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https://www.readbyqxmd.com/read/29776538/rapid-detection-of-calr-type-1-and-type-2-mutations-using-pna-lna-clamping-loop-mediated-isothermal-amplification-on-a-cd-like-microfluidic-chip
#1
Guojun Cao, Jilie Kong, Zhifang Xing, Yigui Tang, Xinju Zhang, Xiao Xu, Zhihua Kang, Xueen Fang, Ming Guan
Bleeding and thrombosis represent common complications in myeloproliferative neoplasms (MPN) and significantly contribute to morbidity and mortality. Molecular markers, including CALR mutations, were considered not only as diagnostic markers, but also as risk factors for bleeding and thrombosis associated with MPN, especially for patients in remote primary hospitals. We sought to develop an easy-to-use assay for the rapid detection of CALR type 1 (CALR-1) and type 2 (CALR-2) mutations in Philadelphia chromosome-negative MPN patients...
September 18, 2018: Analytica Chimica Acta
https://www.readbyqxmd.com/read/29759084/sex-differences-in-associations-between-maternal-deprivation-and-alterations-in-hippocampal-calcium-binding-proteins-and-cognitive-functions-in-rats
#2
Hongyu Xu, Yuqin Ye, Yelu Hao, Fei Shi, Zhiqiang Yan, Guohao Yuan, Yuefan Yang, Zhou Fei, Xiaosheng He
BACKGROUND AND OBJECTIVE: Adverse early-life experiences have been suggested as one of the key contributors to neurodevelopmental disorders, such that these experiences influence brain development, cognitive ability and mental health. Previous studies indicated that hippocampal levels of the calcium-binding proteins calretinin (CALR) and calbindin-D28k (CALB) changed in response to maternal deprivation (MD), a model for adverse early-life experiences. We investigated the effects of MD on hippocampal CALR and CALB protein levels and cognitive behaviors, and explored whether these effects were sex-related...
May 15, 2018: Behavioral and Brain Functions: BBF
https://www.readbyqxmd.com/read/29752870/morphological-and-cellular-characterization-of-the-fetal-canine-canis-lupus-familiaris-subventricular-zone-rostral-migratory-stream-and-olfactory-bulb
#3
Dailiany Orechio, Bruna Andrade Aguiar, Giovanne Baroni Diniz, Jackson Cioni Bittencourt, Carlos A Haemmerle, Ii-Sei Watanabe, Maria Angelica Miglino, Patricia Castelucci
The existence of neurogenesis in the adult brain is a widely recognized phenomenon, occurring in the subventricular zone (SVZ) of the lateral ventricles and the subgranular zone of the dentate gyrus in several vertebrate species. Neural precursors originated in the SVZ migrate to the main olfactory bulb (MOB), originating the rostral migratory stream (RMS) in the process. To better understand the formation of the adult neurogenic niches in dogs, we investigated the cellular composition and morphological organization of these areas in 57 days-old dog fetuses...
May 12, 2018: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/29741776/skewed-megakaryopoiesis-in-human-induced-pluripotent-stem-cell-derived-haematopoietic-progenitor-cells-harbouring-calreticulin-mutations
#4
Hiraku Takei, Yoko Edahiro, Shuichi Mano, Nami Masubuchi, Yoshihisa Mizukami, Misa Imai, Soji Morishita, Kyohei Misawa, Tomonori Ochiai, Satoshi Tsuneda, Hiroshi Endo, Sou Nakamura, Koji Eto, Akimichi Ohsaka, Marito Araki, Norio Komatsu
Somatic mutations in the calreticulin (CALR) gene have been found in most patients with JAK2- and MPL-unmutated Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs). It has recently been shown that mutant CALR constitutively activates the thrombopoietin receptor MPL and, thus, plays a causal role in the development of MPNs. However, the roles of mutant CALR in human haematopoietic cell differentiation remain predominantly elusive. To examine the impact of the 5-base insertion mutant CALR gene (Ins5) on haematopoietic cell differentiation, we generated induced pluripotent stem cells from an essential thrombocythaemia (ET) patient harbouring a CALR-Ins5 mutation and from a healthy individual (WT)...
May 9, 2018: British Journal of Haematology
https://www.readbyqxmd.com/read/29741513/myelofibrosis-clinicopathologic-features-prognosis-and-management
#5
Jennifer M O'Sullivan, Claire N Harrison
Myelofibrosis is one of the BCR-ABL-negative clonal disorders that collectively are known as myeloproliferative neoplasms (MPNs). It is caused by the proliferation of clonal hematopoietic stem cells, which over time leads to characteristic clinical features. The disease presentation is heterogeneous, however, with 30% of patients initially asymptomatic. This variation in clinical phenotype warrants careful risk stratification to guide appropriate management, and prognostic risk scores are continually being refined...
February 2018: Clinical Advances in Hematology & Oncology: H&O
https://www.readbyqxmd.com/read/29727699/pyrosequencing-based-quantitative-measurement-of-calr-mutation-allele-burdens-and-their-clinical-implications-in-patients-with-myeloproliferative-neoplasms
#6
Yejin Oh, Ik-Chan Song, Jimyung Kim, Gye Cheol Kwon, Sun Hoe Koo, Seon Young Kim
BACKGROUND: We developed a pyrosequencing-based method for the quantification of CALR mutations and compared the results using Sanger sequencing, fragment length analysis (FLA), digital-droplet PCR (ddPCR), and next-generation sequencing (NGS). METHODS: Method validation studies were performed using cloned plasmid controls. Samples from 24 patients with myeloproliferative neoplasms were evaluated. RESULTS: Among the 24 patients, 15 had CALR mutations (7 type 1, 2 type 2, and 6 other mutations)...
May 1, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29725364/asxl1-mutations-in-chinese-patients-with-essential-thrombocythemia
#7
Yan-Bo Nie, Meng Sun, Colin K He, Man-Kai Ju, Fu-Ling Zhou, San-Yun Wu, Yi Zhou, Li Liu, Hui Shen, Ting-Ting Huang, Pan Liu, Ying Xu, Liang Shao, Xue-Lan Zuo
Essential thrombocythemia (ET) is characterized by thrombotic and hemorrhagic events. The association of clinical characteristics of Chinese ET patients and additional sex combs like 1 (ASXL1) mutations in these patients has remained to be elucidated. In the present study, 72 newly diagnosed Chinese ET patients were enrolled to determine ASXL1 mutations. Mutations in ASXL1, Janus kinase (JAK)2, calreticulin (CALR) and myeloproliferative leukemia (MPL) genes were detected using Sanger sequencing, and data were statistically analyzed...
May 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29715157/elevated-neutrophil-to-lymphocyte-ratio-and-platelet-to-lymphocyte-ratio-in-myelofibrosis-inflammatory-biomarkers-or-representatives-of-myeloproliferation-itself
#8
Marko Lucijanic, David Cicic, Tajana Stoos-Veic, Vlatko Pejsa, Jelena Lucijanic, Amina Fazlic Dzankic, Josipa Vlasac Glasnovic, Ena Soric, Marko Skelin, Rajko Kusec
BACKGROUND/AIM: We aimed to investigate clinical associations of inflammatory biomarkers neutrophil-to-lymphocyte-ratio (NLR) and platelet-to-lymphocyte-ratio (PLR) in patients with myelofibrosis, myeloproliferative neoplasm with inflammatory background. PATIENTS AND METHODS: We retrospectively analyzed a cohort of 102 myelofibrosis patients. NLR and PLR were assessed in addition to other disease-specific parameters. RESULTS: NLR and PLR were significantly higher in myelofibrosis than in healthy controls...
May 2018: Anticancer Research
https://www.readbyqxmd.com/read/29682367/myelodysplastic-syndrome-acute-myeloid-leukemia-arising-in-idiopathic-erythrocytosis
#9
Stephen E Langabeer, Eibhlin Conneally, Catherine M Flynn
The term "idiopathic erythrocytosis (IE)" is applied to those cases where a causal clinical or pathological event cannot be elucidated and likely reflects a spectrum of underlying medical and molecular abnormalities. The clinical course of a patient with IE is described manifesting as a persistent erythrocytosis with a low serum erythropoietin level, mild eosinophilia, and with evidence of a thrombotic event. The patient subsequently developed a myelodysplasic syndrome (MDS) and acute myeloid leukemia (AML), an event not observed in erythrocytosis patients other than those with polycythemia vera (PV)...
2018: Case Reports in Hematology
https://www.readbyqxmd.com/read/29677511/an-integrated-genome-wide-crispra-approach-to-functionalize-lncrnas-in-drug-resistance
#10
Assaf C Bester, Jonathan D Lee, Alejandro Chavez, Yu-Ru Lee, Daphna Nachmani, Suhani Vora, Joshua Victor, Martin Sauvageau, Emanuele Monteleone, John L Rinn, Paolo Provero, George M Church, John G Clohessy, Pier Paolo Pandolfi
Resistance to chemotherapy plays a significant role in cancer mortality. To identify genetic units affecting sensitivity to cytarabine, the mainstay of treatment for acute myeloid leukemia (AML), we developed a comprehensive and integrated genome-wide platform based on a dual protein-coding and non-coding integrated CRISPRa screening (DICaS). Putative resistance genes were initially identified using pharmacogenetic data from 760 human pan-cancer cell lines. Subsequently, genome scale functional characterization of both coding and long non-coding RNA (lncRNA) genes by CRISPR activation was performed...
April 19, 2018: Cell
https://www.readbyqxmd.com/read/29676359/molecular-genetics-of-bcr-abl1-negative-myeloproliferative-neoplasms-in-india
#11
Nikhil Rabade, P G Subramanian, Rohan Kodgule, Goutham Raval, Swapnali Joshi, Shruti Chaudhary, Russel Mascarenhas, Prashant Tembhare, Sumeet Gujral, Nikhil Patkar
Introduction: Over the past decade, we have moved on from a predominantly morphological and clinical classification of myeloproliferative neoplasms (MPN) to a more evolved classification that accounts for the molecular heterogeneity that is unique to this subgroup of hematological malignancies. This usually incorporates mutations in Janus kinase 2 (JAK2), MPL, and calreticulin (CALR) genes. In this manuscript, we report the frequency of these mutations in a cohort of Indian patients at a tertiary cancer center...
April 2018: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/29665937/-current-understanding-of-myeloproliferative-neoplasm-related-gene-mutations-and-cytokine-review
#12
Zhi-Peng He, Yong Wu
Myeloproliferative neoplasm(MPN) is clonal hematopoietic stem cell disorder characterized by abnormal proliferation and expansion of one or more myeloid lineages. BCR-ABL-negative MPN includes polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF). The mutations of JAK2, CALR and MPL genes are involved in the pathogenesis of MPN that provided a more complete molecular diagnostic standard for MPN. More and more new mutated genes related to prognosis of MPN were discovered in the past few years, at same time it was found that cytokines were also involved in the genesis and development of MPN...
April 2018: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/29665657/recent-advances-in-the-diagnosis-and-management-of-primary-myelofibrosis
#13
Katsuto Takenaka, Kazuya Shimoda, Koichi Akashi
Primary myelofibrosis (PMF) is a myeloproliferative neoplasm (MPN) in which dysregulation of the Janus kinase/signal transducers and activators of transcription (JAK/STAT) signaling pathways is the major pathogenic mechanism. Most patients with PMF carry a driver mutation in the JAK2, MPL (myeloproliferative leukemia), or CALR (calreticulin) genes. Mutations in epigenetic regulators and RNA splicing genes may also occur, and play critical roles in PMF disease progression. Based on revised World Health Organization diagnostic criteria for MPNs, both screening for driver mutations and bone marrow biopsy are required for a specific diagnosis...
April 20, 2018: Korean Journal of Internal Medicine
https://www.readbyqxmd.com/read/29650801/the-role-of-jak2-inhibitors-in-mpn-seven-years-after-approval
#14
Francesco Passamonti, Margherita Maffioli
Myeloproliferative neoplasms (MPNs) include essential thrombocythemia, polycythemia vera (PV) and primary myelofibrosis (PMF). Phenotype-driver mutations of JAK2, CALR and MPL genes are present in MPNs and can be variably combined with additional mutations. Driver mutations entail a constitutive activation of the JAK2/STAT pathway, the key signaling cascade in MPNs. Among JAK2 inhibitors (JAKis), ruxolitinib (RUX) has been approved for the treatment of intermediate and high risk myelofibrosis (MF) and of PV inadequately controlled by or intolerant of hydroxyurea...
April 12, 2018: Blood
https://www.readbyqxmd.com/read/29644531/splanchnic-vein-thrombosis-in-the-myeloproliferative-neoplasms
#15
REVIEW
Imo J Akpan, Brady Lee Stein
PURPOSE OF REVIEW: To review the epidemiology, diagnostic challenges, pathogenesis, and treatment strategies for patients with myeloproliferative neoplasm-associated splanchnic vein thrombosis. RECENT FINDINGS: The epidemiology of myeloproliferative neoplasm-associated splanchnic vein thrombosis (MPN-SVT) has been well characterized. While typical MPN-associated thrombosis affects older patients and involves the arterial circulation, MPN-SVT mostly impacts younger women...
April 11, 2018: Current Hematologic Malignancy Reports
https://www.readbyqxmd.com/read/29617043/a-novel-type-of-2-base-pair-frameshift-calr-mutation-in-a-patient-with-myeloproliferative-neoplasm
#16
Hyun-Young Kim, Jong-Won Kim, Sun-Hee Kim, Myung Hee Chang, Hee-Jin Kim
Somatic CALR mutations have been identified in the majority of JAK2 mutation-negative essential thrombocythaemia (ET) and primary myelofibrosis. Almost all CALR mutations have been reported to typically generate a +1-base pair (bp) frameshift in the open reading frame. Here, we describe an ET patient with a +2-bp frameshift CALR mutation. A 41-year-old man was admitted because of headache, and diagnosed as JAK2-negative ET. After 4 years, his disease progressed to post-ET myelofibrosis, and CALR mutation analysis demonstrated a +2-bp frameshift CALR mutation caused by two different CALR mutations, c...
April 4, 2018: European Journal of Haematology
https://www.readbyqxmd.com/read/29611379/gata1-expression-in-bcr-abl1-negative-myeloproliferative-neoplasms
#17
Naery Yang, Sholhui Park, Min Sun Cho, Miae Lee, Ki Sook Hong, Yeung Chul Mun, Chu Myong Seong, Hee Jin Huh, Jungwon Huh
BACKGROUND: This study aimed to determine GATA1 expression levels to better characterize subgroups in BCR/ABL1-negative myeloproliferative neoplasms (MPNs). METHODS: This study enrolled 49 patients diagnosed as having BCR/ABL1-negative MPN on the basis of the 2016 World Health Organization classification : nine polycythemia vera (PV), 17 essential thrombocythemia (ET), 12 prefibrotic primary myelofibrosis (prePMF), and 11 overt primary myelofibrosis (PMF). Relevant clinical and laboratory data were retrieved from the medical records...
July 2018: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/29587261/high-frequency-of-copy-neutral-loss-of-heterozygosity-in-patients-with-myelofibrosis
#18
Milton Rego de Paula Junior, Alexandre Nonino, Juliana Minuncio Nascimento, Raphael S Bonadio, Aline Pic-Taylor, Silviene F de Oliveira, Rinaldo Wellerson Pereira, Cintia do Couto Mascarenhas, Juliana Forte Mazzeu
Myelofibrosis is the rarest and most severe type of Philadelphia-negative classical myeloproliferative neoplasms. Although mutually exclusive driver mutations in JAK2, MPL, or CALR that activate JAK-STAT pathway have been related to the pathogenesis of the disease, chromosome abnormalities have also been associated with the phenotype and prognosis of the disease. Here, we report the use of a chromosomal microarray platform consisting of both oligo and SNP probes to improve the detection of chromosome abnormalities in patients with myelofibrosis...
March 22, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29575945/current-approaches-to-challenging-scenarios-in-myeloproliferative-neoplasms
#19
Eran Zimran, Ronald Hoffman, Marina Kremyanskaya
The Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs) including polycythemia vera, essential thrombocythemia and primary myelofibrosis are clonal hematological malignancies that originate at the level of the hematopoietic stem cell, and are characterized by excessive proliferation of cells belonging to one or more of the myeloid lineages. Central to the pathogenesis of the MPNs is constitutive activation of the JAK/STAT signaling pathway due to a family of driver mutations affecting JAK2, CALR or MPL...
June 2018: Expert Review of Anticancer Therapy
https://www.readbyqxmd.com/read/29562644/understanding-splenomegaly-in-myelofibrosis-association-with-molecular-pathogenesis
#20
REVIEW
Moo-Kon Song, Byeong-Bae Park, Ji-Eun Uhm
Myelofibrosis (MF) is a clinical manifestation of chronic BCR-ABL1-negative chronic myeloproliferative neoplasms. Splenomegaly is one of the major clinical manifestations of MF and is directly linked to splenic extramedullary hematopoiesis (EMH). EMH is associated with abnormal trafficking patterns of clonal hematopoietic cells due to the dysregulated bone marrow (BM) microenvironment leading to progressive splenomegaly. Several recent data have emphasized the role of several cytokines for splenic EMH. Alteration of CXCL12/CXCR4 pathway could also lead to splenic EMH by migrated clonal hematopoietic cells from BM to the spleen...
March 18, 2018: International Journal of Molecular Sciences
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