Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | familial adenomatous polyposis 1 | | ISO | CAST (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial adenomatous polyposis 1 | ClinVar | PMID:17963004 more ... | genetic disease | | ISO | CAST (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | Hereditary Neoplastic Syndromes | | ISO | CAST (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:17963004 more ... | Neurodevelopmental Disorders | | ISO | CAST (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | obesity | | ISO | CAST (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:18604207 more ... | PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS | | ISO | CAST (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Peeling skin with leukonychia more ... | ClinVar | PMID:25683118 more ... | proprotein convertase 1/3 deficiency | | ISO | CAST (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:14617756 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | SNPs in CAST are associated with Parkinson disease: a confirmation study. | Allen AS and Satten GA, Am J Med Genet B Neuropsychiatr Genet. 2010 Jun 5;153B(4):973-9. |
| 2. | Novel mechanisms of target cell death and survival and of therapeutic action of IVIg in Pemphigus. | Arredondo J, etal., Am J Pathol. 2005 Dec;167(6):1531-44. |
| 3. | Calpastatin is up-regulated in response to hypoxia and is a suicide substrate to calpain after neonatal cerebral hypoxia-ischemia. | Blomgren K, etal., J Biol Chem. 1999 May 14;274(20):14046-52. |
| 4. | Identification of novel markers for monitoring minimal residual disease in acute lymphoblastic leukemia. | Chen JS, etal., Blood. 2001 Apr 1;97(7):2115-20. |
| 5. | Detection and expression of a cDNA clone that encodes a polypeptide containing two inhibitory domains of human calpastatin and its recognition by rheumatoid arthritis sera. | Despres N, etal., J Clin Invest. 1995 Apr;95(4):1891-6. |
| 6. | Calpain, calpastatin activities and ratios during myocardial ischemia-reperfusion. | Enns D, etal., Mol Cell Biochem. 2002 Dec;241(1-2):29-35. |
| 7. | Calpain/calpastatin activities and substrate depletion patterns during hindlimb unweighting and reweighting in skeletal muscle. | Enns DL, etal., Eur J Appl Physiol. 2007 Jul;100(4):445-55. Epub 2007 Apr 12. |
| 8. | Calpain activation impairs neuromuscular transmission in a mouse model of the slow-channel myasthenic syndrome. | Groshong JS, etal., J Clin Invest. 2007 Oct;117(10):2903-12. |
| 9. | 3-[2-[4-(3-Chloro-2-methylphenylmethyl)-1-piperazinyl]ethyl]-5,6-dimethoxy -1-(4-imidazolylmethyl)-1H-indazole dihydro-chloride 3.5 hydrate (DY-9760e) is neuroprotective in rat microsphere embolism: role of the cross-talk between calpain and caspase-3 through calpastatin. | Han F, etal., J Pharmacol Exp Ther. 2006 May;317(2):529-36. Epub 2006 Feb 8. |
| 10. | Functional annotation of a full-length mouse cDNA collection. | Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90. |
| 11. | Multiple forms of rat calpastatin cDNA in the coding region of functionally unknown amino-terminal domain. | Lee WJ, etal., Biochim Biophys Acta 1992 Jan 6;1129(2):251-3. |
| 12. | Calpain activation promotes BACE1 expression, amyloid precursor protein processing, and amyloid plaque formation in a transgenic mouse model of Alzheimer disease. | Liang B, etal., J Biol Chem. 2010 Sep 3;285(36):27737-44. Epub 2010 Jul 1. |
| 13. | Upregulation of calpastatin in regenerating and developing rat liver: role in resistance against hepatotoxicity. | Limaye PB, etal., Hepatology. 2006 Aug;44(2):379-88. |
| 14. | Autoantibodies directed against the protease inhibitor calpastatin in psoriasis. | Matsushita Y, etal., Clin Exp Immunol. 2005 Feb;139(2):355-62. |
| 15. | Cerebral calpain in fatal falciparum malaria. | Medana IM, etal., Neuropathol Appl Neurobiol. 2007 Apr;33(2):179-92. |
| 16. | Electronic Transfer of Homolog Data | MGD and Homologene mouse data transfer |
| 17. | MGDs mouse GO annotations | MGD data from the GO Consortium |
| 18. | Calpastatin immunoreactivity in the monkey and human brain of control subjects and patients with Parkinson's disease. | Mouatt-Prigent A, etal., J Comp Neurol. 2000 Apr 3;419(2):175-92. |
| 19. | Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. | Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73. |
| 20. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 21. | Marked calpastatin (CAST) depletion in Alzheimer's disease accelerates cytoskeleton disruption and neurodegeneration: neuroprotection by CAST overexpression. | Rao MV, etal., J Neurosci. 2008 Nov 19;28(47):12241-54. |
| 22. | Mouse MP Annotation Import Pipeline | RGD automated import pipeline |
| 23. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 24. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 25. | Effects of injury severity on regional and temporal mRNA expression levels of calpains and caspases after traumatic brain injury in rats. | Ringger NC, etal., J Neurotrauma. 2004 Jul;21(7):829-41. |
| 26. | Involvement of calpain isoforms in ischemia-reperfusion injury in rat retina. | Sakamoto YR, etal., Curr Eye Res. 2000 Jul;21(1):571-80. |
| 27. | Autoantibodies recognizing the 27 carboxy-terminal amino acids of calpastatin are associated with secondary Sjogren syndrome in systemic lupus erythematosus. | Salle V, etal., Lupus. 2004;13(10):800-4. |
| 28. | Autoantibodies directed against the amino-terminal domain I of human calpastatin (ACAST-DI Ab) in connective tissue diseases. High levels of ACAST-DI Ab are associated with vasculitis in lupus. | Saulot V, etal., J Autoimmun. 2002 Aug-Sep;19(1-2):55-61. |
| 29. | Activation of calpains, calpastatin and spectrin cleavage in the brain during the pathology of fatal murine cerebral malaria. | Shukla M, etal., Neurochem Int. 2006 Jan;48(2):108-13. Epub 2005 Oct 19. |
| 30. | Neuroprotective actions of aminoguanidine involve reduced the activation of calpain and caspase-3 in a rat model of stroke. | Sun M, etal., Neurochem Int. 2010 Mar;56(4):634-41. Epub 2010 Jan 29. |
| 31. | Expression of calpastatin, minopontin, NIPSNAP1, rabaptin-5 and neuronatin in the phenylketonuria (PKU) mouse brain: possible role on cognitive defect seen in PKU. | Surendran S, etal., Neurochem Int. 2005 Jun;46(8):595-9. Epub 2005 Apr 7. |
| 32. | Sepsis stimulates calpain activity in skeletal muscle by decreasing calpastatin activity but does not activate caspase-3. | Wei W, etal., Am J Physiol Regul Integr Comp Physiol. 2005 Mar;288(3):R580-90. Epub 2004 Nov 24. |
| 33. | [Antigenic epitopes recognized by autoantibodies to calpastatin in patients with rheumatoid arthritis and their clinical significance]. | Yasuoka H, etal., Ryumachi. 1997 Jun;37(3):458-66. |
Additional References at PubMed
| PMID:9473662 | PMID:10349636 | PMID:10403772 | PMID:10876161 | PMID:11042159 | PMID:11076861 | PMID:11090425 | PMID:11544199 | PMID:11673859 | PMID:11952156 | PMID:12477932 | PMID:12520002 |
| PMID:12819125 | PMID:14996907 | PMID:15223839 | PMID:15691848 | PMID:15699033 | PMID:16141072 | PMID:16141073 | PMID:16496301 | PMID:16602821 | PMID:16705056 | PMID:16927317 | PMID:17513017 |
| PMID:17640526 | PMID:18258859 | PMID:18799693 | PMID:18803809 | PMID:19318376 | PMID:19683220 | PMID:19880516 | PMID:20661225 | PMID:21099278 | PMID:21267068 | PMID:21268016 | PMID:21338355 |
| PMID:21791606 | PMID:21849499 | PMID:21873635 | PMID:21982763 | PMID:22173972 | PMID:23100324 | PMID:23250437 | PMID:23455548 | PMID:23565252 | PMID:23986532 | PMID:23986533 | PMID:24194600 |
| PMID:24210906 | PMID:24333421 | PMID:24619358 | PMID:24728269 | PMID:24891510 | PMID:25026177 | PMID:25648699 | PMID:25698931 | PMID:25786109 | PMID:26248159 | PMID:26453333 | PMID:26747784 |
| PMID:26756888 | PMID:26974350 | PMID:27626380 | PMID:27656030 | PMID:28386216 | PMID:28700664 | PMID:29089532 | PMID:29355642 | PMID:29996090 | PMID:30190286 | PMID:30199285 | PMID:32251313 |
| PMID:32325033 | PMID:32554809 | PMID:34197232 | PMID:34440632 | PMID:34489447 | PMID:36902150 |
Genomics
Comparative Map Data
| Cast (Mus musculus - house mouse) |
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| CAST (Homo sapiens - human) |
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| Cast (Rattus norvegicus - Norway rat) |
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| Cast (Chinchilla lanigera - long-tailed chinchilla) |
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| CAST (Pan paniscus - bonobo/pygmy chimpanzee) |
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| CAST (Canis lupus familiaris - dog) |
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| Cast (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| CAST (Sus scrofa - pig) |
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| CAST (Chlorocebus sabaeus - green monkey) |
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| Cast (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in Cast
3335 total Variants 
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