Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 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
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
Case report: Primary familial brain calcification associated with a rare PDGFRB variant, coexisting with nontraumatic osteonecrosis of the femoral head.
Cao C et al.
Frontiers in Neuroscience, 2024
A case report of a patient with primary familial brain calcification with a PDGFRB genetic variant.
Al Ali J et al.
Frontiers in Neurology, 2023
Distinct functional classes of PDGFRB pathogenic variants in primary familial brain calcification.
Lenglez S et al.
Human Molecular Genetics, 2022
PDGF receptor mutations in human diseases.
Guérit E et al.
Cellular and Molecular Life Sciences : Cmls, 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
Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications.
Foster A et al.
Clinical Genetics, 2020
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 novel PDGFRB sequence variant in a family with a mild form of primary familial brain calcification: a case report and a review of the literature.
Mathorne SW et al.
Bmc Neurology, 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
Pericytes in Primary Familial Brain Calcification.
Zarb Y et al.
Advances in Experimental Medicine and Biology, 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
Inhibitor repurposing reveals ALK, LTK, FGFR, RET and TRK kinases as the targets of AZD1480.
Gudernova I et al.
Oncotarget, 2017
Microangiopathy in primary familial brain calcification: Evidence from skin biopsies.
Nicolas G et al.
Neurology. Genetics, 2017
Recurrent Somatic PDGFRB Mutations in Sporadic Infantile/Solitary Adult Myofibromas But Not in Angioleiomyomas and Myopericytomas.
Agaimy A et al.
The American Journal of Surgical Pathology, 2017
Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers.
Nicolas G et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2015
A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome.
Johnston JJ et al.
American Journal of Human Genetics, 2015
Primary familial brain calcification: update on molecular genetics.
Taglia I et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2015
Idiopathic basal ganglia calcification-associated PDGFRB mutations impair the receptor signalling.
Arts FA et al.
Journal of Cellular and Molecular Medicine, 2015
Functional Characterization of Germline Mutations in PDGFB and PDGFRB in Primary Familial Brain Calcification.
Vanlandewijck M et al.
Plos One, 2015
The genetics of primary familial brain calcifications.
Westenberger A et al.
Current Neurology and Neuroscience Reports, 2014
Genetic screening and functional characterization of PDGFRB mutations associated with basal ganglia calcification of unknown etiology.
Sanchez-Contreras M et al.
Human Mutation, 2014
A recurrent PDGFRB mutation causes familial infantile myofibromatosis.
Cheung YH et al.
American Journal of Human Genetics, 2013
Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.
Martignetti JA et al.
American Journal of Human Genetics, 2013
Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification.
Nicolas G et al.
Neurology, 2013
An update on primary familial brain calcification.
Lemos RR et al.
International Review of Neurobiology, 2013