Gene Review:
EDNRB - endothelin receptor type B
Homo sapiens
Synonyms:
ABCDS, ET-B, ET-BR, ETB, ETBR, ...
- Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease. Amiel, J., Attié, T., Jan, D., Pelet, A., Edery, P., Bidaud, C., Lacombe, D., Tam, P., Simeoni, J., Flori, E., Nihoul-Fékété, C., Munnich, A., Lyonnet, S. Hum. Mol. Genet. (1996)
- Methylation of the 5' CpG island of the endothelin B receptor gene is common in human prostate cancer. Nelson, J.B., Lee, W.H., Nguyen, S.H., Jarrard, D.F., Brooks, J.D., Magnuson, S.R., Opgenorth, T.J., Nelson, W.G., Bova, G.S. Cancer Res. (1997)
- Downregulation of endothelin B receptor in human melanoma cell lines parallel to differentiation genes. Eberle, J., Weitmann, S., Thieck, O., Pech, H., Paul, M., Orfanos, C.E. J. Invest. Dermatol. (1999)
- Significance of novel endothelin-B receptor gene polymorphisms in Hirschsprung's disease: predominance of a novel variant (561C/T) in patients with co-existing Down's syndrome. Zaahl, M.G., du Plessis, L., Warnich, L., Kotze, M.J., Moore, S.W. Mol. Cell. Probes (2003)
- Endothelin B receptor gene hypermethylation in prostate adenocarcinoma. Jerónimo, C., Henrique, R., Campos, P.F., Oliveira, J., Caballero, O.L., Lopes, C., Sidransky, D. J. Clin. Pathol. (2003)
- Reduced endothelin converting enzyme-1 and endothelin-3 mRNA in the developing bowel of male mice may increase expressivity and penetrance of Hirschsprung disease-like distal intestinal aganglionosis. Vohra, B.P., Planer, W., Armon, J., Fu, M., Jain, S., Heuckeroth, R.O. Dev. Dyn. (2007)
- A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Puffenberger, E.G., Hosoda, K., Washington, S.S., Nakao, K., deWit, D., Yanagisawa, M., Chakravart, A. Cell (1994)
- Endothelin-1 is synthesized and inhibits cyclic adenosine monophosphate- dependent anion secretion by an autocrine/paracrine mechanism in gallbladder epithelial cells. Fouassier, L., Chinet, T., Robert, B., Carayon, A., Balladur, P., Mergey, M., Paul, A., Poupon, R., Capeau, J., Barbu, V., Housset, C. J. Clin. Invest. (1998)
- Growth inhibitory properties of endothelin-1 in activated human hepatic stellate cells: a cyclic adenosine monophosphate-mediated pathway. Inhibition of both extracellular signal-regulated kinase and c-Jun kinase and upregulation of endothelin B receptors. Mallat, A., Préaux, A.M., Serradeil-Le Gal, C., Raufaste, D., Gallois, C., Brenner, D.A., Bradham, C., Maclouf, J., Iourgenko, V., Fouassier, L., Dhumeaux, D., Mavier, P., Lotersztajn, S. J. Clin. Invest. (1996)
- Endothelin-1 and its receptors A and B in human aldosterone-producing adenomas. Rossi, G., Belloni, A.S., Albertin, G., Zanin, L., Biasolo, M.A., Nussdorfer, G.G., Palù, G., Pessina, A.C. Hypertension (1995)
- Endothelin receptor antagonists in a beagle model of pulmonary hypertension: contribution to possible potential therapy? Okada, M., Yamashita, C., Okada, M., Okada, K. J. Am. Coll. Cardiol. (1995)
- Endothelin receptor antagonists. Motte, S., McEntee, K., Naeije, R. Pharmacol. Ther. (2006)
- Endothelin A receptor blockade does not alter PSA secretion in prostate cancer cell lines. Pecher, S., Pflug, B.R., Brink, A.K., Nelson, J.B. Prostate (2004)
- Cloning and characterization of a novel endothelin receptor subtype in the avian class. Lecoin, L., Sakurai, T., Ngo, M.T., Abe, Y., Yanagisawa, M., Le Douarin, N.M. Proc. Natl. Acad. Sci. U.S.A. (1998)
- Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population. Auricchio, A., Casari, G., Staiano, A., Ballabio, A. Hum. Mol. Genet. (1996)
- A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome). Brooks, A.S., Breuning, M.H., Osinga, J., vd Smagt, J.J., Catsman, C.E., Buys, C.H., Meijers, C., Hofstra, R.M. J. Med. Genet. (1999)
- Highly recurrent RET mutations and novel mutations in genes of the receptor tyrosine kinase and endothelin receptor B pathways in Chinese patients with sporadic Hirschsprung disease. Garcia-Barceló, M., Sham, M.H., Lee, W.S., Lui, V.C., Chen, B.L., Wong, K.K., Wong, J.S., Tam, P.K. Clin. Chem. (2004)
- Molecular basis of congenital hypopigmentary disorders in humans: a review. Boissy, R.E., Nordlund, J.J. Pigment Cell Res. (1997)
- Mutation analysis of the RET, the endothelin-B receptor, and the endothelin-3 genes in sporadic cases of Hirschsprung's disease. Kusafuka, T., Wang, Y., Puri, P. J. Pediatr. Surg. (1997)
- SOX10, in combination with Sp1, regulates the endothelin receptor type B gene in human melanocyte lineage cells. Yokoyama, S., Takeda, K., Shibahara, S. FEBS J. (2006)
- A De Novo novel mutation of the EDNRB gene in a Taiwanese boy with Hirschsprung disease. Chen, W.C., Chang, S.S., Sy, E.D., Tsai, M.C. J. Formos. Med. Assoc. (2006)
- Both ETA and ETB receptors mediate contraction to endothelin-1 in human blood vessels. Seo, B., Oemar, B.S., Siebenmann, R., von Segesser, L., Lüscher, T.F. Circulation (1994)
- Endothelin ETA and ETB receptors cause vasoconstriction of human resistance and capacitance vessels in vivo. Haynes, W.G., Strachan, F.E., Webb, D.J. Circulation (1995)
- Aspartate mutation distinguishes ETA but not ETB receptor subtype-selective ligand binding while abolishing phospholipase C activation in both receptors. Rose, P.M., Krystek, S.R., Patel, P.S., Liu, E.C., Lynch, J.S., Lach, D.A., Fisher, S.M., Webb, M.L. FEBS Lett. (1995)
- Growth inhibitory properties of endothelin-1 in human hepatic myofibroblastic Ito cells. An endothelin B receptor-mediated pathway. Mallat, A., Fouassier, L., Préaux, A.M., Gal, C.S., Raufaste, D., Rosenbaum, J., Dhumeaux, D., Jouneaux, C., Mavier, P., Lotersztajn, S. J. Clin. Invest. (1995)
- The endothelin receptor B (EDNRB) promoter displays heterogeneous, site specific methylation patterns in normal and tumor cells. Pao, M.M., Tsutsumi, M., Liang, G., Uzvolgyi, E., Gonzales, F.A., Jones, P.A. Hum. Mol. Genet. (2001)
- Molecular and functional characterization of the non-isopeptide-selective ETB receptor in endothelial cells. Receptor coupling to nitric oxide synthase. Tsukahara, H., Ende, H., Magazine, H.I., Bahou, W.F., Goligorsky, M.S. J. Biol. Chem. (1994)
- Structural basis of G protein specificity of human endothelin receptors. A study with endothelinA/B chimeras. Takagi, Y., Ninomiya, H., Sakamoto, A., Miwa, S., Masaki, T. J. Biol. Chem. (1995)
- Expression and biological effects of endothelin-1 in human gonadotropin-releasing hormone-secreting neurons. Maggi, M., Barni, T., Fantoni, G., Mancina, R., Pupilli, C., Luconi, M., Crescioli, C., Serio, M., Vannelli, G.B. J. Clin. Endocrinol. Metab. (2000)
- Role of endothelin-1 in the migration of human olfactory gonadotropin-releasing hormone-secreting neuroblasts. Romanelli, R.G., Barni, T., Maggi, M., Luconi, M., Failli, P., Pezzatini, A., Morelli, A., Maggi, R., Zaninetti, R., Salerno, R., Ambrosini, S., Marini, M., Rotella, C.M., Vannelli, G.B. Endocrinology (2005)
- Polymorphism in endothelin-related genes limits exercise-induced decreases in arterial stiffness in older subjects. Iemitsu, M., Maeda, S., Otsuki, T., Sugawara, J., Tanabe, T., Jesmin, S., Kuno, S., Ajisaka, R., Miyauchi, T., Matsuda, M. Hypertension (2006)
- Gene expression, localization, and characterization of endothelin A and B receptors in the human adrenal cortex. Rossi, G., Albertin, G., Belloni, A., Zanin, L., Biasolo, M.A., Prayer-Galetti, T., Bader, M., Nussdorfer, G.G., Palù, G., Pessina, A.C. J. Clin. Invest. (1994)
- Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain. Touraine, R.L., Attié-Bitach, T., Manceau, E., Korsch, E., Sarda, P., Pingault, V., Encha-Razavi, F., Pelet, A., Augé, J., Nivelon-Chevallier, A., Holschneider, A.M., Munnes, M., Doerfler, W., Goossens, M., Munnich, A., Vekemans, M., Lyonnet, S. Am. J. Hum. Genet. (2000)
- Functional Difference of the SOX10 Mutant Proteins Responsible for the Phenotypic Variability in Auditory-Pigmentary Disorders. Yokoyama, S., Takeda, K., Shibahara, S. J. Biochem. (2006)
- Novel endothelin B receptor transcripts with the potential of generating a new receptor. Tsutsumi, M., Liang, G., Jones, P.A. Gene (1999)
- Clinical relationship between EDN-3 gene, EDNRB gene and Hirschsprung's disease. Duan, X.L., Zhang, X.S., Li, G.W. World J. Gastroenterol. (2003)
- Endothelin-1 production and decreased endothelin B receptor expression in advanced prostate cancer. Nelson, J.B., Chan-Tack, K., Hedican, S.P., Magnuson, S.R., Opgenorth, T.J., Bova, G.S., Simons, J.W. Cancer Res. (1996)
- Endothelin receptor expression in human lungs of newborns with congenital diaphragmatic hernia. de Lagausie, P., de Buys-Roessingh, A., Ferkdadji, L., Saada, J., Aisenfisz, S., Martinez-Vinson, C., Fund, X., Cayuela, J.M., Peuchmaur, M., Mercier, J.C., Berrebi, D. J. Pathol. (2005)