論文 - 詳細
| RRC ID | 19 |
|---|---|
| 著者 | Grinberg I, Northrup H, Ardinger H, Prasad C, Dobyns WB, Millen KJ. |
| タイトル | Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation. |
| ジャーナル | 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. |
| 巻・号 | 36(10) |
| ページ | 1053-5 |
| 公開日 | 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 |
| 引用数 | 132 |
| WOS 分野 | GENETICS & HEREDITY |
| オルトメトリクス指標 |
オルトメトリクス指標項目
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| 最多言及媒体 | Wikipedia |
| 各媒体での言及数の合計 | 3 |
| 過去6か月間でのオルトメトリクス指標の変動値 | 0.0 |
| リソース情報 | |
| 実験動物マウス | RBRC00702 |