Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | AQP4 | Human | intellectual disability | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | | AQP4 | Human | Megalencephalic Leukoencephalopathy with Subcortical Cysts 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 4 and remitting | ClinVar | PMID:25741868 | AQP4 | Human | Megalencephalic Leukoencephalopathy with Subcortical Cysts 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 4 and remitting | ClinVar | PMID:37143309 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Quantitation of brain edema and localisation of aquaporin 4 expression in relation to susceptibility to experimental cerebral malaria. | Ampawong S, etal., Int J Clin Exp Pathol. 2011 Aug 15;4(6):566-74. Epub 2011 Jul 23. |
| 2. | Hypoalgesia in mice lacking aquaporin-4 water channels. | Bao F, etal., Brain Res Bull. 2010 Nov 20;83(6):298-303. doi: 10.1016/j.brainresbull.2010.08.015. Epub 2010 Sep 22. |
| 3. | Changes in the astrocytic aquaporin-4 and inwardly rectifying potassium channel expression in the brain of the amyotrophic lateral sclerosis SOD1(G93A) rat model. | Bataveljic D, etal., Glia. 2012 Dec;60(12):1991-2003. doi: 10.1002/glia.22414. Epub 2012 Sep 14. |
| 4. | [The effects of ketamine pretreated on cerebral edema and AQP4 expression after transient focal cerebral ischemia/reperfusion in rats]. | Cai SN and Zhu SM, Zhonghua Yi Xue Za Zhi. 2010 Jun 15;90(23):1648-51. |
| 5. | Molecular analysis of aquaporin genes 1 to 4 in patients with Meniere's disease. | Candreia C, etal., Cell Physiol Biochem. 2010;26(4-5):787-92. doi: 10.1159/000322346. Epub 2010 Oct 29. |
| 6. | Aquaporin-4 water channel expression by thymoma of patients with and without myasthenia gravis. | Chan KH, etal., J Neuroimmunol. 2010 Oct 8;227(1-2):178-84. Epub 2010 Aug 21. |
| 7. | Novel role of aquaporin-4 in CD4+ CD25+ T regulatory cell development and severity of Parkinson's disease. | Chi Y, etal., Aging Cell. 2011 Jun;10(3):368-82. doi: 10.1111/j.1474-9726.2011.00677.x. Epub 2011 Mar 22. |
| 8. | Age-related hearing loss: aquaporin 4 gene expression changes in the mouse cochlea and auditory midbrain. | Christensen N, etal., Brain Res. 2009 Feb 9;1253:27-34. doi: 10.1016/j.brainres.2008.11.070. Epub 2008 Dec 3. |
| 9. | Aquaporin 4 knockdown exacerbates streptozotocin-induced diabetic retinopathy through aggravating inflammatory response. | Cui B, etal., Exp Eye Res. 2012 May;98:37-43. doi: 10.1016/j.exer.2012.02.013. Epub 2012 Mar 16. |
| 10. | Alleviation of brain injury by applying TGN-020 in the supraoptic nucleus via inhibiting vasopressin neurons in rats of focal ischemic stroke. | Cui D, etal., Life Sci. 2021 Jan 1;264:118683. doi: 10.1016/j.lfs.2020.118683. Epub 2020 Oct 28. |
| 11. | Anti-aquaporin-4 antibodies in the context of assorted immune-mediated diseases. | Dellavance A, etal., Eur J Neurol. 2011 Jul 19. doi: 10.1111/j.1468-1331.2011.03479.x. |
| 12. | Changes in ocular aquaporin-4 (AQP4) expression following retinal injury. | Dibas A, etal., Mol Vis. 2008 Sep 25;14:1770-83. |
| 13. | Changes in ocular aquaporin expression following optic nerve crush. | Dibas A, etal., Mol Vis. 2010 Mar 3;16:330-40. |
| 14. | Brain expression of the water channels Aquaporin-1 and -4 in mice with acute liver injury, hyperammonemia and brain edema. | Eefsen M, etal., Metab Brain Dis. 2010 Sep;25(3):315-23. Epub 2010 Oct 12. |
| 15. | Anti-aquaporin-4 IgG in Patients Presenting with Unilateral Optic Neuritis: A Cohort Study. | Etemadifar M, etal., Int J Prev Med. 2012 Sep;3(9):612-5. |
| 16. | Altered expression of aquaporins 1 and 4 coincides with neurodegenerative events in retinas of spontaneously diabetic Torii rats. | Fukuda M, etal., Exp Eye Res. 2010 Jan;90(1):17-25. Epub 2009 Sep 11. |
| 17. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
| 18. | Temporal profiles of aquaporin 4 expression and astrocyte response in the process of brain damage in fat embolism model in rats. | Gohara T, etal., J Anesth. 2010 Apr;24(2):225-33. Epub 2010 Jan 29. |
| 19. | Rapamycin alleviates brain edema after focal cerebral ischemia reperfusion in rats. | Guo W, etal., Immunopharmacol Immunotoxicol. 2014 Jun;36(3):211-23. doi: 10.3109/08923973.2014.913616. Epub 2014 Apr 29. |
| 20. | Variants of the genes encoding AQP4 and Kir4.1 are associated with subgroups of patients with temporal lobe epilepsy. | Heuser K, etal., Epilepsy Res. 2010 Jan;88(1):55-64. Epub 2009 Oct 28. |
| 21. | Retinal ectopias and mechanically weakened basement membrane in a mouse model of muscle-eye-brain (MEB) disease congenital muscular dystrophy. | Hu H, etal., Mol Vis. 2010 Jul 28;16:1415-28. |
| 22. | The relationship between aquaporin-4 expression and blood-brain and spinal cord barrier permeability following experimental autoimmune encephalomyelitis in the rat. | Huang XN, etal., Anat Rec (Hoboken). 2011 Jan;294(1):46-54. doi: 10.1002/ar.21286. Epub 2010 Nov 12. |
| 23. | Pretreatment with a novel aquaporin 4 inhibitor, TGN-020, significantly reduces ischemic cerebral edema. | Igarashi H, etal., Neurol Sci. 2011 Feb;32(1):113-6. Epub 2010 Oct 6. |
| 24. | Immunohistochemical localization and mRNA expression of aquaporins in the macula utriculi of patients with Meniere's disease and acoustic neuroma. | Ishiyama G, etal., Cell Tissue Res. 2010 Jun;340(3):407-19. doi: 10.1007/s00441-010-0975-7. Epub 2010 May 12. |
| 25. | Molecular characterization of an aquaporin cDNA from brain: candidate osmoreceptor and regulator of water balance. | Jung JS, etal., Proc Natl Acad Sci U S A 1994 Dec 20;91(26):13052-6. |
| 26. | Relationship between NMO-antibody and anti-MOG antibody in optic neuritis. | Kezuka T, etal., J Neuroophthalmol. 2012 Jun;32(2):107-10. doi: 10.1097/WNO.0b013e31823c9b6c. |
| 27. | Astroglial loss and edema formation in the rat piriform cortex and hippocampus following pilocarpine-induced status epilepticus. | Kim JE, etal., J Comp Neurol. 2010 Nov 15;518(22):4612-28. |
| 28. | Protective role of aquaporin-4 water channels after contusion spinal cord injury. | Kimura A, etal., Ann Neurol. 2010 Jun;67(6):794-801. |
| 29. | Longitudinally extensive transverse myelitis with and without aquaporin 4 antibodies. | Kitley J, etal., JAMA Neurol. 2013 Nov;70(11):1375-81. doi: 10.1001/jamaneurol.2013.3890. |
| 30. | Aquaporins in the kidney. | Kwon TH, etal., Handb Exp Pharmacol. 2009;(190):95-132. doi: 10.1007/978-3-540-79885-9_5. |
| 31. | Decreased expression of the glial water channel aquaporin-4 in the intrahippocampal kainic acid model of epileptogenesis. | Lee DJ, etal., Exp Neurol. 2012 May;235(1):246-55. doi: 10.1016/j.expneurol.2012.02.002. Epub 2012 Feb 14. |
| 32. | IgG marker of optic-spinal multiple sclerosis binds to the aquaporin-4 water channel. | Lennon VA, etal., J Exp Med. 2005 Aug 15;202(4):473-7. Epub 2005 Aug 8. |
| 33. | Impaired hearing in mice lacking aquaporin-4 water channels. | Li J and Verkman AS, J Biol Chem 2001 Aug 17;276(33):31233-7. Epub 2001 Jun 13. |
| 34. | Greatly attenuated experimental autoimmune encephalomyelitis in aquaporin-4 knockout mice. | Li L, etal., BMC Neurosci. 2009 Aug 6;10:94. |
| 35. | The Involvement of Aquaporin-4 in the Interstitial Fluid Drainage Impairment Following Subarachnoid Hemorrhage. | Liu E, etal., Front Aging Neurosci. 2021 Jan 26;12:611494. doi: 10.3389/fnagi.2020.611494. eCollection 2020. |
| 36. | Arginine-vasopressin V1 but not V2 receptor antagonism modulates infarct volume, brain water content, and aquaporin-4 expression following experimental stroke. | Liu X, etal., Neurocrit Care. 2010 Feb;12(1):124-31. |
| 37. | Calcitonin gene-related peptide prevents blood-brain barrier injury and brain edema induced by focal cerebral ischemia reperfusion. | Liu Z, etal., Regul Pept. 2011 Nov 10;171(1-3):19-25. Epub 2011 Jun 28. |
| 38. | [The effect of AQP4 gene on the activation of retinal glial cells in chronic high intraocular pressure mice]. | Luo SS, etal., Zhonghua Yan Ke Za Zhi. 2012 Jul;48(7):598-603. |
| 39. | Preliminary study on the association of AQP4 promoter polymorphism with anti-aquaporin-4 antibody positivity in southern Han Chinese patients with idiopathic demyelinating disorders of central nervous system. | Mai W, etal., J Neuroimmunol. 2013 Feb 15;255(1-2):75-80. doi: 10.1016/j.jneuroim.2012.10.004. Epub 2012 Oct 29. |
| 40. | Sulphoraphane enhances aquaporin-4 expression and decreases spinal cord oedema following spinal cord injury. | Mao L, etal., Brain Inj. 2011;25(3):300-6. Epub 2011 Jan 31. |
| 41. | Aquaporin 4 regulation during acute and long-term experimental Herpes simplex virus encephalitis. | Martinez Torres FJ, etal., J Neurovirol. 2007;13(1):38-46. |
| 42. | Aquaporin-4 astrocytopathy in Balo's disease. | Matsuoka T, etal., Acta Neuropathol. 2010 Nov;120(5):651-60. Epub 2010 Aug 3. |
| 43. | Aquaporin expression in the brains of patients with or without cerebral amyloid angiopathy. | Moftakhar P, etal., J Neuropathol Exp Neurol. 2010 Dec;69(12):1201-9. |
| 44. | Aquaporin expression in blood-retinal barrier cells during experimental autoimmune uveitis. | Motulsky E, etal., Mol Vis. 2010 Apr 3;16:602-10. |
| 45. | Transcriptional profiling of spinal cord injury-induced central neuropathic pain. | Nesic O, etal., J Neurochem. 2005 Nov;95(4):998-1014. Epub 2005 Oct 10. |
| 46. | Aquaporin-4 overexpression in rat ALS model. | Nicaise C, etal., Anat Rec (Hoboken). 2009 Feb;292(2):207-13. |
| 47. | Aquaporin-4 gene disruption in mice reduces brain swelling and mortality in pneumococcal meningitis. | Papadopoulos MC and Verkman AS, J Biol Chem. 2005 Apr 8;280(14):13906-12. Epub 2005 Feb 4. |
| 48. | Expression of aquaporin 1 and 4 in a congenital hydrocephalus rat model. | Paul L, etal., Neurosurgery. 2011 Feb;68(2):462-73. |
| 49. | Experimental autoimmune encephalomyelitis (EAE) IN C57Bl/6 mice is not associated with astrogliosis. | Pham H, etal., J Neuroimmunol. 2011 Mar;232(1-2):51-62. Epub 2010 Nov 6. |
| 50. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 51. | Evidence of aquaporin involvement in human central pontine myelinolysis. | Popescu BF, etal., Acta Neuropathol Commun. 2013 Jul 25;1(1):40. doi: 10.1186/2051-5960-1-40. |
| 52. | Loss of AQP4 polarized localization with loss of beta-dystroglycan immunoreactivity may induce brain edema following intracerebral hemorrhage. | Qiu GP, etal., Neurosci Lett. 2015 Feb 19;588:42-8. doi: 10.1016/j.neulet.2014.12.053. Epub 2014 Dec 27. |
| 53. | Brain aquaporin-4 in experimental acute liver failure. | Rama Rao KV, etal., J Neuropathol Exp Neurol. 2010 Sep;69(9):869-79. |
| 54. | Involvement of antibody-dependent cell-mediated cytotoxicity in inflammatory demyelination in a mouse model of neuromyelitis optica. | Ratelade J, etal., Acta Neuropathol. 2013 Nov;126(5):699-709. doi: 10.1007/s00401-013-1172-z. Epub 2013 Aug 31. |
| 55. | Effects of intravitreal triamcinolone acetonide on retinal gene expression in a rat model of central retinal vein occlusion. | Rehak M, etal., Graefes Arch Clin Exp Ophthalmol. 2011 Aug;249(8):1175-83. Epub 2011 Apr 13. |
| 56. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 57. | Intra-cerebral injection of neuromyelitis optica immunoglobulin G and human complement produces neuromyelitis optica lesions in mice. | Saadoun S, etal., Brain. 2010 Feb;133(Pt 2):349-61. Epub 2010 Jan 4. |
| 58. | [Deficiency of water channel AQP4 aggravates NMDA-induced brain injury in mice]. | Shi WZ, etal., Zhejiang Da Xue Xue Bao Yi Xue Ban. 2011 Mar;40(2):145-9. |
| 59. | Intractable hiccup and nausea in neuromyelitis optica with anti-aquaporin-4 antibody: a herald of acute exacerbations. | Takahashi T, etal., J Neurol Neurosurg Psychiatry. 2008 Sep;79(9):1075-8. doi: 10.1136/jnnp.2008.145391. Epub 2008 Apr 17. |
| 60. | Anti-aquaporin 4 antibody in selected Japanese multiple sclerosis patients with long spinal cord lesions. | Tanaka K, etal., Mult Scler. 2007 Aug;13(7):850-5. Epub 2007 Apr 27. |
| 61. | Anti-aquaporin 4 antibody in Japanese multiple sclerosis: the presence of optic spinal multiple sclerosis without long spinal cord lesions and anti-aquaporin 4 antibody. | Tanaka M, etal., J Neurol Neurosurg Psychiatry. 2007 Sep;78(9):990-2. |
| 62. | Critical role of aquaporin-4 (AQP4) in astrocytic Ca2+ signaling events elicited by cerebral edema. | Thrane AS, etal., Proc Natl Acad Sci U S A. 2011 Jan 11;108(2):846-51. Epub 2010 Dec 27. |
| 63. | [Changes of VEGF and AQPs gene and protein expression in rat brain tissue during hypoxic encephaledema]. | Tian YM, etal., Zhongguo Ying Yong Sheng Li Xue Za Zhi. 2011 Feb;27(1):7-11. |
| 64. | Expression of aquaporins 1 and 4 in the brain of spontaneously hypertensive rats. | Tomassoni D, etal., Brain Res. 2010 Apr 14;1325:155-63. Epub 2010 Feb 12. |
| 65. | Effect of decompressive craniectomy on aquaporin-4 expression after lateral fluid percussion injury in rats. | Tomura S, etal., J Neurotrauma. 2011 Feb;28(2):237-43. |
| 66. | Anti-aquaporin-4 monoclonal antibody blocker therapy for neuromyelitis optica. | Tradtrantip L, etal., Ann Neurol. 2012 Mar;71(3):314-22. doi: 10.1002/ana.22657. Epub 2012 Jan 23. |
| 67. | Beneficial effect of agmatine on brain apoptosis, astrogliosis, and edema after rat transient cerebral ischemia. | Wang CC, etal., BMC Pharmacol. 2010 Sep 6;10:11. doi: 10.1186/1471-2210-10-11. |
| 68. | 2-Methoxyestradiol inhibits the up-regulation of AQP4 and AQP1 expression after spinal cord injury. | Wang YF, etal., Brain Res. 2011 Jan 25;1370:220-6. Epub 2010 Nov 16. |
| 69. | Role of aquaporin-4 in the development of brain oedema in liver failure. | Wright G, etal., J Hepatol. 2010 Jul;53(1):91-7. Epub 2010 Apr 1. |
| 70. | Time course of upregulation of inflammatory mediators in the hemorrhagic brain in rats: correlation with brain edema. | Wu H, etal., Neurochem Int. 2010 Oct;57(3):248-53. Epub 2010 Jun 10. |
| 71. | Myelin oligodendrocyte glycoprotein induces aquaporin-4 autoantibodies in mouse experimental autoimmune encephalomyelitis. | Wu X, etal., J Neuroimmunol. 2013 Aug 15;261(1-2):1-6. doi: 10.1016/j.jneuroim.2013.03.008. Epub 2013 May 22. |
| 72. | Clinical features and sera anti-aquaporin 4 antibody positivity in patients with demyelinating disorders of the central nervous system from Tianjin, China. | Yang CS, etal., CNS Neurosci Ther. 2014 Jan;20(1):32-9. doi: 10.1111/cns.12156. Epub 2013 Jul 27. |
| 73. | Temporal changes in expression of aquaporin-3, -4, -5 and -8 in rat brains after permanent focal cerebral ischemia. | Yang M, etal., Brain Res. 2009 Sep 22;1290:121-32. Epub 2009 Jul 16. |
| 74. | Differential Regulations of AQP4 and Kir4.1 by Triamcinolone Acetonide and Dexamethasone in the Healthy and Inflamed Retina. | Zhao M, etal., Invest Ophthalmol Vis Sci. 2011 Aug 11;52(9):6340-7. Print 2011 Sep. |
| 75. | Favorable effects of MMP-9 knockdown in murine herpes simplex encephalitis using small interfering RNA. | Zhou Y, etal., Neurol Res. 2010 Oct;32(8):801-9. doi: 10.1179/016164110X12644252260556. Epub 2010 May 18. |
Additional References at PubMed
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| PMID:30791865 | PMID:30873889 | PMID:30981824 | PMID:31028503 | PMID:31068220 | PMID:31078684 | PMID:31092756 | PMID:31156164 | PMID:31220136 | PMID:31286866 | PMID:31674022 | PMID:31746080 |
| PMID:31752329 | PMID:31896291 | PMID:31912092 | PMID:32059400 | PMID:32111161 | PMID:32167542 | PMID:32296044 | PMID:32296183 | PMID:32369477 | PMID:32521482 | PMID:32575026 | PMID:32702642 |
| PMID:32737792 | PMID:32829484 | PMID:32998402 | PMID:33068891 | PMID:33147540 | PMID:33297299 | PMID:33301561 | PMID:33418309 | PMID:33455522 | PMID:33479350 | PMID:33538957 | PMID:33629286 |
| PMID:33802046 | PMID:34168058 | PMID:34263427 | PMID:34474133 | PMID:34509490 | PMID:34597351 | PMID:34650163 | PMID:34715591 | PMID:34753987 | PMID:35069584 | PMID:35163040 | PMID:35187599 |
| PMID:35260880 | PMID:35346374 | PMID:35454180 | PMID:35625560 | PMID:35709078 | PMID:35715607 | PMID:35896371 | PMID:36142348 | PMID:36303271 | PMID:36520371 | PMID:36599974 | PMID:36610359 |
| PMID:36610362 | PMID:36626962 | PMID:36796590 | PMID:36830582 | PMID:36922751 | PMID:37020131 | PMID:37032643 | PMID:37037365 | PMID:37143309 | PMID:37191905 | PMID:37821965 | PMID:37975746 |
| PMID:38114727 | PMID:38141747 | PMID:38224279 | PMID:38307548 | PMID:38338949 | PMID:38383779 | PMID:38576611 | PMID:38802114 |
Genomics
Comparative Map Data
| AQP4 (Homo sapiens - human) |
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| Aqp4 (Mus musculus - house mouse) |
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| Aqp4 (Rattus norvegicus - Norway rat) |
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| Aqp4 (Chinchilla lanigera - long-tailed chinchilla) |
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| AQP4 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| AQP4 (Canis lupus familiaris - dog) |
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| Aqp4 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| AQP4 (Sus scrofa - pig) |
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| AQP4 (Chlorocebus sabaeus - green monkey) |
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| Aqp4 (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in AQP4
21 total Variants 
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