Associated Papers
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
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
A Unique Presentation of Multicentric Myofibromatosis in the Masseter Muscle of a Pediatric Patient.
Padilla EP et al.
Ear, Nose, & Throat Journal, 2025
Corneal Myofibromatous and Pterygium-Like Changes in a Family With a PDGFRB Variant.
Raber IM et al.
Cornea, 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
A computational workflow for analysis of missense mutations in precision oncology.
Khan RT et al.
Journal of Cheminformatics, 2024
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
Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working Group.
Hettmer S et al.
Familial Cancer, 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
Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions.
Bredrup C et al.
Human Molecular Genetics, 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
Premature aging disorders: A clinical and genetic compendium.
Schnabel F et al.
Clinical Genetics, 2021
Generalized infantile myofibromatosis with visceral involvement presenting as diffuse hypopigmented macules at birth.
Saikaly SK et al.
Pediatric Dermatology, 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
A Distinctive Genomic and Immunohistochemical Profile for NOTCH3 and PDGFRB in Myofibroma With Diagnostic and Therapeutic Implications.
Koo SC et al.
International Journal of Surgical Pathology, 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
Novel PDGFRB rearrangement in multifocal infantile myofibromatosis is tumorigenic and sensitive to imatinib.
Hassan M et al.
Cold Spring Harbor Molecular Case Studies, 2019
Redefining the Etiologic Landscape of Cerebellar Malformations.
Aldinger KA et al.
American Journal of Human Genetics, 2019
PDGRFB mutation-associated myofibromatosis: Response to targeted therapy with imatinib.
Weller JM et al.
American Journal of Medical Genetics. Part A, 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
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
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
STAT1 modulates tissue wasting or overgrowth downstream from PDGFRβ.
He C et al.
Genes & Development, 2017
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