Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | RGD:737537 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | mandibulofacial dysostosis with alopecia | | ISO | RGD:737537 | 8554872 | ClinVar Annotator: match by term: Mandibulofacial dysostosis with alopecia | ClinVar | PMID:16116593 more ... | methylmalonic acidemia cblA type | | ISO | RGD:737537 | 8554872 | ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type | ClinVar | PMID:15523652 more ... | migraine | | ISO | RGD:737537 | 8554872 | ClinVar Annotator: match by term: Migraine, resistance to | ClinVar | PMID:11376172, PMID:23058564 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Developmental changes in the functional, biochemical and molecular properties of rat bladder endothelin receptors. | Afiatpour P, etal., Naunyn Schmiedebergs Arch Pharmacol. 2003 May;367(5):462-72. Epub 2003 Apr 17. |
| 2. | Inhibition of endothelin-1 receptors improves impaired nitric oxide synthase-dependent dilation of cerebral arterioles in type-1 diabetic rats. | Arrick DM and Mayhan WG, Microcirculation. 2010 Aug;17(6):439-46. |
| 3. | ETA receptor-mediated Ca2+ signaling in thin descending limbs of Henle's loop: impairment in genetic hypertension. | Bailey MA, etal., Kidney Int. 2003 Apr;63(4):1276-84. |
| 4. | Major role for hypoxia inducible factor-1 and the endothelin system in promoting myocardial infarction and hypertension in an animal model of obstructive sleep apnea. | Belaidi E, etal., J Am Coll Cardiol. 2009 Apr 14;53(15):1309-17. |
| 5. | Association of EDNRA, but not WNK4 or FKBP1B, polymorphisms with essential hypertension. | Benjafield AV, etal., Clin Genet. 2003 Nov;64(5):433-8. |
| 6. | Endothelin-1 receptor subtypes expression and binding in a perfused rat model of myocardial infarction. | Bikhazi AB, etal., Comp Biochem Physiol C Toxicol Pharmacol. 2003 Jan;134(1):35-43. |
| 7. | Functional endothelin receptors are present on nuclei in cardiac ventricular myocytes. | Boivin B, etal., J Biol Chem. 2003 Aug 1;278(31):29153-63. Epub 2003 May 19. |
| 8. | Genetic polymorphisms in endothelin-receptor-subtype-a-gene as susceptibility factor for obstructive sleep apnea syndrome. | Buck D, etal., Sleep Med. 2010 Feb;11(2):213-7. Epub 2010 Jan 18. |
| 9. | Murine and rat cavernosal responses to endothelin-1 and urotensin-II Vasoactive Peptide Symposium. | Carneiro FS, etal., J Am Soc Hypertens. 2008 Nov;2(6):439-447. |
| 10. | ETA receptor-mediated Ca2+ mobilisation in H9c2 cardiac cells. | Ceccarelli F, etal., Biochem Pharmacol 2003 Mar 1;65(5):783-93. |
| 11. | Effects of chronic cold exposure on the endothelin system. | Chen GF and Sun Z, J Appl Physiol. 2006 May;100(5):1719-26. Epub 2005 Dec 29. |
| 12. | Endothelin-1 receptor antagonists prevent the development of pulmonary emphysema in rats. | Chen Y, etal., Eur Respir J. 2010 Apr;35(4):904-12. Epub 2009 Nov 6. |
| 13. | Endothelins as pronociceptive mediators of the rat trigeminal system: role of ETA and ETB receptors. | Chichorro JG, etal., Brain Res. 2010 Jul 23;1345:73-83. Epub 2010 May 5. |
| 14. | Endothelin-1 impairs alveolar epithelial function via endothelial ETB receptor. | Comellas AP, etal., Am J Respir Crit Care Med. 2009 Jan 15;179(2):113-22. Epub 2008 Oct 23. |
| 15. | Increased ET-1 and reduced ET(B) receptor expression in uremic hypertensive rats. | D'Amours M, etal., Clin Exp Hypertens. 2010 Jan;32(1):61-9. |
| 16. | EDNRA variants associate with smooth muscle mRNA levels, cell proliferation rates, and cystic fibrosis pulmonary disease severity. | Darrah R, etal., Physiol Genomics. 2010 Mar 3;41(1):71-7. Epub 2009 Dec 22. |
| 17. | Increased endothelin-1 reactivity and endothelial dysfunction in carotid arteries from rats with hyperhomocysteinemia. | de Andrade CR, etal., Br J Pharmacol. 2009 Jun;157(4):568-80. Epub 2009 Apr 9. |
| 18. | Age-related changes in endothelin-1 receptor subtypes in rat heart. | Del Ry S, etal., Exp Aging Res. 2008 Jul-Sep;34(3):251-66. |
| 19. | Upregulation of endothelin receptors A and B in the nitrofen induced hypoplastic lung occurs early in gestation. | Dingemann J, etal., Pediatr Surg Int. 2010 Jan;26(1):65-9. |
| 20. | Enhanced expression of renal endothelin-converting enzyme-1 and endothelin-A-receptor mRNA in rats with interstitial fibrosis following ureter ligation. | Feldman DL, etal., J Cardiovasc Pharmacol. 2000 Nov;36(5 Suppl 1):S255-9. |
| 21. | Ambrisentan for the treatment of pulmonary arterial hypertension: results of the ambrisentan in pulmonary arterial hypertension, randomized, double-blind, placebo-controlled, multicenter, efficacy (ARIES) study 1 and 2. | Galie N, etal., Circulation. 2008 Jun 10;117(23):3010-9. Epub 2008 May 27. |
| 22. | NAADP-induced Ca(2+ signaling in response to endothelin is via the receptor subtype B and requires the integrity of lipid rafts/caveolae. | Gambara G, etal., J Cell Physiol. 2008 Aug;216(2):396-404. |
| 23. | Transgenic expression of the endothelin-B receptor prevents congenital intestinal aganglionosis in a rat model of Hirschsprung disease. | Gariepy CE, etal., J Clin Invest 1998 Sep 15;102(6):1092-101. |
| 24. | Null mutation of endothelin receptor type B gene in spotting lethal rats causes aganglionic megacolon and white coat color. | Gariepy CE, etal., Proc Natl Acad Sci U S A 1996 Jan 23;93(2):867-72. |
| 25. | 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. |
| 26. | Involvement of endothelin-1 and its receptors in PGF2alpha-induced luteolysis in the rat. | Girsh E and Dekel N, Mol Reprod Dev 2002 Sep;63(1):71-8. |
| 27. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
| 28. | Polymorphisms in genes of the endothelin system and cerebral small-vessel disease. | Gormley K, etal., Stroke. 2005 Aug;36(8):1656-60. Epub 2005 Jul 7. |
| 29. | Endothelin A and B receptors are down-regulated in the hearts of hypertensive rats. | Hayzer DJ, etal., Am J Med Sci 1994 Mar;307(3):222-7. |
| 30. | A polymorphism in the endothelin-A receptor gene predicts survival in patients with idiopathic dilated cardiomyopathy. | Herrmann S, etal., Eur Heart J. 2001 Oct;22(20):1948-53. |
| 31. | ETA receptor blockade induces tubular cell proliferation and cyst growth in rats with polycystic kidney disease. | Hocher B, etal., J Am Soc Nephrol. 2003 Feb;14(2):367-76. |
| 32. | Regulation of endothelin-converting enzyme 1 in nephrotic syndrome in rats. | Ikebe M, etal., Nephron Exp Nephrol. 2003;94(4):e137-45. |
| 33. | Dual constrictor and dilator actions of ET(B) receptors in the rat renal microcirculation: interactions with ET(A) receptors. | Just A, etal., Am J Physiol Renal Physiol. 2004 Apr;286(4):F660-8. Epub 2003 Dec 16. |
| 34. | The role of ET(A) and ET(B) receptor antagonists in acute and allergic inflammation in mice. | Kassuya CA, etal., Peptides. 2008 Aug;29(8):1329-37. Epub 2008 Mar 16. |
| 35. | Endothelin-1 induces organ-specific histamine liberation and neutrophil granulocyte accumulation in the rat. | Kaszaki J, etal., Inflamm Res. 2008 Aug;57(8):396-402. |
| 36. | Peripheral mechanisms of erectile dysfunction in a rat model of chronic cocaine use. | Kendirci M, etal., Eur Urol. 2007 Aug;52(2):555-63. Epub 2007 Mar 20. |
| 37. | Cloning and functional expression of a vascular smooth muscle endothelin 1 receptor. | Lin HY, etal., Proc Natl Acad Sci U S A 1991 Apr 15;88(8):3185-9. |
| 38. | Constriction of rat extra-splenic veins to lipopolysaccharide involves endothelin-1. | Mansart A, etal., Naunyn Schmiedebergs Arch Pharmacol. 2010 Jun;381(6):555-62. Epub 2010 Apr 16. |
| 39. | Involvement of NO and MEK/ERK pathway in enhancement of endothelin-1-induced mesenteric artery contraction in later-stage type 2 diabetic Goto-Kakizaki rat. | Matsumoto T, etal., Am J Physiol Heart Circ Physiol. 2009 May;296(5):H1388-97. Epub 2009 Mar 13. |
| 40. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
| 41. | Endothelin-a receptor in rat skeletal muscle microvasculature. | Mitchell D, etal., Microvasc Res. 2002 Jul;64(1):179-85. |
| 42. | Inhibitory effects of PPAR-gamma on endothelin-1-induced inflammatory pathways in vascular smooth muscle cells from normotensive and hypertensive rats. | Montezano AC, etal., J Am Soc Hypertens. 2007 Mar-Apr;1(2):150-60. |
| 43. | Mechanical stretch induced interleukin-18 (IL-18) expression through Angiotensin subtype 1 receptor (AT1R) and endothelin-1 in cardiomyocytes. | Naka T, etal., Prep Biochem Biotechnol. 2008;38(2):201-12. |
| 44. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
| 45. | Polymorphisms of the endothelin-A and -B receptor genes in relation to blood pressure and myocardial infarction: the Etude Cas-Temoins sur l'Infarctus du Myocarde (ECTIM) Study. | Nicaud V, etal., Am J Hypertens. 1999 Mar;12(3):304-10. |
| 46. | Roles of endothelin ETA and ETB receptors in the pathogenesis of monocrotaline-induced pulmonary hypertension. | Nishida M, etal., J Cardiovasc Pharmacol. 2004 Aug;44(2):187-91. |
| 47. | Thrombin-stimulated proliferation is mediated by endothelin-1 in cultured rat gingival fibroblasts. | Ohuchi N, etal., Fundam Clin Pharmacol. 2010 Aug;24(4):501-8. Epub 2009 Oct 30. |
| 48. | Endothelin-1 (ET-1) is increased in rat retina after crushing optic nerve. | Oku H, etal., Curr Eye Res. 2008 Jul;33(7):611-20. |
| 49. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 50. | ET(B) receptor-deficient rats exhibit reduced contraction to ET-1 despite an increase in ET(A) receptors. | Perry MG, etal., Am J Physiol Heart Circ Physiol 2001 Dec;281(6):H2680-6. |
| 51. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 52. | PID Annotation Import Pipeline | Pipeline to import Pathway Interaction Database annotations from NCI into RGD |
| 53. | ETA and ETB receptor function in pancreatitis-associated microcirculatory failure, inflammation, and parenchymal injury. | Plusczyk T, etal., Am J Physiol Gastrointest Liver Physiol. 2003 Jul;285(1):G145-53. |
| 54. | Involvement of central endothelin receptors in neonatal morphine withdrawal. | Puppala BL, etal., Exp Biol Med (Maywood). 2006 Jun;231(6):1157-60. |
| 55. | Role of endothelin (ETA) receptors in neonatal morphine withdrawal. | Puppala BL, etal., Peptides. 2006 Jun;27(6):1514-9. Epub 2005 Nov 15. |
| 56. | Regulation of endothelin-A receptor sensitivity by cyclic adenosine monophosphate in rat hepatic stellate cells. | Reinehr R, etal., Hepatology 2002 Oct;36(4 Pt 1):861-73. |
| 57. | GOA pipeline | RGD automated data pipeline |
| 58. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 59. | Endothelin, PAF and thromboxane A2 in allergic pulmonary hyperreactivity in mice. | Richter M, etal., Prostaglandins Leukot Essent Fatty Acids. 2007 May;76(5):299-308. Epub 2007 Apr 19. |
| 60. | Localization of functional endothelin receptor signaling complexes in cardiac transverse tubules. | Robu VG, etal., J Biol Chem. 2003 Nov 28;278(48):48154-61. Epub 2003 Sep 12. |
| 61. | Tumor endothelin-1 enhances metastatic colonization of the lung in mouse xenograft models of bladder cancer. | Said N, etal., J Clin Invest. 2011 Jan 4;121(1):132-47. doi: 10.1172/JCI42912. Epub 2010 Dec 22. |
| 62. | Endothelin receptor A-specific stimulation of glomerular inflammation and injury in a streptozotocin-induced rat model of diabetes. | Saleh MA, etal., Diabetologia. 2010 Dec 30. |
| 63. | Endothelin-1 increases glomerular permeability and inflammation independent of blood pressure in the rat. | Saleh MA, etal., Hypertension. 2010 Nov;56(5):942-9. Epub 2010 Sep 7. |
| 64. | Effects of endothelin ETA receptor antagonism on granulocyte and lymphocyte accumulation in LPS-induced inflammation. | Sampaio AL, etal., J Leukoc Biol. 2004 Jul;76(1):210-6. Epub 2004 Apr 23. |
| 65. | Effect of YM598, a selective endothelin ETA receptor antagonist, on endothelin-1-induced bone formation. | Someya A, etal., Eur J Pharmacol. 2006 Aug 14;543(1-3):14-20. Epub 2006 Jun 27. |
| 66. | Cooperative effect of angiotensin AT(1) and endothelin ET(A) receptor antagonism limits the brain damage after ischemic stroke in rat. | Stenman E, etal., Eur J Pharmacol. 2007 Sep 10;570(1-3):142-8. Epub 2007 Jun 9. |
| 67. | BMPR2 mutation alters the lung macrophage endothelin-1 cascade in a mouse model and patients with heritable pulmonary artery hypertension. | Talati M, etal., Am J Physiol Lung Cell Mol Physiol. 2010 Sep;299(3):L363-73. Epub 2010 Jun 18. |
| 68. | Role of endogenous endothelin-1 in post-ischemic cardiac dysfunction and norepinephrine overflow in rat hearts. | Tawa M, etal., Eur J Pharmacol. 2008 Sep 4;591(1-3):182-8. Epub 2008 Jun 14. |
| 69. | Tentative Sequence Identification Numbers | Tentative Sequence Data IDs. TIGR Gene Index, Rat Data |
| 70. | Association between migraine and endothelin type A receptor (ETA -231 A/G) gene polymorphism. | Tzourio C, etal., Neurology 2001 May 22;56(10):1273-7. |
| 71. | Early endothelin-A receptor blockade decreases blood pressure and ameliorates end-organ damage in homozygous Ren-2 rats. | Vaneckova I, etal., Hypertension. 2005 Oct;46(4):969-74. Epub 2005 Sep 12. |
| 72. | Ischemic heart disease induces upregulation of endothelin receptor mRNA in human coronary arteries. | Wackenfors A, etal., Eur J Pharmacol. 2004 Jan 19;484(1):103-9. |
| 73. | Endothelin-1 regulates proliferative responses, both alone and synergistically with PDGF, in rat tracheal smooth muscle cells. | Yahiaoui L, etal., Cell Physiol Biochem. 2006;17(1-2):37-46. Epub 2006 Feb 7. |
| 74. | Inhibition of endothelin-1 and hypoxia-induced pulmonary pressor responses in the rat by a novel selective endothelin-A receptor antagonist, di-n-butylaminocarbamyl-L-leucyl-D-tryptophanyl-D-4-chloro-Phe. | Yan LD, etal., J Cardiovasc Pharmacol. 2010 Sep;56(3):246-54. |
| 75. | Role of Endothelin-1/Endothelin-A receptor-mediated signaling pathway in the aortic arch patterning in mice. | Yanagisawa H, etal., J Clin Invest 1998 Jul 1;102(1):22-33. |
| 76. | Endothelin A receptor blockade influences apoptosis and cellular proliferation in the developing rat kidney. | Yoo KH, etal., J Korean Med Sci. 2009 Feb;24(1):138-45. Epub 2009 Feb 28. |
| 77. | Cholesterol dependence of vascular ERK1/2 activation and growth in response to stretch: role of endothelin-1. | Zeidan A, etal., Arterioscler Thromb Vasc Biol. 2003 Sep 1;23(9):1528-34. Epub 2003 Aug 7. |
| 78. | [Effect and mechanism of salvianolic acid B in attenuating elevated portal pressure in a rat model of portal hypertension induced by endothelin-1]. | Zhou Y, etal., Zhong Xi Yi Jie He Xue Bao. 2007 Jan;5(1):61-4. |
Additional References at PubMed
| PMID:1312429 | PMID:8982507 | PMID:9449664 | PMID:9826706 | PMID:10626068 | PMID:11546805 | PMID:11882629 | PMID:11897624 | PMID:11910302 | PMID:12464391 | PMID:12668144 | PMID:12686728 |
| PMID:12851419 | PMID:14993193 | PMID:15306564 | PMID:15327783 | PMID:15344879 | PMID:15563533 | PMID:15585964 | PMID:15664398 | PMID:15668985 | PMID:15838253 | PMID:15838256 | PMID:15838268 |
| PMID:15838271 | PMID:15838315 | PMID:15838319 | PMID:15838321 | PMID:15838330 | PMID:15838346 | PMID:15838359 | PMID:15838360 | PMID:15838361 | PMID:15838363 | PMID:15915003 | PMID:15928212 |
| PMID:16463654 | PMID:16712977 | PMID:16736156 | PMID:16763077 | PMID:16947426 | PMID:17060503 | PMID:17312275 | PMID:17333248 | PMID:17379848 | PMID:17400719 | PMID:17495482 | PMID:17626731 |
| PMID:17639881 | PMID:17670915 | PMID:17892519 | PMID:18205269 | PMID:18281380 | PMID:18287215 | PMID:18424628 | PMID:18462720 | PMID:18469849 | PMID:18515645 | PMID:18518881 | PMID:18524860 |
| PMID:18567602 | PMID:18823320 | PMID:19029977 | PMID:19104001 | PMID:19157542 | PMID:19628575 | PMID:19748906 | PMID:20307649 | PMID:20450830 | PMID:20628427 | PMID:20844020 | PMID:21801590 |
| PMID:21801594 | PMID:21801595 | PMID:22258095 | PMID:22365956 | PMID:22406300 | PMID:22407503 | PMID:22569294 | PMID:22952915 | PMID:23047940 | PMID:23351051 | PMID:23396520 | PMID:23436727 |
| PMID:23946290 | PMID:24144054 | PMID:24157978 | PMID:24449761 | PMID:24486390 | PMID:24582810 | PMID:24636620 | PMID:24815227 | PMID:24918345 | PMID:25088996 | PMID:25091502 | PMID:25255392 |
| PMID:25891848 | PMID:26459423 | PMID:26528589 | PMID:26776836 | PMID:27697218 | PMID:27997891 | PMID:28012855 | PMID:28412414 | PMID:28579512 | PMID:28757442 | PMID:29329779 | PMID:29360807 |
| PMID:31075232 | PMID:31398465 | PMID:32023824 | PMID:33098940 | PMID:33127751 | PMID:33339902 | PMID:34894846 |
Genomics
Comparative Map Data
| Ednra (Rattus norvegicus - Norway rat) |
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| EDNRA (Homo sapiens - human) |
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| Ednra (Mus musculus - house mouse) |
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| Ednra (Chinchilla lanigera - long-tailed chinchilla) |
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| EDNRA (Pan paniscus - bonobo/pygmy chimpanzee) |
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| EDNRA (Canis lupus familiaris - dog) |
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| Ednra (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| EDNRA (Sus scrofa - pig) |
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| EDNRA (Chlorocebus sabaeus - green monkey) |
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| Ednra (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in Ednra
467 total Variants 
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