Literature DB >> 30112971

Gαq and hyper-phosphorylated ERK expression in Sturge-Weber syndrome leptomeningeal blood vessel endothelial cells.

Rebecca J Wellman1, Su Bin Cho2, Pratibha Singh1, Miriya Tune1, Carlos A Pardo3,4, Anne M Comi1,4,5.   

Abstract

Entities:  

Keywords:  ERK; GNAQ; Gαq; Sturge–Weber syndrome; blood vessel; endothelial cells; leptomeninges

Mesh：

Substances：

Year:  2018        PMID： 30112971      PMCID： PMC6830577          DOI： 10.1177/1358863X18786068

Source DB:  PubMed          Journal:  Vasc Med        ISSN： 1358-863X            Impact factor:   3.239


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  10 in total

1.  Upregulation of hypoxia-inducible factor (HIF)-1alpha and HIF-2alpha in leptomeningeal vascular malformations of Sturge-Weber syndrome.

Authors:  Amina Comati; Heike Beck; William Halliday; G Jackson Snipes; Karl Heinz Plate; Till Acker
Journal:  J Neuropathol Exp Neurol       Date:  2007-01       Impact factor: 3.685

2.  Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ.

Authors:  Matthew D Shirley; Hao Tang; Carol J Gallione; Joseph D Baugher; Laurence P Frelin; Bernard Cohen; Paula E North; Douglas A Marchuk; Anne M Comi; Jonathan Pevsner
Journal:  N Engl J Med       Date:  2013-05-08       Impact factor: 91.245

3.  Sustained activation of c-Jun N-terminal and extracellular signal-regulated kinases in port-wine stain blood vessels.

Authors:  Wenbin Tan; Margarita Chernova; Lin Gao; Victor Sun; Huaxu Liu; Wangcun Jia; Stephanie Langer; Gang Wang; Martin C Mihm; J Stuart Nelson
Journal:  J Am Acad Dermatol       Date:  2014-08-16       Impact factor: 11.527

4.  The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome.

Authors:  Mitsuko Nakashima; Masakazu Miyajima; Hidenori Sugano; Yasushi Iimura; Mitsuhiro Kato; Yoshinori Tsurusaki; Noriko Miyake; Hirotomo Saitsu; Hajime Arai; Naomichi Matsumoto
Journal:  J Hum Genet       Date:  2014-11-06       Impact factor: 3.172

5.  Somatic GNAQ Mutation is Enriched in Brain Endothelial Cells in Sturge-Weber Syndrome.

Authors:  Lan Huang; Javier A Couto; Anna Pinto; Sanda Alexandrescu; Joseph R Madsen; Arin K Greene; Mustafa Sahin; Joyce Bischoff
Journal:  Pediatr Neurol       Date:  2016-10-21       Impact factor: 3.372

6.  Establishment of novel cell lines recapitulating the genetic landscape of uveal melanoma and preclinical validation of mTOR as a therapeutic target.

Authors:  Nabil Amirouchene-Angelozzi; Fariba Nemati; David Gentien; André Nicolas; Amaury Dumont; Guillaume Carita; Jacques Camonis; Laurence Desjardins; Nathalie Cassoux; Sophie Piperno-Neumann; Pascale Mariani; Xavier Sastre; Didier Decaudin; Sergio Roman-Roman
Journal:  Mol Oncol       Date:  2014-06-13       Impact factor: 6.603

7.  The expression of vascular endothelial growth factor and its receptors in port-wine stains.

Authors:  Emre Vural; Jeevan Ramakrishnan; Neslihan Cetin; Lisa Buckmiller; James Y Suen; Chun-Yang Fan
Journal:  Otolaryngol Head Neck Surg       Date:  2008-10       Impact factor: 3.497

8.  Mutant Gq/11 promote uveal melanoma tumorigenesis by activating YAP.

Authors:  Fa-Xing Yu; Jing Luo; Jung-Soon Mo; Guangbo Liu; Young Chul Kim; Zhipeng Meng; Ling Zhao; Gholam Peyman; Hong Ouyang; Wei Jiang; Jiagang Zhao; Xu Chen; Liangfang Zhang; Cun-Yu Wang; Boris C Bastian; Kang Zhang; Kun-Liang Guan
Journal:  Cancer Cell       Date:  2014-05-29       Impact factor: 31.743

Review 9.  Concise review: evidence for CD34 as a common marker for diverse progenitors.

Authors:  Laura E Sidney; Matthew J Branch; Siobhán E Dunphy; Harminder S Dua; Andrew Hopkinson
Journal:  Stem Cells       Date:  2014-06       Impact factor: 6.277

10.  Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis.

Authors:  Anna C Thomas; Zhiqiang Zeng; Jean-Baptiste Rivière; Ryan O'Shaughnessy; Lara Al-Olabi; Judith St-Onge; David J Atherton; Hélène Aubert; Lorea Bagazgoitia; Sébastien Barbarot; Emmanuelle Bourrat; Christine Chiaverini; W Kling Chong; Yannis Duffourd; Mary Glover; Leopold Groesser; Smail Hadj-Rabia; Henning Hamm; Rudolf Happle; Imran Mushtaq; Jean-Philippe Lacour; Regula Waelchli; Marion Wobser; Pierre Vabres; E Elizabeth Patton; Veronica A Kinsler
Journal:  J Invest Dermatol       Date:  2016-01-14       Impact factor: 8.551
  10 in total
  4 in total

Review 1.  A somatic missense mutation in GNAQ causes capillary malformation.

Authors:  Colette Bichsel; Joyce Bischoff
Journal:  Curr Opin Hematol       Date:  2019-05       Impact factor: 3.284

2.  Endothelial GNAQ p.R183Q Increases ANGPT2 (Angiopoietin-2) and Drives Formation of Enlarged Blood Vessels.

Authors:  Lan Huang; Colette Bichsel; Alexis L Norris; Jeremy Thorpe; Jonathan Pevsner; Sanda Alexandrescu; Anna Pinto; David Zurakowski; Robin J Kleiman; Mustafa Sahin; Arin K Greene; Joyce Bischoff
Journal:  Arterioscler Thromb Vasc Biol       Date:  2021-10-21       Impact factor: 8.311

3.  Somatic GNAQ R183Q mutation is located within the sclera and episclera in patients with Sturge-Weber syndrome.

Authors:  Yue Wu; Cheng Peng; Lulu Huang; Hao Sun; Wenyi Guo; Li Xu; Xuming Ding; Yixin Liu; Changjuan Zeng
Journal:  Br J Ophthalmol       Date:  2021-03-11       Impact factor: 5.908

Review 4.  A Primer on a Comprehensive Genetic Approach to Vascular Anomalies.

Authors:  Alexandra J Borst; Taizo A Nakano; Francine Blei; Denise M Adams; Jessica Duis
Journal:  Front Pediatr       Date:  2020-10-19       Impact factor: 3.418
  4 in total

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