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

FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.

Nature genetics - 1 Sept 2009

Aldinger Kimberly A, Lehmann Ordan J, Hudgins Louanne, Chizhikov Victor V, Bassuk Alexander G, Ades Lesley C, Krantz Ian D, Dobyns William B, Millen Kathleen J

Abstract excerpt

Dandy-Walker malformation (DWM), the most common human cerebellar malformation, has only one characterized associated locus. Here we characterize a second DWM-linked locus on 6p25.3, showing that deletions or duplications encompassing FOXC1 are associated with cerebellar and posterior fossa malformations including cerebellar vermis hypoplasia (CVH), mega-cisterna magna (MCM) and DWM. Foxc1-null mice have...

Read the complete abstract on PubMed

Topics

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

Share to Cerebellum
Share to Chromosomes, Human, Pair 6

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Congenital Abnormalities

Share to Forkhead Transcription Factors

Share to Gene Dosage

Share to Gene Duplication

Share to Physical Chromosome Mapping

Share to Ultrasonography

Source

Open in PubMed Open full text

Identifiers

PMID: 19668217
DOI: 10.1038/ng.422
PMCID: PMC2843139

Genes

FOXC1

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

FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.PMID 19668217Read ↗

Phenotypic outcomes in Mouse and Human Foxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanismsSemantic proximity Read ↗

Pre- and postnatal phenotype of 6p25 deletions involving the FOXC1 gene.Semantic proximity Read ↗

Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation.Semantic proximity Read ↗

Foxc1 dependent mesenchymal signalling drives embryonic cerebellar growthSemantic proximity Read ↗

Deregulated FGF and homeotic gene expression underlies cerebellar vermis hypoplasia in CHARGE syndrome.Semantic proximity Read ↗

Multiple developmental programs are altered by loss of<i>Zic1</i>and<i>Zic4</i>to cause Dandy-Walker malformation cerebellar pathogenesisSemantic proximity Read ↗

The 6p25 deletion syndrome: An update on a rare neurocristopathySemantic proximity Read ↗

Integrating molecular studies and clinical disease models to provide mechanistic insight into neurodevelopment: guidance from FOXG1 syndrome.Semantic proximity Read ↗

Distinct cerebellar foliation anomalies in a CHD7 haploinsufficient mouse model of CHARGE syndrome.Semantic proximity Read ↗

Paving Therapeutic Avenues for FOXG1 Syndrome: Untangling Genotypes and Phenotypes from a Molecular PerspectiveSemantic proximity Read ↗

Cerebellar hypoplasia: Differential diagnosis and diagnostic approachSemantic proximity Read ↗

Dandy-Walker malformation associated with heterozygous ZIC1 and ZIC4 deletion: Report of a new patient.Semantic proximity Read ↗

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