Associated Papers
Low-Level Mosaicism in Tuberous Sclerosis Complex (TSC): Diagnostic and Clinical Implications From Two Novel Cases and Literature Review.
Ambrosetti I et al.
American Journal of Medical Genetics. Part A, 2026
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
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
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
Genomic Characterization of Chondrosarcoma Reveals Potential Therapeutic Targets.
Wagner MJ et al.
Jco Precision Oncology, 2025
Whole-exome sequencing identifies distinct genomic aberrations in eccrine porocarcinomas and poromas.
Puttonen M et al.
Orphanet Journal of Rare Diseases, 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
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
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
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Concurrent PTEN and PDGFRB Alterations Characterize Storiform Collagenoma.
Pakyari M et al.
The American Journal of Surgical Pathology, 2024
Prenatal genetic diagnosis of disseminated infantile myofibromatosis: a case report and literature review.
Lü Y et al.
Bmc Medical Genomics, 2023
Increased PDGFRB and NF-κB signaling caused by highly prevalent somatic mutations in intracranial aneurysms.
Shima Y et al.
Science Translational Medicine, 2023
Genomic analysis reveals germline and somatic PDGFRB variants with clinical implications in familial infantile myofibromatosis.
Barry KK et al.
Pediatric Blood & Cancer, 2023
High-Grade Sarcomas with Myogenic Differentiation Harboring Hotspot PDGFRB Mutations.
Dermawan JK et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2023
Molecular Tumor Boards: The Next Step towards Precision Therapy in Cancer Care.
Liu A et al.
Hematology Reports, 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
Avoidance of surgery for head and neck infantile myofibromatosis using imatinib monotherapy.
Pattisapu P et al.
Clinical Case Reports, 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
Aggressive infantile myofibromatosis with intestinal involvement.
Römer T et al.
Molecular and Cellular Pediatrics, 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
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
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
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
Notch Pathway and Inherited Diseases: Challenge and Promise.
Reichrath J et al.
Advances in Experimental Medicine and Biology, 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
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
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
[Myofibroma/myofibromatosis: a clinicopathologic analysis of 9 cases].
Fu Y et al.
Zhonghua Bing Li Xue Za Zhi = Chinese Journal of Pathology, 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
Inhibitor repurposing reveals ALK, LTK, FGFR, RET and TRK kinases as the targets of AZD1480.
Gudernova I et al.
Oncotarget, 2017
The spectrum of infantile myofibromatosis includes both non-penetrance and adult recurrence.
Murray N et al.
European Journal of Medical Genetics, 2017