Reference - Detail
| RRC ID | 19 |
|---|---|
| Author | Grinberg I, Northrup H, Ardinger H, Prasad C, Dobyns WB, Millen KJ. |
| Title | Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation. |
| Journal | Nat Genet |
| 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. |
| Volume | 36(10) |
| Pages | 1053-5 |
| Published | 2004-10-1 |
| DOI | 10.1038/ng1420 |
| PII | ng1420 |
| PMID | 15338008 |
| MeSH | Animals Cerebellum / abnormalities Child Chromosome Deletion* Chromosomes, Human, Pair 3 / genetics Dandy-Walker Syndrome / genetics* Dandy-Walker Syndrome / pathology Disease Models, Animal Genetic Linkage Heterozygote Humans Magnetic Resonance Imaging Mice Mice, Mutant Strains Molecular Sequence Data Nerve Tissue Proteins / genetics* Phenotype Physical Chromosome Mapping Transcription Factors / genetics* Zinc Fingers / genetics |
| IF | 27.605 |
| Times Cited | 132 |
| WOS Category | GENETICS & HEREDITY |
| Altmetric score |
オルトメトリクス指標項目
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| The most frequently cited source | Wikipedia |
| Total number of mentions | 3 |
| Altmetric score changes over past 6months | 0.0 |
| Resource | |
| Mice | RBRC00702 |