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
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
A Case of Penttinen Syndrome With Radiographic Acroosteolysis From Age 3 Years.
Shimura K et al.
American Journal of Medical Genetics. Part A, 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
Genomic Characterization of Chondrosarcoma Reveals Potential Therapeutic Targets.
Wagner MJ et al.
Jco Precision Oncology, 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
Massive parallel sequencing unveils homologous recombination deficiency in follicular dendritic cell sarcoma.
Lorenzi L et al.
Haematologica, 2024
Corneal Vascularization Associated With a Novel PDGFRB Variant.
Gladkauskas T et al.
Investigative Ophthalmology & Visual Science, 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
Novel Molecular Therapies and Genetic Landscape in Selected Rare Diseases with Hematologic Manifestations: A Review of the Literature.
Ręka G et al.
Cells, 2023
Lipodystrophy-associated progeroid syndromes.
Araújo-Vilar D et al.
Hormones (athens, Greece), 2022
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
Skeletal stem cell fate defects caused by Pdgfrb activating mutation.
Kwon HR et al.
Development (cambridge, England), 2021
Novel somatic alterations in unicentric and idiopathic multicentric Castleman disease.
Goodman AM et al.
European Journal of Haematology, 2021
The EBF1-PDGFRB T681I mutation is highly resistant to imatinib and dasatinib in vitro and detectable in clinical samples prior to treatment.
Tran TH et al.
Haematologica, 2021
Histiocytic and Dendritic Cell Sarcomas of Hematopoietic Origin Share Targetable Genomic Alterations Distinct from Follicular Dendritic Cell Sarcoma.
Massoth LR et al.
The Oncologist, 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
A Review of Genetic Abnormalities in Unicentric and Multicentric Castleman Disease.
Butzmann A et al.
Biology, 2021
Premature aging disorders: A clinical and genetic compendium.
Schnabel F et al.
Clinical Genetics, 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
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
Recurrent PDGFRB mutations in unicentric Castleman disease.
Li Z et al.
Leukemia, 2019