Literature DB >> 31838126

GNA11 Mutation as a Cause of Sturge-Weber Syndrome: Expansion of the Phenotypic Spectrum of Gα/11 Mosaicism and the Associated Clinical Diagnoses.

Satyamaanasa Polubothu1, Lara Al-Olabi2, Maria Carmen Del Boente3, Alisha Chacko4, Georgios Eleftheriou4, Mary Glover4, David Jiménez-Gallo5, Elizabeth A Jones6, Debra Lomas4, Regina Fölster-Holst7, Samira Syed4, Monika Tasani4, Anna Thomas2, Martin Tisdall8, Antonio Torrelo9, Sarah Aylett10, Veronica A Kinsler11.   

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Year:  2019        PMID： 31838126      PMCID： PMC7187890          DOI： 10.1016/j.jid.2019.10.019

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.  Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma.

Authors:  Ugur M Ayturk; Javier A Couto; Steven Hann; John B Mulliken; Kaitlin L Williams; August Yue Huang; Steven J Fishman; Theonia K Boyd; Harry P W Kozakewich; Joyce Bischoff; Arin K Greene; Matthew L Warman
Journal:  Am J Hum Genet       Date:  2016-04-07       Impact factor: 11.025

3.  Phacomatosis pigmentovascularis of cesioflammea type in 7 patients: combination of ocular pigmentation (melanocytosis or melanosis) and nevus flammeus with risk for melanoma.

Authors:  Carol L Shields; Brad E Kligman; Mayerling Suriano; Vanessa Viloria; Juan C Iturralde; Margaret V Shields; Emil A T Say; Jerry A Shields
Journal:  Arch Ophthalmol       Date:  2011-06

4.  Ocular findings in oculodermal melanocytosis.

Authors:  C Teekhasaenee; R Ritch; U Rutnin; N Leelawongs
Journal:  Arch Ophthalmol       Date:  1990-08

Review 5.  Phacomatosis pigmentovascularis revisited and reclassified.

Authors:  Rudolf Happle
Journal:  Arch Dermatol       Date:  2005-03

6.  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

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.  GNA11 brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularis.

Authors:  Joseph M Sliepka; Sarah C McGriff; Linda Z Rossetti; Peyman Bizargity; Haley Streff; Yi-Shan Lee; Hongzheng Dai; Satyamaanasa Polubothu; Grace Lee; Vicky Ren; Jill V Hunter; Daniel J Curry; Fernando Scaglia; Adekunle M Adesina; Irfan Ali; Veronica Kinsler; Lindsay C Burrage; Dana Marafi
Journal:  Neurol Genet       Date:  2019-10-30

9.  Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi.

Authors:  Catherine D Van Raamsdonk; Vladimir Bezrookove; Gary Green; Jürgen Bauer; Lona Gaugler; Joan M O'Brien; Elizabeth M Simpson; Gregory S Barsh; Boris C Bastian
Journal:  Nature       Date:  2008-12-10       Impact factor: 49.962

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
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  4 in total

1.  A novel somatic mutation in GNAQ in a capillary malformation provides insight into molecular pathogenesis.

Authors:  F Galeffi; D A Snellings; S E Wetzel-Strong; N Kastelic; J Bullock; C J Gallione; P E North; D A Marchuk
Journal:  Angiogenesis       Date:  2022-05-30       Impact factor: 10.658

Review 2.  Sturge-Weber syndrome: an update on the relevant issues for neurosurgeons.

Authors:  Federico Bianchi; Anna Maria Auricchio; Domenica Immacolata Battaglia; Daniela Rosaria Pia Chieffo; Luca Massimi
Journal:  Childs Nerv Syst       Date:  2020-06-21       Impact factor: 1.475

3.  A case report of a pregnant woman with Sturge-Weber syndrome.

Authors:  Ying Luo; Yang Yang; Xiu Chen
Journal:  J Int Med Res       Date:  2020-04       Impact factor: 1.671

4.  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
  4 in total

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