Víctor Sánchez-Gaya
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View article: Dual role of ZIC2 during neural induction: from pioneer transcription factor to enhancer activator
Dual role of ZIC2 during neural induction: from pioneer transcription factor to enhancer activator Open
ZIC2, a member of the Zinc Finger of the Cerebellum family of transcription factors (TFs), plays crucial roles during neural development. In humans, defects in ZIC2 cause holoprosencephaly, a congenital brain malformation characterized by …
View article: Distinguishing benign from pathogenic duplications involving <i>GPR101</i> and <i>VGLL1</i>-adjacent enhancers in the clinical setting with the bioinformatic tool POSTRE
Distinguishing benign from pathogenic duplications involving <i>GPR101</i> and <i>VGLL1</i>-adjacent enhancers in the clinical setting with the bioinformatic tool POSTRE Open
Background Structural variants (SVs) that disrupt topologically associating domains (TADs) can cause disease by rewiring enhancer-promoter interactions. Duplications involving GPR101 are known to cause X-linked acrogigantism (X-LAG) by ena…
View article: Cooperative insulation of regulatory domains by CTCF-dependent physical insulation and promoter competition
Cooperative insulation of regulatory domains by CTCF-dependent physical insulation and promoter competition Open
View article: Synergistic insulation of regulatory domains by developmental genes and clusters of CTCF sites
Synergistic insulation of regulatory domains by developmental genes and clusters of CTCF sites Open
The specificity of gene expression during development requires the insulation of regulatory domains to avoid inappropriate enhancer-gene interactions. In vertebrates, this insulator function is mostly attributed to clusters of CTCF sites l…
View article: POSTRE: a tool to predict the pathological effects of human structural variants
POSTRE: a tool to predict the pathological effects of human structural variants Open
Understanding the pathological impact of non-coding genetic variation is a major challenge in medical genetics. Accumulating evidences indicate that a significant fraction of genetic alterations, including structural variants (SVs), can ca…
View article: POSTRE: a tool to predict the pathological effects of human structural variants
POSTRE: a tool to predict the pathological effects of human structural variants Open
Understanding the pathological impact of non-coding genetic variation is a major challenge in medical genetics. Accumulating evidences indicate that a significant fraction of genetic alterations, including structural variants (SVs), can ca…
View article: Orphan CpG islands amplify poised enhancer regulatory activity and determine target gene responsiveness
Orphan CpG islands amplify poised enhancer regulatory activity and determine target gene responsiveness Open
View article: Orphan CpG islands boost the regulatory activity of poised enhancers and dictate the responsiveness of their target genes
Orphan CpG islands boost the regulatory activity of poised enhancers and dictate the responsiveness of their target genes Open
ARTICLE CpG islands (CGIs) represent a distinctive and widespread genetic feature of vertebrate genomes, being associated with ∼70% of all annotated gene promoters 1 . CGIs have been proposed to control transcription initiation by conferri…
View article: Rare or Overlooked? Structural Disruption of Regulatory Domains in Human Neurocristopathies
Rare or Overlooked? Structural Disruption of Regulatory Domains in Human Neurocristopathies Open
In the last few years, the role of non-coding regulatory elements and their involvement in human disease have received great attention. Among the non-coding regulatory sequences, enhancers are particularly important for the proper establis…
View article: The ubiquitin-conjugating enzyme UBE2K determines neurogenic potential through histone H3 in human embryonic stem cells
The ubiquitin-conjugating enzyme UBE2K determines neurogenic potential through histone H3 in human embryonic stem cells Open
View article: Elucidating the Role of Chromatin State and Transcription Factors on the Regulation of the Yeast Metabolic Cycle: A Multi-Omic Integrative Approach
Elucidating the Role of Chromatin State and Transcription Factors on the Regulation of the Yeast Metabolic Cycle: A Multi-Omic Integrative Approach Open
The Yeast Metabolic Cycle (YMC) is a model system in which levels of around 60% of the yeast transcripts cycle over time. The spatial and temporal resolution provided by the YMC has revealed that changes in the yeast metabolic landscape an…