Literature DB >> 27259057

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

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.   

Abstract

Entities:  

Year:  2016        PMID： 27259057      PMCID： PMC4908183          DOI： 10.1016/j.ajhg.2016.05.010

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  16 in total

1.  Recurrent GNAQ mutations in anastomosing hemangiomas.

Authors:  Gregory R Bean; Nancy M Joseph; Ryan M Gill; Andrew L Folpe; Andrew E Horvai; Sarah E Umetsu
Journal:  Mod Pathol       Date:  2017-01-13       Impact factor: 7.842

2.  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

3.  Use of Targeted Next-Generation Sequencing to Identify Activating Hot Spot Mutations in Cherry Angiomas.

Authors:  Nikolai Klebanov; William M Lin; Mykyta Artomov; Michael Shaughnessy; Ching-Ni Njauw; Romi Bloom; Agda Karina Eterovic; Ken Chen; Tae-Beom Kim; Sandy S Tsao; Hensin Tsao
Journal:  JAMA Dermatol       Date:  2019-02-01       Impact factor: 10.282

4.  Endothelial k-RasV12 Expression Induces Capillary Deficiency Attributable to Marked Tube Network Expansion Coupled to Reduced Pericytes and Basement Membranes.

Authors:  Zheying Sun; Scott S Kemp; Prisca K Lin; Kalia N Aguera; George E Davis
Journal:  Arterioscler Thromb Vasc Biol       Date:  2021-12-09       Impact factor: 8.311

5.  Driver pattern identification over the gene co-expression of drug response in ovarian cancer by integrating high throughput genomics data.

Authors:  Xinguo Lu; Jibo Lu; Bo Liao; Xing Li; Xin Qian; Keqin Li
Journal:  Sci Rep       Date:  2017-11-23       Impact factor: 4.379

6.  Knockin mouse with mutant Gα11 mimics human inherited hypocalcemia and is rescued by pharmacologic inhibitors.

Authors:  Kelly L Roszko; Ruiye Bi; Caroline M Gorvin; Hans Bräuner-Osborne; Xiao-Feng Xiong; Asuka Inoue; Rajesh V Thakker; Kristian Strømgaard; Thomas Gardella; Michael Mannstadt
Journal:  JCI Insight       Date:  2017-02-09

Review 7.  Vascular Anomalies of the Head and Neck: A Pediatric Overview.

Authors:  Juan Putra; Alyaa Al-Ibraheemi
Journal:  Head Neck Pathol       Date:  2021-03-15

8.  GNA14, GNA11, and GNAQ Mutations Are Frequent in Benign but Not Malignant Cutaneous Vascular Tumors.

Authors:  Philipp Jansen; Hansgeorg Müller; Georg C Lodde; Anne Zaremba; Inga Möller; Antje Sucker; Annette Paschen; Stefan Esser; Jörg Schaller; Matthias Gunzer; Fabian Standl; Sebastian Bauer; Dirk Schadendorf; Thomas Mentzel; Eva Hadaschik; Klaus G Griewank
Journal:  Front Genet       Date:  2021-04-30       Impact factor: 4.599

9.  Somatic mosaicism in the MAPK pathway in sporadic brain arteriovenous malformation and association with phenotype.

Authors:  Sen Gao; Jeffrey Nelson; Shantel Weinsheimer; Ethan A Winkler; Caleb Rutledge; Adib A Abla; Nalin Gupta; Joseph T Shieh; Daniel L Cooke; Steven W Hetts; Tarik Tihan; Christopher P Hess; Nerissa Ko; Brian P Walcott; Charles E McCulloch; Michael T Lawton; Hua Su; Ludmila Pawlikowska; Helen Kim
Journal:  J Neurosurg       Date:  2021-07-02       Impact factor: 5.408

Review 10.  Germline and sporadic cancers driven by the RAS pathway: parallels and contrasts.

Authors:  V Dunnett-Kane; E Burkitt-Wright; F H Blackhall; A Malliri; D G Evans; C R Lindsay
Journal:  Ann Oncol       Date:  2020-03-30       Impact factor: 32.976
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