PDGF in organ fibrosis

BM Klinkhammer, J Floege, P Boor - Molecular Aspects of Medicine, 2018 - Elsevier
Fibrosis is part of a tissue repair response to injury, defined as increased deposition of
extracellular matrix. In some instances, fibrosis is beneficial; however, in the majority of …

PDGF receptor mutations in human diseases

E Guérit, F Arts, G Dachy, B Boulouadnine… - Cellular and Molecular …, 2021 - Springer
PDGFRA and PDGFRB are classical proto-oncogenes that encode receptor tyrosine kinases
responding to platelet-derived growth factor (PDGF). PDGFRA mutations are found in …

Involvement of platelet‐derived growth factor ligands and receptors in tumorigenesis

CH Heldin, J Lennartsson… - Journal of internal …, 2018 - Wiley Online Library
Platelet‐derived growth factor (PDGF) isoforms and their receptors have important roles
during embryogenesis, particularly in the development of various mesenchymal cell types in …

The genetics of primary familial brain calcification: a literature review

SY Chen, CJ Ho, YT Lu, CH Lin, MY Lan… - International Journal of …, 2023 - mdpi.com
Primary familial brain calcification (PFBC), also known as Fahr's disease, is a rare inherited
disorder characterized by bilateral calcification in the basal ganglia according to …

PDGFRB gain-of-function mutations in sporadic infantile myofibromatosis

FA Arts, R Sciot, B Brichard, M Renard… - Human molecular …, 2017 - academic.oup.com
Infantile myofibromatosis is one of the most prevalent soft tissue tumors of infancy and
childhood. Multifocal nodules with visceral lesions are associated with a poor prognosis. A …

Functional Characterization of Germline Mutations in PDGFB and PDGFRB in Primary Familial Brain Calcification

M Vanlandewijck, T Lebouvier, M Andaloussi Mäe… - PloS one, 2015 - journals.plos.org
Primary Familial Brain Calcification (PFBC), a neurodegenerative disease characterized by
progressive pericapillary calcifications, has recently been linked to heterozygous mutations …

The pathology of primary familial brain calcification: implications for treatment

X Xu, H Sun, J Luo, X Cheng, W Lv, W Luo… - Neuroscience …, 2023 - Springer
Primary familial brain calcification (PFBC) is an inherited neurodegenerative disorder mainly
characterized by progressive calcium deposition bilaterally in the brain, accompanied by …

PDGFRB mutants found in patients with familial infantile myofibromatosis or overgrowth syndrome are oncogenic and sensitive to imatinib

FA Arts, D Chand, C Pecquet, AI Velghe… - Oncogene, 2016 - nature.com
Recently, germline and somatic heterozygous mutations in the platelet-derived growth factor
receptor β (PDGFRB) have been associated with familial infantile myofibromatosis (IM) …

Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers

G Nicolas, C Charbonnier, RR de Lemos… - American Journal of …, 2015 - Wiley Online Library
Primary Familial Brain Calcification (PFBC) is a dominantly inherited cerebral microvascular
calcifying disorder with diverse neuropsychiatric expression. Three causative genes have …

Ossified blood vessels in primary familial brain calcification elicit a neurotoxic astrocyte response

Y Zarb, U Weber-Stadlbauer, D Kirschenbaum… - Brain, 2019 - academic.oup.com
Brain calcifications are commonly detected in aged individuals and accompany numerous
brain diseases, but their functional importance is not understood. In cases of primary familial …