Back to search

Article

Dysregulation in Spatiotemporal Expression of <i>HMX1</i> Coordinated by Multifaceted Enhancers Drives an Auricular Disorder

2024-04-02

Abstract excerpt

Enhancers, through the combinatorial action of transcription factors (TFs), dictate both the spatial specificity and the levels of gene expression, and their aberrations can result in diseases. The association between HMX1 and its downstream enhancer with ear deformities has been previously documented. However, the pathogenic variations and molecular mechanisms underlying the bilateral constricted ear (BCE) malfo...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work
f99b9c46-d76b-5920-9e77-10212e3a7d87
DOI
10.1101/2024.04.01.587639
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
Dysregulation in Spatiotemporal Expression of <i>HMX1</i> Coordinated by Multifaceted Enhancers Drives an Auricular DisorderDOI 10.1101/2024.04.01.587639
Rare or Overlooked? Structural Disruption of Regulatory Domains in Human NeurocristopathiesSemantic proximity
Mechanistic dissection of the <i>CHD4</i> enhancers reveals cooperative functions among the homotypic ZNF410 clustered motifsSemantic proximity
Non-coding structural variants identify a commonly affected regulatory region steering<i>FOXG1</i>transcription in early neurodevelopmentSemantic proximity
Modeling uniquely human gene regulatory function in humanized miceSemantic proximity
The TALE never ends: A comprehensive overview of the role of PBX1, a TALE transcription factor, in human developmental defects.Semantic proximity
Liebenberg syndrome severity arises from variations in <i>Pitx1</i> locus topology and ectopically transcribing cellsSemantic proximity
A distant global control region is essential for normal expression of anterior <i>HOXA</i> genes during mouse and human craniofacial developmentSemantic proximity
Cell Type- and Tissue-specific Enhancers in Craniofacial DevelopmentSemantic proximity
Meis1 coordinates a network of genes implicated in eye development and microphthalmiaSemantic proximity
Functional compensation among HMGN variants modulates the DNase I hypersensitive sites at enhancers.Semantic proximity
Differential modularity of the mammalian <i>Engrailed 1</i> enhancer network directs eccrine sweat gland developmentSemantic proximity
Identification of endothelial and mesenchymal FOXF1 enhancers involved in alveolar capillary dysplasiaSemantic proximity
Select a neighboring publication to make it the new centre.