[HTML][HTML] The genetics of transcription factor DNA binding variation
Most complex trait-associated variants are located in non-coding regulatory regions of the
genome, where they have been shown to disrupt transcription factor (TF)-DNA binding …
genome, where they have been shown to disrupt transcription factor (TF)-DNA binding …
[HTML][HTML] Cell fate decisions, transcription factors and signaling during early retinal development
R Diacou, P Nandigrami, A Fiser, W Liu… - Progress in retinal and …, 2022 - Elsevier
The development of the vertebrate eyes is a complex process starting from anterior-posterior
and dorso-ventral patterning of the anterior neural tube, resulting in the formation of the eye …
and dorso-ventral patterning of the anterior neural tube, resulting in the formation of the eye …
[HTML][HTML] Decreased enhancer-promoter proximity accompanying enhancer activation
NS Benabdallah, I Williamson, RS Illingworth, L Kane… - Molecular cell, 2019 - cell.com
Enhancers can regulate the promoters of their target genes over very large genomic
distances. It is widely assumed that mechanisms of enhancer action involve the …
distances. It is widely assumed that mechanisms of enhancer action involve the …
De novo mutations in regulatory elements in neurodevelopmental disorders
We previously estimated that 42% of patients with severe developmental disorders carry
pathogenic de novo mutations in coding sequences. The role of de novo mutations in …
pathogenic de novo mutations in coding sequences. The role of de novo mutations in …
[HTML][HTML] Congenital aniridia beyond black eyes: from phenotype and novel genetic mechanisms to innovative therapeutic approaches
Congenital PAX6-aniridia, initially characterized by the absence of the iris, has progressively
been shown to be associated with other developmental ocular abnormalities and systemic …
been shown to be associated with other developmental ocular abnormalities and systemic …
[HTML][HTML] Systematic analysis of dark and camouflaged genes reveals disease-relevant genes hiding in plain sight
MTW Ebbert, TD Jensen, K Jansen-West, JP Sens… - Genome biology, 2019 - Springer
Background The human genome contains “dark” gene regions that cannot be adequately
assembled or aligned using standard short-read sequencing technologies, preventing …
assembled or aligned using standard short-read sequencing technologies, preventing …
Eye development and retinogenesis
W Heavner, L Pevny - Cold Spring Harbor perspectives …, 2012 - cshperspectives.cshlp.org
Three embryonic tissue sources—the neural ectoderm, the surface ectoderm, and the
periocular mesenchyme—contribute to the formation of the mammalian eye. For this reason …
periocular mesenchyme—contribute to the formation of the mammalian eye. For this reason …
The paraventricular nucleus of the hypothalamus: development, function, and human diseases
C Qin, J Li, K Tang - Endocrinology, 2018 - academic.oup.com
The paraventricular nucleus of the hypothalamus (PVH), located in the ventral diencephalon
adjacent to the third ventricle, is a highly conserved brain region present in species from …
adjacent to the third ventricle, is a highly conserved brain region present in species from …
Massively parallel decoding of mammalian regulatory sequences supports a flexible organizational model
Despite continual progress in the cataloging of vertebrate regulatory elements, little is known
about their organization and regulatory architecture. Here we describe a massively parallel …
about their organization and regulatory architecture. Here we describe a massively parallel …
[HTML][HTML] Cilia, ciliopathies and hedgehog-related forebrain developmental disorders
A Andreu-Cervera, M Catala… - Neurobiology of …, 2021 - Elsevier
Abstract Development of the forebrain critically depends on the Sonic Hedgehog (Shh)
signaling pathway, as illustrated in humans by the frequent perturbation of this pathway in …
signaling pathway, as illustrated in humans by the frequent perturbation of this pathway in …