Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Variable response of germline activating PDGFRB variants to receptor tyrosine kinase inhibitors: implications for treatment.
Cristea I et al.
European Journal of Human Genetics : Ejhg, 2025
Germline Variants in Patients Affected by Both Uveal and Cutaneous Melanoma.
Johansson PA et al.
Pigment Cell & Melanoma Research, 2025
Late Relapse in Genetically Determined Infantile Myofibromatosis. A Case Report and Brief Focus on Recurrences.
Conte A et al.
Journal of Pediatric Hematology/oncology, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Clinical and molecular response to dasatinib in an adult patient with Penttinen syndrome.
Iznardo H et al.
American Journal of Medical Genetics. Part A, 2022
Somatic Mosaicism of a PDGFRB Activating Variant in Aneurysms of the Intracranial, Coronary, Aortic, and Radial Artery Vascular Beds.
Parada CA et al.
Journal of the American Heart Association, 2022
Kosaki Overgrowth Syndrome: Report of a Family with a Novel PDGFRB Variant.
Mutlu Albayrak H et al.
Molecular Syndromology, 2022
Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working Group.
Hettmer S et al.
Familial Cancer, 2021
The infantile myofibromatosis NOTCH3 L1519P mutation leads to hyperactivated ligand-independent Notch signaling and increased PDGFRB expression.
Wu D et al.
Disease Models & Mechanisms, 2021
Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications.
Foster A et al.
Clinical Genetics, 2020
Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.
Wenger TL et al.
American Journal of Medical Genetics. Part A, 2020
Odontogenic myxomas lack PDGFRB mutations reported in myofibromas.
de Siqueira EC et al.
Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology, 2020
Notch Pathway and Inherited Diseases: Challenge and Promise.
Reichrath J et al.
Advances in Experimental Medicine and Biology, 2020
A novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis.
Guimier A et al.
American Journal of Medical Genetics. Part A, 2019
A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome.
Bredrup C et al.
European Journal of Human Genetics : Ejhg, 2019
Effects of Sunitinib and Other Kinase Inhibitors on Cells Harboring a PDGFRB Mutation Associated with Infantile Myofibromatosis.
Sramek M et al.
International Journal of Molecular Sciences, 2018
A patient with germ-line gain-of-function PDGFRB p.N666H mutation and marked clinical response to imatinib.
Pond D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
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.
Mudry P et al.
Bmc Cancer, 2017
Recurrent Somatic PDGFRB Mutations in Sporadic Infantile/Solitary Adult Myofibromas But Not in Angioleiomyomas and Myopericytomas.
Agaimy A et al.
The American Journal of Surgical Pathology, 2017
PDGFRB mutants found in patients with familial infantile myofibromatosis or overgrowth syndrome are oncogenic and sensitive to imatinib.
Arts FA et al.
Oncogene, 2016
Identification of novel hereditary cancer genes by whole exome sequencing.
Sokolenko AP et al.
Cancer Letters, 2015
Modulation of expressivity in PDGFRB-related infantile myofibromatosis: a role for PTPRG?
Linhares ND et al.
Genetics and Molecular Research : Gmr, 2014
[Autosomal dominant (familial) infantile myofibromatosis: The causative role of mutations in PDGFRB and NOTCH3].
Dereure O
Annales De Dermatologie Et De Venereologie, 2013
Mutations in PDGFRB and NOTCH3 are the first genetic causes identified for autosomal dominant infantile myofibromatosis.
Lee JW
Clinical Genetics, 2013
Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.
Martignetti JA et al.
American Journal of Human Genetics, 2013
Infantile Myofibromatosis With Intracranial Extradural Involvement and PDGFRB Mutation: A Case Report and Review of the Literature.
Al Qawahmed R et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0