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https://www.readbyqxmd.com/read/28334876/pdgfrb-gain-of-function-mutations-in-sporadic-infantile-myofibromatosis
#1
Florence A Arts, Raf Sciot, Bénédicte Brichard, Marleen Renard, Audrey de Rocca Serra, Guillaume Dachy, Laura A Noël, Amélie I Velghe, Christine Galant, Maria Debiec-Rychter, An Van Damme, Miikka Vikkula, Raphaël Helaers, Nisha Limaye, Hélène A Poirel, Jean-Baptiste Demoulin
Infantile myofibromatosis is one of the most prevalent soft tissue tumors of infancy and childhood. Multifocal nodules with visceral lesions are associated with a poor prognosis. A few familial cases have been linked to mutations in various genes including PDGFRB. In this study, we sequenced PDGFRB, which encodes a receptor tyrosine kinase, in 16 cases of myofibromatosis or solitary myofibroma. Mutations in the coding sequence of PDGFRB were identified in 6 out of 8 patients with the sporadic multicentric form of the disease and in 1 out of 8 patients with isolated myofibroma...
March 3, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28327445/nine-differentially-expressed-genes-from-a-post-mortem-study-and-their-association-with-suicidal-status-in-a-sample-of-suicide-completers-attempters-and-controls
#2
Martina Balestri, Concetta Crisafulli, Luigi Donato, Ina Giegling, Raffaella Calati, Niki Antypa, Barbara Schneider, Dragan Marusic, Maria Eugenia Tarozzi, Dorjan Marusic, Metka Paragi, Annette M Hartmann, Bettina Konte, Agnese Marsano, Alessandro Serretti, Dan Rujescu
Several lines of evidence indicate that suicidal behaviour is partly heritable, with multiple genes implicated in its aetiology. We focused on nine genes (S100A13, EFEMP1, PCDHB5, PDGFRB, CDCA7L, SCN2B, PTPRR, MLC1 and ZFP36) which we previously detected as differentially expressed in the cortex of suicide victims compared to controls. We investigated 84 variants within these genes in 495 suicidal subjects (299 completers and 196 attempters) and 1513 controls (109 post-mortem and 1404 healthy). We evaluated associations with: 1) suicidal phenotype; 2) possible endophenotypes for suicidal behaviour...
March 10, 2017: Journal of Psychiatric Research
https://www.readbyqxmd.com/read/28315338/lymphatic-and-vascular-markers-in-an-optic-nerve-crush-model-in-rat
#3
A Trost, D Bruckner, A Kaser-Eichberger, K Motloch, B Bogner, C Runge, C Strohmaier, S Couillard-Despres, H A Reitsamer, F Schroedl
Only few tissues lack lymphatic supply, such as the CNS or the inner eye. However, if the scleral border is compromised due to trauma or tumor, lymphatics are detected in the eye. Since the situation in the optic nerve (ON), part of the CNS, is not clear, the aim of this study is to screen for the presence of lymphatic markers in the healthy and lesioned ON. Brown Norway rats received an unilateral optic nerve crush (ONC) with defined force, leaving the dura intact. Lesioned ONs and unlesioned contralateral controls were analyzed 7 days (n = 5) and 14 days (n = 5) after ONC, with the following markers: PDGFRb (pericyte), Iba1 (microglia), CD68 (macrophages), RECA (endothelial cell), GFAP (astrocyte) as well as LYVE-1 and podoplanin (PDPN; lymphatic markers)...
March 14, 2017: Experimental Eye Research
https://www.readbyqxmd.com/read/28303467/mir-9-5p-down-regulates-pit2-but-not-pit1-in-human-embryonic-kidney-293-cells
#4
D P Paiva, M Keasey, J R M Oliveira
Inorganic phosphate (Pi) is an essential component for structure and metabolism. PiT1 (SLC20A1) and PiT2 (SLC20A2) are members of the mammalian type-III inorganic phosphate transporters. SLC20A2 missense variants are associated with primary brain calcification. MicroRNAs (miRNAs) are endogenous noncoding regulatory RNAs, which play important roles in post-transcriptional gene regulation. MicroRNA-9 (miR-9) acts at different stages of neurogenesis, is deeply rooted in gene networks controlling the regulation of neural progenitor proliferation, and is also linked with cancers outside the nervous system...
March 16, 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/28300161/foxo-transcription-factors-protect-against-the-diet-induced-fatty-liver-disease
#5
Xiaoyan Pan, Yang Zhang, Hyeong-Geug Kim, Suthat Liangpunsakul, X Charlie Dong
Forkhead O transcription factors (FOXOs) have been implicated in glucose and lipid homeostasis; however, the role of FOXOs in the development of nonalcoholic fatty liver disease (NAFLD) is not well understood. In this study, we designed experiments to examine the effects of two different diets-very high fat diet (HFD) and moderately high fat plus cholesterol diet (HFC)-on wildtype (WT) and liver-specific Foxo1/3/4 triple knockout mice (LTKO). Both diets induced severe hepatic steatosis in the LTKO mice as compared to WT controls...
March 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28298627/novel-mutations-of-pdgfrb-cause-primary-familial-brain-calcification-in-chinese-families
#6
Chong Wang, Xiang-Ping Yao, Hai-Ting Chen, Jing-Hui Lai, Xin-Xin Guo, Hui-Zhen Su, En-Lin Dong, Qi-Jie Zhang, Ning Wang, Wan-Jin Chen
Four causative genes, including solute carrier family 20 member 2 (SLC20A2), platelet-derived growth factor receptor b (PDGFRB), platelet-derived growth factor b (PDGFB)and xenotropic and polytropic retrovirus receptor 1 (XPR1), have been identified to cause primary familial brain calcification (PFBC). However, PDGFRB mutations seem to be quite rare and no PDGFRB mutations have been reported in Chinese PFBC patients. A total of 146 PFBC patients including 12 families and 134 sporadic patients were recruited in this study...
March 16, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28298363/mutual-interaction-between-endothelial-cells-and-mural-cells-enhances-bmp9-signaling-in-endothelial-cells
#7
Yuki Tachida, Nanae Izumi, Toyo Sakurai, Hideki Kobayashi
Hereditary hemorrhagic telangiectasia is characterized by the formation of abnormal vascular networks and caused by the mutation of genes involved in BMP9 signaling. It is also known that the interaction between endothelial cells (ECs) and mural cells (MCs) is critical to maintain vessel integrity. However, it has not yet fully been uncovered whether the EC-MC interaction affects BMP9 signaling or not. To elucidate this point, we analyzed BMP9 signaling in a co-culture of several types of human primary culture ECs and MCs...
March 15, 2017: Biology Open
https://www.readbyqxmd.com/read/28281307/integrated-expression-analysis-identifies-transcription-networks-in-mouse-and-human-gastric-neoplasia
#8
Zheng Chen, Mohammed Soutto, Bushra Rahman, Muhammad W Fazili, DunFa Peng, Maria Blanca Piazuelo, Heidi Chen, M Kay Washington, Yu Shyr, Wael El-Rifai
Gastric cancer is a leading cause of cancer-related deaths worldwide. The Tff1 knockout (KO) mouse model develops gastric lesions that include low-grade dysplasia (LGD), high-grade dysplasia (HGD), and adenocarcinomas. In this study, we used Affymetrix microarrays gene expression platforms for analysis of molecular signatures in the mouse stomach (Tff1-KO (LGD) and Tff1 wild-type (normal)) and human gastric cancer tissues and their adjacent normal tissue samples. Combined integrated bioinformatics analysis of mouse and human datasets indicated that 172 genes were consistently deregulated in both human gastric cancer samples and Tff1-KO LGD lesions (P<0...
March 9, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28276839/visualization-of-vascular-mural-cells-in-developing-brain-using-genetically-labeled-transgenic-reporter-mice
#9
Bongnam Jung, Thomas D Arnold, Elisabeth Raschperger, Konstantin Gaengel, Christer Betsholtz
The establishment of a fully functional blood vascular system requires elaborate angiogenic and vascular maturation events in order to fulfill organ-specific anatomical and physiological needs. Although vascular mural cells, i.e. pericytes and vascular smooth muscle cells, are known to play fundamental roles during these processes, their characteristics during vascular development remain incompletely understood. In this report, we utilized transgenic reporter mice in which mural cells are genetically labeled to examine developing vascular mural cells in the central nervous system (CNS)...
January 1, 2017: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/28263720/simvastatin-down-regulates-differential-genetic-profiles-produced-by-organochlorine-mixtures-in-primary-breast-cell-hmec
#10
Javier Rivero, Luis Alberto Henríquez-Hernández, Luis D Boada, Jose Pestano, Octavio P Luzardo, María Camacho, Manuel Zumbado, Pilar F Valerón
Women all over the world are exposed to an unavoidable contamination by organochlorine pesticides and other chemical pollutants. Many of them are considered as xenoestrogens and have been associated with the development and progression of breast cancer. We have demonstrated that the most prevalent pesticide mixtures found in healthy women and in women diagnosed with breast cancer modulates the gene expression in human epithelial mammary cells. Statins are well-known cholesterol-depleting agents acting as inhibitors of cholesterol synthesis...
March 2, 2017: Chemico-biological Interactions
https://www.readbyqxmd.com/read/28261327/multiple-myo18a-pdgfrb-fusion-transcripts-in-a-myeloproliferative-neoplasm-patient-with-t-5-17-q32-q11
#11
Guangying Sheng, Zhao Zeng, Jinlan Pan, Linbing Kou, Qinrong Wang, Hong Yao, Lijun Wen, Liang Ma, Depei Wu, Huiying Qiu, Suning Chen
BACKGROUND: Myeloproliferative neoplasms (MPNs), typically defined by myeloid proliferation and eosinophilia, and are only rarely caused by platelet-derived growth factor receptor beta (PDGFRB) gene rearrangements. CASE PRESENTATION: Here, we report a unique case of MPN that is negative for eosinophilia and characterized by a novel PDGFRB rearrangement. After cytogenetic analysis revealed a karyotype of t(5;17) (q32;q11), we used fluorescence in situ hybridization to specifically identify the PDGFRB gene at 5q31-q33 as the gene that had been translocated...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28183292/case-report-rapid-and-durable-response-to-pdgfr-targeted-therapy-in-a-child-with-refractory-multiple-infantile-myofibromatosis-and-a-heterozygous-germline-mutation-of-the-pdgfrb-gene
#12
Peter Mudry, Ondrej Slaby, Jakub Neradil, Jana Soukalova, Kristyna Melicharkova, Ondrej Rohleder, Marta Jezova, Anna Seehofnerova, Elleni Michu, Renata Veselska, Jaroslav Sterba
BACKGROUND: Infantile myofibromatosis belongs to a family of soft tissue tumors. The majority of these tumors have benign behavior but resistant and malignant courses are known, namely in tumors with visceral involvement. The standard of care is surgical resection. Observations suggest that low dose chemotherapy is beneficial. The treatment of resistant or relapsed patients with multifocal disease remains challenging. Patients that harbor an actionable mutation in the kinase domain are potential subjects for targeted tyrosine kinase inhibitor therapy...
February 10, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28179256/zebrafish-mesonephric-renin-cells-are-functionally-conserved-and-comprise-of-two-distinct-morphological-populations
#13
Sebastien A Rider, Helen C Christian, Linda J Mullins, Amelia R Howarth, Calum A MacRae, John J Mullins
Zebrafish provide an excellent model in which to assess the role of the renin-angiotensin system in renal development, injury and repair. In contrast to mammals, zebrafish kidney organogenesis terminates with the mesonephros. Despite this, the basic functional structure of the nephron is conserved across vertebrates. The relevance of teleosts for studies relating to the regulation of the renin-angiotensin system was established by assessing the phenotype and functional regulation of renin-expressing cells in zebrafish...
February 8, 2017: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/28162874/deconstructing-fahr-s-disease-syndrome-of-brain-calcification-in-the-era-of-new-genes
#14
REVIEW
Amit Batla, Xin You Tai, Lucia Schottlaender, Robert Erro, Bettina Balint, Kailash P Bhatia
INTRODUCTION: There are now a number genes, known to be associated with familial primary brain calcification (PFBC), causing the so called 'Fahr's' disease or syndrome. These are SCL20A2, PDGFB, PDGFRB and XPR1. In this systematic review, we analyse the clinical and radiological features reported in genetically confirmed cases with PFBC. We have additionally reviewed pseudohypoparathyroidism which is a close differential diagnosis of PFBC in clinical presentation and is also genetically determined...
December 27, 2016: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28151041/differing-associations-between-a%C3%AE-accumulation-hypoperfusion-blood-brain-barrier-dysfunction-and-loss-of-pdgfrb-pericyte-marker-in-the-precuneus-and-parietal-white-matter-in-alzheimer-s-disease
#15
J Scott Miners, Isabel Schulz, Seth Love
Recent studies implicate loss of pericytes in hypoperfusion and blood-brain barrier (BBB) leakage in Alzheimer's disease (AD). In this study, we have measured levels of the pericyte marker, platelet-derived growth factor receptor-β (PDGFRB), and fibrinogen (to assess blood-brain barrier leakage), and analyzed their relationship to indicators of microvessel density (von Willebrand factor level), ante-mortem oxygenation (myelin-associated glycoprotein:proteolipid protein-1 ratio and vascular endothelial growth factor level), Aβ level and plaque load, in precuneus and underlying white matter from 49 AD to 37 control brains...
January 1, 2017: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/28147311/satb1-plays-an-oncogenic-role-in-esophageal-cancer-by-up-regulation-of-fn1-and-pdgfrb
#16
Guiqin Song, Kang Liu, Xiaolin Yang, Bo Mu, Junbao Yang, Lang He, Xin Hu, Qiujiang Li, Yunxia Zhao, Xiaoming Cai, Gang Feng
Esophageal cancer is a highly aggressive malignancy with very poor overall prognosis. Given the strong clinical relevance of SATB1 in esophagus cancer and other cancers suggested by previous studies, the exact function of SATB1 in esophagus cancer development is still unknown. Here we showed that the knockdown of SATB1 in esophageal cancer cell lines diminished the cell proliferation, survival and invasion. Whole genome transcriptome analysis of SATB1 knockdown cells revealed the different gene expression profiles between TE-1 cells and MDA-MB-231 cells...
January 27, 2017: Oncotarget
https://www.readbyqxmd.com/read/28122789/pdgfr%C3%AE-regulates-adipose-tissue-expansion-and-glucose-metabolism-via-vascular-remodeling-in-diet-induced-obesity
#17
Yasuhiro Onogi, Tsutomu Wada, Chie Kamiya, Kento Inata, Takatoshi Matsuzawa, Yuka Inaba, Kumi Kimura, Hiroshi Inoue, Seiji Yamamoto, Yoko Ishii, Daisuke Koya, Hiroshi Tsuneki, Masakiyo Sasahara, Toshiyasu Sasaoka
Platelet-derived growth factor (PDGF) is a key factor of angiogenesis; however, its role in adult obesity remains unclear. In order to clarify its pathophysiological role, we investigated the significance of a PDGF receptor β on adipose tissue expansion and glucose metabolism. Mature vessels in the epididymal white adipose tissue (eWAT) were tightly wrapped with pericytes in normal mice. Pericytes desorption from vessels and the subsequent proliferations of endothelial cells were markedly increased in the eWAT of diet-induced obese mice...
January 25, 2017: Diabetes
https://www.readbyqxmd.com/read/28097511/brain-calcification-and-movement-disorders
#18
REVIEW
Vladimir S Kostić, Igor N Petrović
Brain calcifications may be an incidental finding on neuroimaging in normal, particularly older individuals, but can also indicate numerous hereditary and nonhereditary syndromes, and metabolic, environmental, infectious, autoimmune, mitochondrial, traumatic, or toxic disorders. Bilateral calcifications most commonly affecting the basal ganglia may often be found in idiopathic cases, and a new term, primary familial brain calcification (PFBC), has been proposed that recognizes the genetic causes of the disorder and that calcifications occurred well beyond the basal ganglia...
January 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28045622/use-of-minimal-residual-disease-assessment-to-redefine-induction-failure-in-pediatric-acute-lymphoblastic-leukemia
#19
David O'Connor, Anthony V Moorman, Rachel Wade, Jeremy Hancock, Ronald M R Tan, Jack Bartram, John Moppett, Claire Schwab, Katharine Patrick, Christine J Harrison, Rachael Hough, Nick Goulden, Ajay Vora, Sujith Samarasinghe
Purpose Our aim was to determine the role of end-of-induction (EOI) minimal residual disease (MRD) assessment in the identification and stratification of induction failure in patients with pediatric acute lymphoblastic leukemia (ALL) and to identify genetic abnormalities that drive disease in these patients. Patients and Methods Analysis included 3,113 patients who were treated in the Medical Research Council UKALL2003 multicenter randomized trial (NCT00222612) between 2003 and 2011. MRD was measured by using standardized real-time quantitative PCR...
February 20, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28028030/myeloid-neoplasms-with-eosinophilia
#20
REVIEW
Andreas Reiter, Jason Gotlib
Molecular diagnostics has generated substantial dividends in dissecting the genetic basis of myeloid neoplasms with eosinophilia. The family of diseases generated by dysregulated fusion tyrosine kinase (TK) genes is recognized by the World Health Organization (WHO) category, "Myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2" In addition to myeloproliferative neoplasms (MPN), these patients can present with myelodysplastic syndrome/MPN, as well as de novo or secondary mixed-phenotype leukemias or lymphomas...
February 9, 2017: Blood
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