Cited by 246Fetal and Pediatric Neurological DisordersSpinal Dysraphism and MalformationsGenomic variations and chromosomal abnormalities

Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation

Grinberg, Inessa, Northrup, Hope, Ardinger, Holly, Prasad, Chitra, Dobyns, William B, Millen, Kathleen J·2004·Nature Genetics

Abstract

Dandy-Walker malformation (DWM; OMIM #220200) is a common but poorly understood congenital cerebellar malformation in humans. Through physical mapping of 3q2 interstitial deletions in several individuals with DWM, we defined the first critical region associated with DWM, encompassing two adjacent Zinc finger in cerebellum genes, ZIC1 and ZIC4. Mice with a heterozygous deletion of these two linked genes have a phenotype that closely resembles DWM, providing a mouse model for this malformation.

Integrity signals

Registry

Crossref · 10.1038/ng1420

Cites

15 of 15 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

  • ZIC1 expression is restricted to the pia mater overlying cortex, indicating SG samples captured pial cells in addition to granule cells.

    “Finally, expression of ZIC1, associated with Dandy-Walker congenital brain malformation33, was restricted to the pia mater overlying the cortex, therefore indicating that SG samples captured pial cells in addition to granule cells.”

    From Transcriptional landscape of the prenatal human brain (2014) · cites this paper as [33]

Cites

Flagged first, then by citations

Cited by

Sorted by citations

Authors
Grinberg, I., Northrup, H., Ardinger, H., Prasad, C., Dobyns, W. B., & Millen, K. J.
Affiliations
  • University of Chicago (US)
  • University of Kansas (US)
  • London Health Sciences Centre (CA)
Corresponding author
Millen, Kathleen J
Venue
Nature Genetics
Published
2004-08-29
Volume
36
Issue
10
Pages
1053-1055
ISSN
  • 1061-4036 (ISSN-L)
  • 1546-1718
OpenAlex
W2037656814
Cited by
246
References
15
Citations by year
2026: 13 · 2025: 13 · 2024: 12 · 2023: 9 · 2022: 14 · 2021: 13 · 2020: 8 · 2019: 6 · 2018: 12 · 2017: 4 · 2016: 10 · 2015: 14 · 2014: 7 · 2013: 19 · 2012: 16
FWCI
9.31
Type
journal article
Language
en
Open access
closed
Locations
  • Nature Genetics (publishedVersion)
  • PubMed (publishedVersion)
Funders
Brain Research Foundation
Topics
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
  • Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Spinal Dysraphism and Malformations
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
Keywords
Dandy-Walker malformation, ZIC1, ZIC4, heterozygous deletion, zinc finger genes, mouse model, physical mapping, critical region
MeSH terms
Animals, Cerebellum, Child, Chromosome Deletion, Chromosomes, Human, Pair 3, Dandy-Walker Syndrome, Disease Models, Animal, Heterozygote, Humans, Genetic Linkage, Magnetic Resonance Imaging, Mice, Mutant Strains, Molecular Sequence Data, Nerve Tissue Proteins, Phenotype, Transcription Factors, Zinc Fingers, Physical Chromosome Mapping, Mice

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review