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https://www.readbyqxmd.com/read/27903959/genome-wide-haplotype-association-study-identify-the-fgfr2-gene-as-a-risk-gene-for-acute-myeloid-leukemia
#1
Hongchao Lv, Mingming Zhang, Zhenwei Shang, Jin Li, Shanshan Zhang, Duan Lian, Ruijie Zhang
Acute myeloid leukemia (AML) is a cancer of the myeloid line of blood cells, and generally considered to be caused by environment and genetic factors. In this study, we combined a genome-wide haplotype association study (GWHAS) and gene prioritization strategy to mine AML-related genetic affect factors and understand its pathogenesis. A total of 175 AML patients were downloaded from the public GEO database (GSE32462) and 218 matched Caucasian controls were from the HapMap Project. We first identified the linkage disequilibrium (LD) blocks and performed a GWHAS to scan AML-related haplotypes...
November 26, 2016: Oncotarget
https://www.readbyqxmd.com/read/27896638/seom-clinical-guideline-for-gastrointestinal-sarcomas-gist-2016
#2
A Poveda, V Martinez, C Serrano, I Sevilla, M J Lecumberri, R D de Beveridge, A Estival, D Vicente, J Rubió, J Martin-Broto
Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal neoplasms of the digestive tract, and this disease has served as a paradigmatic model for successful rational development of targeted therapies. The introduction of tyrosine kinase inhibitors with activity against KIT/PDGFRA in both localized and advanced stages has remarkably improved the survival in a disease formerly deemed resistant to all systemic therapies. The Spanish Society of Medical Oncology (SEOM) guidelines provide a multidisciplinary and updated consensus for the diagnosis and treatment of GIST patients...
November 28, 2016: Clinical & Translational Oncology
https://www.readbyqxmd.com/read/27894125/intronic-polyadenylation-of-pdgfr%C3%AE-in-resident-stem-cells-attenuates-muscle-fibrosis
#3
Alisa A Mueller, Cindy T van Velthoven, Kathryn D Fukumoto, Tom H Cheung, Thomas A Rando
Platelet-derived growth factor receptor α (PDGFRα) exhibits divergent effects in skeletal muscle. At physiological levels, signalling through this receptor promotes muscle development in growing embryos and angiogenesis in regenerating adult muscle. However, both increased PDGF ligand abundance and enhanced PDGFRα pathway activity cause pathological fibrosis. This excessive collagen deposition, which is seen in aged and diseased muscle, interferes with muscle function and limits the effectiveness of gene- and cell-based therapies for muscle disorders...
November 28, 2016: Nature
https://www.readbyqxmd.com/read/27872880/data-on-quantification-of-signaling-pathways-activated-by-kit-and-pdgfra-mutants
#4
Christelle Bahlawane, Martine Schmitz, Elisabeth Letellier, Karthik Arumugam, Nathalie Nicot, Petr V Nazarov, Serge Haan
The present data are related to the article entitled "Insights into ligand stimulation effects on gastro-intestinal stromal tumors signaling" (C. Bahlawane, M. Schmitz, E. Letellier, K. Arumugam, N. Nicot, P.V. Nazarov, S. Haan, 2016) [1]. Constitutive and ligand-derived signaling pathways mediated by KIT and PDGFRA mutated proteins found in gastrointestinal stromal tumors (GIST) were compared. Expression of mutant proteins was induced by doxycycline in an isogenic background (Hek293 cells). Kit was identified by FACS at the cell surface and found to be quickly degraded or internalized upon SCF stimulation for both Kit Wild type and Kit mutant counterparts...
December 2016: Data in Brief
https://www.readbyqxmd.com/read/27864688/detection-of-mutations-in-the-braf-gene-in-patients-with-kit-and-pdgfra-wild-type-gastrointestinal-stromal-tumors
#5
Karin Jasek, Veronika Buzalkova, Gabriel Minarik, Andrea Stanclova, Peter Szepe, Lukas Plank, Zora Lasabova
Gastrointestinal stromal tumors (GISTs) are characterized by mutations in exons 9, 11, 13, and 17 of KIT or exons 12, 14, and 18 of PDGFRA gene. However, approximately 10 to 15 % of GISTs lack the mutations in KIT and PDGFRA, and these are referred to as wild-type GISTs which are less sensitive to tyrosine-kinase inhibitors. The aim of this study was to detect BRAF mutations in patients with wild-type GISTs. We applied a sensitive allele-specific PCR, which was optimized using the V600E mutation-harboring cell line RKO, followed by verification of the results by dideoxy sequencing...
November 18, 2016: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/27846662/-the-lymphoid-variant-of-hes-l-hes-as-differential-diagnose-of-severe-asthma-in-childhood
#6
T Leu, S Rauthe, C Wirth, H-U Simon, V Kunzmann, H Hebestreit, S Kunzmann
Based on a case report an overview on the differential diagnostic considerations with respect to blood hypereosinophilia (HE) and hypereosinophilic syndromes (HES) in childhood is given. A 13-year-old boy was admitted for the clarification of an asthma. In the blood count an increased HE with 3 500/µl (30%) was found along with elevated total serum IgE and IL-5 level (2 000 IU/ml and 17 pg/ml). Lung function showed an obstruction (FEV1 38%). Radiologically the picture of bronchiectasis and mucus pluggine appeared...
November 2016: Klinische Pädiatrie
https://www.readbyqxmd.com/read/27844328/molecular-profiling-of-thymoma-and-thymic-carcinoma-genetic-differences-and-potential-novel-therapeutic-targets
#7
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/27806309/targeted-ultra-deep-sequencing-unveils-a-lack-of-driver-gene-mutations-linking-non-hereditary-gastrointestinal-stromal-tumors-and-highly-prevalent-second-primary-malignancies-random-or-nonrandom-that-is-the-question
#8
Bo-Ru Lai, Yu-Tung Wu, Yung-Chia Kuo, Hung-Chih Hsu, Jen-Shi Chen, Tse-Ching Chen, Ren-Chin Wu, Cheng-Tang Chiu, Chun-Nan Yeh, Ta-Sen Yeh
The association of non-hereditary (sporadic) gastrointestinal stromal tumors (GISTs) and second primary malignancies is known to be nonrandom, although the underlying molecular mechanisms remain unknown. In this study, 136 of 749 (18.1%) patients with sporadic GISTs were found to have additional associated cancers, with gastrointestinal and genitourinary/gynecologic/breast cancers being the most prevalent. Gene mutations in GISTs and their associated colorectal cancers (CRCs) (n=9) were analyzed using a panel of 409 cancer-related genes, while a separate group of 40 sporadic CRCs not associated with GISTs served as controls...
October 4, 2016: Oncotarget
https://www.readbyqxmd.com/read/27803915/idiopathic-hypereosinophilic-syndrome-presenting-with-severe-vasculitis-successfully-treated-with-imatinib
#9
Paolo Fraticelli, Alain Kafyeke, Massimo Mattioli, Giuseppe Pio Martino, Marta Murri, Armando Gabrielli
Idiopathic hypereosinophilic syndrome (HES) is a rare disorder characterized by peripheral eosinophilia exceeding 1500/mm(3), a chronic course, absence of secondary causes, and signs and symptoms of eosinophil-mediated tissue injury. One of the best-characterized forms of HES is the one associated with FIP1L1-PDGFRA gene rearrangement, which was recently demonstrated as responsive to treatment with the small molecule kinase inhibitor drug, imatinib mesylate. Here, we describe the case of a 51-year-old male, whose symptoms satisfied the clinical criteria for HES with cutaneous and cardiac involvement and who also presented with vasculitic brain lesions and retroperitoneal bleeding...
October 16, 2016: World Journal of Clinical Cases
https://www.readbyqxmd.com/read/27793025/hedgehog-pathway-dysregulation-contributes-to-the-pathogenesis-of-human-gastrointestinal-stromal-tumors-via-gli-mediated-activation-of-kit-expression
#10
Chih-Min Tang, Tracy E Lee, Sabriya A Syed, Adam M Burgoyne, Stephanie Y Leonard, Fei Gao, Jonathan C Chan, Eileen Shi, Juliann Chmielecki, Deborah Morosini, Kai Wang, Jeffrey S Ross, Michael L Kendrick, Michael R Bardsley, Martina De Siena, Junhao Mao, Olivier Harismendy, Tamas Ordog, Jason K Sicklick
Gastrointestinal stromal tumors (GIST) arise within the interstitial cell of Cajal (ICC) lineage due to activating KIT/PDGFRA mutations. Both ICC and GIST possess primary cilia (PC), which coordinate PDGFRA and Hedgehog signaling, regulators of gastrointestinal mesenchymal development. Therefore, we hypothesized that Hedgehog signaling may be altered in human GIST and controls KIT expression. Quantitative RT-PCR, microarrays, and next generation sequencing were used to describe Hedgehog/PC-related genes in purified human ICC and GIST...
October 25, 2016: Oncotarget
https://www.readbyqxmd.com/read/27781423/malignant-glioma-with-primitive-neuroectodermal-tumor-like-component-mg-pnet-novel-microarray-findings-in-a-pediatric-patient
#11
Jinglan Liu, Matthew P Keisling, Ayman Samkari, Gregory Halligan, Judy M Pascasio, Christos D Katsetos
Central nervous system (CNS) tumors exhibiting dual features of malignant glioma (MG) and primitive neuroectodermal tumor (PNET) are rare and diagnostically challenging. Previous studies have shown that MG-PNET carry MYCN or MYC gene amplifications within the PNET component concomitant with glioma-associated alterations, most commonly 10q loss, in both components [9]. Here we confirm and extend the profile of molecular genetic findings in a MG-PNET involving the left frontal lobe of a 12-year-old male. Histologically, the PNET-like component showed morphological features akin to anaplastic medulloblastoma highlighted by widespread immunoreactivity for βIII-tubulin (TUBB3) and nonphosphorylated neurofilament protein, and to a lesser degree, Neu-N, synaptophysin, and CD99, whereas the gliomatous component was demarcated by glial fibrillary acidic protein (GFAP) labeling...
October 26, 2016: Clinical Neuropathology
https://www.readbyqxmd.com/read/27780189/changes-in-the-expression-of-mir-34a-and-its-target-genes-following-spinal-cord-injury-in-rats
#12
Ying Chen, Shuyan Cao, Pingping Xu, Wei Han, Tiankai Shan, Jingying Pan, Weiwei Lin, Xue Chen, Xiaodong Wang
BACKGROUND Results from DNA microarray experiments have shown that the expression of miR-34s undergoes significant changes following spinal cord injury (SCI). The present study was designed to detect changes in the expression of miR-34s and its target genes during the acute and sub-acute stages of SCI. MATERIAL AND METHODS Luxol fast blue (LFB) staining for myelin was used to observe the differences in the general morphology of the spinal cord after SCI in a contusion model in rats. qPCR was carried out to determine the expression variation of miR-34s and its target genes during the acute and sub-acute stages of SCI...
October 25, 2016: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/27777072/insights-into-ligand-stimulation-effects-on-gastro-intestinal-stromal-tumors-signalling
#13
Christelle Bahlawane, Martine Schmitz, Elisabeth Letellier, Karthik Arumugam, Nathalie Nicot, Petr V Nazarov, Serge Haan
Mutations in KIT or PDGFRA are responsible for >85% of gastrointestinal stromal tumors. The introduction of imatinib in the GIST therapy scheme revolutionized the patient outcome. Unfortunately, the therapy allows the disease stabilization instead of curation. Furthermore the resistance to the inhibitor arises in most cases within two first years of therapy. A thorough investigation of the signalling pathways activated by the major PDGFRA and KIT mutants encountered in the GIST landscape allowed to identify striking differences between the two receptor tyrosine kinases...
October 21, 2016: Cellular Signalling
https://www.readbyqxmd.com/read/27771229/comparative-study-on-driver-mutations-in-primary-and-metastatic-melanomas-at-a-single-japanese-institute-a-clue-for-intra-and-inter-tumor-heterogeneity
#14
Tatsuya Kaji, Osamu Yamasaki, Minoru Takata, Masaki Otsuka, Toshihisa Hamada, Shin Morizane, Kenji Asagoe, Hiroyuki Yanai, Yoji Hirai, Hiroshi Umemura, Keiji Iwatsuki
BACKGROUND: Searching for driver mutations in melanoma is critical to understanding melanoma genesis, progression and response to therapy. OBJECTIVES: We aimed to investigate the frequency and pattern of driver mutations in Japanese primary and metastatic melanomas including cases of unknown primary origin, in relation to their clinicopathologic manifestations. METHODS: Seventy-seven samples from 60 patients with melanoma were screened for 70 driver mutations of 20 oncogenes by Sequenom MelaCarta MassARRAY, and the results for primary and metastatic melanomas were compared...
October 13, 2016: Journal of Dermatological Science
https://www.readbyqxmd.com/read/27753268/prognostic-significance-of-kit-exon-11-deletion-mutation-in-intermediate-risk-gastrointestinal-stromal-tumor
#15
Richard Quek, Mohamad Farid, Yada Kanjanapan, Cindy Lim, Iain Beehuat Tan, Sittampalam Kesavan, Tony Kiat Hon Lim, Lynette Lin-Ean Oon, Brian Kp Goh, Weng Hoong Chan, Melissa Teo, Alexander Yf Chung, Hock Soo Ong, Wai Keong Wong, Patrick Tan, Desmond Yip
AIM: Benefit of adjuvant imatinib therapy following curative resection in patients with intermediate-risk gastrointestinal stromal tumor (GIST) is unclear. GIST-specific exon mutations, in particular exon 11 deletions, have been shown to be prognostic. We hypothesize that specific KIT mutations may improve risk stratification in patients with intermediate-risk GIST, identifying a subgroup of patients who may benefit from adjuvant therapy. METHODS: In total, 142 GIST patients with complete clinicopathologic and mutational data from two sites were included...
October 17, 2016: Asia-Pacific Journal of Clinical Oncology
https://www.readbyqxmd.com/read/27750396/impaired-oligodendroglial-turnover-is-associated-with-myelin-pathology-in-focal-cortical-dysplasia-and-tuberous-sclerosis-complex
#16
Theresa Scholl, Angelika Mühlebner, Gerda Ricken, Victoria Gruber, Anna Fabing, Sharon Samueli, Gudrun Gröppel, Christian Dorfer, Thomas Czech, Johannes A Hainfellner, Avanita S Prabowo, Roy J Reinten, Lisette Hoogendijk, Jasper J Anink, Eleonora Aronica, Martha Feucht
Conventional antiepileptic drugs suppress the excessive firing of neurons during seizures. In drug-resistant patients, treatment failure indicates an alternative important epileptogenic trigger. Two epilepsy-associated pathologies show myelin deficiencies in seizure-related brain regions: Focal Cortical Dysplasia IIB (FCD) and cortical tubers in Tuberous Sclerosis Complex (TSC). Studies uncovering white matter-pathology mechanisms are therefore urgently needed to gain more insight into epileptogenesis, the propensity to maintain seizures, and their associated comorbidities such as cognitive defects...
October 17, 2016: Brain Pathology
https://www.readbyqxmd.com/read/27722133/chronic-eosinophilic-leukemia-with-fip1l1-pdgfra-rearrangement
#17
Tae Hee Kim, Hyun Jung Gu, Woo-In Lee, Juhie Lee, Hwi-Joong Yoon, Tae Sung Park
No abstract text is available yet for this article.
September 2016: Blood Research
https://www.readbyqxmd.com/read/27703281/identification-of-differentially-expressed-kinase-and-screening-potential-anticancer-drugs-in-papillary-thyroid-carcinoma
#18
Huairong Zhang, Bo Gao, Bingyin Shi
Aim. We aim to identify protein kinases involved in the pathophysiology of papillary thyroid carcinoma (PTC) in order to provide potential therapeutic targets for kinase inhibitors and unfold possible molecular mechanisms. Materials and Methods. The gene expression profile of GSE27155 was analyzed to identify differentially expressed genes and mapped onto human protein kinases database. Correlation of kinases with PTC was addressed by systematic literature search, GO and KEGG pathway analysis. Results. The functional enrichment analysis indicated that "mitogen-activated protein kinases pathway" expression was extremely enriched, followed by "neurotrophin signaling pathway," "focal adhesion," and "GnRH signaling pathway...
2016: Disease Markers
https://www.readbyqxmd.com/read/27701467/germline-variants-of-prostate-cancer-in-japanese-families
#19
Takahide Hayano, Hiroshi Matsui, Hirofumi Nakaoka, Nobuaki Ohtake, Kazuyoshi Hosomichi, Kazuhiro Suzuki, Ituro Inoue
Prostate cancer (PC) is the second most common cancer in men. Family history is the major risk factor for PC. Only two susceptibility genes were identified in PC, BRCA2 and HOXB13. A comprehensive search of germline variants for patients with PC has not been reported in Japanese families. In this study, we conducted exome sequencing followed by Sanger sequencing to explore responsible germline variants in 140 Japanese patients with PC from 66 families. In addition to known susceptibility genes, BRCA2 and HOXB13, we identified TRRAP variants in a mutually exclusive manner in seven large PC families (three or four patients per family)...
2016: PloS One
https://www.readbyqxmd.com/read/27698973/molecular-and-immunohistochemical-study-of-platelet-derived-growth-factor-receptor-alpha-in-kit-negative-gastrointestinal-stromal-tumors-the-first-report-from-iran
#20
Bita Geramizadeh, Zahra Jowkar, Seyed-Javad Mousavi
: BACKGROUND Gastrointestinal stromal tumors (GISTs) are potentially malignant tumors; however their behavior and response to treatment is dependent on the type of mutation and immunohistochemical expression of antigens. It is recommended to perform routine molecular and immunohistochemical tests in KIT and platelet derived growth factor receptor alpha (PDGFRA) molecules for making decision regarding targeted therapy and prediction of the behavior of the tumor. OBJECTIVES: There has been no study from Iran regarding the PDGFRA mutational analysis in GISTs...
July 2016: Middle East Journal of Digestive Diseases
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