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https://www.readbyqxmd.com/read/28639748/expansion-of-the-phenotype-of-kosaki-overgrowth-syndrome
#1
Mari Minatogawa, Toshiki Takenouchi, Yu Tsuyusaki, Fuminori Iwasaki, Tomoko Uenara, Kenji Kurosawa, Kenjiro Kosaki, Cynthia J Curry
Skeletal overgrowth is a characteristic of several genetic disorders that are linked to specific molecular signaling cascades. Recently, we established a novel overgrowth syndrome (Kosaki overgrowth syndrome, OMIM #616592) arising from a de novo mutation in PDGFRB, that is, c.1751C>G p.(Pro584Arg). Subsequently, other investigators provided in vitro molecular evidence that this specific mutation in the juxtamembrane domain of PDGFRB causes an overgrowth phenotype and is the first gain-of-function point mutation of PDGFRB to be reported in humans...
June 22, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28619982/jak1-2-and-bcl2-inhibitors-synergize-to-counteract-bone-marrow-stromal-cell-induced-protection-of-aml
#2
Riikka Karjalainen, Tea Pemovska, Mihaela Popa, Minxia Liu, Komal K Javarappa, Muntasir M Majumder, Bhagwan Yadav, David Tamborero, Jing Tang, Dmitrii Bychkov, Mika Kontro, Alun Parsons, Minna Suvela, Mireia Mayoral Safont, Kimmo Porkka, Tero Aittokallio, Olli Kallioniemi, Emmet McCormack, Bjørn T Gjertsen, Krister Wennerberg, Jonathan Knowles, Caroline A Heckman
The bone marrow (BM) provides a protective microenvironment to support the survival of leukemic cells and influence their response to therapeutic agents. In acute myeloid leukemia (AML), the high rate of relapse may in part be due to the inability of current treatment to effectively overcome the protective influence of the BM niche. To better understand the impact of the BM microenvironment on drug responses in AML, we conducted a comprehensive evaluation of 304 inhibitors, including approved and investigational agents, comparing ex vivo responses of primary AML cells in BM stroma-derived and standard culture conditions...
June 15, 2017: Blood
https://www.readbyqxmd.com/read/28597942/copy-number-alterations-determined-by-single-nucleotide-polymorphism-array-testing-in-the-clinical-laboratory-are-indicative-of-gene-fusions-in-pediatric-cancer-patients
#3
Tracy M Busse, Jacquelyn J Roth, Donna Wilmoth, Luanne Wainwright, Laura Tooke, Jaclyn A Biegel
Gene fusions resulting from structural rearrangements are an established mechanism of tumorigenesis in pediatric cancer. In this clinical cohort, 1,350 single nucleotide polymorphism (SNP)-based chromosomal microarrays from 1,211 pediatric cancer patients were evaluated for copy number alterations (CNAs) associated with gene fusions. Karyotype or fluorescence in situ hybridization studies were performed in 42% of the patients. Ten percent of the bone marrow or solid tumor specimens had SNP array-associated CNAs suggestive of a gene fusion...
June 9, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28576849/proteome-wide-identification-of-glycosylation-dependent-interactors-of-galectin-1-and-galectin-3-on-mesenchymal-retinal-pigment-epithelial-cells
#4
Jara Obermann, Claudia S Priglinger, Juliane Merl-Pham, Arie Geerlof, Sigfried Priglinger, Magdalena Götz, Stefanie M Hauck
Identification of interactors is a major goal in cell biology. Not only protein-protein but also protein-carbohydrate interactions are of high relevance for signal transduction in biological systems. Here we aim to identify novel interacting binding partners for the β-galactoside-binding proteins Galectin-1 (Gal-1) and Galectin-3 (Gal-3) relevant in the context of the eye disease proliferative vitreoretinopathy (PVR). PVR is one of the most common failures after retinal detachment surgeries and is characterized by the migration, adhesion and epithelial-to-mesenchymal transition (EMT) of retinal pigment epithelial cells (RPE) and the subsequent formation of sub- and epiretinal fibrocellular membranes...
June 2, 2017: Molecular & Cellular Proteomics: MCP
https://www.readbyqxmd.com/read/28555080/deregulation-of-kinase-signaling-and-lymphoid-development-in-ebf1-pdgfrb-all-leukemogenesis
#5
S J Welsh, M L Churchman, M Togni, C G Mullighan, J Hagman
The chimeric fusion oncogene EBF1-PDGFRB is a recurrent lesion observed in Ph-like B-ALL and is associated with particularly poor prognosis. While it is understood that this fusion activates tyrosine kinase signaling, the mechanisms of transformation and importance of perturbation of EBF1 activity remain unknown. EBF1 is a nuclear transcription factor required for normal B-lineage specification, commitment, and development. Conversely, PDGFRB is a receptor tyrosine kinase that is normally repressed in lymphocytes, yet PDGFRB remains a common fusion partner in leukemias...
May 30, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28552963/bim-expression-in-endothelial-cells-and-pericytes-is-essential-for-regression-of-the-fetal-ocular-vasculature
#6
Shoujian Wang, Ismail S Zaitoun, Ryan P Johnson, Nasim Jamali, Zafer Gurel, Catherine M Wintheiser, Andreas Strasser, Volkhard Lindner, Nader Sheibani, Christine M Sorenson
Apoptosis plays a central role in developmental and pathological angiogenesis and vessel regression. Bim is a pro-apoptotic Bcl-2 family member that plays a prominent role in both developmental and pathological ocular vessel regression, and neovascularization. Endothelial cells (EC) and pericytes (PC) each play unique roles during vascular development, maintenance and regression. We recently showed that germline deletion of Bim results in persistent hyaloid vasculature, increased retinal vascular density and prevents retinal vessel regression in response to hyperoxia...
2017: PloS One
https://www.readbyqxmd.com/read/28552906/novel-pdgfrb-fusions-in-childhood-b-and-t-acute-lymphoblastic-leukemia
#7
A M Heilmann, A B Schrock, J He, M Nahas, K Curran, N Shukla, S Cramer, L Draper, A Verma, R Erlich, J Ross, P Stephens, V A Miller, S M Ali, J-A Verglio, M S Tallman, T I Mughal
Leukemia accepted article preview online, 29 May 2017. doi:10.1038/leu.2017.161.
May 29, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28521628/cd36-positive-b-lymphoblasts-predict-poor-outcome-in-children-with-b-lymphoblastic-leukemia
#8
Joanna G Newton, John T Horan, Scott Newman, Michael R Rossi, Rhett P Ketterling, Sunita I Park
Objective We observed that pediatric patients with B lymphoblastic leukemia which expressed CD36 at diagnosis seemed to have worse outcome than patients whose blasts did not. Here, we describe the patient, disease characteristics, pathological, molecular, and genetic features and outcomes of patients with CD36+ B-LL compared to patients with CD36- B-LL. Methods We retrospectively reviewed all flow cytometry reports from September 2008 to December 2015 to identify patients diagnosed at our institution with CD36 expression on B lymphoblasts...
June 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28509585/identification-of-a-novel-fusion-tbl1xr1-pdgfrb-in-a-patient-with-acute-myeloid-leukemia-harboring-the-dek-nup214-fusion-and-clinical-response-to-dasatinib
#9
Paulo Vidal Campregher, Nathalia da Silva Halley, Gabriela Amaral Vieira, Juliana Folloni Fernandes, Elvira Deolinda Rodrigues Pereira Velloso, Siraj Ali, Tariq Mughal, Vincent Miller, Cristovão Luis Pitangueira Mangueira, Vicente Odone, Nelson Hamerschlak
No abstract text is available yet for this article.
May 16, 2017: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/28506734/mtor-vegf-pdgfr-and-c-kit-signaling-pathway-activation-in-kaposi-sarcoma
#10
Darcy A Kerr, Satya Vara Prasad Busarla, Devon C Gimbel, Aliyah R Sohani, Rosalynn M Nazarian
Kaposi sarcoma (KS) is a locally progressive, intermediate-grade vascular neoplasm with no known cure, high recurrence rates and potential for wide dissemination. Low efficacy and high toxicity limit current therapeutic options for advanced disease. Activation of mammalian target of rapamycin (mTOR), platelet-derived growth factor (PDGF), vascular endothelial growth factor (VEGF), and c-kit signaling pathways has been implicated in KS pathogenesis and may suggest a role for targeted inhibitors. KS cases were retrospectively retrieved (n=274), most (90%) associated with human immunodeficiency virus (HIV)...
May 12, 2017: Human Pathology
https://www.readbyqxmd.com/read/28505006/myopericytomatosis-clinicopathologic-analysis-of-11-cases-with-molecular-identification-of-recurrent-pdgfrb-alterations-in-myopericytomatosis-and-myopericytoma
#11
Yin P Hung, Christopher D M Fletcher
Myopericytoma is a benign tumor of concentrically distributed perivascular myoid cells. Its molecular basis and relationship with myofibroma/myofibromatosis and other pericytic tumors are not fully understood. In our consultation/surgical files of over 1000 myopericytic lesions, we identified 11 cases with diffuse dermal/subcutaneous involvement by microscopic myopericytomatous nodules, a phenomenon we have termed myopericytomatosis. Myopericytomatosis affected mostly adults (female:male=8:3; median age, 37 y; range, 9 to 63 y) in the lower extremities (foot/ankle, 5; calf, 3; knee, 1; thigh, 1; neck, 1) over months to 25 years, ranging from 1...
May 12, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28496993/successful-application-of-whole-genome-sequencing-in-a-medical-genetics-clinic
#12
David Bick, Pamela C Fraser, Michael F Gutzeit, Jeremy M Harris, Tina M Hambuch, Daniel C Helbling, Howard J Jacob, Juliet N Kersten, Steven R Leuthner, Thomas May, Paula E North, Sasha Z Prisco, Bryce A Schuler, Mary Shimoyama, Kimberly A Strong, Scott K Van Why, Regan Veith, James Verbsky, Arthur M Weborg, Brandon M Wilk, Rodney E Willoughby, Elizabeth A Worthey, David P Dimmock
A pilot program was initiated using whole genome sequencing (WGS) to diagnose suspected genetic disorders in the Genetics Clinic at Children's Hospital of Wisconsin. Twenty-two patients underwent WGS between 2010 and 2013. Initially, we obtained a 14% (3/22) diagnosis rate over 2 years; with subsequent reanalysis, this increased to 36% (8/22). Disease causing variants were identified in SKIV2L, CECR1, DGKE, PYCR2, RYR1, PDGFRB, EFTUD2, and BCS1L. In 75% (6/8) of diagnosed cases, the diagnosis affected treatment and/or medical surveillance...
June 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28464908/a-phase-i-study-of-lapatinib-in-combination-with-foretinib-a-c-met-axl-and-vascular-endothelial-growth-factor-receptor-inhibitor-in-human-epidermal-growth-factor-receptor-2-her-2-positive-metastatic-breast-cancer
#13
Stephen K Chia, Susan L Ellard, Mihaela Mates, Stephen Welch, Catalin Mihalcioiu, Wilson H Miller, Karen Gelmon, Caroline Lohrisch, Vikaash Kumar, Sara Taylor, Linda Hagerman, Rachel Goodwin, Tao Wang, Shingo Sakashita, Ming S Tsao, Elizabeth Eisenhauer, Penelope Bradbury
BACKGROUND: The mechanisms of resistance to anti-human epidermal growth factor receptor 2 (HER 2) therapies are unclear but may include the tyrosine-protein kinase Met (c-Met), vascular endothelial growth factor (VEGF) and AXL pathways. Foretinib is an inhibitor of c-Met, VEGF receptor 2 (VEGFR-2), platelet-derived growth factor receptor beta (PDGFRB), AXL, Fms-like tyrosine kinase 3 (FLT3), angiopoiten receptor (TIE-2), RET and RON kinases. This phase Ib study sought to establish the associated toxicities, pharmacokinetics (PK) and recommended phase II doses (RP2D) of foretinib and lapatinib in a cohort of HER-2-positive patients with metastatic breast cancer (MBC)...
May 2, 2017: Breast Cancer Research: BCR
https://www.readbyqxmd.com/read/28449810/novel-t-5-11-q32-q13-4-with-numa1-pdgfrb-fusion-in-a-myeloid-neoplasm-with-eosinophilia-with-response-to-imatinib-mesylate
#14
Ying S Zou, Nicole L Hoppman, Zeba N Singh, Sameer Sawhney, Sandy D Kotiah, Maria R Baer
We report a NUMA1-PDGFRB fusion in a myeloproliferative neoplasm with eosinophilia in a 61-year old man, with response to imatinib mesylate therapy. A t(5;11) chromosome translocation involving bands 5q32 and 11q13.4 was identified by metaphase chromosome analysis, and rearrangement of the platelet-derived growth factor receptor beta (PDGFRB) gene on 5q32 was demonstrated by FISH using a PDGFRB break-apart probe set. Bacterial artificial chromosome (BAC) FISH mapping of the PDGFRB fusion partner gene narrowed the breakpoint at 11q13...
April 2017: Cancer Genetics
https://www.readbyqxmd.com/read/28435517/inhibition-of-the-platelet-derived-growth-factor-receptor-beta-pdgfrb-using-gene-silencing-crenolanib-besylate-or-imatinib-mesylate-hampers-the-malignant-phenotype-of-mesothelioma-cell-lines
#15
Ombretta Melaiu, Calogerina Catalano, Chiara De Santi, Monica Cipollini, Gisella Figlioli, Lucia Pellè, Elisa Barone, Monica Evangelista, Alice Guazzelli, Laura Boldrini, Elisa Sensi, Alessandra Bonotti, Rudy Foddis, Alfonso Cristaudo, Luciano Mutti, Gabriella Fontanini, Federica Gemignani, Stefano Landi
Malignant pleural mesothelioma (MPM) is a cancer of the pleural cavity resistant to chemotherapy. The identification of novel therapeutic targets is needed to improve its poor prognosis. Following a review of literature and a screening of specimens we found that platelet-derived growth factor receptor beta (PDGFRB) is over-expressed, but not somatically mutated, in MPM tissues. We aimed to ascertain whether PDGFRB is a MPM-cancer driver gene. The approaches employed included the use of gene silencing and the administration of small molecules, such as crenolanib and imatinib (PDGFR inhibitors) on MPM cell lines (IstMes2, Mero-14, Mero-25)...
January 2017: Genes & Cancer
https://www.readbyqxmd.com/read/28426709/pdgfrb-is-a-direct-regulatory-target-of-tgf%C3%AE-signaling-in-atrioventricular-cushion-mesenchymal-cells
#16
Yin Peng, Shun Yan, Dongquan Chen, Xiangqin Cui, Kai Jiao
Cushion formation is the initial step for the development of valvuloseptal structures in mammalian hearts. TGFβ signaling plays critical roles in multiple steps of cushion morphogenesis. We used a newly developed conditional immortal atrioventricular cushion mesenchymal cell line, tsA58-AVM, to identify the TGFβ regulatory target genes through microarray analysis. Expression of ~1350 genes was significantly altered by TGFβ1 treatment. Subsequent bioinformatic analysis of TGFβ activated genes revealed that PDGF-BB signaling is the top hit as the potential upstream regulator...
2017: PloS One
https://www.readbyqxmd.com/read/28417142/heterozygous-pdgfrb-mutation-in-a-three-generation-family-with-autosomal-dominant-infantile-myofibromatosis
#17
Clemence Lepelletier, Yasser Al-Sarraj, Christine Bodemer, Hibbah Shaath, Sylvie Fraitag, Marios Kambouris, Dominique Hamel-Teillac, Hatem El Shanti, Smail Hadj-Rabia
No abstract text is available yet for this article.
April 18, 2017: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/28412213/acute-mast-cell-leukemia-associated-with-t-4-5-q21-q33
#18
Ren Ching Wang, David Ward, Philip Dunn, Chung-Che Chang
To the best of our knowledge, this manuscript describes clinical, and pathologic findings of the first case of acute mast cell leukemia harboring t(4;5)(q21;q33), compatible with fusion of PDGFRB gene to a rare partner, PRKG2. Translocation involving PDGFRB gene is confirmed by FISH study. This case presented a relatively fulminant clinical course with acute mast cell leukemia and "C" findings (cytopenia, hepatosplenomegaly and weight loss), mast cell sarcoma and severe basophilia. Despite aggressive presentation initially, the patient responded well to TKI treatment and is currently in complete remission, 33months after diagnosis...
April 13, 2017: Human Pathology
https://www.readbyqxmd.com/read/28408464/targetable-kinase-gene-fusions-in-high-risk-b-all-a-study-from-the-children-s-oncology-group
#19
Shalini C Reshmi, Richard C Harvey, Kathryn G Roberts, Eileen Stonerock, Amy Smith, Heather Jenkins, I-Ming Chen, Marc Valentine, Yu Liu, Yongjin Li, Ying Shao, John Easton, Debbie Payne-Turner, Zhaohui Gu, Thai Hoa Tran, Jonathan V Nguyen, Meenakshi Devidas, Yunfeng Dai, Nyla A Heerema, Andrew J Carroll, Elizabeth A Raetz, Michael J Borowitz, Brent L Wood, Anne L Angiolillo, Michael J Burke, Wanda L Salzer, Patrick A Zweidler-McKay, Karen R Rabin, William L Carroll, Jinghui Zhang, Mignon L Loh, Charles G Mullighan, Cheryl L Willman, Julie M Gastier-Foster, Stephen P Hunger
Philadelphia chromosome-like acute lymphoblastic leukemia (Ph-like ALL) is a high-risk subtype characterized by genomic alterations that activate cytokine receptor and kinase signaling. We examined the frequency and spectrum of targetable genetic lesions in a retrospective cohort of 1389 consecutively diagnosed childhood B-ALL patients with high-risk clinical features and/or elevated minimal residual disease at the end of remission induction therapy. The Ph-like gene expression profile was identified in 341 of 1389 patients, 57 of which were excluded from additional analysis because of the presence of BCR-ABL1 (n=46) or ETV6-RUNX1 (n=11)...
April 13, 2017: Blood
https://www.readbyqxmd.com/read/28393601/genetic-analysis-of-non-syndromic-familial-multiple-supernumerary-premolars
#20
Doo Hwan Bae, Ji Hyun Lee, Je Seon Song, Han-Sung Jung, Hyung Jun Choi, Ji Hun Kim
OBJECTIVE: Supernumerary teeth, a term describing a condition where patients have an abnormally large number of teeth, can be associated with non-syndromic or syndromic phenotypes. PDGFRs are cell surface tyrosine kinase receptors, and are involved in several aspects of tooth development. The purpose of this study was to identify causative genes of familial supernumerary teeth and the molecular pathogenesis of tooth number abnormalities through genetic analysis of a family that showed supernumerary premolars in two successive generations...
April 10, 2017: Acta Odontologica Scandinavica
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