Literature DB >> 26775782

The somatic GNAQ mutation (R183Q) is primarily located within the blood vessels of port wine stains.

Wenbin Tan1, Dawnica Mercado Nadora2, Lin Gao3, Gang Wang4, Martin C Mihm5, J Stuart Nelson6.   

Abstract

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Year:  2016        PMID： 26775782      PMCID： PMC5110233          DOI： 10.1016/j.jaad.2015.09.063

Source DB:  PubMed          Journal:  J Am Acad Dermatol        ISSN： 0190-9622            Impact factor:   11.527


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  4 in total

1.  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

2.  Novel genetic mutations in a sporadic port-wine stain.

Authors:  Christine Guo Lian; Lynette M Sholl; Labib R Zakka; Teresa M O; Cynthia Liu; Shuyun Xu; Ewelina Stanek; Elizabeth Garcia; Yonghui Jia; Laura E MacConaill; George F Murphy; Milton Waner; Martin C Mihm
Journal:  JAMA Dermatol       Date:  2014-12       Impact factor: 10.282

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

Review 4.  Vascular anomalies: classification, imaging characteristics and implications for interventional radiology treatment approaches.

Authors:  P R Mulligan; H J S Prajapati; L G Martin; T H Patel
Journal:  Br J Radiol       Date:  2014-03       Impact factor: 3.039
  4 in total
  19 in total

1.  Pathological alterations involve the entire skin physiological milieu in infantile and early-childhood port-wine stain.

Authors:  W Tan; L R Zakka; L Gao; J Wang; F Zhou; M K Selig; R Anvari; A Sukanthanag; G Wang; M C Mihm; J S Nelson
Journal:  Br J Dermatol       Date:  2017-06-01       Impact factor: 9.302

Review 2.  Vascular Anomalies Caused by Abnormal Signaling within Endothelial Cells: Targets for Novel Therapies.

Authors:  Ha-Long Nguyen; Laurence M Boon; Miikka Vikkula
Journal:  Semin Intervent Radiol       Date:  2017-09-11       Impact factor: 1.513

3.  Ultrastructural characterization of hyperactive endothelial cells, pericytes and fibroblasts in hypertrophic and nodular port-wine stain lesions.

Authors:  L Gao; R Yin; H Wang; W Guo; W Song; J S Nelson; W Tan; G Wang
Journal:  Br J Dermatol       Date:  2017-08-24       Impact factor: 9.302

Review 4.  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

5.  GNAQ Mutation in the Venous Vascular Malformation and Underlying Brain Tissue in Sturge-Weber Syndrome.

Authors:  Senthil K Sundaram; Sharon K Michelhaugh; Neil V Klinger; William J Kupsky; Sandeep Sood; Harry T Chugani; Sandeep Mittal; Csaba Juhász
Journal:  Neuropediatrics       Date:  2017-06-01       Impact factor: 1.947

6.  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

7.  Topical Halometasone Reduces Acute Adverse Effects Induced by Pulsed Dye Laser for Treatment of Port Wine Stain Birthmarks.

Authors:  Lin Gao; Linhan Qian; Li Wang; Kai Li; Rong Yin; Yanting Wang; Hanmei Kang; Wenting Song; Gang Wang
Journal:  J Lasers Med Sci       Date:  2017-12-26

8.  Membrane trafficking and exocytosis are upregulated in port wine stain blood vessels.

Authors:  Rong Yin; Shawn J Rice; Jinwei Wang; Lin Gao; Joseph Tsai; Radean T Anvari; Fang Zhou; Xin Liu; Gang Wang; Yuxin Tang; Martin C Mihm; Chandra P Belani; Dong-Bao Chen; J Stuart Nelson; Wenbin Tan
Journal:  Histol Histopathol       Date:  2018-10-10       Impact factor: 2.303

9.  Identification of a Mosaic Activating Mutation in GNA11 in Atypical Sturge-Weber Syndrome.

Authors:  Jeremy Thorpe; Laurence P Frelin; Meghan McCann; Carlos A Pardo; Bernard A Cohen; Anne M Comi; Jonathan Pevsner
Journal:  J Invest Dermatol       Date:  2020-08-07       Impact factor: 8.551

Review 10.  PIP2: A critical regulator of vascular ion channels hiding in plain sight.

Authors:  Osama F Harraz; David Hill-Eubanks; Mark T Nelson
Journal:  Proc Natl Acad Sci U S A       Date:  2020-08-06       Impact factor: 11.205
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