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https://www.readbyqxmd.com/read/29324814/comprehensive-molecular-profiling-of-advanced-metastatic-olfactory-neuroblastomas
#1
Jasmina Topcagic, Rebecca Feldman, Anatole Ghazalpour, Jeffrey Swensen, Zoran Gatalica, Semir Vranic
Olfactory neuroblastoma (ONB) is a rare, locally aggressive, malignant neoplasm originating in the olfactory epithelium in the nasal vault. The recurrence rate of ONB remains high and there are no specific treatment guidelines for recurrent/metastatic ONBs. This study retrospectively evaluated 23 ONB samples profiled at Caris Life Sciences (Phoenix, Arizona) using DNA sequencing (Sanger/NGS [Illumina], n = 15) and gene fusions (Archer FusionPlex, n = 6), whole genome RNA microarray (HumanHT-12 v4 beadChip, Illumina, n = 4), gene copy number assays (chromogenic and fluorescent in situ hybridization), and immunohistochemistry...
2018: PloS One
https://www.readbyqxmd.com/read/29317492/a-protein-interaction-network-centered-on-leucine-rich-repeats-and-immunoglobulin-like-domains-1-lrig1-regulates-growth-factor-receptors
#2
Mahmood Faraz, Carl Herdenberg, Camilla Holmlund, Roger Henriksson, Håkan Hedman
Leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1) is a tumor suppressor and a negative regulator of several receptor tyrosine kinases (RTKs). The molecular mechanisms by which LRIG1 mediates its tumor suppressor effects and regulates RTKs remain incompletely understood. Here, we performed a yeast two-hybrid screen to identify novel LRIG1-interacting proteins and mined data from the BioPlex (biophysical interactions of ORFeome-based complexes) protein interaction data repository. The putative LRIG1 interactors identified in the screen were functionally evaluated using a triple co-transfection system in which HEK293 cells were co-transfected with platelet-derived growth factor receptor alpha (PDGFRA), LRIG1, and shRNAs against the identified LRIG1 interactors...
January 9, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29316748/-preliminary-study-of-exon-sequence-in-pneumoconiosis-and-pneumoconiosis-complicated-with-lung-cancer-using-high-throughput-sequencing-technology
#3
M F Jiang, L Li, Z Wang, C L Zhang, H Zhang
Objective: The detection and analysis of exon mutations of pneumoconiosis and pneumoco-niosis complicated with lung cancer provide reference evidence for screening, clinical diagnosis and treatment and prognosis in pneumoconiosis and pneumoconiosis complicated with lung cancer. Methods: The pathologi-cal tissue samples from 3 pneumoconiosis patients and 3 pneumoconiosis complicated with lung cancer pa-tients were collected. Genomic DNA was extracted and library was prepared. Exomes of the pathological tissue samples in pneumoconiosis patients and pneumoconiosis complicated with lung cancer patients were se-quenced using Ion Torrent PGM platform...
November 20, 2017: Chinese Journal of Industrial Hygiene and Occupational Diseases
https://www.readbyqxmd.com/read/29312620/copy-number-variations-in-atypical-fibroxanthomas-and-pleomorphic-dermal-sarcomas
#4
Doris Helbig, Alexander Quaas, Cornelia Mauch, Sabine Merkelbach-Bruse, Reinhard Büttner, Michael Emberger, Marion Wobser, Vanessa Rüsseler, Katharina Pütz, Elke Binot, Jan Rehker, Jan Budczies, Michaela Angelika Ihle
Atypical fibroxanthomas (AFX) and pleomorphic dermal sarcomas (PDS) are frequent cutaneous sarcomas typically arising on sun-exposed skin in elderly patients. In contrast to AFX, which generally do not recur after complete excision, PDS locally recur in up to 50% and metastasize in up to 20%. We recently detected characteristic UV-induced TP53 mutations as potential driver mutation in almost all PDS investigated as well as activating PIK3CA and RAS gene mutations in around one third of our tumors representing targets for personalized treatments in patients with unresectable or metastasized PDS...
December 12, 2017: Oncotarget
https://www.readbyqxmd.com/read/29310833/myeloid-neoplasm-with-eosinophilia-associated-with-isolated-extramedullary-fip1l1-pdgfra-rearrangement
#5
Talal Hilal, Veena Fauble, Rhett P Ketterling, Katalin Kelemen
Myeloid neoplasms with eosinophilia associated with PDGFRA rearrangement are very responsive to tyrosine kinase inhibitors (TKIs). Herein, we report a case of a 53-year-old man with eosinophilia and a well-differentiated extramedullary myeloid tumor with evidence of FIP1L1/PDGFRA rearrangement by fluorescent in situ hybridization in the extramedullary tissue. His bone marrow evaluation revealed a hypercellular marrow with eosinophilia but without evidence of a FIP1L1/PDGFRA rearrangement. The patient was treated with imatinib at a dose of 100 mg daily and responded with normalization of his peripheral eosinophil count...
January 2018: Cancer Genetics
https://www.readbyqxmd.com/read/29305721/paragangliomas-arise-through-an-autonomous-vasculo-angio-neurogenic-program-inhibited-by-imatinib
#6
Fabio Verginelli, Silvia Perconti, Simone Vespa, Francesca Schiavi, Sampath Chandra Prasat, Paola Lanuti, Alessandro Cama, Lorenzo Tramontana, Diana Liberata Esposito, Simone Guarnieri, Artenca Sheu, Mattia Russel Pantalone, Rosalba Florio, Annalisa Morgano, Cosmo Rossi, Giuseppina Bologna, Marco Marchisio, Andrea D'Argenio, Elisa Taschin, Rosa Visone, Giuseppe Opocher, Angelo Veronese, Carlo T Paties, Vinalogu K Rajasekhar, Cecilia Söderberg-Nauclér, Mario Sanna, Lavinia Vittoria Lotti, Renato Mariani-Costantini
Tumours can be viewed as aberrant tissues or organs sustained by tumorigenic stem-like cells that engage into dysregulated histo/organogenetic processes. Paragangliomas, prototypical organoid tumours constituted by dysmorphic variants of the vascular and neural tissues found in normal paraganglia, provide a model to test this hypothesis. To understand the origin of paragangliomas, we built a biobank comprising 77 cases, 18 primary cultures, 4 derived cell lines, 80 patient-derived xenografts and 11 cell-derived xenografts...
January 5, 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/29303368/imatinib-for-the-treatment-of-hypereosinophilic-syndromes
#7
Grzegorz Helbig
Hypereosinophilic syndromes (HES) encompass a group of disorders defined by sustained peripheral blood hypereosinophilia >1500/mm3 and evidence of eosinophilia-associated organ impairment. Approximately 10% of HES patients may harbor a cryptic deletion on chromosome 4 leading to formation of the FIP1L1-PDGFRA (F/P) fusion gene; these patients are diagnosed as F/P-mutated myeloid/lymphoid neoplasms with eosinophilia (MLN-eo). The results of numerous studies on the efficacy of tyrosine kinase inhibitor, imatinib mesylate (IM), in patients with HES have been published in the literature...
January 5, 2018: Expert Review of Clinical Immunology
https://www.readbyqxmd.com/read/29290993/microrna-34c-acts-as-a-bidirectional-switch-in-the-maturation-of-insulin-producing-cells-derived-from-mesenchymal-stem-cells
#8
Chunyu Bai, Yuhua Gao, Xiangyang Zhang, Wancai Yang, Weijun Guan
miRNAs regulate insulin secretion, pancreatic development, and beta-cell differentiation. However, their function in the differentiation of IPCs from MSCs is poorly understood. In this study, to screen for miRNAs and their targets that function during the formation of IPCs from MSCs, we examined the miRNA expression profiles of MSCs and IPCs using RNA-seq and qPCR to confirm the above results. We found that miR-34c exhibited transient upregulation at an early stage of the formation of IPCs derived from MSCs...
December 5, 2017: Oncotarget
https://www.readbyqxmd.com/read/29290970/single-nucleotide-polymorphisms-as-prognostic-and-predictive-biomarkers-in-renal-cell-carcinoma
#9
Carmen Garrigós, Marta Espinosa, Ana Salinas, Ignacio Osman, Rafael Medina, Miguel Taron, Sonia Molina-Pinelo, Ignacio Duran
Despite major advances in the knowledge of the molecular basis of renal cell carcinoma, prognosis is still defined using clinical and pathological parameters. Moreover, no valid predictive biomarkers exist to help us selecting the best treatment for each patient. With these premises, we aimed to analyse the expression and to determine the prognostic and predictive value of 64 key single nucleotide polymorphisms in 18 genes related with angiogenesis or metabolism of antiangiogenics in two cohorts of patients with localized and advanced renal cell cancer treated at our institution...
December 5, 2017: Oncotarget
https://www.readbyqxmd.com/read/29259861/inflammatory-fibroid-polyp-of-the-gastric-antrum-presenting-as-hypovolemic-shock-case-report-and-literature-review
#10
Kyle D Klingbeil, Alexandra Balaban, Raymond M Fertig, A Caresse Gamret, Yuna Gong, Carolyn Torres, Shevonne S Satahoo
Inflammatory fibroid polyps (IFP) are an extremely rare entity that arise within the submucosa of the gastrointestinal tract, and represent less than 0.1% of all gastric polyps. They are most commonly localized to the gastric antrum, small intestines and recto-sigmoid colon. IFPs are most commonly found incidentally upon endoscopic evaluation in the absence of symptoms. Presenting symptoms depend on the location of the tumor, although polyps located in the stomach most commonly present with epigastric pain and early satiety...
November 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/29251594/lrp1-regulates-peroxisome-biogenesis-and-cholesterol-homeostasis-in-oligodendrocytes-and-is-required-for-proper-cns-myelin-development-and-repair
#11
Jing-Ping Lin, Yevgeniya A Mironova, Peter Shrager, Roman J Giger
Low-density lipoprotein receptor-related protein-1 (LRP1) is a large endocytic and signaling molecule broadly expressed by neurons and glia. In adult mice, global inducible (Lrp1flox/flox;CAG-CreER) or oligodendrocyte (OL)-lineage specific ablation (Lrp1flox/flox;Pdgfra-CreER) of Lrp1 attenuates repair of damaged white matter. In oligodendrocyte progenitor cells (OPCs), Lrp1 is required for cholesterol homeostasis and differentiation into mature OLs. Lrp1 deficient OPC/OLs show a strong increase in the sterol-regulatory element-binding protein-2, yet are unable to maintain normal cholesterol levels, suggesting more global metabolic deficits...
December 18, 2017: ELife
https://www.readbyqxmd.com/read/29249665/fzd4-marks-lateral-plate-mesoderm-and-signals-with-norrin-to-increase-cardiomyocyte-induction-from-pluripotent-stem-cell-derived-cardiac-progenitors
#12
Charles Yoon, Hannah Song, Ting Yin, Damaris Bausch-Fluck, Andreas P Frei, Steven Kattman, Nicole Dubois, Alec D Witty, Johannes A Hewel, Hongbo Guo, Andrew Emili, Bernd Wollscheid, Gordon Keller, Peter W Zandstra
The identification of cell surface proteins on stem cells or stem cell derivatives is a key strategy for the functional characterization, isolation, and understanding of stem cell population dynamics. Here, using an integrated mass spectrometry- and microarray-based approach, we analyzed the surface proteome and transcriptome of cardiac progenitor cells (CPCs) generated from the stage-specific differentiation of mouse and human pluripotent stem cells. Through bioinformatics analysis, we have identified and characterized FZD4 as a marker for lateral plate mesoderm...
December 13, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/29239034/succinate-dehydrogenase-sdh-deficient-neoplasia
#13
REVIEW
Anthony J Gill
The succinate dehydrogenase (SDH) complex is a key respiratory enzyme composed of four subunits: SDHA, SDHB, SDHC and SDHD. Remarkably, immunohistochemistry for SDHB becomes negative whenever there is bi-alleic inactivation of any component of SDH, which is very rare in the absence of syndromic disease. Therefore, loss of SDHB immunohistochemistry serves as a marker of syndromic disease, usually germline mutation of one of the SDH subunits. Tumours which show loss of SDHB expression are termed succinate dehydrogenase-deficient...
January 2018: Histopathology
https://www.readbyqxmd.com/read/29230039/gli1-identifies-osteogenic-progenitors-for-bone-formation-and-fracture-repair
#14
Yu Shi, Guangxu He, Wen-Chih Lee, Jennifer A McKenzie, Matthew J Silva, Fanxin Long
Bone formation in mammals requires continuous production of osteoblasts throughout life. A common molecular marker for all osteogenic mesenchymal progenitors has not been identified. Here, by lineage-tracing experiments in fetal or postnatal mice, we discover that Gli1+ cells progressively produce osteoblasts in all skeletal sites. Most notably, in postnatal growing mice, the Gli1+ cells residing immediately beneath the growth plate, termed here "metaphyseal mesenchymal progenitors" (MMPs), are essential for cancellous bone formation...
December 11, 2017: Nature Communications
https://www.readbyqxmd.com/read/29227120/-molecular-mechanisms-of-primary-and-secondary-resistance-molecular-genetic-features-and-characteristics-of-kit-pdgfra-non-mutated-gists
#15
Alena Kalfusová, Roman Kodet
Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract. Most of them arise due to activating mutations in KIT (75 - 85 %) or PDGFRA (less than 10 %) genes. Identification of the activating mutations in KIT and PDGFRA genes, which code for receptor tyrosine kinases (RTKs), has improved the outcome of targeted therapy of metastatic, unresectable or recurrent GISTs. Primary and/or secondary resistance represents a significant problem in the targeted therapy by Imatinib mesylate (IM) in patients with GIST...
2017: Ceskoslovenská Patologie
https://www.readbyqxmd.com/read/29226075/prediction-of-target-genes-for-mir-140-5p-in-pulmonary-arterial-hypertension-using-bioinformatics-methods
#16
Fangwei Li, Wenhua Shi, Yixin Wan, Qingting Wang, Wei Feng, Xin Yan, Jian Wang, Limin Chai, Qianqian Zhang, Manxiang Li
The expression of microRNA (miR)-140-5p is known to be reduced in both pulmonary arterial hypertension (PAH) patients and monocrotaline-induced PAH models in rat. Identification of target genes for miR-140-5p with bioinformatics analysis may reveal new pathways and connections in PAH. This study aimed to explore downstream target genes and relevant signaling pathways regulated by miR-140-5p to provide theoretical evidences for further researches on role of miR-140-5p in PAH. Multiple downstream target genes and upstream transcription factors (TFs) of miR-140-5p were predicted in the analysis...
December 2017: FEBS Open Bio
https://www.readbyqxmd.com/read/29220298/gastrointestinal-stromal-tumors
#17
Margaret von Mehren, Heikki Joensuu
GI stromal tumors (GISTs) are neoplasms with a varying malignancy potential ranging from virtually indolent tumors to rapidly progressing cancers. GISTs occur throughout the intestinal tract, and most harbor an activating mutation in either KIT or platelet-derived growth factor A ( PDGFRA). Diagnosis is made using immunohistochemistry, but molecular testing with mutation analysis is paramount for selection of appropriate therapy. Most small GISTs are cured with surgery. Tyrosine kinase inhibitor (TKI) therapy has led to substantial improvements in survival, both for patients with localized GIST and those with advanced disease...
December 8, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/29212173/comprehensive-genomic-sequencing-detects-important-genetic-differences-between-right-sided-and-left-sided-colorectal-cancer
#18
Yoshifumi Shimada, Hitoshi Kameyama, Masayuki Nagahashi, Hiroshi Ichikawa, Yusuke Muneoka, Ryoma Yagi, Yosuke Tajima, Takuma Okamura, Masato Nakano, Jun Sakata, Takashi Kobayashi, Hitoshi Nogami, Satoshi Maruyama, Yasumasa Takii, Tetsu Hayashida, Hiromasa Takaishi, Yuko Kitagawa, Eiji Oki, Tsuyoshi Konishi, Fumio Ishida, Shin-Ei Kudo, Jennifer E Ring, Alexei Protopopov, Stephen Lyle, Yiwei Ling, Shujiro Okuda, Takashi Ishikawa, Kohei Akazawa, Kazuaki Takabe, Toshifumi Wakai
Objectives: Anti-epidermal growth factor receptor (EGFR) therapy has been found to be more effective against left-sided colorectal cancer (LCRC) than right-sided colorectal cancer (RCRC). We hypothesized that RCRC is more likely to harbor genetic alterations associated with resistance to anti-EGFR therapy and tested this using comprehensive genomic sequencing. Materials and methods: A total of 201 patients with either primary RCRC or LCRC were analyzed. We investigated tumors for genetic alterations using a 415-gene panel, which included alterations associated with resistance to anti-EGFR therapy: TK receptors (ERBB2, MET, EGFR, FGFR1, and PDGFRA), RAS pathway (KRAS, NRAS, HRAS, BRAF, and MAPK2K1), and PI3K pathway (PTEN and PIK3CA)...
November 7, 2017: Oncotarget
https://www.readbyqxmd.com/read/29207159/downregulation-of-mir%C3%A2-146a-promotes-proliferation-and-migration-of-aob%C3%A2-treated-embryoid-body-via-pdgfra-induction
#19
Lejing Li, Shoulian Zhu, Ying Li, Wenyuan Cao, Xiaoli Qiao
Antioxidant of bamboo leaves (AOB) has been proven to have antioxidant activity and an inhibitory effect on free radicals that induce deterioration of macromolecules. The multi‑target regulation of microRNAs (miRs) in the complicated process of vasculogenesis and angiogenesis lead to the use of miRNA therapy in vascular development. In the present study, the role of miRNAs on early embryo vascular development upon AOB stimulation was investigated. For this purpose, mouse embryonic stem cells were spontaneously differentiated as embryoid bodies (EBs) and were examined by phase contrast microscopy...
November 22, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29205322/a-targeted-sequencing-panel-identifies-rare-damaging-variants-in-multiple-genes-in-the-cranial-neural-tube-defect-anencephaly
#20
M Ishida, T Cullup, C Boustred, C James, J Docker, C English, GOSgene, N Lench, A J Copp, G E Moore, N D E Greene, P Stanier
Neural tube defects (NTDs) affecting the brain (anencephaly) are lethal before or at birth, whereas lower spinal defects (spina bifida) may lead to life-long neurological handicap. Collectively NTDs rank among the most common birth defects worldwide. This study focuses on anencephaly, which despite having a similar frequency to spina bifida and being the most common type of NTD observed in mouse models, has had more limited inclusion in genetic studies. A genetic influence is strongly implicated in determining risk of NTDs and a molecular diagnosis is of fundamental importance to families both in terms of understanding the origin of the condition and for managing future pregnancies...
December 4, 2017: Clinical Genetics
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