Cleft Lip and Palate Research

Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 816 trios

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.

Single-cell atlas of developing mouse palates reveals cellular and molecular transitions in periderm cell fate

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.

MLL4 regulates postnatal palate growth and midpalatal suture development

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.

Variants in CALD1, ESRP1, and RBFOX1 are associated with orofacial cleft risk

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.

Palatal segment contributions to midfacial anterior-posterior growth

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.

A compound heterozygosity of two haplotypes in the TTN gene contributes to risk for Cleft Lip and Palate in a recessive manner

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

Bone Morphogenetic Protein signaling pathway - ethanol interactions disrupt palate formation independent of gata3

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

Depolarization induces calcium-dependent BMP4 release from mouse embryonic palate mesenchyme

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

Genome-wide study of gene-by-sex interactions identifies risks for cleft palate

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

Compromised actin dynamics underlie the orofacial cleft in Baraitser-Winter Cerebrofrontofacial Syndrome with a variant in ACTB

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.

Coordinated multiple cellular processes in tongue development

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

Functional analysis of ESRP1/2 gene variants and CTNND1 isoforms in orofacial cleft pathogenesis

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.

DNA methylation effects on Van der Woude Syndrome phenotypic variability

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.

High incidence and geographic distribution of cleft palate cases in Finland are associated with a regulatory variant in IRF6

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

Neural crest and periderm-specific requirements of Irf6 during neural tube and craniofacial development

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

Mucin-7 as a Potential Candidate Risk Allele for Cleft Lip and/or Palate

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.

A common cis-regulatory variant impacts normal-range and disease-associated human facial shape through regulation of PKDCC during chondrogenesis

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.

Filamin A mediates embryonical palatal fusion by linking mechanotransduction with β-Catenin/Smad2

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.

A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development.

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.

Trio-based GWAS identifies novel associations and subtype-specific risk factors for cleft palate

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.

Disruption of fos causes craniofacial anomalies in developing zebrafish

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

Integrative analysis of transcriptomics in human craniofacial development reveals novel candidate disease genes

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

Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?

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.

Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial clefting

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.

Spatial Multiomics Reveal the Role of Wnt Modulator, Dkk2, in Palatogenesis

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

Early embryogenesis in CHDFIDD mouse model reveals facial clefts and altered craniofacial neurogenesis

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

The Tip60/Ep400 chromatin remodeling complex impacts basic cellular functions in cranial neural crest-derived tissue during early orofacial development

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.

Integrated spatiotemporal transcriptomic resolution of embryonic palate osteogenesis

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.

Rare genetic variants in SEC24D modify orofacial cleft phenotypes

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

Canonical Wnt signaling regulates soft palate development through mediating ciliary homeostasis

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