Literature DB >> 28571101

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

Senthil K Sundaram1,2,3, Sharon K Michelhaugh4, Neil V Klinger4, William J Kupsky5, Sandeep Sood1,2,4, Harry T Chugani1,2,3,6,7, Sandeep Mittal4,8, Csaba Juhász1,2,3.   

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Year:  2017        PMID： 28571101      PMCID： PMC5587372          DOI： 10.1055/s-0037-1603515

Source DB:  PubMed          Journal:  Neuropediatrics        ISSN： 0174-304X            Impact factor:   1.947


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  15 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.  Competitive allele specific TaqMan PCR for KRAS, BRAF and EGFR mutation detection in clinical formalin fixed paraffin embedded samples.

Authors:  Audrey Didelot; Delphine Le Corre; Armelle Luscan; Aurélie Cazes; Karine Pallier; Jean-François Emile; Pierre Laurent-Puig; Hélène Blons
Journal:  Exp Mol Pathol       Date:  2012-03-07       Impact factor: 3.362

3.  Light microscopy and ultrastructural studies of Sturge-Weber disease.

Authors:  G Di Trapani; C Di Rocco; A L Abbamondi; M Caldarelli; M Pocchiari
Journal:  Childs Brain       Date:  1982

4.  Sturge-Weber Syndrome Is Associated with Cortical Dysplasia ILAE Type IIIc and Excessive Hypertrophic Pyramidal Neurons in Brain Resections for Intractable Epilepsy.

Authors:  Dan-Dan Wang; Ingmar Blümcke; Roland Coras; Wen-Jing Zhou; De-Hong Lu; Qiu-Ping Gui; Jing-Xia Hu; Huan-Cong Zuo; Shi-Yun Chen; Yue-Shan Piao
Journal:  Brain Pathol       Date:  2014-10-30       Impact factor: 6.508

Review 5.  Neurocutaneous syndromes.

Authors:  E S Roach
Journal:  Pediatr Clin North Am       Date:  1992-08       Impact factor: 3.278

6.  Medically intractable epilepsy in Sturge-Weber syndrome is associated with cortical malformation: implications for surgical therapy.

Authors:  Bruno Maton; Pavel Krsek; Prasanna Jayakar; Trevor Resnick; Monica Koehn; Glenn Morrison; John Ragheb; Amilcar Castellano-Sanchez; Michael Duchowny
Journal:  Epilepsia       Date:  2009-09-22       Impact factor: 5.864

7.  Multimodality imaging of cortical and white matter abnormalities in Sturge-Weber syndrome.

Authors:  C Juhász; E M Haacke; J Hu; Y Xuan; M Makki; M E Behen; M Maqbool; O Muzik; D C Chugani; H T Chugani
Journal:  AJNR Am J Neuroradiol       Date:  2007-05       Impact factor: 3.825

8.  Endothelial Cells from Capillary Malformations Are Enriched for Somatic GNAQ Mutations.

Authors:  Javier A Couto; Lan Huang; Matthew P Vivero; Nolan Kamitaki; Reid A Maclellan; John B Mulliken; Joyce Bischoff; Matthew L Warman; Arin K Greene
Journal:  Plast Reconstr Surg       Date:  2016-01       Impact factor: 4.730

9.  Sturge-Weber Syndrome: Brain Magnetic Resonance Imaging and Neuropathology Findings.

Authors:  Anna L Pinto; Liam Chen; Rachel Friedman; Patricia E Grant; Annapurna Poduri; Masanori Takeoka; Sanjay P Prabhu; Mustafa Sahin
Journal:  Pediatr Neurol       Date:  2015-11-26       Impact factor: 3.372

10.  Patterns and pathways of calcification in the developing brain.

Authors:  Emily McCartney; Waney Squier
Journal:  Dev Med Child Neurol       Date:  2014-05-21       Impact factor: 5.449
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  7 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

Review 2.  Vascular anomalies of the head and neck: diagnosis and treatment.

Authors:  Frederic Bertino; Anna V Trofimova; Shenise N Gilyard; C Matthew Hawkins
Journal:  Pediatr Radiol       Date:  2021-04-16

3.  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

4.  Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome.

Authors:  Michael S Hildebrand; A Simon Harvey; Stephen Malone; John A Damiano; Hongdo Do; Zimeng Ye; Lara McQuillan; Wirginia Maixner; Renate Kalnins; Bernadette Nolan; Martin Wood; Ezgi Ozturk; Nigel C Jones; Greta Gillies; Kate Pope; Paul J Lockhart; Alexander Dobrovic; Richard J Leventer; Ingrid E Scheffer; Samuel F Berkovic
Journal:  Neurol Genet       Date:  2018-05-01

Review 5.  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

6.  Genetic syndromes with vascular malformations - update on molecular background and diagnostics.

Authors:  Adam Ustaszewski; Joanna Janowska-Głowacka; Katarzyna Wołyńska; Anna Pietrzak; Magdalena Badura-Stronka
Journal:  Arch Med Sci       Date:  2020-02-25       Impact factor: 3.318

7.  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
  7 in total

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