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Imaging Angiogenesis
Published in Martin G. Pomper, Juri G. Gelovani, Benjamin Tsui, Kathleen Gabrielson, Richard Wahl, S. Sam Gambhir, Jeff Bulte, Raymond Gibson, William C. Eckelman, Molecular Imaging in Oncology, 2008
Ambros J. Beer, Markus Schwaiger
Other interesting targets are the tumor endothelial markers (TEMs) 1 to 8, which display elevated expression in endothelial cells isolated from colorectal carcinoma. Further studies showed that TEMs are also upregulated in endothelial cells undergoing physiological angiogenesis in humans and mice. TEM 5 belongs to a group of adhesion G-protein-coupled receptors (GPCRs), which are involved in cell-cell and cell-matrix interactions. It has recently been shown that a soluble fragment of TEM 5 (sTEM 5) is shed by endothelial cells upon activation by growth factors. When sTEM 5 is degraded by MMP 9, a cryptic RGD-containing binding site is revealed, which upon binding to αvβ3 mediates endothelial cell survival (132). Imaging studies with radiolabeled sTEM 5 are awaited in the near future.
Clinical value of identifying genes that inhibit hepatocellular carcinomas
Published in Expert Review of Molecular Diagnostics, 2022
Ugo Testa, Elvira Pelosi, Germana Castelli
Zhang et al. performed an extensive analysis of genetic features of AFB1-associated HCC in a cohort of 49 patients collected in Qidong, a classic high-risk region of aflatoxin exposure in China [34]. The mutation load in these patients was higher than that reported in the general population of HCC patients; a typical mutagenic signature with a dominant mutation pattern of C > A transversions (signature 24) was observed in these samples; TP53, TERT, AXIN1, CTNNB1 and ADGRB1 were the most recurrent mutations: TP53 mutations occurred at a very high frequency (81.6%) and the major genotype was the R249S mutation [34]. Interestingly, 18.4% of cases displayed a mutation of the adhesion G protein-coupled receptor B1 (ADGRB1), a frequency much higher than in the general HCC population [34].
A Stargardt disease-like phenotype in GAS8-related primary ciliary dyskinesia
Published in Ophthalmic Genetics, 2022
Uncorrected visual acuity was 20/20 either eye and she had no visual complaints other than dry eye. Anterior segment examination was significant for blepharitis, decreased tear lake, and faint corneal stromal scars from prior refractive surgery. Posterior segment examination was significant for retinopathy resembling Stargardt disease. Comparison of multimodal images taken when she was 40 years old with current multimodal images (at 43 years ago) confirmed progressive retinal dystrophy (Figure 1). Full-field electroretinography (ISCEV standards) revealed decreased and delayed waveforms, photopic more than scotopic, consistent with cone-rod dysfunction. Whole exome sequencing with attention to ABCA4 did not reveal pathogenic variants in ABCA4. Two variants of uncertain significance were found in ADGRV1 (Adhesion G Protein-Coupled Receptor V1) - c.1849 G>A; p.Val617 Met and c.6994A>T; p.IIe2332Phe. However, parental segregation analysis testing showed both variants to be on a single allele (both in the father, neither in the mother) and thus not to be related to the retinal phenotype. In addition, the whole exome sequencing uncovered a homozygous exon 1 deletion of GAS8 (Growth Arrest Specific 8), molecularly confirming the diagnosis of primary ciliary dyskinesia. No other significant variants were uncovered.
C1q-like 1 is frequently up-regulated in lung adenocarcinoma and contributes to the proliferation and invasion of tumor cells
Published in Journal of Chemotherapy, 2021
Yu-Jun Gao, Feng Chen, Lian-Jun Zhang
C1q-like 1(C1QL1), as one member of C1q family/C1QL proteins, is initially cloned as an emotion-related gene and presents the highest expression level in brain. Moreover, C1QL1 is considered to be particularly crucial for neurons concerned with the harmony and modulation of motor control.6,7 C1QL1 can specifically bind to adhesion G-protein coupled receptor 3 and may participate in synaptic homeostasis, including synapse formation, maintenance and elimination.8,9 Sałkowska et al. revealed that C1QL1 presented markedly higher level in Th17 cells than that in the Th1, Th2, and Treg subtypes. C1QL1 protein is well associated with the function of Th17 cells and detection of this protein possess promising clinical application in identifying Th17 cell-related inflammation.10 Furthermore, recent studies have revealed that C1QL1 was identified as a prognostic biomarker of thyroid carcinoma11 and colorectal cancer.12 Besides, it has been reported by Qiu et al.12 that C1QL1 was up-regulated in colorectal cancer. These reports motivated us to study whether C1QL1 takes a part in other cancers, such as LUAD.