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

Novel Overgrowth Syndrome Phenotype Due to Recurrent De Novo PDGFRB Mutation

(2015) Toshiki Takenouchi et al.   JOURNAL OF PEDIATRICS

PDGF receptor signaling networks in normal and cancer cells

(2014) Jean-Baptiste Demoulin et al.   CYTOKINE & GROWTH FACTOR REVIEWS

Growth deceleration in children treated with imatinib for chronic myeloid leukaemia

(2014) Frédéric Millot et al.   EUROPEAN JOURNAL OF CANCER

Short Communication Modulation of expressivity in PDGFRB-related infantile myofibromatosis: a role for PTPRG?

(2014) N.D. Linhares et al.   GENETICS AND MOLECULAR RESEARCH

Idiopathic basal ganglia calcification-associatedPDGFRBmutations impair the receptor signalling

(2014) Florence A. Arts et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Infantile myofibromatosis: A series of 28 cases

(2014) Jacob Mashiah et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

The tyrosine phosphatase SHP2 is required for cell transformation by the receptor tyrosine kinase mutants FIP1L1-PDGFRα and PDGFRα D842V

(2014) Laura A. Noël et al.   Molecular Oncology

A Recurrent PDGFRB Mutation Causes Familial Infantile Myofibromatosis

(2013) Yee Him Cheung et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis

(2013) John A. Martignetti et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification

(2013) Gaël Nicolas et al.   BRAIN

Targeting the PDGF signaling pathway in tumor treatment

(2013) Carl-Henrik Heldin   Cell Communication and Signaling

PDGFRA alterations in cancer: characterization of a gain-of-function V536E transmembrane mutant as well as loss-of-function and passenger mutations

(2013) A I Velghe et al.   ONCOGENE

Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification

(2012) G. Nicolas et al.   NEUROLOGY

Activating ALK mutations found in neuroblastoma are inhibited by Crizotinib and NVP-TAE684

(2011) Christina Schönherr et al.   BIOCHEMICAL JOURNAL

Multiple oligomerization domains of KANK1-PDGFR  are required for JAK2-independent hematopoietic cell proliferation and signaling via STAT5 and ERK

(2011) S. Medves et al.   HAEMATOLOGICA

A Mosaic Activating Mutation inAKT1Associated with the Proteus Syndrome

(2011) Marjorie J. Lindhurst et al.   NEW ENGLAND JOURNAL OF MEDICINE

New insights into the mechanisms of hematopoietic cell transformation by activated receptor tyrosine kinases

(2010) F. Toffalini et al.   BLOOD

Familial occurrence of infantile myofibromatosis

(2010) Matej Bračko et al.   CANCER

Integrating pharmacogenetics and therapeutic drug monitoring: optimal dosing of imatinib as a case-example

(2010) Alain Li-Wan-Po et al.   EUROPEAN JOURNAL OF CLINICAL PHARMACOLOGY

KANK1, a candidate tumor suppressor gene, is fused to PDGFRB in an imatinib-responsive myeloid neoplasm with severe thrombocythemia

(2010) S Medves et al.   LEUKEMIA

Role of platelet-derived growth factors in physiology and medicine

(2008) J. Andrae et al.   GENES & DEVELOPMENT