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https://www.readbyqxmd.com/read/28919262/pdgfra-is-not-essential-for-the-derivation-and-maintenance-of-mouse-extraembryonic-endoderm-stem-cell-lines
#1
Jiangwei Lin, Mona Khan, Bolek Zapiec, Peter Mombaerts
Extraembryonic endoderm stem (XEN) cell lines can be derived and maintained in vitro and reflect the primitive endoderm lineage. Platelet-derived growth factor receptor alpha (PDGFRA) is thought to be essential for the derivation and maintenance of mouse XEN cell lines. Here, we have re-evaluated this requirement for PDGFRA. We derived multiple PDGFRA-deficient XEN cell lines from postimplantation and preimplantation embryos of a PDGFRA-GFP knockout strain. We also converted PDGFRA-deficient embryonic stem cell lines into XEN cell lines chemically by transient culturing with retinoic acid and Activin A...
September 8, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/28912153/comprehensive-genomic-profiling-of-282-pediatric-low-and-high-grade-gliomas-reveals-genomic-drivers-tumor-mutational-burden-and-hypermutation-signatures
#2
Adrienne Johnson, Eric Severson, Laurie Gay, Jo-Anne Vergilio, Julia Elvin, James Suh, Sugganth Daniel, Mandy Covert, Garrett M Frampton, Sigmund Hsu, Glenn J Lesser, Kimberly Stogner-Underwood, Ryan T Mott, Sarah Z Rush, Jennifer J Stanke, Sonika Dahiya, James Sun, Prasanth Reddy, Zachary R Chalmers, Rachel Erlich, Yakov Chudnovsky, David Fabrizio, Alexa B Schrock, Siraj Ali, Vincent Miller, Philip J Stephens, Jeffrey Ross, John R Crawford, Shakti H Ramkissoon
BACKGROUND: Pediatric brain tumors are the leading cause of death for children with cancer in the U.S. Incorporating next-generation sequencing data for both pediatric low-grade (pLGGs) and high-grade gliomas (pHGGs) can inform diagnostic, prognostic, and therapeutic decision-making. MATERIALS AND METHODS: We performed comprehensive genomic profiling on 282 pediatric gliomas (157 pHGGs, 125 pLGGs), sequencing 315 cancer-related genes and calculating the tumor mutational burden (TMB; mutations per megabase [Mb])...
September 14, 2017: Oncologist
https://www.readbyqxmd.com/read/28885361/angioimmunoblastic-t-cell-lymphoma-and-hypereosinophilic-syndrome-with-fip1l1-pdgfra-fusion-gene-effectively-treated-with-imatinib-a-case-report
#3
Masayo Yamamoto, Katsuya Ikuta, Yasumichi Toki, Mayumi Hatayama, Motohiro Shindo, Yoshihiro Torimoto, Toshikatsu Okumura
RATIONALE: Hypereosinophilic syndrome (HES) is a rare disorder characterized by hypereosinophilia and organ damage. Some cases of HES are caused by the FIP1L1/PDGFRA fusion gene and respond to imatinib. FIP1L1/PDGFRA-positive HES occasionally evolves into chronic eosinophilic leukemia or into another form of myeloproliferative neoplasm; however, the development of a malignant lymphoma is very rare. We present a rare case of angioimmunoblastic T-cell lymphoma (AITL) and HES with the FIP1L1/PDGFRA gene rearrangement...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28852847/distinct-molecular-profile-of-diffuse-cerebellar-gliomas
#4
Masashi Nomura, Akitake Mukasa, Genta Nagae, Shogo Yamamoto, Kenji Tatsuno, Hiroki Ueda, Shiro Fukuda, Takayoshi Umeda, Tomonari Suzuki, Ryohei Otani, Keiichi Kobayashi, Takashi Maruyama, Shota Tanaka, Shunsaku Takayanagi, Takahide Nejo, Satoshi Takahashi, Koichi Ichimura, Taishi Nakamura, Yoshihiro Muragaki, Yoshitaka Narita, Motoo Nagane, Keisuke Ueki, Ryo Nishikawa, Junji Shibahara, Hiroyuki Aburatani, Nobuhito Saito
Recent studies have demonstrated that tumor-driving alterations are often different among gliomas that originated from different brain regions and have underscored the importance of analyzing molecular characteristics of gliomas stratified by brain region. Therefore, to elucidate molecular characteristics of diffuse cerebellar gliomas (DCGs), 27 adult, mostly glioblastoma cases were analyzed. Comprehensive analysis using whole-exome sequencing, RNA sequencing, and Infinium methylation array (n = 17) demonstrated their distinct molecular profile compared to gliomas in other brain regions...
August 29, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28836293/genetic-driver-mutations-define-the-expression-signature-and-microenvironmental-composition-of-high-grade-gliomas
#5
C J Herting, Z Chen, K L Pitter, F Szulzewsky, I Kaffes, M Kaluzova, J C Park, P J Cimino, C Brennan, B Wang, D Hambardzumyan
High-grade gliomas (HGG), including glioblastomas, are characterized by invasive growth, resistance to therapy, and high inter- and intra-tumoral heterogeneity. The key histological hallmarks of glioblastoma are pseudopalisading necrosis and microvascular proliferation, which allow pathologists to distinguish glioblastoma from lower-grade gliomas. In addition to being genetically and molecularly heterogeneous, HGG are also heterogeneous with respect to the composition of their microenvironment. The question of whether this microenvironmental heterogeneity is driven by the molecular identity of the tumor remains controversial...
August 24, 2017: Glia
https://www.readbyqxmd.com/read/28831081/egfr-and-pdgfra-co-expression-and-heterodimerization-in-glioblastoma-tumor-sphere-lines
#6
Debyani Chakravarty, Alicia M Pedraza, Jesse Cotari, Angela H Liu, Diana Punko, Aushim Kokroo, Jason T Huse, Gregoire Altan-Bonnet, Cameron W Brennan
Concurrent amplifications of EGFR and PDGFRA have been reported in up to 5% of glioblastoma (GBM) and it remains unclear why such independent amplification events, and associated receptor overexpression, would be adaptive during glioma evolution. Here, we document that EGFR and PDGFRA protein co-expression occurs in 37% of GBM. There is wide cell-to-cell variation in the expressions of these receptor tyrosine kinases (RTKs) in stable tumor sphere lines, frequently defining tumor cell subpopulations with distinct sensitivities to growth factors and RTK inhibitors...
August 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28820749/surgical-pathology-of-gastrointestinal-stromal-tumors-practical-implications-of-morphologic-and-molecular-heterogeneity-for-precision-medicine
#7
Gregory W Charville, Teri A Longacre
Gastrointestinal stromal tumor (GIST), the most common mesenchymal neoplasm of the gastrointestinal tract, exhibits diverse histologic and clinical manifestations. With its putative origin in the gastrointestinal pacemaker cell of Cajal, GIST can arise in association with any portion of the tubular gastrointestinal tract. Morphologically, GISTs are classified as spindled or epithelioid, though each of these subtypes encompasses a broad spectrum of microscopic appearances, many of which mimic other histologic entities...
August 17, 2017: Advances in Anatomic Pathology
https://www.readbyqxmd.com/read/28816991/a-case-report-of-tracheal-inflammatory-myofibroblastic-tumor-in-a-34-week-pregnant-woman-misdiagnosed-with-asthma
#8
Xiaochen Li, Juan Li, Xiaoling Rao, Qilin Ao, Xiaopei Cao, Yali Huang, Shengding Zhang, Xiaoyu Fang, Xiansheng Liu, Min Xie
RATIONALE: Inflammatory myofibroblastic tumor (IMT) is an uncommon neoplastic entity with a tendency of local recurrence and a low risk of distant metastasis. Involvement of trachea is extremely rare. PATIENT CONCERNS: A 34-week pregnant woman previously diagnosed with asthma for 2 months was admitted with persistent wheezing and hemoptysis. A computed tomography scan and bronchoscopy revealed a gigantic polyp in the trachea. DIAGNOSES: Tracheal inflammatory myofibroblastic tumor...
August 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28814615/single-cell-gene-expression-of-the-bovine-blastocyst
#9
Veronica M Negrón-Pérez, Yanping Zhang, Peter J Hansen
The first two differentiation events in the blastocyst result in three cell types - epiblast, trophectoderm (TE), and hypoblast. The purpose here was to identify molecular markers for each cell type in the bovine and evaluate differences in gene expression among individual cells of each lineage. The cDNA from 67 individual cells from dissociated blastocysts was used to determine transcript abundance for 96 genes implicated as cell lineage markers in other species or potentially involved in developmental processes...
August 16, 2017: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/28792659/molecular-alterations-in-pediatric-brainstem-gliomas
#10
Mikaela Porkholm, Anna Raunio, Reetta Vainionpää, Tarja Salonen, Juha Hernesniemi, Leena Valanne, Jarno Satopää, Atte Karppinen, Minna Oinas, Olli Tynninen, Virve Pentikäinen, Sanna-Maria Kivivuori
BACKGROUND: Diffuse intrinsic pontine gliomas (DIPGs) have a dismal prognosis. Previously, diagnosis was based on a typical clinical presentation and magnetic resonance imaging findings. After the start of the era of biopsies, DIPGs bearing H3 K27 mutations have been reclassified into a novel entity, diffuse midline glioma, based on the presence of this molecular alteration. However, it is not well established how clinically diagnosed DIPG overlap with H3 K27-mutated diffuse midline gliomas, and whether rare long-term survivors also belong to this group...
August 9, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28780584/platelet-derived-growth-factor-alpha-pdgfr%C3%AE-induces-the-activation-of-cardiac-fibroblasts-by-activating-c-kit
#11
Lexun Wang, Yuan Yue, Xiao Yang, Tian Fan, Bo Mei, Jian Hou, Mengya Liang, Guangxian Chen, Zhongkai Wu
BACKGROUND Enhanced platelet-derived growth factor receptor a (PDGFRα) signaling pathway activity leads to cardiac fibrosis. However, because of the pleiotropic effects of PDGFR signaling, its role in mediating the cardiac fibrotic response remains poorly understood. This study aimed to investigate the regulatory effect of c-Kit in cardiac fibroblasts activated by PDGFRa signaling. MATERIAL AND METHODS A cardiac fibrosis mice model was induced using isoproterenol, and the heart tissues of mice were tested through western blotting and real-time quantitative PCR (RT-qPCR)...
August 6, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28768491/succinate-dehydrogenase-deficiency-in-a-pdgfra-mutated-gist
#12
Martin G Belinsky, Kathy Q Cai, Yan Zhou, Biao Luo, Jianming Pei, Lori Rink, Margaret von Mehren
BACKGROUND: Most gastrointestinal stromal tumors (GISTs) harbor mutually exclusive gain of function mutations in the receptor tyrosine kinase (RTK) KIT (70-80%) or in the related receptor PDGFRA (~10%). These GISTs generally respond well to therapy with the RTK inhibitor imatinib mesylate (IM), although initial response is genotype-dependent. An alternate mechanism leading to GIST oncogenesis is deficiency in the succinate dehydrogenase (SDH) enzyme complex resulting from genetic or epigenetic inactivation of one of the four SDH subunit genes (SDHA, SDHB, SDHC, SDHD, collectively referred to as SDHX)...
August 2, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28760855/dual%C3%A2-targeting%C3%A2-of%C3%A2-insulin%C3%A2-receptor%C3%A2-and%C3%A2-kit%C3%A2-in%C3%A2-imatinib-resistant%C3%A2-gastrointestinal%C3%A2-stromal%C3%A2-tumors
#13
Weicai Chen, Ye Kuang, Hai-Bo Qiu, Zhifa Cao, Yuqing Tu, Qing Sheng, Grant Eilers, Quan He, Hai-Long Li, Meijun Zhu, Yuexiang Wang, Rongqing Zhang, Yeqing Wu, Fanguo Meng, Jonathan A Fletcher, Wen-Bin Ou
Oncogenic KIT or PDGFRA receptor tyrosine kinase (RTK) mutations are compelling therapeutic targets in gastrointestinal stromal tumors (GIST), and treatment with the KIT/PDGFRA inhibitor imatinib is the standard of care for patients with metastatic GIST. Most GIST eventually acquire imatinib resistance due to secondary mutations in the KIT kinase domain, but it is unclear whether these genomic resistance mechanisms require other cellular adaptations to create a clinically meaningful imatinib-resistant state...
July 31, 2017: Cancer Research
https://www.readbyqxmd.com/read/28757367/hypereosinophilic-syndrome-subtype-predicts-responsiveness-to-glucocorticoids
#14
Paneez Khoury, Annalise O Abiodun, Nicole Holland-Thomas, Michael P Fay, Amy D Klion
BACKGROUND: Glucocorticoids (GCs) are considered first-line treatment for platelet-derived growth factor α (PDGFRA)-negative hypereosinophilic syndromes (HESs). Despite this, little is known about clinical predictors of GC responsiveness in HES. OBJECTIVE: Knowledge of clinical and laboratory predictors of GC response before initiation of GC could lead to more rational selection of subjects with HES for whom earlier institution of second-line and alternative therapies would be appropriate...
July 27, 2017: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/28757314/using-ion-torrent-sequencing-to-study-genetic-mutation-profiles-of-fatal-thyroid-cancers
#15
Jin-Ying Lu, Wern-Cherng Cheng, Kuen-Yuan Chen, Chia-Chi Lin, Ching-Chung Chang, Kuan-Ting Kuo, Pei-Lung Chen
BACKGROUND/PURPOSE: Surgery followed by radioiodine is a mainstay of treatment for thyroid cancers of follicular origins. However, about 5% of the thyroid cancers are non-operable and/or radioiodine-refractory diseases, which are either locally advanced or metastatic and result in a survival of less than 5 years. How to treat this population of thyroid cancer patients becomes a critical issue requiring further understanding of the tumor's genetic information. METHODS: We used formalin-fixed paraffin-embedded specimens of 22 fatal thyroid cancers and their corresponding non-tumor parts, if available, to yield genomic DNA, and applied the Ion Torrent™ Personal Genome Machine (IT-PGM) System (Life Technologies), a next generation sequencing technology, to interrogate 740 mutational hotspots in 46 oncogenes...
July 27, 2017: Journal of the Formosan Medical Association, Taiwan Yi Zhi
https://www.readbyqxmd.com/read/28744850/the-expression-of-hematopoietic-progenitor-cell-antigen-cd34-is-regulated-by-dna-methylation-in-a-site-dependent-manner-in-gastrointestinal-stromal-tumours-gists
#16
Irina Bure, Alexander Braun, Claudia Kayser, Helene Geddert, Inga-Marie Schaefer, Silke Cameron, Michael B Ghadimi, Phillip Ströbel, Martin Werner, Arndt Hartmann, Stefan Wiemann, Abbas Agaimy, Florian Haller, Evgeny A Moskalev
The anatomic site-dependent expression of hematopoietic progenitor cell antigen CD34 is a feature of gastrointestinal stromal tumours (GISTs). The basis for the differential CD34 expression is only incompletely understood. This study aimed at understanding the regulation of CD34 in GISTs and clarification of its site-dependent expression. Two sample sets of primary GISTs were interrogated including 52 fresh-frozen and 134 paraffin-embedded and formalin-fixed specimens. DNA methylation analysis was performed by HumanMethylation450 BeadChip array in three cell lines derived from gastric and intestinal GISTs, and differentially methylated CpG sites were established upstream of CD34...
July 26, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28720667/mapk-pathway-and-tert-promoter-gene-mutation-pattern-and-its-prognostic-value-in-melanoma-patients%C3%AF-a-retrospective-study-of-2793-cases
#17
Xue Bai, Yan Kong, Zhihong Chi, Xinan Sheng, Chuanliang Cui, Xuan Wang, Lili Mao, Bixia Tang, Siming Li, Bin Lian, Xieqiao Yan, Li Zhou, Jie Dai, Jun Guo, Lu Si
Ethnic differences are conspicuous in melanoma. This study is to obtain a comprehensive view of a genomic landscape and a better understanding of the correlations of gene mutation status with clinicopathological characteristics and disease prognosis in Asian population.<br /><br />Experimental Design: 2793 melanoma patient samples were retrospectively collected and analyzed for mutations in C-KIT, BRAF, NRAS, and PDGFRA coding regions and TERT promoter region by Sanger sequencing. Mutations were correlated to clinicopathological features and overall survival...
July 18, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28714851/pdgfr%C3%AE-functions-in-endothelial-derived-cells-to-regulate-neural-crest-cells-and-development-of-the-great-arteries
#18
Haig Aghajanian, Young Kuk Cho, Nicholas W Rizer, Qiaohong Wang, Li Li, Karl Degenhardt, Rajan Jain
Originating as a single vessel emerging from the embryonic heart, the truncus arteriosus must septate and remodel into the aorta and pulmonary artery to support postnatal life. Defective remodeling or septation leads to abnormalities collectively known as conotruncal defects, which are associated with significant mortality and morbidity. Multiple populations of cells must interact to coordinate outflow tract remodeling, and cardiac neural crest has emerged as particularly important during this process. Abnormalities in cardiac neural crest have been implicated in the pathogenesis of multiple conotruncal defects, including persistent truncus arteriosus, double outlet right ventricle, and tetralogy of Fallot...
July 14, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28710566/remarkable-effects-of-imatinib-in-a-family-with-young-onset-gastrointestinal-stromal-tumors-and-cutaneous-hyperpigmentation-associated-with-a-germline-kit-trp557arg-mutation-case-report-and-literature-overview
#19
S Farag, L E van der Kolk, H H van Boven, A C J van Akkooi, G L Beets, J W Wilmink, N Steeghs
Gastrointestinal stromal tumors (GISTs) occur mostly sporadically. GISTs associated with a familial syndrome are very rare and are mostly wild type for KIT and platelet-derived growth factor alpha (PDGFRA). To date 35 kindreds and 8 individuals have been described with GISTs associated with germline KIT mutations. This is the third family described with a germline p.Trp557Arg mutation in exon 11 of the KIT gene. The effect of imatinib in patients harboring a germline KIT mutation has been rarely described. Moreover, in some studies imatinib treatment was withheld considering the lack of evidence for efficacy of this treatment in GIST patients harboring a germline KIT mutation...
July 14, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28698100/adenosquamous-gallbladder-carcinoma-multigene-hotspot-mutational-profiling-reveals-a-monoclonal-origin-of-the-two-components
#20
Francesca Galuppini, Roberta Salmaso, Elisa Valentini, Cristiano Lanza, Isacco Maretto, Donato Nitti, Massimo Rugge, Matteo Fassan
Adenosquamous carcinoma (ASC) of the gallbladder is a rare malignant tumor that is characterized by a coexisting of glandular and squamous components. In a case of ASC, we performed hotspot multigene mutational profiling of 164 hotspot regions of eleven cancer-associated genes (AKT1, APC, BRAF, CTNNB1, KIT, KRAS, NRAS, PDGFRA, PIK3CA, PTEN and TP53) in the two microdissected components. Both tumor phenotypes resulted characterized by a p.E542K point mutation in the PIK3CA gene, whereas adenocarcinoma component revealed also a TP53 Q331* homozygous stop mutation...
August 2017: Pathology, Research and Practice
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