A recurrent PDGFRB mutation causes familial infantile myofibromatosis.
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Functional Characterization of Germline Mutations in PDGFB and PDGFRB in Primary Familial Brain CalcificationPlatelet-derived growth factor receptor/platelet-derived growth factor (PDGFR/PDGF) system is a prognostic and treatment response biomarker with multifarious therapeutic targets in cancers.FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome.Case report: rapid and durable response to PDGFR targeted therapy in a child with refractory multiple infantile myofibromatosis and a heterozygous germline mutation of the PDGFRB gene.PDGF, pericytes and the pathogenesis of idiopathic basal ganglia calcification (IBGC).The genetics of primary familial brain calcifications.Cancer genomics: why rare is valuable.The platelet-derived growth factors (PDGFs) and their receptors (PDGFRs) are major players in oncogenesis, drug resistance, and attractive oncologic targets in cancer.PDGFRB gain-of-function mutations in sporadic infantile myofibromatosis.Idiopathic basal ganglia calcification-associated PDGFRB mutations impair the receptor signalling.Clinical and radiological diversity in genetically confirmed primary familial brain calcification.Primary familial brain calcification: update on molecular genetics.STAT1 modulates tissue wasting or overgrowth downstream from PDGFRβ.PDGFRB mutants found in patients with familial infantile myofibromatosis or overgrowth syndrome are oncogenic and sensitive to imatinib.Notch Signaling in Development, Tissue Homeostasis, and Disease.A case of advanced infantile myofibromatosis harboring a novel MYH10-RET fusion.A Solitary Intestinal Myofibroma: A Rare Cause of Neonatal Anemia.Infantile myofibromatosis.Recurrent SRF-RELA Fusions Define a Novel Subset of Cellular Myofibroma/Myopericytoma: A Potential Diagnostic Pitfall With Sarcomas With Myogenic Differentiation.Myopericytoma/myopericytomatosis of the lower extremity in two young patients: a recently designated rare soft tissue neoplasm.Expansion of the phenotype of Kosaki overgrowth syndrome.Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology.Paediatric and adult soft tissue sarcomas with NTRK1 gene fusions: a subset of spindle cell sarcomas unified by a prominent myopericytic/haemangiopericytic pattern.Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing.Primary brain calcification: an international study reporting novel variants and associated phenotypesEffects of Sunitinib and Other Kinase Inhibitors on Cells Harboring a Mutation Associated with Infantile Myofibromatosis
P2860
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P2860
A recurrent PDGFRB mutation causes familial infantile myofibromatosis.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
2013年论文
@zh
2013年论文
@zh-cn
name
A recurrent PDGFRB mutation causes familial infantile myofibromatosis.
@en
type
label
A recurrent PDGFRB mutation causes familial infantile myofibromatosis.
@en
prefLabel
A recurrent PDGFRB mutation causes familial infantile myofibromatosis.
@en
P2093
P2860
P50
P1476
A recurrent PDGFRB mutation causes familial infantile myofibromatosis.
@en
P2093
Brenda Moroz
Brendan H Lee
Charles A LeDuc
David L Burk
David Malkin
David Orchard
Donna Russo
James T Lu
Jiancheng Guo
Karen W Eldin
P2860
P304
P356
10.1016/J.AJHG.2013.04.026
P407
P577
2013-05-23T00:00:00Z