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Wikipedia

Endothelin receptor type B

January 01, 1970

Endothelin receptor type B, (ET-B) is a protein that in humans is encoded by the EDNRB gene.[5]

EDNRB
Identifiers
AliasesEDNRB, ABCDS, ET-B, ET-BR, ETB, ETBR, ETRB, HSCR, HSCR2, WS4A, ETB1, endothelin receptor type B
External IDsOMIM: 131244 MGI: 102720 HomoloGene: 89 GeneCards: EDNRB
Orthologs
SpeciesHumanMouse
Entrez

1910

13618

Ensembl

ENSG00000136160

ENSMUSG00000022122

UniProt

P24530

P48302

RefSeq (mRNA)

NM_000115
NM_001122659
NM_001201397
NM_003991

NM_001136061
NM_001276296
NM_007904

RefSeq (protein)

NP_000106
NP_001116131
NP_001188326
NP_003982

NP_001129533
NP_001263225
NP_031930

Location (UCSC)Chr 13: 77.9 – 77.98 MbChr 14: 104.05 – 104.08 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function edit

Endothelin receptor type B is a G protein-coupled receptor which activates a phosphatidylinositol-calcium second messenger system. Its ligand, endothelin, consists of a family of three potent vasoactive peptides: ET1, ET2, and ET3. A splice variant, named SVR, has been described; the sequence of the ETB-SVR receptor is identical to ETRB except for the intracellular C-terminal domain. While both splice variants bind ET1, they exhibit different responses upon binding which suggests that they may be functionally distinct.[6]

Regulation edit

In melanocytic cells the EDNRB gene is regulated by the microphthalmia-associated transcription factor. Mutations in either gene are links to Waardenburg syndrome.[7][8]

Clinical significance edit

The multigenic disorder, Hirschsprung disease type 2, is due to mutation in endothelin receptor type B gene.[9]

Animals edit

In horses, a mutation in the middle of the EDNRB gene, Ile118Lys, when homozygous, causes Lethal White Syndrome.[10] In this mutation, a mismatch in the DNA replication causes lysine to be made instead of isoleucine.[10] The resulting EDNRB protein is unable to fulfill its role in the development of the embryo, limiting the migration of the melanocyte and enteric neuron precursors. A single copy of the EDNRB mutation, the heterozygous state, produces an identifiable and completely benign spotted coat color called frame overo.[11]

Interactions edit

Endothelin receptor type B has been shown to interact with Caveolin 1.[12]

Ligands edit

Agonists
Antagonists
  • A-192,621
  • BQ-788
  • Bosentan (unselective ETA / ETB antagonist)

See also edit

References edit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000136160 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022122 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Cyr C, Huebner K, Druck T, Kris R (Nov 1991). "Cloning and chromosomal localization of a human endothelin ETA receptor". Biochemical and Biophysical Research Communications. 181 (1): 184–90. doi:10.1016/S0006-291X(05)81399-3. PMID 1659806.
  6. ^ "Entrez Gene: EDNRB endothelin receptor type B".
  7. ^ Sato-Jin K, Nishimura EK, Akasaka E, Huber W, Nakano H, Miller A, Du J, Wu M, Hanada K, Sawamura D, Fisher DE, Imokawa G (Apr 2008). "Epistatic connections between microphthalmia-associated transcription factor and endothelin signaling in Waardenburg syndrome and other pigmentary disorders". FASEB Journal. 22 (4): 1155–68. doi:10.1096/fj.07-9080com. PMID 18039926. S2CID 14304386.
  8. ^ Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, Valgeirsdottir S, Bergsteinsdottir K, Schepsky A, Dummer R, Steingrimsson E (Dec 2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell & Melanoma Research. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971.
  9. ^ Tanaka H, Moroi K, Iwai J, Takahashi H, Ohnuma N, Hori S, Takimoto M, Nishiyama M, Masaki T, Yanagisawa M, Sekiya S, Kimura S (May 1998). "Novel mutations of the endothelin B receptor gene in patients with Hirschsprung's disease and their characterization". The Journal of Biological Chemistry. 273 (18): 11378–83. doi:10.1074/jbc.273.18.11378. PMID 9556633.
  10. ^ a b Yang GC, Croaker D, Zhang AL, Manglick P, Cartmill T, Cass D (Jun 1998). "A dinucleotide mutation in the endothelin-B receptor gene is associated with lethal white foal syndrome (LWFS); a horse variant of Hirschsprung disease". Human Molecular Genetics. 7 (6): 1047–52. doi:10.1093/hmg/7.6.1047. PMID 9580670. AG mutation, which changed isoleucine to lysine in the predicted first transmembrane domain of the EDNRB protein. This was associated with LWFS when homozygous and with the overo phenotype when heterozygous. -->
  11. ^ Metallinos DL, Bowling AT, Rine J (1998). "A missense mutation in the endothelin-B receptor gene is associated with Lethal White Foal Syndrome: an equine version of Hirschsprung disease". Mamm. Genome. 9 (6): 426–31. doi:10.1007/s003359900790. PMID 9585428. S2CID 19536624.
  12. ^ Yamaguchi T, Murata Y, Fujiyoshi Y, Doi T (Apr 2003). "Regulated interaction of endothelin B receptor with caveolin-1". European Journal of Biochemistry. 270 (8): 1816–27. doi:10.1046/j.1432-1033.2003.03544.x. PMID 12694195.
  13. ^ Maguire JJ, Davenport AP (Dec 2014). "Endothelin@25 - new agonists, antagonists, inhibitors and emerging research frontiers: IUPHAR Review 12". British Journal of Pharmacology. 171 (24): 5555–72. doi:10.1111/bph.12874. PMC 4290702. PMID 25131455.

Further reading edit

  • Hofstra RM, Osinga J, Buys CH (1998). "Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype". European Journal of Human Genetics. 5 (4): 180–5. doi:10.1159/000484760. PMID 9359036.
  • Haendler B, Hechler U, Schleuning WD (1993). "Molecular cloning of human endothelin (ET) receptors ETA and ETB". Journal of Cardiovascular Pharmacology. 20 (Suppl 12): S1–4. doi:10.1097/00005344-199204002-00002. PMID 1282938. S2CID 37973815.
  • Arai H, Nakao K, Hosoda K, Ogawa Y, Nakagawa O, Komatsu Y, Imura H (1993). "[Molecular cloning of human endothelin receptors and their expression in vascular endothelial cells and smooth muscle cells]". Japanese Circulation Journal. 56 (Suppl 5): 1303–7. doi:10.1253/jcj.56.supplementv_1303. PMID 1291713.
  • Ogawa Y, Nakao K, Arai H, Nakagawa O, Hosoda K, Suga S, Nakanishi S, Imura H (Jul 1991). "Molecular cloning of a non-isopeptide-selective human endothelin receptor". Biochemical and Biophysical Research Communications. 178 (1): 248–55. doi:10.1016/0006-291X(91)91806-N. PMID 1648908.
  • Cyr C, Huebner K, Druck T, Kris R (Nov 1991). "Cloning and chromosomal localization of a human endothelin ETA receptor". Biochemical and Biophysical Research Communications. 181 (1): 184–90. doi:10.1016/S0006-291X(05)81399-3. PMID 1659806.
  • Nakamuta M, Takayanagi R, Sakai Y, Sakamoto S, Hagiwara H, Mizuno T, Saito Y, Hirose S, Yamamoto M, Nawata H (May 1991). "Cloning and sequence analysis of a cDNA encoding human non-selective type of endothelin receptor". Biochemical and Biophysical Research Communications. 177 (1): 34–9. doi:10.1016/0006-291X(91)91944-8. PMID 1710450.
  • Sakamoto A, Yanagisawa M, Sakurai T, Takuwa Y, Yanagisawa H, Masaki T (Jul 1991). "Cloning and functional expression of human cDNA for the ETB endothelin receptor". Biochemical and Biophysical Research Communications. 178 (2): 656–63. doi:10.1016/0006-291X(91)90158-4. PMID 1713452.
  • Vane J (1991). "Endothelins come home to roost". Nature. 348 (6303): 673. doi:10.1038/348673a0. PMID 2175394. S2CID 4351182.
  • Puffenberger EG, Kauffman ER, Bolk S, Matise TC, Washington SS, Angrist M, Weissenbach J, Garver KL, Mascari M, Ladda R (Aug 1994). "Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22". Human Molecular Genetics. 3 (8): 1217–25. doi:10.1093/hmg/3.8.1217. PMID 7987295.
  • Puffenberger EG, Hosoda K, Washington SS, Nakao K, deWit D, Yanagisawa M, Chakravart A (Dec 1994). "A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease". Cell. 79 (7): 1257–66. doi:10.1016/0092-8674(94)90016-7. PMID 8001158. S2CID 24894649.
  • Baynash AG, Hosoda K, Giaid A, Richardson JA, Emoto N, Hammer RE, Yanagisawa M (Dec 1994). "Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons". Cell. 79 (7): 1277–85. doi:10.1016/0092-8674(94)90018-3. PMID 8001160. S2CID 32577813.
  • Arai H, Nakao K, Takaya K, Hosoda K, Ogawa Y, Nakanishi S, Imura H (Feb 1993). "The human endothelin-B receptor gene. Structural organization and chromosomal assignment". The Journal of Biological Chemistry. 268 (5): 3463–70. doi:10.1016/S0021-9258(18)53717-0. PMID 8429023.
  • Elshourbagy NA, Korman DR, Wu HL, Sylvester DR, Lee JA, Nuthalaganti P, Bergsma DJ, Kumar CS, Nambi P (Feb 1993). "Molecular characterization and regulation of the human endothelin receptors". The Journal of Biological Chemistry. 268 (6): 3873–9. doi:10.1016/S0021-9258(18)53554-7. PMID 8440682.
  • Hofstra RM, Osinga J, Tan-Sindhunata G, Wu Y, Kamsteeg EJ, Stulp RP, van Ravenswaaij-Arts C, Majoor-Krakauer D, Angrist M, Chakravarti A, Meijers C, Buys CH (Apr 1996). "A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)". Nature Genetics. 12 (4): 445–7. doi:10.1038/ng0496-445. hdl:1765/54507. PMID 8630503. S2CID 935271.
  • Attié T, Till M, Pelet A, Amiel J, Edery P, Boutrand L, Munnich A, Lyonnet S (Dec 1995). "Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease". Human Molecular Genetics. 4 (12): 2407–9. doi:10.1093/hmg/4.12.2407. PMID 8634719.
  • Elshourbagy NA, Adamou JE, Gagnon AW, Wu HL, Pullen M, Nambi P (Oct 1996). "Molecular characterization of a novel human endothelin receptor splice variant". The Journal of Biological Chemistry. 271 (41): 25300–7. doi:10.1074/jbc.271.41.25300. PMID 8810293.
  • Kusafuka T, Wang Y, Puri P (Mar 1996). "Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease". Human Molecular Genetics. 5 (3): 347–9. doi:10.1093/hmg/5.3.347. PMID 8852658.
  • Auricchio A, Casari G, Staiano A, Ballabio A (Mar 1996). "Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population". Human Molecular Genetics. 5 (3): 351–4. doi:10.1093/hmg/5.3.351. PMID 8852659.
  • 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 (Mar 1996). "Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease". Human Molecular Genetics. 5 (3): 355–7. doi:10.1093/hmg/5.3.355. PMID 8852660.
  • Freedman NJ, Ament AS, Oppermann M, Stoffel RH, Exum ST, Lefkowitz RJ (Jul 1997). "Phosphorylation and desensitization of human endothelin A and B receptors. Evidence for G protein-coupled receptor kinase specificity". The Journal of Biological Chemistry. 272 (28): 17734–43. doi:10.1074/jbc.272.28.17734. PMID 9211925.
  • Mazzuca MQ, Khalil RA (Jul 2012). "Vascular endothelin receptor type B: structure, function and dysregulation in vascular disease". Biochemical Pharmacology. 84 (2): 147–62. doi:10.1016/j.bcp.2012.03.020. PMC 3358417. PMID 22484314.
  • Davenport AP, Hyndman KA, Dhaun N, Southan C, Kohan DE, Pollock JS, Pollock DM, Webb DJ, Maguire JJ (April 2016). "Endothelin". Pharmacological Reviews. 68 (2): 357–418. doi:10.1124/pr.115.011833. PMC 4815360. PMID 26956245.

External links edit

  • "Endothelin Receptors: ETB". IUPHAR Database of Receptors and Ion Channels. International Union of Basic and Clinical Pharmacology.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


January 01, 1970
endothelin, receptor, type, protein, that, humans, encoded, ednrb, gene, ednrbidentifiersaliasesednrb, abcds, etbr, etrb, hscr, hscr2, ws4a, etb1, endothelin, receptor, type, bexternal, idsomim, 131244, 102720, homologene, genecards, ednrbgene, location, human. Endothelin receptor type B ET B is a protein that in humans is encoded by the EDNRB gene 5 EDNRBIdentifiersAliasesEDNRB ABCDS ET B ET BR ETB ETBR ETRB HSCR HSCR2 WS4A ETB1 endothelin receptor type BExternal IDsOMIM 131244 MGI 102720 HomoloGene 89 GeneCards EDNRBGene location Human Chr Chromosome 13 human 1 Band13q22 3Start77 895 481 bp 1 End77 975 529 bp 1 Gene location Mouse Chr Chromosome 14 mouse 2 Band14 E2 3 14 53 05 cMStart104 052 061 bp 2 End104 081 838 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inparotid glandexternal globus palliduslower lobe of lungsuperior vestibular nucleusspinal gangliainternal globus pallidusright lungplacentapericardiumtrigeminal ganglionTop expressed inirispineal glandglobus pallidusatriumleft lung lobeciliary bodyparaventricular nucleus of hypothalamusexternal carotid arterycerebellar vermislateral hypothalamusMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionendothelin receptor activity G protein coupled receptor activity signal transducer activity peptide hormone binding protein binding type 1 angiotensin receptor bindingCellular componentintegral component of membrane nuclear membrane membrane integral component of plasma membrane membrane raft plasma membraneBiological processenteric smooth muscle cell differentiation negative regulation of adenylate cyclase activity positive regulation of protein phosphorylation peripheral nervous system development positive regulation of renal sodium excretion response to organic cyclic compound regulation of sensory perception of pain positive regulation of urine volume vasoconstriction positive regulation of cytosolic calcium ion concentration epithelial fluid transport human ageing vasodilation negative regulation of apoptotic process negative regulation of transcription by RNA polymerase II cGMP mediated signaling regulation of fever generation nervous system development regulation of blood pressure phospholipase C activating G protein coupled receptor signaling pathway cell surface receptor signaling pathway enteric nervous system development vein smooth muscle contraction response to lipopolysaccharide macrophage chemotaxis response to pain neural crest cell migration positive regulation of cell population proliferation posterior midgut development developmental pigmentation pigmentation sensory perception of pain negative regulation of neuron maturation positive regulation of penile erection regulation of epithelial cell proliferation melanocyte differentiation cellular response to lipopolysaccharide regulation of pH signal transduction endothelin receptor signaling pathway calcium mediated signaling G protein coupled receptor signaling pathway response to endothelinSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez191013618EnsemblENSG00000136160ENSMUSG00000022122UniProtP24530P48302RefSeq mRNA NM 000115NM 001122659NM 001201397NM 003991NM 001136061NM 001276296NM 007904RefSeq protein NP 000106NP 001116131NP 001188326NP 003982NP 001129533NP 001263225NP 031930Location UCSC Chr 13 77 9 77 98 MbChr 14 104 05 104 08 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 Regulation 3 Clinical significance 4 Animals 5 Interactions 6 Ligands 7 See also 8 References 9 Further reading 10 External linksFunction editEndothelin receptor type B is a G protein coupled receptor which activates a phosphatidylinositol calcium second messenger system Its ligand endothelin consists of a family of three potent vasoactive peptides ET1 ET2 and ET3 A splice variant named SVR has been described the sequence of the ETB SVR receptor is identical to ETRB except for the intracellular C terminal domain While both splice variants bind ET1 they exhibit different responses upon binding which suggests that they may be functionally distinct 6 Regulation editIn melanocytic cells the EDNRB gene is regulated by the microphthalmia associated transcription factor Mutations in either gene are links to Waardenburg syndrome 7 8 Clinical significance editThe multigenic disorder Hirschsprung disease type 2 is due to mutation in endothelin receptor type B gene 9 Animals editIn horses a mutation in the middle of the EDNRB gene Ile118Lys when homozygous causes Lethal White Syndrome 10 In this mutation a mismatch in the DNA replication causes lysine to be made instead of isoleucine 10 The resulting EDNRB protein is unable to fulfill its role in the development of the embryo limiting the migration of the melanocyte and enteric neuron precursors A single copy of the EDNRB mutation the heterozygous state produces an identifiable and completely benign spotted coat color called frame overo 11 Interactions editEndothelin receptor type B has been shown to interact with Caveolin 1 12 Ligands editAgonists IRL 1620 13 Antagonists A 192 621 BQ 788 Bosentan unselective ETA ETB antagonist See also editEndothelin receptorReferences edit a b c GRCh38 Ensembl release 89 ENSG00000136160 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000022122 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Cyr C Huebner K Druck T Kris R Nov 1991 Cloning and chromosomal localization of a human endothelin ETA receptor Biochemical and Biophysical Research Communications 181 1 184 90 doi 10 1016 S0006 291X 05 81399 3 PMID 1659806 Entrez Gene EDNRB endothelin receptor type B Sato Jin K Nishimura EK Akasaka E Huber W Nakano H Miller A Du J Wu M Hanada K Sawamura D Fisher DE Imokawa G Apr 2008 Epistatic connections between microphthalmia associated transcription factor and endothelin signaling in Waardenburg syndrome and other pigmentary disorders FASEB Journal 22 4 1155 68 doi 10 1096 fj 07 9080com PMID 18039926 S2CID 14304386 Hoek KS Schlegel NC Eichhoff OM Widmer DS Praetorius C Einarsson SO Valgeirsdottir S Bergsteinsdottir K Schepsky A Dummer R Steingrimsson E Dec 2008 Novel MITF targets identified using a two step DNA microarray strategy Pigment Cell amp Melanoma Research 21 6 665 76 doi 10 1111 j 1755 148X 2008 00505 x PMID 19067971 Tanaka H Moroi K Iwai J Takahashi H Ohnuma N Hori S Takimoto M Nishiyama M Masaki T Yanagisawa M Sekiya S Kimura S May 1998 Novel mutations of the endothelin B receptor gene in patients with Hirschsprung s disease and their characterization The Journal of Biological Chemistry 273 18 11378 83 doi 10 1074 jbc 273 18 11378 PMID 9556633 a b Yang GC Croaker D Zhang AL Manglick P Cartmill T Cass D Jun 1998 A dinucleotide mutation in the endothelin B receptor gene is associated with lethal white foal syndrome LWFS a horse variant of Hirschsprung disease Human Molecular Genetics 7 6 1047 52 doi 10 1093 hmg 7 6 1047 PMID 9580670 AG mutation which changed isoleucine to lysine in the predicted first transmembrane domain of the EDNRB protein This was associated with LWFS when homozygous and with the overo phenotype when heterozygous gt Metallinos DL Bowling AT Rine J 1998 A missense mutation in the endothelin B receptor gene is associated with Lethal White Foal Syndrome an equine version of Hirschsprung disease Mamm Genome 9 6 426 31 doi 10 1007 s003359900790 PMID 9585428 S2CID 19536624 Yamaguchi T Murata Y Fujiyoshi Y Doi T Apr 2003 Regulated interaction of endothelin B receptor with caveolin 1 European Journal of Biochemistry 270 8 1816 27 doi 10 1046 j 1432 1033 2003 03544 x PMID 12694195 Maguire JJ Davenport AP Dec 2014 Endothelin 25 new agonists antagonists inhibitors and emerging research frontiers IUPHAR Review 12 British Journal of Pharmacology 171 24 5555 72 doi 10 1111 bph 12874 PMC 4290702 PMID 25131455 Further reading editHofstra RM Osinga J Buys CH 1998 Mutations in Hirschsprung disease when does a mutation contribute to the phenotype European Journal of Human Genetics 5 4 180 5 doi 10 1159 000484760 PMID 9359036 Haendler B Hechler U Schleuning WD 1993 Molecular cloning of human endothelin ET receptors ETA and ETB Journal of Cardiovascular Pharmacology 20 Suppl 12 S1 4 doi 10 1097 00005344 199204002 00002 PMID 1282938 S2CID 37973815 Arai H Nakao K Hosoda K Ogawa Y Nakagawa O Komatsu Y Imura H 1993 Molecular cloning of human endothelin receptors and their expression in vascular endothelial cells and smooth muscle cells Japanese Circulation Journal 56 Suppl 5 1303 7 doi 10 1253 jcj 56 supplementv 1303 PMID 1291713 Ogawa Y Nakao K Arai H Nakagawa O Hosoda K Suga S Nakanishi S Imura H Jul 1991 Molecular cloning of a non isopeptide selective human endothelin receptor Biochemical and Biophysical Research Communications 178 1 248 55 doi 10 1016 0006 291X 91 91806 N PMID 1648908 Cyr C Huebner K Druck T Kris R Nov 1991 Cloning and chromosomal localization of a human endothelin ETA receptor Biochemical and Biophysical Research Communications 181 1 184 90 doi 10 1016 S0006 291X 05 81399 3 PMID 1659806 Nakamuta M Takayanagi R Sakai Y Sakamoto S Hagiwara H Mizuno T Saito Y Hirose S Yamamoto M Nawata H May 1991 Cloning and sequence analysis of a cDNA encoding human non selective type of endothelin receptor Biochemical and Biophysical Research Communications 177 1 34 9 doi 10 1016 0006 291X 91 91944 8 PMID 1710450 Sakamoto A Yanagisawa M Sakurai T Takuwa Y Yanagisawa H Masaki T Jul 1991 Cloning and functional expression of human cDNA for the ETB endothelin receptor Biochemical and Biophysical Research Communications 178 2 656 63 doi 10 1016 0006 291X 91 90158 4 PMID 1713452 Vane J 1991 Endothelins come home to roost Nature 348 6303 673 doi 10 1038 348673a0 PMID 2175394 S2CID 4351182 Puffenberger EG Kauffman ER Bolk S Matise TC Washington SS Angrist M Weissenbach J Garver KL Mascari M Ladda R Aug 1994 Identity by descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22 Human Molecular Genetics 3 8 1217 25 doi 10 1093 hmg 3 8 1217 PMID 7987295 Puffenberger EG Hosoda K Washington SS Nakao K deWit D Yanagisawa M Chakravart A Dec 1994 A missense mutation of the endothelin B receptor gene in multigenic Hirschsprung s disease Cell 79 7 1257 66 doi 10 1016 0092 8674 94 90016 7 PMID 8001158 S2CID 24894649 Baynash AG Hosoda K Giaid A Richardson JA Emoto N Hammer RE Yanagisawa M Dec 1994 Interaction of endothelin 3 with endothelin B receptor is essential for development of epidermal melanocytes and enteric neurons Cell 79 7 1277 85 doi 10 1016 0092 8674 94 90018 3 PMID 8001160 S2CID 32577813 Arai H Nakao K Takaya K Hosoda K Ogawa Y Nakanishi S Imura H Feb 1993 The human endothelin B receptor gene Structural organization and chromosomal assignment The Journal of Biological Chemistry 268 5 3463 70 doi 10 1016 S0021 9258 18 53717 0 PMID 8429023 Elshourbagy NA Korman DR Wu HL Sylvester DR Lee JA Nuthalaganti P Bergsma DJ Kumar CS Nambi P Feb 1993 Molecular characterization and regulation of the human endothelin receptors The Journal of Biological Chemistry 268 6 3873 9 doi 10 1016 S0021 9258 18 53554 7 PMID 8440682 Hofstra RM Osinga J Tan Sindhunata G Wu Y Kamsteeg EJ Stulp RP van Ravenswaaij Arts C Majoor Krakauer D Angrist M Chakravarti A Meijers C Buys CH Apr 1996 A homozygous mutation in the endothelin 3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype Shah Waardenburg syndrome Nature Genetics 12 4 445 7 doi 10 1038 ng0496 445 hdl 1765 54507 PMID 8630503 S2CID 935271 Attie T Till M Pelet A Amiel J Edery P Boutrand L Munnich A Lyonnet S Dec 1995 Mutation of the endothelin receptor B gene in Waardenburg Hirschsprung disease Human Molecular Genetics 4 12 2407 9 doi 10 1093 hmg 4 12 2407 PMID 8634719 Elshourbagy NA Adamou JE Gagnon AW Wu HL Pullen M Nambi P Oct 1996 Molecular characterization of a novel human endothelin receptor splice variant The Journal of Biological Chemistry 271 41 25300 7 doi 10 1074 jbc 271 41 25300 PMID 8810293 Kusafuka T Wang Y Puri P Mar 1996 Novel mutations of the endothelin B receptor gene in isolated patients with Hirschsprung s disease Human Molecular Genetics 5 3 347 9 doi 10 1093 hmg 5 3 347 PMID 8852658 Auricchio A Casari G Staiano A Ballabio A Mar 1996 Endothelin B receptor mutations in patients with isolated Hirschsprung disease from a non inbred population Human Molecular Genetics 5 3 351 4 doi 10 1093 hmg 5 3 351 PMID 8852659 Amiel J Attie T Jan D Pelet A Edery P Bidaud C Lacombe D Tam P Simeoni J Flori E Nihoul Fekete C Munnich A Lyonnet S Mar 1996 Heterozygous endothelin receptor B EDNRB mutations in isolated Hirschsprung disease Human Molecular Genetics 5 3 355 7 doi 10 1093 hmg 5 3 355 PMID 8852660 Freedman NJ Ament AS Oppermann M Stoffel RH Exum ST Lefkowitz RJ Jul 1997 Phosphorylation and desensitization of human endothelin A and B receptors Evidence for G protein coupled receptor kinase specificity The Journal of Biological Chemistry 272 28 17734 43 doi 10 1074 jbc 272 28 17734 PMID 9211925 Mazzuca MQ Khalil RA Jul 2012 Vascular endothelin receptor type B structure function and dysregulation in vascular disease Biochemical Pharmacology 84 2 147 62 doi 10 1016 j bcp 2012 03 020 PMC 3358417 PMID 22484314 Davenport AP Hyndman KA Dhaun N Southan C Kohan DE Pollock JS Pollock DM Webb DJ Maguire JJ April 2016 Endothelin Pharmacological Reviews 68 2 357 418 doi 10 1124 pr 115 011833 PMC 4815360 PMID 26956245 External links edit Endothelin Receptors ETB IUPHAR Database of Receptors and Ion Channels International Union of Basic and Clinical Pharmacology This article incorporates text from the United States National Library of Medicine which is in the public domain Retrieved from https en wikipedia org w index php title Endothelin receptor type B amp oldid 1215890165, wikipedia, wiki, book, books, library,

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