Associated Papers
Recurrent PDGFRB Mutations in Pulmonary Microcystic Fibromyxoma : A Clinicopathologic and Molecular Analysis of 3 Cases.
Zhao M et al.
The American Journal of Surgical Pathology, 2026
Recurrent platelet-derived growth factor receptor beta gene mutations in Kosaki overgrowth syndrome: a molecular and clinical overview.
Gladkauskas T et al.
Clinical Dysmorphology, 2025
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
Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.
Gagoski D et al.
Protein Science : a Publication of the Protein Society, 2025
Treatment of PDGFRB -Related Penttinen Syndrome With Imatinib in a Young Child.
McPheron M et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2025
Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.
Gagoski D et al.
Biorxiv : the Preprint Server for Biology, 2025
Temperature as a Key Modulator: Investigating Phosphorylation Patterns of p.Asn666 PDGFRB Variants and Their Role in Downstream Signaling.
Gladkauskas T et al.
Human Mutation, 2025
Corneal Vascularization Associated With a Novel PDGFRB Variant.
Gladkauskas T et al.
Investigative Ophthalmology & Visual Science, 2023
Penttinen syndrome-associated PDGFRB Val665Ala variant causes aberrant constitutive STAT1 signalling.
Nédélec A et al.
Journal of Cellular and Molecular Medicine, 2022
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
First case report of Penttinen syndrome from India.
Aggarwal B et al.
American Journal of Medical Genetics. Part A, 2022
Kosaki Overgrowth Syndrome: Report of a Family with a Novel PDGFRB Variant.
Mutlu Albayrak H et al.
Molecular Syndromology, 2022
Kosaki overgrowth syndrome due to a novel de novo PDGFRB variant.
Hernández Dorronsoro U et al.
Clinical Genetics, 2022
Skeletal stem cell fate defects caused by Pdgfrb activating mutation.
Kwon HR et al.
Development (cambridge, England), 2021
Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working Group.
Hettmer S et al.
Familial Cancer, 2021
Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys).
Chenbhanich J et al.
American Journal of Medical Genetics. Part A, 2021
PDGF receptor mutations in human diseases.
Guérit E et al.
Cellular and Molecular Life Sciences : Cmls, 2021
Progressive cerebral and coronary aneurysms in the original two patients with Kosaki overgrowth syndrome.
Takenouchi T et al.
American Journal of Medical Genetics. Part A, 2021
Carpal tunnel syndrome in paediatric patients: A novel association with Kosaki overgrowth syndrome.
Walker H et al.
Jpras Open, 2020
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
Kosaki overgrowth syndrome: A newly identified entity caused by pathogenic variants in platelet-derived growth factor receptor-beta.
Takenouchi T et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
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
Constitutive activation of the PI3K-AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome.
Zarate YA 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
Phenotype expansion and development in Kosaki overgrowth syndrome.
Gawliński P et al.
Clinical Genetics, 2018
Pericyte degeneration causes white matter dysfunction in the mouse central nervous system.
Montagne A et al.
Nature Medicine, 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
Expansion of the phenotype of Kosaki overgrowth syndrome.
Minatogawa M et al.
American Journal of Medical Genetics. Part A, 2017
STAT1 modulates tissue wasting or overgrowth downstream from PDGFRβ.
He C et al.
Genes & Development, 2017
PDGFRB gain-of-function mutations in sporadic infantile myofibromatosis.
Arts FA et al.
Human Molecular Genetics, 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
A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome.
Johnston JJ et al.
American Journal of Human Genetics, 2015
Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation.
Takenouchi T et al.
The Journal of Pediatrics, 2015
Corneal Infantile Myofibromatosis Caused by Novel Activating Imatinib-Responsive Variants in PDGFRB.
Howaldt A et al.
Ophthalmology Science, 0