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https://www.readbyqxmd.com/read/27883876/comprehensive-genomic-profiling-of-central-giant-cell-lesions-identifies-clinically-relevant-genomic-alterations
#1
Brett Bezak, Heidi Lehrke, Julia Elvin, Laurie Gay, David Schembri-Wismayer, Christopher Viozzi
PURPOSE: Comprehensive genomic profiling (CGP) can simultaneously detect clinically relevant genomic alterations (CRGAs) in hundreds of cancer-related genes and direct treatment toward patient-specific therapy options for many tumors. This pilot study aimed to use CGP to describe CRGAs present in central giant cell lesions (CGCLs) to characterize any possible underlying genomic drivers of CGCLs. MATERIALS AND METHODS: With institutional review board approval, electronic medical records were searched for patients with histologically confirmed CGCLs who underwent biopsy at Mayo Clinic from 2000 through 2014...
November 1, 2016: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/27856617/pdgfr%C3%AE-regulates-craniofacial-development-through-homodimers-and-functional-heterodimers-with-pdgfr%C3%AE
#2
Katherine A Fantauzzo, Philippe Soriano
Craniofacial development is a complex morphogenetic process, disruptions in which result in highly prevalent human birth defects. While platelet-derived growth factor (PDGF) receptor α (PDGFRα) has well-documented functions in this process, the role of PDGFRβ in murine craniofacial development is not well established. We demonstrate that PDGFRα and PDGFRβ are coexpressed in the craniofacial mesenchyme of mid-gestation mouse embryos and that ablation of Pdgfrb in the neural crest lineage results in increased nasal septum width, delayed palatal shelf development, and subepidermal blebbing...
November 17, 2016: Genes & Development
https://www.readbyqxmd.com/read/27855558/diagnostic-evaluation-of-rna-sequencing-for-the-detection-of-genetic-abnormalities-associated-with-ph-like-acute-lymphoblastic-leukemia-all
#3
Kai Lee Yap, Larissa V Furtado, Kazuma Kiyotani, Emily Curran, Wendy Stock, Jennifer L McNeer, Sabah Kadri, Jeremy P Segal, Yusuke Nakamura, Michelle M Le Beau, Sandeep Gurbuxani, Gordana Raca
Philadelphia (Ph)-like acute lymphoblastic leukemia (ALL) is a molecular subtype of high-risk B-cell ALL characterized by formation of abnormal gene fusions involving tyrosine kinase (TK) and cytokine receptor genes and activation of TK signaling. Because of the diversity of associated genetic changes, the detection of Ph-like ALL cases currently requires multiple cytogenetic and molecular assays; thus, our goal was to develop a consolidated workflow for detecting genetic abnormalities in Ph-like ALL. We found that total and targeted RNA sequencing (RNAseq)-based approach allowed the detection of abnormal fusion transcripts (EBF1-PDGFRB, P2RY8-CRLF2, RCSD1-ABL1, and RCSD1-ABL2)...
November 17, 2016: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/27852048/igfbp2-expression-predicts-idh-mutant-glioma-patient-survival
#4
L Eric Huang, Adam L Cohen, Howard Colman, Randy L Jensen, Daniel W Fults, William T Couldwell
Mutations of the isocitrate dehydrogenase (IDH) 1 and 2 genes occur in ~80% of lower-grade (WHO grade II and grade III) gliomas. Mutant IDH produces (R)-2-hydroxyglutarate, which induces DNA hypermethylation and presumably drives tumorigenesis. Interestingly, IDH mutations are associated with improved survival in glioma patients, but the underlying mechanism for the difference in survival remains unclear. Through comparative analyses of 286 cases of IDH-wildtype and IDH-mutant lower-grade glioma from a TCGA data set, we report that IDH-mutant gliomas have increased expression of tumor-suppressor genes (NF1, PTEN, and PIK3R1) and decreased expression of oncogenes(AKT2, ARAF, ERBB2, FGFR3, and PDGFRB) and glioma progression genes (FOXM1, IGFBP2, and WWTR1) compared with IDH-wildtype gliomas...
November 12, 2016: Oncotarget
https://www.readbyqxmd.com/read/27844328/molecular-profiling-of-thymoma-and-thymic-carcinoma-genetic-differences-and-potential-novel-therapeutic-targets
#5
Franz Enkner, Bettina Pichlhöfer, Alexandru Teodor Zaharie, Milica Krunic, Tina Maria Holper, Stefan Janik, Bernhard Moser, Karin Schlangen, Barbara Neudert, Karin Walter, Brigitte Migschitz, Leonhard Müllauer
Thymoma and thymic carcinoma are thymic epithelial tumors (TETs). We performed a molecular profiling to investigate the pathogenesis of TETs and identify novel targets for therapy. We analyzed 37 thymomas (18 type A, 19 type B3) and 35 thymic carcinomas. The sequencing of 50 genes detected nonsynonymous mutations in 16 carcinomas affecting ALK, ATM, CDKN2A, ERBB4, FGFR3, KIT, NRAS and TP53. Only two B3 thymomas had a mutation in noncoding regions of the SMARCB1 and STK11 gene respectively. Three type A thymomas harbored a nonsynonymous HRAS mutation...
November 14, 2016: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/27793525/immunohistochemical-expression-and-localization-of-cytokines-chemokines-growth-factors-in-gastric-cancer
#6
Uthandaraman Mahalinga Raja, Gopisetty Gopal, Sundersingh Shirley, Ayloor Seshadri Ramakrishnan, Thangarajan Rajkumar
Our previous studies on gastric cancer tissue and patient plasma samples identified several cytokines/chemokines/growth factors to be differentially expressed, compared to normal samples. In this study our aim was to understand the localization patterns of the markers in gastric tissues. We investigated the expression of PDGFRB, CCL3, MMP3, CXCL8, CXCL10, CCL20, IGFBP3, CXCL9, SPP1, CCL18, TIMP1, CCL15, CXCL5 and CCL4 in gastric tissues using Immunohistochemistry (IHC) on Tissue Microarrays (TMA). The TMA comprised of 25 apparently normal (AN), 87 paired normal (PN) and 134 gastric cancer (T) tissues...
October 25, 2016: Cytokine
https://www.readbyqxmd.com/read/27791295/vascular-architecture-as-diagnostic-marker-for-differentiation-of-who-thymoma-subtypes-and-thymic-carcinoma
#7
Frederick Pfister, Hussam Hussain, Djeda Belharazem, Svenja Busch, Katja Simon-Keller, Dominic Becker, Eva Pfister, Ralf Rieker, Philipp Ströbel, Alexander Marx
BACKGROUND: Thymomas and thymic squamous cell carcinomas (TSQCC) are rare thymic epithelial tumors. Data on angiogenesis and vascular phenotype in these tumors is limited, and no study took histological WHO subtypes into account. METHODS: Vascular density, diameter and architecture and expression of SMA, PDGFRb, VEGFR1 and VEGFR2 were investigated in WHO type A, AB, B1, B2 and B3 thymomas and TSQCC, using immuno-stainings, quantitative morphometry and tumor vessel isolation by trypsin digestion...
October 28, 2016: Histopathology
https://www.readbyqxmd.com/read/27787485/moyamoya-vasculopathy-shows-a-genetic-mutational-gradient-decreasing-from-east-to-west
#8
Alessandro Raso, Roberto Biassoni, Samantha Mascelli, Paolo Nozza, Elisabetta Ugolotti, Eddi DI Marco, Patrizia DE Marco, Elisa Merello, Armando Cama, Marco Pavanello, Valeria Capra
BACKGROUND: Moyamoya disease (MMD) is a chronic, occlusive cerebrovascular disease characterized by bilateral steno- occlusive changes at the terminal portion of the internal carotid arteries and an abnormal vascular network at the base of the brain determining stroke in children. Patients with a similar vasculopathy and associated conditions are affected by the moyamoya syndrome (MMS). Most of the studies focused on MMD were carried out on East-Asian population. Ring Finger 213 (RNF213) has been identified as the strongest susceptibility gene for MMD in East-Asian people...
October 27, 2016: Journal of Neurosurgical Sciences
https://www.readbyqxmd.com/read/27776010/recurrent-somatic-pdgfrb-mutations-in-sporadic-infantile-solitary-adult-myofibromas-but-not-in-angioleiomyomas-and-myopericytomas
#9
Abbas Agaimy, Matthias Bieg, Michael Michal, Helene Geddert, Bruno Märkl, Jan Seitz, Evgeny A Moskalev, Matthias Schlesner, Markus Metzler, Arndt Hartmann, Stefan Wiemann, Michal Michal, Thomas Mentzel, Florian Haller
Infantile myofibroma (MF) is an uncommon benign myofibroblastic tumor of infancy and childhood. Solitary adult MF shares similar features with infantile MF. The lesions occur in 3 clinicopathologic settings: solitary, multicentric, and generalized and can be either sporadic or familial. Traditionally, infantile MF has been included in the spectrum of infantile hemangiopericytoma. The recent World Health Organization classification listed MF, angioleiomyoma, and myopericytoma under the general heading of perivascular tumors in the sense of a morphologic spectrum of perivascular myoid cell neoplasms...
October 21, 2016: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/27751871/hif1%C3%AE-induced-pdgfr%C3%AE-signaling-promotes-developmental-hsc-production-via-il-6-activation
#10
Sung-Eun Lim, Virginie Esain, Wanda Kwan, Lindsay N Theodore, Mauricio Cortes, Isaura M Frost, Sarah Y Liu, Trista E North
Hematopoietic stem cells (HSCs) have the ability to both self-renew and differentiate into all of the mature blood cell lineages and thereby reconstitute the entire blood system. Therefore, HSCs are therapeutically valuable for treatment of hematological malignances and bone marrow failure. We showed recently that transient glucose elevation elicited dose-dependent effects on HSCs through elevated metabolic activity and subsequent reactive oxygen species-mediated induction of Hypoxia-Inducible Factor 1α (Hif1α)...
October 15, 2016: Experimental Hematology
https://www.readbyqxmd.com/read/27746819/myeloid-neoplasms-with-t-5-12-and-etv6-acsl6-gene-fusion-potential-mimickers-of-myeloid-neoplasm-with-pdgfrb-rearrangement-case-report-with-imatinib-therapy-and-review-of-the-literature
#11
Javier De Luca-Johnson, Jose I Ruades Ninfea, Lauren Pearson, Joanna Conant, Ronald Bryant, Neil A Zakai, Mary E Tang
We report the second case of ETV6-ACSL6 associated myeloproliferative neoplasm that has received a full course of imatinib therapy. The patient was a 51-year-old previously healthy man who presented with three months of worsening dyspnea and was found to have a white count of 216,000/cmm, of which 84% were eosinophil lineage. Cytogenetic analysis revealed a t(5;12)(q31~33;p13). FISH was negative for PDGFRB rearrangement but additional FISH testing demonstrated an ACSL6 rearrangement. ETV6-ACSL6 gene fusion is a rare abnormality that most often presents as a myeloproliferative-type disorder with prominent eosinophilia or basophilia...
2016: Case Reports in Medicine
https://www.readbyqxmd.com/read/27726124/primary-familial-brain-calcification-linked-to-deletion-of-5-noncoding-region-of-slc20a2
#12
P Pasanen, J Mäkinen, L Myllykangas, R Guerreiro, J Bras, M Valori, M Viitanen, M Baumann, P J Tienari, M Pöyhönen, P Baumann
OBJECTIVES: Primary familial brain calcification (PFBC) is a rare neurological disease often inherited as a dominant trait. Mutations in four genes (SLC20A2, PDGFB, PDGFRB, and XPR1) have been reported in patients with PFBC. Of these, point mutations or small deletions in SLC20A2 are most common. Thus far, only one large deletion covering entire SLC20A2 and several smaller, exonic deletions of SLC20A2 have been reported. The aim of this study was to identify the causative gene defect in a Finnish PFBC family with three affected patients...
October 10, 2016: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/27725773/analysis-of-the-brain-mural-cell-transcriptome
#13
Liqun He, Michael Vanlandewijck, Elisabeth Raschperger, Maarja Andaloussi Mäe, Bongnam Jung, Thibaud Lebouvier, Koji Ando, Jennifer Hofmann, Annika Keller, Christer Betsholtz
Pericytes, the mural cells of blood microvessels, regulate microvascular development and function and have been implicated in many brain diseases. However, due to a paucity of defining markers, pericyte identification and functional characterization remain ambiguous and data interpretation problematic. In mice carrying two transgenic reporters, Pdgfrb-eGFP and NG2-DsRed, we found that double-positive cells were vascular mural cells, while the single reporters marked additional, but non-overlapping, neuroglial cells...
October 11, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27693749/wnt-signaling-promotes-hindgut-fate-commitment-through-regulating-multi-lineage-genes-during-hesc-differentiation
#14
Xiujuan Zhang, Ying Chen, Ying Ye, Jianfeng Wang, Hong Wang, Guohong Yuan, Zhe Lin, Yihui Wu, Yan Zhang, Xinhua Lin
Wnt signaling plays essential roles in both embryonic pattern formation and postembryonic tissue homoestasis. High levels of Wnt activity repress foregut identity and facilitate hindgut fate through forming a gradient of Wnt signaling activity along the anterior-posterior axis. Here, we examined the mechanisms of Wnt signaling in hindgut development by differentiating human embryonic stem cells (hESCs) into the hindgut progenitors. We observed severe morphological changes when Wnt signaling was blocked by using Wnt antagonist Dkk1...
September 29, 2016: Cellular Signalling
https://www.readbyqxmd.com/read/27681117/novel-chromosome-5-inversion-associated-with-pdgfrb-rearrangement-in-hypereosinophilic-syndrome
#15
Jennifer N Saultz, Ben H Kaffenberger, Montoya Taylor, Nyla A Heerema, Rebecca Klisovic
No abstract text is available yet for this article.
September 28, 2016: JAMA Dermatology
https://www.readbyqxmd.com/read/27648315/a-26-year-old-female-with-systemic-mastocytosis-with-associated-myeloid-neoplasm-with-eosinophilia-and-abnormalities-of-pdgfrb-t-4-5-q21-q33
#16
Laura E Brown, Da Zhang, Diane L Persons, Abdulraheem Yacoub, Shivani Ponnala, Wei Cui
Various translocations involving the PDGFRB gene are identified in myeloid neoplasms. However, the PRKG2/PDGFRB fusion gene associated with t(4;5)(q21;q33) has previously been reported in only 3 patients. We present the case of a 26-year-old woman with microcytic anemia, basophilia, thrombocytosis, and massive splenomegaly, who was found to have systemic mastocytosis and associated clonal hematological non-mast cell lineage disease (SM-AHNMD), with myeloid neoplasm with PRKG2/PDGFRB rearrangement. Initial findings included basophilia (37%, 4...
2016: Case Reports in Hematology
https://www.readbyqxmd.com/read/27610941/genome-wide-association-study-for-semen-traits-of-the-bulls-in-chinese-holstein
#17
Chunhua Qin, Hongwei Yin, Xu Zhang, Dongxiao Sun, Qin Zhang, Jianfeng Liu, Xiangdong Ding, Yi Zhang, Shengli Zhang
A genome-wide association study (GWAS) was performed to identify markers and candidate genes for five semen traits in the Holstein bull population in China. The analyzed dataset consisted of records from 692 bulls from eight bull stations; each bull was genotyped using the Illumina BovineSNP50 BeadChip. Association tests between each trait and the 41 188 informative high-quality SNPs were achieved with gapit software. In total, 19 suggestive significant SNPs, partly located within the reported QTL regions or within or close to the reported candidate genes, associated with five semen traits were detected...
September 9, 2016: Animal Genetics
https://www.readbyqxmd.com/read/27573554/ndel1-pdgfrb-fusion-gene-in-a-myeloid-malignancy-with-eosinophilia-associated-with-resistance-to-tyrosine-kinase-inhibitors
#18
K Byrgazov, R Kastner, M Gorna, G Hoermann, M Koenig, C B Lucini, R Ulreich, M Benesch, V Strenger, H Lackner, W Schwinger, P Sovinz, O A Haas, M van den Heuvel-Eibrink, C M Niemeyer, O Hantschel, P Valent, G Superti-Furga, C Urban, M N Dworzak, T Lion
No abstract text is available yet for this article.
October 7, 2016: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/27570624/a-novel-three-way-rearrangement-involving-etv6-12p13-and-abl1-9q34-with-an-unknown-partner-on-3p25-resulting-in-a-possible-etv6-abl1-fusion-in-a-patient-with-acute-myeloid-leukemia-a-case-report-and-a-review-of-the-literature
#19
Carlos A Tirado, Ken Siangchin, David S Shabsovich, Maryam Sharifian, Gary Schiller
BACKGROUND: Acute myeloid leukemia (AML) is commonly characterized by several chromosomal abnormalities resulting in the formation of chimeric genes that play various roles in leukemogenesis. Translocations resulting in the ETV6-ABL1 fusion gene are rare in AML and other hematologic malignancies with only thirty-two previously reported cases in the literature, five of which were AML. FINDINGS: Herein, we report the case of a 73-year-old male with acute myeloid leukemia arising from MDS, negative for PDGFRA and PDGFRB, positive for bone marrow eosinophilia, rash, and marked fluid retention, which improved dramatically with imatinib therapy...
2016: Biomarker Research
https://www.readbyqxmd.com/read/27556512/coupling-of-letm1-up-regulation-with-oxidative-phosphorylation-and-platelet-derived-growth-factor-receptor-signaling-via-yap1-transactivation
#20
Jandee Lee, Woo Kyung Lee, Mi-Youn Seol, Seul Gi Lee, Daham Kim, Hyunji Kim, Jongsun Park, Sang Geun Jung, Woong Youn Chung, Eun Jig Lee, Young Suk Jo
Persistent cellular proliferation and metabolic reprogramming are essential processes in carcinogenesis. Here, we performed Gene Set Enrichment Analysis (GSEA) and found that that LETM1, a mitochondrial calcium transporter, is associated with cellular growth signals such as platelet-derived growth factor (PDGF) receptor signaling and insulin signaling pathways. These results were then verified by qRT-PCR and immnunoblotting. Mechanistically, up-regulation of LETM1 induced YAP1 nuclear accumulation, increasing the expression of PDGFB, PDGFRB and THBS4...
August 20, 2016: Oncotarget
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