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Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHD.
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- Human Genomics, 2015, v. 9, n. 1, p. 1, doi. 10.1186/s40246-015-0047-x
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- Article
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.
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- Nature Genetics, 2009, v. 41, n. 3, p. 359, doi. 10.1038/ng.329
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- Article
Turned off by RNA.
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- Nature Genetics, 2003, v. 34, n. 2, p. 125, doi. 10.1038/ng0603-125
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- Article
Functional conservation of Pax6 regulatory elements in humans and mice demonstrated with a novel transgenic reporter mouse.
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- BMC Developmental Biology, 2006, v. 6, p. 1, doi. 10.1186/1471-213X-6-21
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- Article
Identification of Genomic Regions Regulating Pax6 Expression in Embryonic Forebrain Using YAC Reporter Transgenic Mouse Lines.
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- PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0080208
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- Article
The Developmental Regulator Pax6 Is Essential for Maintenance of Islet Cell Function in the Adult Mouse Pancreas.
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- PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0054173
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- Article
DNaseI Hypersensitivity and Ultraconservation Reveal Novel, Interdependent Long-Range Enhancers at the Complex Pax6 Cis-Regulatory Region.
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- PLoS ONE, 2011, v. 6, n. 12, p. 1, doi. 10.1371/journal.pone.0028616
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- Article
Disruption of long-range gene regulation in human genetic disease: a kaleidoscope of general principles, diverse mechanisms and unique phenotypic consequences.
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- Human Genetics, 2014, v. 133, n. 7, p. 815, doi. 10.1007/s00439-014-1424-6
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- Article
Quantitative spatial and temporal assessment of regulatory element activity in zebrafish.
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- eLife, 2021, p. 1, doi. 10.7554/eLife.65601
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Lampreys, the jawless vertebrates, contain three Pax6 genes with distinct expression in eye, brain and pancreas.
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- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-56085-8
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- Article
Cis-ruption mechanisms: disruption of cis-regulatory control as a cause of human genetic disease.
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- Briefings in Functional Genomics & Proteomics, 2009, v. 8, n. 4, p. 317, doi. 10.1093/bfgp/elp022
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- Article
Rounding up active cis-elements in the triple C corral: Combining conservation, cleavage and conformation capture for the analysis of regulatory gene domains.
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- Briefings in Functional Genomics & Proteomics, 2004, v. 3, n. 3, p. 267, doi. 10.1093/bfgp/3.3.267
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- Article
Functional characteristics of novel pancreatic Pax6 regulatory elements.
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- Human Molecular Genetics, 2018, v. 27, n. 19, p. 3434, doi. 10.1093/hmg/ddy255
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- Article
Regulation of SPRY3 by X chromosome and PAR2-linked promoters n an autism susceptibility region.
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- Human Molecular Genetics, 2015, v. 24, n. 25, p. 7450, doi. 10.1093/hmg/ddv448
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- Article
Regulation of SPRY3 by X chromosome and PAR2-linked promoters in an autism susceptibility region.
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- Human Molecular Genetics, 2015, v. 24, n. 18, p. 5126, doi. 10.1093/hmg/ddv231
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- Article
Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence.
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- Human Molecular Genetics, 2014, v. 23, n. 10, p. 2569, doi. 10.1093/hmg/ddt647
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- Article
Characterization of a novel gene adjacent to PAX6, revealing synteny conservation with functional significance.
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- Mammalian Genome, 2002, v. 13, n. 2, p. 102, doi. 10.1007/s00335-001-3058-y
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- Article
Drug-tunable multidimensional synthetic gene control using inducible degron-tagged dCas9 effectors.
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- Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-01222-y
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- Article
Genomic profiling of type-1 adult diabetic and aged normoglycemic mouse liver.
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- BMC Endocrine Disorders, 2014, v. 14, n. 1, p. 1, doi. 10.1186/1472-6823-14-19
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- Article
Functional Assessment of Disease-Associated Regulatory Variants In Vivo Using a Versatile Dual Colour Transgenesis Strategy in Zebrafish.
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- PLoS Genetics, 2015, v. 11, n. 6, p. 1, doi. 10.1371/journal.pgen.1005193
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- Article
Sequencing of Pax6 Loci from the Elephant Shark Reveals a Family of Pax6 Genes in Vertebrate Genomes, Forged by Ancient Duplications and Divergences.
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- PLoS Genetics, 2013, v. 9, n. 1, p. 1, doi. 10.1371/journal.pgen.1003177
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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.
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- PLoS Genetics, 2009, v. 5, n. 6, p. 1, doi. 10.1371/journal.pgen.1000511
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Subfunctionalization of Duplicated Zebrafish pax6 Genes by cis-Regulatory Divergence.
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- PLoS Genetics, 2008, v. 4, n. 2, p. 1, doi. 10.1371/journal.pgen.0040029
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- Article
Identification of Novel Craniofacial Regulatory Domains Located far Upstream of SOX9 and Disrupted in Pierre Robin Sequence.
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- Human Mutation, 2014, v. 35, n. 8, p. 1011, doi. 10.1002/humu.22606
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Aniridia-associated translocations, DNase hypersensitivity, sequence comparison and transgenic analysis redefine the functional domain of PAX6.
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- Human Molecular Genetics, 2001, v. 10, n. 19, p. 2049, doi. 10.1093/hmg/10.19.2049
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A conditional Pax6 depletion study with no morphological effect on the adult mouse corneal epithelium.
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- BMC Research Notes, 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13104-018-3812-9
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- Article
Position effect in human genetic disease.
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- Human Molecular Genetics, 1998, v. 7, n. 10, p. 1611, doi. 10.1093/hmg/7.10.1611
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- Article
Position effect in human genetic disease.
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- Human Molecular Genetics, 1998, v. 7, n. 10, p. 1611, doi. 10.1093/hmg/7.10.1611
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- Article
Live‐cell super‐resolution imaging of actin using LifeAct‐14 with a PAINT‐based approach.
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- Protein Science: A Publication of the Protein Society, 2023, v. 32, n. 2, p. 1, doi. 10.1002/pro.4558
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- Article