Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.7.10.2 (focal adhesion kinase)
 44,029 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Targeted deletion of focal adhesion kinase (fak) in the developing dorsal forebrain resulted in local disruptions of the cortical basement membrane located between the neuroepithelium and pia-meninges. At disruption sites, clusters of neurons invaded the marginal zone. Retraction of radial glial endfeet, midline fusion of brain hemispheres, and gliosis also occurred, similar to type II cobblestone lissencephaly as seen in congenital muscular dystrophy. Interestingly, targeted deletion of fak in neurons alone did not result in cortical ectopias, indicating that fak deletion from glia is required for neuronal mislocalization. Unexpectedly, fak deletion specifically from meningeal fibroblasts elicited similar cortical ectopias in vivo and altered laminin organization in vitro. These observations provide compelling evidence that FAK plays a key signaling role in cortical basement membrane assembly and/or remodeling. In addition, FAK is required within neurons during development because neuron-specific fak deletion alters dendritic morphology in the absence of lamination defects.
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PMID:FAK deficiency in cells contributing to the basal lamina results in cortical abnormalities resembling congenital muscular dystrophies. 1464 75

Hemangiopericytoma (HPC) is a rare sarcomatous tumor arising from pericytes, a support cell found in blood vessels. These tumors can occur throughout the body, particularly in the lower extremities and retroperitoneum. In rare circumstances, HPCs can arise from the meninges. In these cases, they behave similar to meningiomas, in particular angiomatous meningiomas, but tend to be more aggressive and are likely to recur. Treatment usually focuses on surgical resection and radiotherapy with possible inclusion of chemotherapy for control of recurrent disease. We describe a case of recurrent right temporal HPC that first manifested as a paraneoplastic syndrome of oncogenic osteomalacia. Despite maximum therapy, this patient experienced multiple recurrences of the tumor, and immunohistochemical analysis revealed overexpression of platelet-derived growth factor receptor, a member of the SRC-related tyrosine kinases. After multiple recurrences, the patient's tumor has been stable with treatment with monotherapy utilizing molecularly targeted therapy to SRC-related tyrosine kinases. This is the first case report of the treatment of recurrent meningeal HPC with molecularly targeted therapy to SRC-related tyrosine kinases.
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PMID:Treatment of Recurrent Intracranial Hemangiopericytoma with SRC-Related Tyrosine Kinase Targeted Therapy: A Case Report. 2074 Jan 66

While segmentation of the cerebellum is an indispensable step in many studies, its contrast is not clear because of the adjacent cerebrospinal fluid, meninges, and cerebra peduncle. Thus, various cerebellar segmentation methods, such as a deformable model or a template-based algorithm might exhibit incorrect segmentation of the venous sinuses and the cerebellar peduncle. In this study, we propose a fully automated procedure combining cerebellar tissue classification, a template-based approach, and morphological operations sequentially. The cerebellar region was defined approximately by removing the cerebral region from the brain mask. Then, the noncerebellar region was trimmed using a morphological operator and the brain-stem atlas was aligned to the individual brain to define the brain-stem area. The proposed method was validated with the well-known FreeSurfer and ITK-SNAP packages using the dice similarity index and recall and precision scores. As a result, the proposed method was significantly better than the other methods for the dice similarity index (0.93, FreeSurfer: 0.92, ITK-SNAP: 0.87) and precision (0.95, FreeSurfer: 0.90, ITK-SNAP: 0.93). Therefore, it could be said that the proposed method yielded a robust and accurate segmentation result. Moreover, additional postprocessing with the brain-stem atlas could improve its result.
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PMID:Automated Segmentation of Cerebellum Using Brain Mask and Partial Volume Estimation Map. 2606 May 4