Associated Papers
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
Targeted DNA Sequencing for Tailored Therapies in Children with Extracranial Solid Tumors.
Andreeva NA et al.
International Journal of Molecular Sciences, 2025
Haploinsufficiency of Runx2 restores the cranial sutures in a mouse model of Pdgfrb-related craniosynostosis.
Ogawa E et al.
Human Molecular Genetics, 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
Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.
Meintani A et al.
International Journal of Molecular Sciences, 2025
A germline PDGFRB splice site variant associated with infantile myofibromatosis and resistance to imatinib.
Boulouadnine B et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
Concurrent PTEN and PDGFRB Alterations Characterize Storiform Collagenoma.
Pakyari M et al.
The American Journal of Surgical Pathology, 2024
Corneal Vascularization Associated With a Novel PDGFRB Variant.
Gladkauskas T et al.
Investigative Ophthalmology & Visual Science, 2023
Increased PDGFRB and NF-κB signaling caused by highly prevalent somatic mutations in intracranial aneurysms.
Shima Y et al.
Science Translational Medicine, 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
Clinical and technical assessment of MedExome vs. NGS panels in patients with suspected genetic disorders in Southwestern Ontario.
Aref-Eshghi E et al.
Journal of Human Genetics, 2021
Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys).
Chenbhanich J et al.
American Journal of Medical Genetics. Part A, 2021
Novel COL4A1-VEGFD gene fusion in myofibroma.
Dachy G et al.
Journal of Cellular and Molecular Medicine, 2021
PDGF receptor mutations in human diseases.
Guérit E et al.
Cellular and Molecular Life Sciences : Cmls, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 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
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
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
Redefining the Etiologic Landscape of Cerebellar Malformations.
Aldinger KA et al.
American Journal of Human Genetics, 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
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