Literature DB >> 32771470

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

Jeremy Thorpe1, Laurence P Frelin2, Meghan McCann2, Carlos A Pardo3, Bernard A Cohen4, Anne M Comi5, Jonathan Pevsner6.   

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Year:  2020        PMID： 32771470      PMCID： PMC8483769          DOI： 10.1016/j.jid.2020.03.978

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  13 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.  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

3.  Mutations in GNA11 in uveal melanoma.

Authors:  Catherine D Van Raamsdonk; Klaus G Griewank; Michelle B Crosby; Maria C Garrido; Swapna Vemula; Thomas Wiesner; Anna C Obenauf; Werner Wackernagel; Gary Green; Nancy Bouvier; M Mert Sozen; Gail Baimukanova; Ritu Roy; Adriana Heguy; Igor Dolgalev; Raya Khanin; Klaus Busam; Michael R Speicher; Joan O'Brien; Boris C Bastian
Journal:  N Engl J Med       Date:  2010-11-17       Impact factor: 91.245

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

Authors:  Wenbin Tan; Dawnica Mercado Nadora; Lin Gao; Gang Wang; Martin C Mihm; J Stuart Nelson
Journal:  J Am Acad Dermatol       Date:  2016-02       Impact factor: 11.527

Review 6.  Phakomatosis pigmentovascularis: Clinical findings in 15 patients and review of the literature.

Authors:  Montse Fernández-Guarino; Pablo Boixeda; Elena de Las Heras; Sonsoles Aboin; Cristina García-Millán; Pedro Jaén Olasolo
Journal:  J Am Acad Dermatol       Date:  2007-11-28       Impact factor: 11.527

7.  A somatic GNA11 mutation is associated with extremity capillary malformation and overgrowth.

Authors:  Javier A Couto; Ugur M Ayturk; Dennis J Konczyk; Jeremy A Goss; August Y Huang; Steve Hann; Jennifer L Reeve; Marilyn G Liang; Joyce Bischoff; Matthew L Warman; Arin K Greene
Journal:  Angiogenesis       Date:  2017-01-24       Impact factor: 9.596

8.  Genetic Variants Associated with Port-Wine Stains.

Authors:  Alice Frigerio; Karol Wright; Whitney Wooderchak-Donahue; Oon T Tan; Rebecca Margraf; David A Stevenson; J Fredrik Grimmer; Pinar Bayrak-Toydemir
Journal:  PLoS One       Date:  2015-07-20       Impact factor: 3.240

9.  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.  Ultra-sensitive droplet digital PCR for detecting a low-prevalence somatic GNAQ mutation in Sturge-Weber syndrome.

Authors:  Yuri Uchiyama; Mitsuko Nakashima; Satoshi Watanabe; Masakazu Miyajima; Masataka Taguri; Satoko Miyatake; Noriko Miyake; Hirotomo Saitsu; Hiroyuki Mishima; Akira Kinoshita; Hajime Arai; Ko-ichiro Yoshiura; Naomichi Matsumoto
Journal:  Sci Rep       Date:  2016-03-09       Impact factor: 4.379
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  1 in total

1.  A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome.

Authors:  Roar Fjær; Katarzyna Marciniak; Olav Sundnes; Hanne Hjorthaug; Ying Sheng; Clara Hammarström; Jan Cezary Sitek; Magnus Dehli Vigeland; Paul Hoff Backe; Ane-Marte Øye; Johanna Hol Fosse; Tor Espen Stav-Noraas; Yuri Uchiyama; Naomichi Matsumoto; Anne Comi; Jonathan Pevsner; Guttorm Haraldsen; Kaja Kristine Selmer
Journal:  Hum Mol Genet       Date:  2021-10-13       Impact factor: 6.150
  1 in total

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