Omics · study · 2026
Cranial placode differentiation defect in individuals born without a nose
Listed in NCBI GEO
Bosma arhinia microphthalmia syndrome (BAMS) is a rare congenital disorder characterized by the absence of a nose, along with eye and reproductive anomalies.
Description
BAMS is caused by heterozygous missense variants in SMCHD1, an epigenetic regulator. Despite uncovering its genetic basis, the cellular basis of the disease has remained elusive.
The embryonic development of the nose involves direct contributions from both the neural crest and cranial placodes. Here we differentiated patient-derived induced pluripotent stem cells towards the cranial placode lineage and found that they exhibited significant differentiation defects. Combined transcriptome and DNA methylome analyses further revealed dysregulation in cell adhesion but without overt apoptosis.
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Together our research suggests that BAMS is caused by impaired differentiation to cranial placode cells and changes in cell adhesion, offering new insights into the cellular pathology of this enigmatic syndrome.
Links
Get the data
- GEO FTP directory ftp.ncbi.nlm.nih.gov/geo/series/GSE296nnn/GSE296453 ↗
download · from NCBI GEO
Where it is published
- GEO accession page ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE296453 ↗
landing page · from NCBI GEO
Documentation and papers
- PRJNA1259404 ncbi.nlm.nih.gov/bioproject/PRJNA1259404 ↗
project · from NCBI GEO
- PubMed 41962546 pubmed.ncbi.nlm.nih.gov/41962546 ↗
publication · from NCBI GEO
Topics
- Stated by source
- Expression profiling by high throughput sequencing · Homo sapiens
- From keywords
- Life Sciences
- Inferred from text
- Disease 75%
Provenance · 1 source records, 8 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| NCBI GEO | GSE296453 | 13 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| access_level | source · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| concepts[disease].local:disease:disease | enrichment · NCBI GEO | keyword-concept-rules@1.0.0 | title+description (75%) |
| concepts[field].local:field:life-sciences | mapping · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| concepts[method].geo_series_type:expression-profiling-by-high-throughput-sequencing | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /gdstype |
| concepts[organism].NCBITaxon:9606 | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /taxon |
| description | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /summary |
| publication_date | source · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| title | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /title |