Clinical variability of Waardenburg-Shah syndrome in patients with proximal 13q deletion syndrome including the endothelin-B receptor locus

2009 ◽  
Vol 149A (10) ◽  
pp. 2290-2295 ◽  
Author(s):  
Beyhan Tüysüz ◽  
Anna Collin ◽  
Müjde Arapoğlu ◽  
Nezir Suyugül
Keyword(s):  
Deletion Syndrome ◽  
Endothelin B Receptor ◽  
Clinical Variability ◽  
Receptor Locus ◽  
Endothelin B ◽  
13Q Deletion

An Improved Procedure for the Preparation of the Endothelin-B-Receptor Ligand Sarafotoxin 6c

2000 ◽  
Vol 36 (Supplement 1) ◽  
pp. S290-S291 ◽  
Author(s):  
Chantal Langlois ◽  
Sophie Tessier ◽  
Alexandre Brkovic ◽  
Alain Fournier
Keyword(s):  
Receptor Ligand ◽  
Endothelin B Receptor ◽  
Endothelin B

ALTERATIONS IN ENDOTHELIN B RECEPTOR SITES IN CAVERNOSAL TISSUE OF DIABETIC RABBITS: POTENTIAL RELEVANCE TO THE PATHOGENESIS OF ERECTILE DYSFUNCTION

1997 ◽  
Vol 158 (5) ◽  
pp. 1966-1972 ◽  
Author(s):  
M.E. Sullivan ◽  
M.R. Dashwood ◽  
C.S. Thompson ◽  
J.R. Muddle ◽  
D.P. Mikhailidis ◽  
...  
Keyword(s):  
Erectile Dysfunction ◽  
Endothelin B Receptor ◽  
Receptor Sites ◽  
Endothelin B ◽  
Diabetic Rabbits

scholarly journals Placenta growth factor augments endothelin-1 and endothelin-B receptor expression via hypoxia-inducible factor-1α

Blood ◽  
2008 ◽  
Vol 112 (3) ◽  
pp. 856-865 ◽  
Author(s):  
Nitin Patel ◽  
Caryn S. Gonsalves ◽  
Punam Malik ◽  
Vijay K. Kalra
Keyword(s):  
Growth Factor ◽  
Hypoxia Inducible Factor ◽  
Receptor Expression ◽  
Placenta Growth Factor ◽  
Promoter Regions ◽  
Endothelin B Receptor ◽  
Endothelin 1 ◽  
Hypoxia Inducible Factor 1Α ◽  
Endothelin B ◽  
Potent Vasoconstrictor

Abstract Pulmonary hypertension (PHT) develops in sickle cell disease (SCD) and is associated with high mortality. We previously showed that erythroid cells produce placenta growth factor (PlGF), which activates monocytes to induce proinflammatory cytochemokines, contributing to the baseline inflammation and severity in SCD. In this study, we observed that PlGF increased expression of endothelin-1 (ET-1) and endothelin-B receptor (ET-BR) from human pulmonary microvascular endothelial cells (HPMVECs) and monocytes, respectively. PlGF-mediated ET-1 and ET-BR expression occurred via activation of PI-3 kinase, reactive oxygen species and hypoxia inducible factor-1α (HIF-1α). PlGF increased binding of HIF-1α to the ET-1 and ET-BR promoters; this effect was abrogated with mutation of hypoxia response elements in the promoter regions and HIF-1α siRNA and confirmed by chromatin immunoprecipitation analysis. Furthermore, PlGF-mediated ET-1 release from HPMVECs and ET-BR expression in monocytes creates a PlGF–ET-1–ET-BR loop, leading to increased expression of MCP-1 and IL-8. Our studies show that PlGF-induced expression of the potent vasoconstrictor ET-1 and its cognate ET-BR receptor occur via activation of HIF-1α, independent of hypoxia. PlGF levels are intrinsically elevated from the increased red cell turnover in SCD and in other chronic anemia (eg, thalassemia) and may contribute to inflammation and PHT seen in these diseases.

Novel mutation of Endothelin-B receptor gene in Waardenburg–Hirschsprung disease

2005 ◽  
Vol 21 (12) ◽  
pp. 960-963 ◽  
Author(s):  
Surasak Sangkhathat ◽  
Piyawan Chiengkriwate ◽  
Takeshi Kusafuka ◽  
Sakda Patrapinyokul ◽  
Masahiro Fukuzawa
Keyword(s):  
Novel Mutation ◽  
Receptor Gene ◽  
Hirschsprung Disease ◽  
Endothelin B Receptor ◽  
Endothelin B

Mutation Analysis of Endothelin-B Receptor Gene in Patients With Hirschsprung Disease in Taiwan

2008 ◽  
Vol 46 (1) ◽  
pp. 36-40 ◽  
Author(s):  
Yu-Cheng Lin ◽  
Hong-Shiee Lai ◽  
Wen-Ming Hsu ◽  
Ping-Ing Lee ◽  
Huey-Ling Chen ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Receptor Gene ◽  
Hirschsprung Disease ◽  
Endothelin B Receptor ◽  
Endothelin B

scholarly journals Vascular Endothelin-B Receptor System In Vivo Plays a Favorable Inhibitory Role in Vascular Remodeling After Injury Revealed by Endothelin-B Receptor–Knockout Mice

Circulation ◽  
2002 ◽  
Vol 106 (15) ◽  
pp. 1991-1998 ◽  
Author(s):  
Nobuyuki Murakoshi ◽  
Takashi Miyauchi ◽  
Yoshihiko Kakinuma ◽  
Takashi Ohuchi ◽  
Katsutoshi Goto ◽  
...  
Keyword(s):  
Knockout Mice ◽  
Vascular Remodeling ◽  
Receptor System ◽  
Endothelin B Receptor ◽  
Inhibitory Role ◽  
Endothelin B

Altered Cavernosal Endothelin-B-Receptor Binding Sites in the Rabbit Model of Partial Bladder Outlet Obstruction

2000 ◽  
Vol 36 ◽  
pp. S260-S261
Author(s):  
Cecil S. Thompson ◽  
Masood A. Khan ◽  
Michael R. Dashwood ◽  
Faiz H. Mumtaz ◽  
Dimitri P. Mikhailidis ◽  
...  
Keyword(s):  
Receptor Binding ◽  
Binding Sites ◽  
Bladder Outlet Obstruction ◽  
Rabbit Model ◽  
Outlet Obstruction ◽  
Endothelin B Receptor ◽  
Partial Bladder Outlet Obstruction ◽  
Endothelin B

scholarly journals Chromosome 13q deletion syndrome involving 13q31-qter: A case report

2017 ◽  
Vol 15 (6) ◽  
pp. 3658-3664 ◽  
Author(s):  
Yue-Ping Wang ◽  
Da-Jia Wang ◽  
Zhi-Bin Niu ◽  
Wan-Ting Cui
Keyword(s):  
Case Report ◽  
Deletion Syndrome ◽  
Chromosome 13Q ◽  
13Q Deletion
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