PDGFRA


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PDGFRA

A gene on chromosome 4q12 that encodes a tyrosine-protein kinase which acts as a cell surface receptor for PDGFA, PDGFB and PDGFC, playing a key role in regulating embryonic development, survival and chemotaxis and, depending on context, up- or downregulates cell proliferation and migration.
References in periodicals archive ?
Screening for diverse PDGFRA or PDGFRB fusion genes is facilitated by generic quantitative reverse transcriptase polymerase chain reaction analysis," Haematologica, vol.
As shown in Figure 2A, PDGFRA is highly expressed in the surrounding cells of the spermatic basement membrane (including Sertoli cells and spermatogonial stem cells) in 2-days testicular tissues.
Se han descrito casos de pacientes con resistencia a imatinib, en los que se han identificado otras mutaciones en el gen que codifica para el PDGFRA, en donde se vienen estudiando como alternativa terapeutica, otros inhibidores de la tirosina quinasa, como desatinib y nilotinib (107).
An interesting aspect in the management of PDGFRA rearrangement of HES was the variability of the imatinib dosage.
Paediatric glioma tumours that did not have the PDGFRA alteration were nevertheless found to have associated genes switched on, suggesting that this biological pathway is a key to the development of this childhood cancer.
Christopher Corless, chief of surgical pathology at Oregon Health and Science University, Portland, and others have begun to further characterize mutations according to exons within the c-kit and PDGFRA genes.
Further study revealed that 5%-10% of GISTs have a closely related mutation in the PDGFRA gene, and about 12%-15% are unrelated to these mutations and therefore characterized as "wild type" or "wild card" GISTs.
Many of the "client proteins" of Hsp90 - such as ALK, AKT, BCR-ABL, BRAF, KIT, MET, EGFR, FLT3, HER2, HIF-1alpha, PDGFRA, VEGFR are the targets of clinically validated cancer drugs.
Genetic analysis indicated a V824V synonymous point mutation in exon 18 of PDGFRA gene, with the valine codon GTC synonymous mutation of glucose tolerance test [Figure 3]c.
242) It is interesting to note that both CD117 and DOG1 are expressed in solid pseudopapillary neoplasms of the pancreas at high frequencies, which is not associated with KIT or PDGFRA mutations.
2) About 10% of the GISTs contain mutations in PDGFRA (platelet derived growth factor receptor-alpha) and 7-10% of the GISTs are wild type for KIT and PDGFRA.
Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations.