Article

Abnormal craniofacial and spinal bone development with <i>col2a1</i> a depletion in a zebrafish model of CHARGE syndrome

2020-07-11

Abstract excerpt

CHARGE syndrome patients commonly display craniofacial abnormalities. Furthermore, most patients show features of idiopathic scoliosis, reduced bone mineral density and in a few cases osteopenia. While several clinical cases and studies have documented the skeletal deformities in CHARGE syndrome bearing CHD7 mutations, the underlying mechanisms of the disorder remain elusive. Here, we detect and quantitatively an...

Topics

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

Identifiers and source

Literature Corpus work: 344069e6-0d12-59a1-9bd0-6de438abc71c
DOI: 10.1101/2020.07.10.197533

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Abnormal craniofacial and spinal bone development with <i>col2a1</i> a depletion in a zebrafish model of CHARGE syndromeDOI 10.1101/2020.07.10.197533Read

CHD7 regulates craniofacial cartilage development via controlling HTR2B expressionSemantic proximity Read

Zebrafish Models for Skeletal and Extraskeletal Osteogenesis Imperfecta Features: Unveiling Pathophysiology and Paving the Way for Drug DiscoverySemantic proximity Read

The chromatin remodeling protein CHD7, mutated in CHARGE syndrome, is necessary for proper craniofacial and tracheal developmentSemantic proximity Read

Role of Chd7 in Zebrafish: A Model for CHARGE SyndromeSemantic proximity Read

Knockdown of fbxl10/kdm2bb rescues chd7 morphant phenotype in a zebrafish model of CHARGE syndrome.Semantic proximity Read

Crispant analysis in zebrafish as a tool for rapid functional screening of disease-causing genes for bone fragilitySemantic proximity Read

Compression Fractures and Partial Phenotype Rescue With a Low Phosphorus Diet in the Chihuahua Zebrafish Osteogenesis Imperfecta Model.Semantic proximity Read

A bone to pick with zebrafishSemantic proximity Read

Craniofacial and cardiac defects in chd7 zebrafish mutants mimic CHARGE syndromeSemantic proximity Read

A CRISPR/Cas9-generated mutation in the zebrafish orthologue of PPP2R3B causes idiopathic scoliosis.Semantic proximity Read

Loss of <i>cped1</i> does not affect bone and lean tissue in zebrafishSemantic proximity Read

Regulated extracellular matrix trafficking shapes cell growth during cartilage morphogenesisSemantic proximity Read