Arteriovenous malformation associated with a HRAS mutation-Reference-Cited by-同舟云学术

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Arteriovenous malformation associated with a HRAS mutation

Published:2019-10-21 Issue:11-12 Volume:138 Page:1419-1421
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Konczyk Dennis J.,Goss Jeremy A.,Smits Patrick J.,Huang August Y.,Al-Ibraheemi Alyaa,Sudduth Christopher L.,Warman Matthew L.,Greene Arin K.

Funder

Eunice Kennedy Shriver National Institute of Child Health and Human Development

National Institutes of Health

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-019-02072-y.pdf

Reference7 articles.

1. Al-Olabi L, Polubothu S, Dowsett K et al (2018) Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy. J Clin Investig 128:1496–1508. https://doi.org/10.1172/JCI98589

2. Cibulskis K, Lawrence MS, Carter SL et al (2013) Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples. Nat Biotechnol 31:213–219. https://doi.org/10.1038/nbt.2514

3. Couto JA, Huang AY, Konczyk DJ et al (2017) Somatic MAP2K1 mutations are associated with extracranial arteriovenous malformation. Am J Hum Genet 100:546–554. https://doi.org/10.1016/j.ajhg.2017.01.018

4. Greene AK, Goss JA (2018) Vascular anomalies: from a clinicohistologic to a genetic framework. Plast Reconstr Surg 141:709e–717e. https://doi.org/10.1097/PRS.0000000000004294

5. Hobbs GA, Der CJ, Rossman KL (2016) RAS isoforms and mutations in cancer at a glance. J Cell Sci 129:1287–1292. https://doi.org/10.1242/jcs.182873

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1. Somatic RIT1 delins in arteriovenous malformations hyperactivate RAS-MAPK signaling amenable to MEK inhibition;Angiogenesis;2024-07-05

2. Extracranial Vascular Anomalies Driven by RAS/MAPK Variants: Spectrum and Genotype–Phenotype Correlations;Journal of the American Heart Association;2024-04-16

3. Updates in Genetic Testing for Head and Neck Vascular Anomalies;Oral and Maxillofacial Surgery Clinics of North America;2024-02

4. Somatic RIT1 indels identified in arteriovenous malformations hyperactivate RAS-MAPK signaling and are amenable to MEK inhibition;2023-11-13

5. Arteriovenous malformation Map2k1 mutation affects vasculogenesis;Scientific Reports;2023-07-08

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