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https://www.readbyqxmd.com/read/28073911/a-truncated-g-csfr-inhibits-apoptosis-induced-by-neutrophil-elastase-g185r-mutant-implication-for-understanding-csf3r-mutations-in-severe-congenital-neutropenia
#1
Yaling Qiu, Yangyang Zhang, Nan Hu, Fan Dong
Mutations in ELANE encoding neutrophil elastase (NE) have been identified in the majority of patients with severe congenital neutropenia (SCN). The NE mutants have been shown to activate unfolded protein response (UPR) and induce premature apoptosis in myeloid cells. Patients with SCN are predisposed to acute myeloid leukemia (AML), and progression from SCN to AML is accompanied by mutations in CSF3R encoding the G-CSF receptor (G-CSFR) in approximately 80% patients. The mutations result in the expression of C-terminally truncated G-CSFRs that promote strong cell proliferation and survival...
January 10, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28057676/maxson-je-ries-re-wang-y-c-et-al-csf3r-mutations-have-a-high-degree-of-overlap-with-cebpa-mutations-in-pediatric-aml-blood-2016-127-24-3094-3098
#2
(no author information available yet)
No abstract text is available yet for this article.
January 5, 2017: Blood
https://www.readbyqxmd.com/read/28031554/enhanced-mapk-signaling-is-essential-for-csf3r-induced-leukemia
#3
S Rohrabaugh, M Kesarwani, Z Kincaid, E Huber, J Leddonne, Z Siddiqui, Y Khalifa, K Komurov, H L Grimes, M Azam
Both membrane-proximal and truncation mutations in CSF3R have recently been reported to drive the onset of chronic neutrophilic leukemia (CNL). Here we show that although truncation mutation alone can not induce leukemia, both proximal and compound mutations (proximal and truncation mutations on same allele) are leukemogenic with a disease latency of 90 and 23 days, respectively. Comparative whole-genome expression profiling and biochemical experiments revealed that induced expression of Mapk adaptor protein Ksr1 and enhanced Mapk signaling are crucial to leukemogenesis by CSF3R proximal and compound mutants...
December 29, 2016: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28028025/genomics-of-chronic-neutrophilic-leukemia
#4
Julia E Maxson, Jeffrey W Tyner
Chronic neutrophilic leukemia (CNL) is a distinct myeloproliferative neoplasm with a high prevalence (>80%) of mutations in the Colony Stimulating Factor 3 Receptor (CSF3R). These mutations activate the receptor, leading to the proliferation of neutrophils that are a hallmark of CNL. Recently, the World Health Organization (WHO) guidelines have been updated to include CSF3R mutations as a part of the diagnostic criteria for CNL. Due to the high prevalence of CSF3R mutations in CNL, it is tempting to think of this disease as being solely driven by this genetic lesion...
December 27, 2016: Blood
https://www.readbyqxmd.com/read/27984087/genomic-and-genetic-studies-of-systemic-sclerosis-a-systematic-review
#5
REVIEW
Paraskevi Chairta, Paschalis Nicolaou, Kyproula Christodoulou
Systemic Sclerosis is an autoimmune rheumatic disease characterised by fibrosis, vasculopathy and inflammation. The exact aetiology of SSc remains unknown but evidences show that various genetic factors may be involved. This review aimed to assess HLA alleles/non-HLA polymorphisms, microsatellites and chromosomal abnormalities that have thus far been associated with SSc. PubMed, Embase and Scopus databases were searched up to July 29, 2015 using a combination of search-terms. Articles retrieved were evaluated based on set exclusion and inclusion criteria...
October 28, 2016: Human Immunology
https://www.readbyqxmd.com/read/27789332/granulocyte-colony-stimulating-factor-receptor-signaling-in-severe-congenital-neutropenia-chronic-neutrophilic-leukemia-and-related-malignancies
#6
REVIEW
Pankaj Dwivedi, Kenneth D Greis
Granulocyte colony-stimulating factor is a hematopoietic cytokine that stimulates neutrophil production and hematopoietic stem cell mobilization by initiating the dimerization of homodimeric granulocyte colony-stimulating factor receptor. Different mutations of CSF3R have been linked to a unique spectrum of myeloid disorders and related malignancies. Myeloid disorders caused by the CSF3R mutations include severe congenital neutropenia, chronic neutrophilic leukemia, and atypical chronic myeloid leukemia. In this review, we provide an analysis of granulocyte colony-stimulating factor receptor, various mutations, and their roles in the severe congenital neutropenia, chronic neutrophilic leukemia, and malignant transformation, as well as the clinical implications and some perspective on approaches that could expand our knowledge with respect to the normal signaling mechanisms and those associated with mutations in the receptor...
February 2017: Experimental Hematology
https://www.readbyqxmd.com/read/27716741/expression-of-calr-mutants-causes-mpl-dependent-thrombocytosis-in-zebrafish
#7
K-H Lim, Y-C Chang, Y-H Chiang, H-C Lin, C-Y Chang, C-S Lin, L Huang, W-T Wang, C Gon-Shen Chen, W-C Chou, Y-Y Kuo
CALR mutations are identified in about 30% of JAK2/MPL-unmutated myeloproliferative neoplasms (MPNs) including essential thrombocythemia (ET) and primary myelofibrosis. Although the molecular pathogenesis of CALR mutations leading to MPNs has been studied using in vitro cell lines models, how mutant CALR may affect developmental hematopoiesis remains unknown. Here we took advantage of the zebrafish model to examine the effects of mutant CALR on early hematopoiesis and model human CALR-mutated MPNs. We identified three zebrafish genes orthologous to human CALR, referred to as calr, calr3a and calr3b...
October 7, 2016: Blood Cancer Journal
https://www.readbyqxmd.com/read/27587251/-chronic-neutrophilic-leukemia-complicated-with-multiple-myeloma-two-cases-report-and-literature-review
#8
B Jiang, J Y Qi, Q H Li, Y Xu, M Y Sun, W W Zheng, F Chen, L G Qiu
OBJECTIVE: To explored the diagnosis and treatment of chronic neutrophilic leukemia (CNL) complicated with multiple myeloma (MM). METHODS: The clinical features and molecular biological characteristics of 2 patients with CNL complicated with MM were summarized, and the diagnosis and treatment of the patients were retrospectively reviewed. RESULTS: The diagnosis of CNL complicated with MM was established in 2 cases. Case 1 had CSF3R mutation (P733T), but CSF3R-exon 14 mutation and SETBP1 mutation were all negative...
August 14, 2016: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/27581359/chronic-neutrophilic-leukemia-in-a-child-with-a-csf3r-t618i-germline-mutation
#9
Lawrence J Druhan, Daniel P McMahon, Nury Steuerwald, Andrea E Price, Amanda Lance, Jonathan M Gerber, Belinda R Avalos
No abstract text is available yet for this article.
August 31, 2016: Blood
https://www.readbyqxmd.com/read/27544379/granulocyte-colony-stimulating-factor-ameliorates-skeletal-muscle-dysfunction-in-amyotrophic-lateral-sclerosis-mice-and-improves-proliferation-of-sod1-g93a-myoblasts-in-vitro
#10
Amaya Rando, Samanta Gasco, Miriam de la Torre, Alberto García-Redondo, Pilar Zaragoza, Janne M Toivonen, Rosario Osta
BACKGROUND: Amyotrophic lateral sclerosis (ALS) causes loss of upper and lower motor neurons as well as skeletal muscle (SKM) dysfunction and atrophy. SKM is one of the tissues involved in the development of ALS pathology, and studies in a SOD1-G93A mouse model of ALS have demonstrated alterations in SKM degeneration/regeneration marker expression in vivo and defective mutant myoblast proliferation in vitro. Granulocyte colony-stimulating factor (G-CSF) has been shown to alleviate SOD1-G93A pathology...
August 20, 2016: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/27534448/immunomodulation-by-gastrointestinal-carbon-black-nanoparticle-exposure-in-ovalbumin-t-cell-receptor-transgenic-mice
#11
Jason H Fine, Genevieve S Bondy, Laurie Coady, Bevan Pearce, Nikia Ross, Azam F Tayabali, Sabina Halappanavar, Don Caldwell, Ivan Curran, David E Lefebvre
Humans could become exposed to carbon black nanoparticles (CBNPs) in consumer products or an occupational setting. In rodent models, acute respiratory, subcutaneous, and direct immune cell exposure to CBNPs has been shown to enhance allergic sensitization to co-administered ovalbumin (OVA) protein from chicken egg. However, little is known about the effects of ingested CBNPs on immunological responses and oral tolerance to food antigens. We hypothesized that ingestion of CBNPs would enhance the development of food allergy to OVA...
September 9, 2016: Nanotoxicology
https://www.readbyqxmd.com/read/27465399/short-telomere-length-and-its-correlation-with-gene-mutations-in-myelodysplastic-syndrome
#12
Sang Mee Hwang, Seon Young Kim, Jung Ah Kim, Hee-Sue Park, Si Nae Park, Kyongok Im, Kwantae Kim, Sung-Min Kim, Dong Soon Lee
BACKGROUND: Telomere erosion can lead to genomic instability and cancer progression. It has been suggested that the shortest telomere, not the average telomere length (TL), is critical for cell viability. Some studies have shown shorter TL in myelodysplastic syndrome (MDS) patients but the critically short telomeres, the variability of TL within individual patient has not been evaluated. Thus, we aimed to investigate the TL of MDS patients and assessed the association of TL with recurrent genetic mutations in MDS...
2016: Journal of Hematology & Oncology
https://www.readbyqxmd.com/read/27297623/mef2c-and-cebpa-possible-co-regulators-in-chronic-myeloid-leukemia-disease-progression
#13
Subramaniam Agatheeswaran, Soumen Chakraborty
Chronic myelogenous leukemia (CML), a hematopoietic malignancy, characterized initially by a chronic phase (CP) progresses into blast crisis (BC) with the accumulation of secondary abnormalities. We have reported earlier that MEF2C, a target of miR-223, was significantly up regulated in CML and also showed a negative correlation with miR-223. In this study, gene expression arrays were used to identify the genes regulated by MEF2C during myelopoiesis. Statistical tools were used to understand the correlation between MEF2C and the targets in different phases of CML...
August 2016: International Journal of Biochemistry & Cell Biology
https://www.readbyqxmd.com/read/27270496/role-of-csf3r-mutations-in-the-pathomechanism-of-congenital-neutropenia-and-secondary-acute-myeloid-leukemia
#14
Maksim Klimiankou, Sabine Mellor-Heineke, Cornelia Zeidler, Karl Welte, Julia Skokowa
Acquired mutations in the intracellular part of CSF3R (colony stimulating factor 3 receptor, granulocyte) have been detected with a frequency of more than 30% in severe congenital neutropenia (CN) patients. CN is a preleukemic syndrome with a risk of approximately 20% to develop leukemia. More than 80% of CN patients who develop acute myeloid leukemia or myelodysplastic syndrome reveal CSF3R mutations, suggesting that they are involved in leukemogenesis. Using deep-sequencing technology, we were able to analyze large cohorts of CN patients for the entire CSF3R sequence as well as to identify cell clones carrying mutations in the intracellular part of CSF3R with very high sensitivity...
April 2016: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/27148573/complete-hematologic-response-of-early-t-cell-progenitor-acute-lymphoblastic-leukemia-to-the-%C3%AE-secretase-inhibitor-bms-906024-genetic-and-epigenetic-findings-in-an-outlier-case
#15
Birgit Knoechel, Ami Bhatt, Li Pan, Chandra S Pedamallu, Eric Severson, Alejandro Gutierrez, David M Dorfman, Frank C Kuo, Michael Kluk, Andrew L Kung, Patrick Zweidler-McKay, Matthew Meyerson, Stephen C Blacklow, Daniel J DeAngelo, Jon C Aster
Notch pathway antagonists such as γ-secretase inhibitors (GSIs) are being tested in diverse cancers, but exceptional responses have yet to be reported. We describe the case of a patient with relapsed/refractory early T-cell progenitor acute lymphoblastic leukemia (ETP-ALL) who achieved a complete hematologic response following treatment with the GSI BMS-906024. Whole-exome sequencing of leukemic blasts revealed heterozygous gain-of-function driver mutations in NOTCH1, CSF3R, and PTPN11, and a homozygous/hemizygous loss-of-function mutation in DNMT3A...
October 2015: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/27143256/csf3r-mutations-have-a-high-degree-of-overlap-with-cebpa-mutations-in-pediatric-aml
#16
LETTER
Julia E Maxson, Rhonda E Ries, Yi-Cheng Wang, Robert B Gerbing, E Anders Kolb, Sarah L Thompson, Jaime M Guidry Auvil, Marco A Marra, Yussanne Ma, Zusheng Zong, Andrew J Mungall, Richard Moore, William Long, Patee Gesuwan, Tanja M Davidsen, Leandro C Hermida, Seamus B Hughes, Jason E Farrar, Jerald P Radich, Malcolm A Smith, Daniela S Gerhard, Alan S Gamis, Todd A Alonzo, Soheil Meshinchi
No abstract text is available yet for this article.
June 16, 2016: Blood
https://www.readbyqxmd.com/read/27056979/identification-of-new-molecular-alterations-in-fatal-familial-insomnia
#17
Franc Llorens, Katrin Thüne, Matthias Schmitz, Belén Ansoleaga, Margalida A Frau-Méndez, Maria Cramm, Waqas Tahir, Nadine Gotzmann, Sara Berjaoui, Margarita Carmona, Christopher J Silva, Ivan Fernandez-Vega, Juan José Zarranz, Inga Zerr, Isidro Ferrer
Fatal familial insomnia is a rare disease caused by a D178N mutation in combination with methionine (Met) at codon 129 in the mutated allele of PRNP (D178N-129M haplotype). FFI is manifested by sleep disturbances with insomnia, autonomic disorders and spontaneous and evoked myoclonus, among other symptoms. This study describes new neuropathological and biochemical observations in a series of eight patients with FFI. The mediodorsal and anterior nuclei of the thalamus have severe neuronal loss and marked astrocytic gliosis in every case, whereas the entorhinal cortex is variably affected...
April 7, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27034432/chemo-genomic-interrogation-of-cebpa-mutated-aml-reveals-recurrent-csf3r-mutations-and-subgroup-sensitivity-to-jak-inhibitors
#18
Vincent-Philippe Lavallée, Jana Krosl, Sébastien Lemieux, Geneviève Boucher, Patrick Gendron, Caroline Pabst, Isabel Boivin, Anne Marinier, Cynthia J Guidos, Sylvain Meloche, Josée Hébert, Guy Sauvageau
In this study, we analyzed RNA-sequencing data of 14 samples characterized by biallelic CEBPA (CEBPA(bi)) mutations included in the Leucegene collection of 415 primary acute myeloid leukemia (AML) specimens, and describe for the first time high frequency recurrent mutations in the granulocyte colony-stimulating factor receptor gene CSF3R, which signals through JAK-STAT proteins. Chemical interrogation of these primary human specimens revealed a uniform and specific sensitivity to all JAK inhibitors tested irrespective of their CSF3R mutation status, indicating a general sensitization of JAK-STAT signaling in this leukemia subset...
June 16, 2016: Blood
https://www.readbyqxmd.com/read/27030388/two-cases-of-cyclic-neutropenia-with-acquired-csf3r-mutations-with-1-developing-aml
#19
LETTER
Maksim Klimiankou, Sabine Mellor-Heineke, Olga Klimenkova, Elisa Reinel, Murat Uenalan, Siarhei Kandabarau, Julia Skokowa, Karl Welte, Cornelia Zeidler
No abstract text is available yet for this article.
May 26, 2016: Blood
https://www.readbyqxmd.com/read/26994629/hax-1-deficiency-characteristics-of-five-cases-including-an-asymptomatic-patient
#20
Cigdem Aydogmus, Funda Cipe, Melda Tas, Aysenur Akinel, Özlem Öner, Gonca Keskindemirci, Helen Bornaun, Günsel Kutluk, Arzu Babayigit Hocaoglu
BACKGROUND: Mutations in the HAX-1 gene cause an autosomal recessive form of severe congenital neutropenia (SCN), which particularly manifests with recurrent skin, lung and deep tissue infections from the first few months of life. OBJECTIVE: We retrospectively evaluated the clinical and laboratory findings of the patients diagnosed with SCN carrying HAX1 gene mutations. METHODS: A total of five patients with SCN, carrying a HAX1 gene mutation, were evaluated in terms of clinical and laboratory findings...
March 2016: Asian Pacific Journal of Allergy and Immunology
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