Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Abnormal Cortical Gyration | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by term: Abnormal cortical gyration | ClinVar | PMID:18414213 | autistic disorder | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:21681106, PMID:30208311 | Choristoma | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by term: Ectopic tissue | ClinVar | PMID:10369164 more ... | Classical Lissencephalies and Subcortical Band Heterotopias | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by term: Lissencephaly, X-linked | ClinVar | PMID:10369164 more ... | developmental and epileptic encephalopathy 36 | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 | ClinVar | PMID:28492532 | epilepsy | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | PMID:17111359 more ... | fucosidosis | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by term: Fucosidosis | ClinVar | PMID:25741868 | genetic disease | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:10369164 more ... | lissencephaly | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by term: Lissencephaly | ClinVar | PMID:10369164 more ... | Lissencephaly and Agenesis of Corpus Callosum | | ISO | RGD:1348637 | 8554872 | ClinVar more ... | ClinVar | PMID:10369164 more ... | Nervous System Malformations | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by term: Abnormality of the nervous system | ClinVar | PMID:25741868 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by term: Abnormality of the cerebrum | ClinVar | PMID:11468322 more ... | Neurodevelopmental Disorders | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868, PMID:9489700 | schizophrenia | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by term: Schizophrenia | ClinVar | PMID:21681106, PMID:30208311 | subcortical band heterotopia | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by term: Subcortical band heterotopia | ClinVar | PMID:10915612 more ... | syndromic X-linked intellectual disability Lubs type | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type | ClinVar | PMID:25741868 | X-linked lissencephaly 1 | | ISO | RGD:1348637 | 8554872 | ClinVar Annotator: match by term: Lissencephaly type 1 due to doublecortin gene mutation | ClinVar | PMID:10369164 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Isolated lissencephaly sequence and double-cortex syndrome in a German family with a novel doublecortin mutation. | Aigner L, etal., Neuropediatrics. 2000 Aug;31(4):195-8. |
| 2. | Neuronal replacement from endogenous precursors in the adult brain after stroke. | Arvidsson A, etal., Nat Med. 2002 Sep;8(9):963-70. doi: 10.1038/nm747. Epub 2002 Aug 5. |
| 3. | RNAi reveals doublecortin is required for radial migration in rat neocortex. | Bai J, etal., Nat Neurosci 2003 Dec;6(12):1277-83. Epub 2003 Nov 16. |
| 4. | Doublecortin is required in mice for lamination of the hippocampus but not the neocortex. | Corbo JC, etal., J Neurosci 2002 Sep 1;22(17):7548-57. |
| 5. | Doublecortin (DCX) immunoreactivity in hippocampus of chronic refractory temporal lobe epilepsy patients with hippocampal sclerosis. | D'Alessio L, etal., Seizure. 2010 Nov;19(9):567-72. doi: 10.1016/j.seizure.2010.09.004. |
| 6. | doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH). | des Portes V, etal., Hum Mol Genet. 1998 Jul;7(7):1063-70. |
| 7. | The effect of amygdala kindling on hippocampal neurogenesis coincides with decreased reelin and DISC1 expression in the adult dentate gyrus. | Fournier NM, etal., Hippocampus. 2009 Jun 4. |
| 8. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 9. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
| 10. | Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations. | Guerrini R, etal., Ann Neurol. 2003 Jul;54(1):30-7. |
| 11. | Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia. | Haverfield EV, etal., Eur J Hum Genet. 2009 Jul;17(7):911-8. doi: 10.1038/ejhg.2008.213. Epub 2008 Dec 3. |
| 12. | Time course of spinal doublecortin expression in developing rat and porcine spinal cord: implication in in vivo neural precursor grafting studies. | Juhasova J, etal., Cell Mol Neurobiol. 2015 Jan;35(1):57-70. doi: 10.1007/s10571-014-0145-7. Epub 2014 Dec 9. |
| 13. | A novel mutation of the doublecortin gene in Japanese patients with X-linked lissencephaly and subcortical band heterotopia. | Kato M, etal., Hum Genet. 1999 Apr;104(4):341-4. |
| 14. | Analysis of adult neurogenesis: evidence for a prominent "non-neurogenic" DCX-protein pool in rodent brain. | Kremer T, etal., PLoS One. 2013 May 14;8(5):e59269. doi: 10.1371/journal.pone.0059269. Print 2013. |
| 15. | Spontaneous epileptic manifestations in a DCX knockdown model of human double cortex. | Lapray D, etal., Cereb Cortex. 2010 Nov;20(11):2694-701. doi: 10.1093/cercor/bhq014. Epub 2010 Feb 17. |
| 16. | Dcx reexpression reduces subcortical band heterotopia and seizure threshold in an animal model of neuronal migration disorder. | Manent JB, etal., Nat Med. 2009 Jan;15(1):84-90. doi: 10.1038/nm.1897. Epub 2008 Dec 21. |
| 17. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
| 18. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
| 19. | Epilepsy in Dcx knockout mice associated with discrete lamination defects and enhanced excitability in the hippocampus. | Nosten-Bertrand M, etal., PLoS One. 2008 Jun 25;3(6):e2473. doi: 10.1371/journal.pone.0002473. |
| 20. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 21. | GOA pipeline | RGD automated data pipeline |
| 22. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 23. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 24. | Ectopic doublecortin gene expression suppresses the malignant phenotype in glioblastoma cells. | Santra M, etal., Cancer Res. 2006 Dec 15;66(24):11726-35. |
| 25. | Effect of doublecortin on self-renewal and differentiation in brain tumor stem cells. | Santra M, etal., Cancer Sci. 2011 Jul;102(7):1350-7. doi: 10.1111/j.1349-7006.2011.01952.x. Epub 2011 May 10. |
| 26. | Single doublecortin gene therapy significantly reduces glioma tumor volume. | Santra M, etal., J Neurosci Res. 2010 Feb 1;88(2):304-14. doi: 10.1002/jnr.22207. |
| 27. | Doublecortin associates with microtubules preferentially in regions of the axon displaying actin-rich protrusive structures. | Tint I, etal., J Neurosci. 2009 Sep 2;29(35):10995-1010. doi: 10.1523/JNEUROSCI.3399-09.2009. |
| 28. | A novel DCX missense mutation in a family with X-linked lissencephaly and subcortical band heterotopia syndrome inherited from a low-level somatic mosaic mother: Genetic and functional studies. | Tsai MH, etal., Eur J Paediatr Neurol. 2016 Sep;20(5):788-94. doi: 10.1016/j.ejpn.2016.05.010. Epub 2016 May 30. |
| 29. | Perinatal iodine deficiency and hypothyroidism increase cell apoptosis and alter doublecortin and reelin protein expressions in rat cerebellum. | Wang Y, etal., Arch Med Res. 2012 May;43(4):255-64. doi: 10.1016/j.arcmed.2012.05.002. Epub 2012 May 15. |
| 30. | [Neurogenesis in the dentate gyrus of the hippocampus in a rat model of intracerebral hemorrhage]. | Xu X, etal., Nan Fang Yi Ke Da Xue Xue Bao. 2013 Oct;33(10):1437-41. |
| 31. | Doublecortin (DCX) mediates endocytosis of neurofascin independently of microtubule binding. | Yap CC, etal., J Neurosci. 2012 May 30;32(22):7439-53. doi: 10.1523/JNEUROSCI.5318-11.2012. |
| 32. | Effects of treadmill exercise on cell proliferation and differentiation in the subgranular zone of the dentate gyrus in a rat model of type II diabetes. | Yi SS, etal., Neurochem Res. 2009 Jun;34(6):1039-46. doi: 10.1007/s11064-008-9870-y. Epub 2008 Nov 4. |
Additional References at PubMed
| PMID:12223548 | PMID:14741102 | PMID:15632090 | PMID:15804431 | PMID:16387638 | PMID:16387639 | PMID:17026970 | PMID:17161913 | PMID:17409252 | PMID:18075265 | PMID:18177494 | PMID:18647639 |
| PMID:18803236 | PMID:18854839 | PMID:19342486 | PMID:20857512 | PMID:21689730 | PMID:22038821 | PMID:22197046 | PMID:22198017 | PMID:22198688 | PMID:23001563 | PMID:23447615 | PMID:23852478 |
| PMID:23861879 | PMID:24367100 | PMID:25209608 | PMID:27487661 | PMID:29476059 | PMID:32236698 | PMID:32783282 | PMID:33843023 |
Genomics
Comparative Map Data
| Dcx (Rattus norvegicus - Norway rat) |
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| DCX (Homo sapiens - human) |
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| Dcx (Mus musculus - house mouse) |
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| Dcx (Chinchilla lanigera - long-tailed chinchilla) |
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| DCX (Pan paniscus - bonobo/pygmy chimpanzee) |
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| DCX (Canis lupus familiaris - dog) |
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| Dcx (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| DCX (Sus scrofa - pig) |
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| DCX (Chlorocebus sabaeus - green monkey) |
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| Dcx (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in Dcx
1116 total Variants 
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