PDGFB


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PDGFB

A gene on chromosome 22q12.3-q13.1|22q13.1 that encodes platelet-derived growth factor beta, which plays a key role in regulating embryonic development and in cell proliferation, migration, survival and chemotaxis. It is mitogenic for mesenchymal cells and required for proliferation and recruitment of pericytes and vascular smooth muscle cells in the CNS, skin, lung, heart and placenta; for normal blood vessel development; and for normal development of kidney glomeruli. It plays a key role in wound healing.
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Caption: FIGURE 2: Differences in gene expression across time points between the biopaper and PET for (a) CDH5, (b), TJP2, (c) PDGFB, and (d) VCAM1.
PDGFB gene is the second common cause of single-gene IBGC,[10],[11] and was first reported by Keller et al .[26] PDGFB gene plays a crucial role in the development of blood-brain barrier (BBB).
Mutations in PDGFRB results in loss of function of the receptor, which places a detrimental impact on intracellular signaling transduction during the development of BBB and/or other processes, ultimately leading to disturbance of calcium and phosphate metabolism.[29] There were only 2 PDGFRB -positive cases in a screen among Chinese patients of non- SLC20A2 and non- PDGFB , which implied that PDGFRB mutation was not common in Chinese patients with IBGC.[14]
The second common cause is PDGFB , which has a mutational hot spot covering a length of 220-230 bp on the 2nd exon.
Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers.
Overall mutational spectrum of SLC20A2, PDGFB and PDGFRB in idiopathic basal ganglia calcification.
(c) By real-time PCR, the mRNA levels of transforming growth factor- [beta] (TGF-[beta]), platelet-derived growth factor subunit B (PDGFB), connective tissue growth factor (CTGF), fibronectin 1, and collagen 1A1 were determined in kidneys of anti-dsDNA IgG hybridoma cell-injected mice.
Table 8 demonstrates that gains of PDGFB (22q13), TP 73 (1p36.33), and SNRPN (15q12) were exclusively detected in tumors without these known molecular triggers.
In the current study, taking amplified genes occurring in more than 36% of the cases as a threshold (Table 4), the most common amplifications involve loci of well-described oncogenes related to the mitogen activated protein kinase pathway (MAPK), including FGR/SRC2 on 1p36.2 [right arrow] p36.1 (FGR--Gardner Rasheed feline sarcoma viral oncogene homolog, a protein tyrosine kinase), EGFR on 7p12.3 [right arrow] p12.1 (epidermal growth factor receptor, a protein tyrosine kinase), FGF4 on 11q13 (fibroblast growth factor 4, a classical activator of the MAPK pathway), and PDGFB on 22q13.1 (platelet-derived growth factor B [SIS], another classical activator of the MAPK pathway).
The most potentially important findings of the current study are the recurrent amplifications of PDGFB, TP73, and SNRPN occurring in those tumors without either of the common molecular triggers.
Amplification of PDGFB occurs exclusively in tumors without mutation of BRAF or expression of ret/PTC chimeras.