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Applications of imaging genomics beyond oncology
Published in Ruijiang Li, Lei Xing, Sandy Napel, Daniel L. Rubin, Radiomics and Radiogenomics, 2019
Xiaohui Yao, Jingwen Yan, Li Shen
GWAS has been performed in case-control studies to evaluate the associations of genetic variations such as SNPs with AD using categorical diagnosis as the phenotype. These studies have identified a number of susceptible loci, including complement C3b/C4b receptor 1 (CR1), clusterin (CLU), and phosphatidylinositol binding clathrin assembly protein (PICALM) [27], epistatic interaction between transferrin (TF) and hemochromatosis gene (HFE) [28], apolipoprotein E (APOE), and methylenetetrahydrofolate dehydrogenase (NADP + dependent) 1 like (MTHFD1L) [29], CR1 [30], membrane-spanning 4-domain family, subfamily A (MS4A) gene cluster [31], ATP binding cassette subfamily A member 7 (ABCA7), membrane spanning 4-domains A6A (MS4A6A)/membrane spanning 4-domains A4E (MS4A4E), Ephrin receptor A1 (EPHA1), CD33 molecule (CD33) and CD2 associated protein (CD2AP) [32], bridging integrator 1 (BIN1) [33], MS4A4/MS4A6E, CD2AP, CD33, and EPHA [34].
Nanotechnology-Mediated Strategy for the Treatment of Neuropathic Pain
Published in Cherry Bhargava, Amit Sachdeva, Nanotechnology, 2020
Pankaj Prashar, Ankita Sood, Anamika Gautam, Pardeep Kumar Sharma, Bimlesh Kumar, Indu Melkani, Sakshi Panchal, Sachin Kumar Singh, Monica Gulati, Narendra Kumar Pandey, Linu Dash, Anupriya, Varimadugu Bhanukirankumar Reddy
Eph receptor tyrosine kinases and their ligands include ephrins in many areas of growth, such as patterning of the tissue, angiogenesis, and formation of synapses. The laminae I-III and the tiny and mid-sized DRG nerves are found in many Eph and ephrin-receptor proteins. EphB receptors and ephrins amplify the neuronal behavior of the spinal cord, thus inducing sensory disturbances of NMDA-dependent pain disorders indicating a significant role of ephrin in spinal cords physiologic and pathological pain regulation. Eph B2 and Eph B1 isoforms in neurons of the spinal cord are increased in spinal nerve damage (Li-Na Yu et al. 2017). Administration of Eph B2 siRNA decreased production of Eph B2 and inhibited mechanical allodynia caused by nerve damage. Activation of the EphB1 and ephrin B2 signaling pathway may also be suspected in NP. There is a link between the production of hyperalgesia in CCI and dorsal rhizotomy (DR) models that is due to an increase in the expression of Eph B1 and EphB receptor proteins in DRG neurons and the dorsal horn. After nerve damage, NP is caused by the stimulation and transmission of EphB receptors in DRG and dorsal horn (Khangura et al. 2019). EphB-receptor antagonists’ intrathecal administration has also been shown to prevent the induction and maintenance of a mechanical allodynia and thermal hyperalgesia due to nerve injury. Also, EphB antagonists blocked hyperactivity of nociceptive small DRG neurons and dorsal horn neurons. In addition, intrathecal injection of EphB activator in non-injured animals caused thermal hypersensitivity and decreased the long-term potentiation (LTP) threshold. Therefore, the increased regulation of ephrinB1 and EphB1 receptor proteins after nerve injury will enhance the excitability and plasticity of the neurons at spinal level that contribute to NP induction. Increased EphrinB1/EphB signaling results in increased PKCμ, NMDA, MAPK, P13 K, and p-AKT phosphorylation. All of these leads to enhanced excitability of nociceptive neurons and synaptic plasticity that are basic pathways of NP induction (Lombardi 2017).
Review on the current treatment status of vein of Galen malformations and future directions in research and treatment
Published in Expert Review of Medical Devices, 2021
Panagiotis Primikiris, Georgios Hadjigeorgiou, Maria Tsamopoulou, Alessandra Biondi, Christina Iosif
In the study of Duran et al. [137], the reported EPHB4 missense mutations altered some of the amino acid residues in the tyrosine kinase domain of the vein-specific EPHB4 receptor [109,137]. Interestingly, all patients affected by EPHB4 mutations suffered from choroidal VOGM. There were also seven non-VOGM family members who carried these mutations and three of them presented a cutaneous vascular pathology (port-wine stain and capillary malformations). The above findings suggest a mechanism of incomplete penetrance and variable expressivity for EPHB4 mutations. Duran et al. also reported mutations in the CLDN14 gene (P= 6.44 × 10−7) in approximately 5% of VOGM. The CLDN14 gene encodes the tight junction protein, Claudin-14. It is also to point out that non-VOGM family members of CLDN14-mutated probands were also diagnosed with cutaneous vascular pathology. Using Ingenuity Pathway Analysis, which analyzes common shared signaling pathways, it was also identified in this study that the most commonly affected pathway by the de novo and rare transmitted mutations was the Ephrin receptor signaling pathway. .