., Kleinjan, D. J., van Heyningen, V. & Hastie, N., 27 Oct 1998, In: Proceedings of the National Academy of Sciences. 95, 22, p. 13068-72 5 p.Research output: Contribution to journal › Article › peer-review
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Position effect in human genetic disease
Kleinjan, D. J. & van Heyningen, V., 1998, In: Human Molecular Genetics. 7, 10, p. 1611-8 8 p.Research output: Contribution to journal › Article › peer-review