Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Functional and Genetic Analyses Unveil the Implication of CDC27 in Hemifacial Microsomia.

International journal of molecular sciences - 26 Apr 2024

Song Wenjie, Xia Xin, Fan Yue, Zhang Bo, Chen Xiaowei

Abstract excerpt

Hemifacial microsomia (HFM) is a rare congenital genetic syndrome primarily affecting the first and second pharyngeal arches, leading to defects in the mandible, external ear, and middle ear. The pathogenic genes remain largely unidentified. Whole-exome sequencing (WES) was conducted on 12 HFM probands and their unaffected biological parents. Predictive structural analysis of the target gene was conducted using...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Apoptosis
Share to Cell Proliferation
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Knockout Techniques

Share to Goldenhar Syndrome

Share to Neural Crest

Share to Phenotype

Share to Zebrafish

Source

Open in PubMed Open full text

Identifiers

PMID: 38731925
DOI: 10.3390/ijms25094707
PMCID: PMC11083823

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Functional and Genetic Analyses Unveil the Implication of CDC27 in Hemifacial Microsomia.PMID 38731925Read ↗

Functional Genomics via Zebrafish CRISPR Reveals Pathogenic Landscape of 16 Candidate Genes in Hemifacial MicrosomiaSemantic proximity Read ↗

Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.Semantic proximity Read ↗

The cellular and molecular etiology of the craniofacial defects in the avian ciliopathic mutant talpid2.Semantic proximity Read ↗

Etiology and Pathogenesis of Hemifacial MicrosomiaSemantic proximity Read ↗

FBLN2 is associated with Goldenhar syndrome and is essential for cranial neural crest cell developmentSemantic proximity Read ↗

EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway.Semantic proximity Read ↗

EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model.Semantic proximity Read ↗

Biallelic Variants in<i>CCN2</i>Underlie an Autosomal Recessive Kyphomelic DysplasiaSemantic proximity Read ↗

Haploinsufficiency of SF3B2 causes craniofacial microsomia.Semantic proximity Read ↗

Multi-omic analyses identify molecular targets of Chd7 that contribute to CHARGE syndrome model phenotypes.Semantic proximity Read ↗

Multi-omic analyses identify molecular targets of Chd7 that mediate CHARGE syndrome model phenotypesSemantic proximity Read ↗

CRISPR/Cas9-mediated generation of hESC lines with homozygote and heterozygote p.R331W mutation in CTBP1 to model HADDTS syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.