Cleft Lip and Palate Research

The paper identifies protein-altering de novo variants in CP probands, finding higher enrichment in syndromic cases and distinct biological enrichments in single-cell RNA sequencing datasets.

This study constructs a single-cell atlas of developing mouse palates, identifying periderm subclusters and trajectories, and reveals molecular mechanisms governing periderm cell fate during palatogenesis.

This study shows that MLL4 is critical for midpalatal suture development and palate growth, with loss of MLL4 causing hypoplasia, widened suture, and disrupted cartilage development.

This study identifies three new genetic loci associated with orofacial cleft risk and confirms known risk genes, providing insights into the molecular mechanisms of facial development.

The paper investigates the relationship between palatal segment growth and midfacial anterior-posterior elongation in mice, showing a one-to-one correspondence between palatal segments and upper jaw bones.

This study identifies compound heterozygosity in the TTN gene as a recessive risk factor for nonsyndromic cleft lip and palate in an Indian family.

The paper identifies ethanol-induced palate defects in zebrafish Bmp pathway mutants, showing ethanol disrupts Bmp-dependent development independent of gata3.

The paper shows depolarization induces calcium-dependent BMP4 release from mouse embryonic palate mesenchyme cells, linking ion channels to BMP signaling in craniofacial development.

The paper identifies sex-specific genetic risks for cleft palate through genome-wide gene-by-sex interaction analysis in a trio-based cohort.

This study identifies a variant in the ACTB gene associated with orofacial clefts in BWCFF and shows it impairs actin dynamics and epithelial cell function.

The paper investigates tongue development anomalies in ciliopathies and shows that coordinated cellular processes are essential for normal development.

The paper functionally tests ESRP1/2 variants and CTNND1 isoforms in orofacial cleft models, finding some variants are benign and showing CTNND1's role in palatogenesis.

The paper investigates DNA methylation differences in IRF6 and TP63 regulatory regions in Van der Woude Syndrome patients and finds hypermethylation in IRF6 promoters correlates with more severe phenotypes.

The paper identifies a regulatory variant in IRF6 associated with increased cleft palate risk in Finland and shows it disrupts IRF6 enhancer function.

This study generates a conditional Irf6 mouse model to investigate its role in periderm and neural crest development, revealing distinct phenotypes in these lineages.

The paper identifies MUC7 as a risk allele for cleft lip and/or palate through differential expression analysis and variant analysis of RNA-seq data from patients versus controls.

The paper identifies a SNP that regulates facial shape and disease risk by affecting PKDCC expression during chondrogenesis, showing its impact on both normal variation and clefting.

The paper identifies Filamin A's role in palatal fusion by linking mechanotransduction with β-Catenin/Smad2 signaling, showing its impact on cleft palate risk through parental physical activity.

The paper identifies a critical noncoding superenhancer region essential for regulating anterior HOXA genes in craniofacial development, showing its deletion causes severe developmental defects in mice and a human patient.

This study performs trio-based GWAS to identify genetic risk factors for cleft palate subtypes, finding a genome-wide significant locus and subtype-specific associations.

This study shows that disrupting fos in zebrafish causes craniofacial anomalies, suggesting a role in nonsyndromic cleft lip and palate.

The paper identifies novel disease candidate genes in craniofacial development using transcriptomics data and coexpression networks.

The paper uses whole-exome sequencing to identify rare variants in multiplex families with orofacial clefts, finding variants in seven families but no clear evidence that subclinical phenotypes clarify inheritance patterns.

The paper estimates the diagnostic yield of sequencing 418 genes in OFC cases and controls, finding a higher prevalence of likely pathogenic variants in cases.

This study investigates the role of Dkk2 in palatogenesis using Pax9-/- mouse models and spatial multiomics data, revealing its spatial relationship with osteogenic populations.

The paper examines CHDFIDD mouse models to show CDK13's role in facial clefts and craniofacial neurogenesis through gene expression and structural changes.

This study shows that inactivation of Tip60/Ep400 chromatin remodeling complex subunits Kat5 and Ep400 in mouse cranial neural crest cells disrupts metabolism, proliferation, and facial development, linking KAT5 mutations to orofacial clefting.

The paper uses integrated bulk, single-cell, and spatial RNA-seq to uncover the timeline of osteogenic transcriptional programming in embryonic palate development, identifying novel genes and spatial expression patterns involved in palatal fusion.

This study identifies rare variants in SEC24D associated with orofacial cleft subtypes and shows they affect transcription factor binding sites.

This study identifies canonical Wnt signaling's role in soft palate development by regulating ciliary homeostasis and mesenchymal cell proliferation.