Back to search

Article

Multi-omics on truncating <i>ASXL1</i> mutations in Bohring Opitz syndrome identify dysregulation of canonical and non-canonical Wnt signaling

2022-12-15

Abstract excerpt

<h4>ABSTRACT</h4> ASXL1 ( Additional sex combs-like 1 ) plays key roles in epigenetic regulation of early developmental gene expression. De novo truncating mutations in ASXL1 cause Bohring-Opitz syndrome (BOS, OMIM #605039), a rare neurodevelopmental condition characterized by severe intellectual disabilities, characteristic facial features, hypertrichosis, increased risk of Wilms tumor, and variable congenita...

Topics

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

Identifiers and source

Literature Corpus work
aa7489da-d12e-545f-9224-4db53a123404
DOI
10.1101/2022.12.15.520167
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.
Multi-omics on truncating <i>ASXL1</i> mutations in Bohring Opitz syndrome identify dysregulation of canonical and non-canonical Wnt signalingDOI 10.1101/2022.12.15.520167
Multiomics of Bohring-Opitz syndrome truncating ASXL1 mutations identify canonical and noncanonical Wnt signaling dysregulation.Semantic proximity
<i>ASXL1</i> mutations that cause Bohring Opitz Syndrome (BOS) or acute myeloid leukemia share epigenomic and transcriptomic signaturesSemantic proximity
Truncating <i>ASXL1</i> variants rewire cellular metabolism via mitochondrial pyruvate carrier repressionSemantic proximity
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.Semantic proximity
Deletion of Asxl1 results in myelodysplasia and severe developmental defects in vivo.Semantic proximity
A de novo truncating mutation in ASXL1 associated with segmental overgrowth.Semantic proximity
Role of ASXL1 in hematopoiesis and myeloid diseases.Semantic proximity
Pathogenic <i>ASXL1</i> somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz SyndromeSemantic proximity
Functional proteomics of the epigenetic regulators ASXL1, ASXL2 and ASXL3: a convergence of proteomics and epigenetics for translational medicine.Semantic proximity
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.Semantic proximity
Oncogenic gene expression and epigenetic remodeling of cis-regulatory elements in ASXL1-mutant chronic myelomonocytic leukemia.Semantic proximity
Pathological ASXL1 Mutations and Protein Variants Impair Neural Crest DevelopmentSemantic proximity
Select a neighboring publication to make it the new centre.