Lista de obras -

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

artículo científico publicado en 2014

Characterization of a novel gene adjacent to PAX6, revealing synteny conservation with functional significance

artículo científico publicado en 2002

Cited2 is required for the proper formation of the hyaloid vasculature and for lens morphogenesis

scientific journal article

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

artículo científico publicado en 2004

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

artículo científico publicado en 2007

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

artículo científico publicado en 2011

Discovery and assessment of conserved Pax6 target genes and enhancers

artículo científico publicado en 2011

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico

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

artículo científico publicado en 2017

Effects of elevated Pax6 expression and genetic background on mouse eye development

scientific article published on 22 April 2009

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

artículo científico publicado en 2015

Functional characteristics of novel pancreatic Pax6 regulatory elements

scholarly article by Adam Buckle published in October 2018

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

artículo científico publicado en 2006

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

artículo científico publicado en 2014

Identification of genomic regions regulating Pax6 expression in embryonic forebrain using YAC reporter transgenic mouse lines

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2004

Long-range downstream enhancers are essential for Pax6 expression

artículo científico publicado en 2006

Long-range gene control and genetic disease

artículo científico publicado en 2008

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

artículo científico publicado en 2009

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

artículo científico publicado en 2002

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

Rounding up active cis-elements in the triple C corral: combining conservation, cleavage and conformation capture for the analysis of regulatory gene domains

artículo científico publicado en 2004

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

artículo científico publicado en 2013

Subfunctionalization of duplicated zebrafish pax6 genes by cis-regulatory divergence

artículo científico publicado en 2008

The developmental regulator Pax6 is essential for maintenance of islet cell function in the adult mouse pancreas

artículo científico publicado en 2013

Lista de obras de

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

Characterization of a novel gene adjacent to PAX6, revealing synteny conservation with functional significance

Cited2 is required for the proper formation of the hyaloid vasculature and for lens morphogenesis

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

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

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

Discovery and assessment of conserved Pax6 target genes and enhancers

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

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

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

Effects of elevated Pax6 expression and genetic background on mouse eye development

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

Functional characteristics of novel pancreatic Pax6 regulatory elements

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

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

Identification of genomic regions regulating Pax6 expression in embryonic forebrain using YAC reporter transgenic mouse lines

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

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

Long-range downstream enhancers are essential for Pax6 expression

Long-range gene control and genetic disease

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

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

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

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

Rounding up active cis-elements in the triple C corral: combining conservation, cleavage and conformation capture for the analysis of regulatory gene domains

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

Subfunctionalization of duplicated zebrafish pax6 genes by cis-regulatory divergence

The developmental regulator Pax6 is essential for maintenance of islet cell function in the adult mouse pancreas