Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy-Reference-Cited by-同舟云学术

Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy

Published:2020-06-05 Issue:7 Volume:182 Page:1576-1591
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Wenger Tara L.¹^ORCID,Bly Randall A.²,Wu Natalie³,Albert Catherine M.³,Park Julie³,Shieh Joseph⁴,Chenbhanich Jirat⁴,Heike Carrie L.⁵,Adam Margaret P.¹,Chang Irene¹,Sun Angela¹^ORCID,Miller Danny E.¹^ORCID,Beck Anita E.¹^ORCID,Gupta Deepti⁶,Boos Markus D.⁶,Zackai Elaine H.⁷,Everman David⁸,Ganapathi Shireen³,Wilson Meredith⁹¹⁰,Christodoulou John¹¹^ORCID,Zarate Yuri A.¹²^ORCID,Curry Cynthia⁴,Li Dong¹³,Guimier Anne¹⁴,Amiel Jeanne¹⁴,Hakonarson Hakon¹³,Webster Richard¹⁵,Bhoj Elizabeth J.⁷¹³^ORCID,Perkins Jonathan A.²,Dahl John P.²,Dobyns William B.¹^ORCID

Affiliation:

1. Division of Genetic Medicine University of Washington Seattle Washington USA

2. Department of Otolaryngology Seattle Children's Hospital Seattle Washington USA

3. Division of Hematology/Oncology Seattle Children's Hospital Seattle Washington USA

4. Division of Medical Genetics Benioff Children's Hospital and Institute for Human Genetics, University of California San Francisco San Francisco California USA

5. Division of Craniofacial Medicine Seattle Children's Hospital Seattle Washington USA

6. Division of Dermatology Seattle Children's Hospital Seattle Washington USA

7. Division of Human Genetics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

8. Greenwood Genetics Center Greenville South Carolina USA

9. Department of Clinical Genetics, Sydney Children's Hospitals Network‐Westmead University of Sydney Sydney New South Wales Australia

10. Division of Genetic Medicine University of Sydney Sydney New South Wales Australia

11. Murdoch Children's Research Institute, Parkville, Department of Paediatrics, Melbourne Medical School University of Melbourne Melbourne Victoria Australia

12. Section of Genetics and Metabolism University of Arkansas for Medical Sciences Little Rock Arkansas USA

13. Center for Applied Genomics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

14. Département de Génétique Hôpital Necker‐Enfants Malades, Assistance Publique Hôpitaux de Paris (AP‐HP) Paris France

15. Department of Neurology Sydney Children's Hospital Network Westmead New South Wales Australia

Funder

National Institute of Neurological Disorders and Stroke

National Heart, Lung, and Blood Institute

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61615

Reference34 articles.

1. Infantile Myofibromatosis With Intracranial Extradural Involvement and PDGFRB Mutation: A Case Report and Review of the Literature

2. Redefining the Etiologic Landscape of Cerebellar Malformations

3. PDGFRBmutation causes autosomal-dominant Penttinen syndrome

4. PDGFRB mutants found in patients with familial infantile myofibromatosis or overgrowth syndrome are oncogenic and sensitive to imatinib

5. Development of renal and iliac aneurysms in a child with generalized infantile myofibromatosis

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1. Infantile myofibromatosis in a 5-month-old boy;Archives of Disease in Childhood;2023-12-16

2. Corneal infantile myofibromatosis caused by novel activating imatinib-responsive variants in PDGFRB;Ophthalmology Science;2023-12

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4. Pericytes and vascular smooth muscle cells in central nervous system arteriovenous malformations;Frontiers in Physiology;2023-08-04

5. PROX1 inhibits PDGF-B expression to prevent myxomatous degeneration of heart valves;2023-05-15