Pesquisa | BVS Violência e Saúde

1.

Functional characteristics of novel pancreatic Pax6 regulatory elements.

Buckle, Adam; Nozawa, Ryu-Suke; Kleinjan, Dirk A; Gilbert, Nick.

Hum Mol Genet ; 27(19): 3434-3448, 2018 10 01.

Artigo em Inglês | MEDLINE | ID: mdl-30007277

2.

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

Bhatia, Shipra; Gordon, Christopher T; Foster, Robert G; Melin, Lucie; Abadie, Véronique; Baujat, Geneviève; Vazquez, Marie-Paule; Amiel, Jeanne; Lyonnet, Stanislas; van Heyningen, Veronica; Kleinjan, Dirk A.

PLoS Genet ; 11(6): e1005193, 2015 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-26030420

3.

Regulation of SPRY3 by X chromosome and PAR2-linked promoters in an autism susceptibility region.

Ning, Zhenfei; McLellan, Andrew S; Ball, Melanie; Wynne, Freda; O'Neill, Cora; Mills, Walter; Quinn, John P; Kleinjan, Dirk A; Anney, Richard J; Carmody, Ruaidhre J; O'Keeffe, Gerard; Moore, Tom.

Hum Mol Genet ; 24(18): 5126-41, 2015 Sep 15.

Artigo em Inglês | MEDLINE | ID: mdl-26089202

4.

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

Rainger, Jacqueline K; Bhatia, Shipra; Bengani, Hemant; Gautier, Philippe; Rainger, Joe; Pearson, Matt; Ansari, Morad; Crow, Jayne; Mehendale, Felicity; Palinkasova, Bozena; Dixon, Michael J; Thompson, Pamela J; Matarin, Mar; Sisodiya, Sanjay M; Kleinjan, Dirk A; Fitzpatrick, David R.

Hum Mol Genet ; 23(10): 2569-79, 2014 May 15.

Artigo em Inglês | MEDLINE | ID: mdl-24363063

5.

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

Bhatia, Shipra; Bengani, Hemant; Fish, Margaret; Brown, Alison; Divizia, Maria Teresa; de Marco, Riccardo; Damante, Guiseppe; Grainger, Robert; van Heyningen, Veronica; Kleinjan, Dirk A.

Am J Hum Genet ; 93(6): 1126-34, 2013 Dec 05.

Artigo em Inglês | MEDLINE | ID: mdl-24290376

6.

Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHD.

Mayes, Mary B; Morgan, Taniesha; Winston, Jincy; Buxton, Daniel S; Kamat, Mihir Anant; Smith, Debbie; Williams, Maggie; Martin, Rebecca L; Kleinjan, Dirk A; Cooper, David N; Upadhyaya, Meena; Chuzhanova, Nadia.

Hum Genomics ; 9: 25, 2015 Oct 07.

Artigo em Inglês | MEDLINE | ID: mdl-26446085

7.

Sequencing of Pax6 loci from the elephant shark reveals a family of Pax6 genes in vertebrate genomes, forged by ancient duplications and divergences.

Ravi, Vydianathan; Bhatia, Shipra; Gautier, Philippe; Loosli, Felix; Tay, Boon-Hui; Tay, Alice; Murdoch, Emma; Coutinho, Pedro; van Heyningen, Veronica; Brenner, Sydney; Venkatesh, Byrappa; Kleinjan, Dirk A.

PLoS Genet ; 9(1): e1003177, 2013.

Artigo em Inglês | MEDLINE | ID: mdl-23359656

8.

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

Bhatia, Shipra; Monahan, Jack; Ravi, Vydianathan; Gautier, Philippe; Murdoch, Emma; Brenner, Sydney; van Heyningen, Veronica; Venkatesh, Byrappa; Kleinjan, Dirk A.

Dev Biol ; 387(2): 214-28, 2014 Mar 15.

Artigo em Inglês | MEDLINE | ID: mdl-24440152

9.

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

Gordon, Christopher T; Attanasio, Catia; Bhatia, Shipra; Benko, Sabina; Ansari, Morad; Tan, Tiong Y; Munnich, Arnold; Pennacchio, Len A; Abadie, Véronique; Temple, I Karen; Goldenberg, Alice; van Heyningen, Veronica; Amiel, Jeanne; FitzPatrick, David; Kleinjan, Dirk A; Visel, Axel; Lyonnet, Stanislas.

Hum Mutat ; 35(8): 1011-20, 2014 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-24934569

10.

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

Bhatia, Shipra; Kleinjan, Dirk A.

Hum Genet ; 133(7): 815-45, 2014 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-24496500

11.

Discovery and assessment of conserved Pax6 target genes and enhancers.

Coutinho, Pedro; Pavlou, Sofia; Bhatia, Shipra; Chalmers, Kevin J; Kleinjan, Dirk A; van Heyningen, Veronica.

Genome Res ; 21(8): 1349-59, 2011 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-21617155

12.

Genomic profiling of type-1 adult diabetic and aged normoglycemic mouse liver.

Ghiraldini, Flávia G; Silveira, André B; Kleinjan, Dirk A; Gilbert, Nick; Mello, Maria Luiza S.

BMC Endocr Disord ; 14: 19, 2014 Mar 03.

Artigo em Inglês | MEDLINE | ID: mdl-24581510

13.

Regulation of SPRY3 by X chromosome and PAR2-linked promoters in an autism susceptibility region.

Ning, Zhenfei; McLellan, Andrew S; Ball, Melanie; Wynne, Freda; O'Neill, Cora; Mills, Walter; Quinn, John P; Kleinjan, Dirk A; Anney, Richard J; Carmody, Ruaidhre J; O'Keeffe, Gerard; Moore, Tom.

Hum Mol Genet ; 24(25): 7450, 2015 Dec 20.

Artigo em Inglês | MEDLINE | ID: mdl-26534778

14.

Subfunctionalization of duplicated zebrafish pax6 genes by cis-regulatory divergence.

Kleinjan, Dirk A; Bancewicz, Ruth M; Gautier, Philippe; Dahm, Ralf; Schonthaler, Helia B; Damante, Giuseppe; Seawright, Anne; Hever, Ann M; Yeyati, Patricia L; van Heyningen, Veronica; Coutinho, Pedro.

PLoS Genet ; 4(2): e29, 2008 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-18282108

15.

Mosaic analysis of stem cell function and wound healing in the mouse corneal epithelium.

Mort, Richard L; Ramaesh, Thaya; Kleinjan, Dirk A; Morley, Steven D; West, John D.

BMC Dev Biol ; 9: 4, 2009 Jan 07.

Artigo em Inglês | MEDLINE | ID: mdl-19128502

16.

Lampreys, the jawless vertebrates, contain three Pax6 genes with distinct expression in eye, brain and pancreas.

Ravi, Vydianathan; Bhatia, Shipra; Shingate, Prashant; Tay, Boon-Hui; Venkatesh, Byrappa; Kleinjan, Dirk A.

Sci Rep ; 9(1): 19559, 2019 12 20.

Artigo em Inglês | MEDLINE | ID: mdl-31863055

17.

Turned off by RNA.

Kleinjan, Dirk A; van Heyningen, Veronica.

Nat Genet ; 34(2): 125-6, 2003 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-12776110

18.

Drug-tunable multidimensional synthetic gene control using inducible degron-tagged dCas9 effectors.

Kleinjan, Dirk A; Wardrope, Caroline; Nga Sou, Si; Rosser, Susan J.

Nat Commun ; 8(1): 1191, 2017 10 30.

Artigo em Inglês | MEDLINE | ID: mdl-29084946

19.

Functional conservation of Pax6 regulatory elements in humans and mice demonstrated with a novel transgenic reporter mouse.

Tyas, David A; Simpson, T Ian; Carr, Catherine B; Kleinjan, Dirk A; van Heyningen, Veronica; Mason, John O; Price, David J.

BMC Dev Biol ; 6: 21, 2006 May 04.

Artigo em Inglês | MEDLINE | ID: mdl-16674807

20.

New 3' elements control Pax6 expression in the developing pretectum, neural retina and olfactory region.

Griffin, Caroline; Kleinjan, Dirk A; Doe, Brendan; van Heyningen, Veronica.

Mech Dev ; 112(1-2): 89-100, 2002 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-11850181

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Functional characteristics of novel pancreatic Pax6 regulatory elements.

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

Regulation of SPRY3 by X chromosome and PAR2-linked promoters in an autism susceptibility region.

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

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

Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHD.

Sequencing of Pax6 loci from the elephant shark reveals a family of Pax6 genes in vertebrate genomes, forged by ancient duplications and divergences.

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

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

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

Discovery and assessment of conserved Pax6 target genes and enhancers.

Genomic profiling of type-1 adult diabetic and aged normoglycemic mouse liver.

Regulation of SPRY3 by X chromosome and PAR2-linked promoters in an autism susceptibility region.

Subfunctionalization of duplicated zebrafish pax6 genes by cis-regulatory divergence.

Mosaic analysis of stem cell function and wound healing in the mouse corneal epithelium.

Lampreys, the jawless vertebrates, contain three Pax6 genes with distinct expression in eye, brain and pancreas.

Turned off by RNA.

Drug-tunable multidimensional synthetic gene control using inducible degron-tagged dCas9 effectors.

Functional conservation of Pax6 regulatory elements in humans and mice demonstrated with a novel transgenic reporter mouse.

New 3' elements control Pax6 expression in the developing pretectum, neural retina and olfactory region.