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https://www.readbyqxmd.com/read/28419269/dual-genotype-diffuse-low-grade-glioma-is-it-really-time-to-abandon-oligoastrocytoma-as-a-distinct-entity
#1
Valeria Barresi, Simona Lionti, Laura Valori, Giovanna Gallina, Maria Caffo, Sabrina Rossi
We report a unique case of dual-genotype oligoastrocytoma characterized by IDH2 gene mutation. The tumor was resected from the temporal lobe of a 25-year-old man. At histological examination with hematoxylin and eosin stain, it showed distinct oligodendroglial and astrocytic areas. The former retained alpha-thalassaemia/mental retardation X-linked (ATRX) immuno-expression and had absent staining for p53, while the latter had ATRX loss and p53 over-expression. Molecular analyses were separately assessed in the 2 tumor components...
April 17, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28405520/the-immune-molecular-landscape-of-the-b7-and-tnfr-immunoregulatory-ligand-receptor-families-in-head-and-neck-cancer-a-comprehensive-overview-and-the-immunotherapeutic-implications
#2
Yu-Pei Chen, Jian Zhang, Ya-Qin Wang, Na Liu, Qing-Mei He, Xiao-Jing Yang, Ying Sun, Jun Ma
The B7 family and tumor necrosis factor receptor (TNFR) superfamily play a vital role in the T-cell co-stimulatory and co-inhibitory pathways, regulating T-cell activation, tolerance, and exhaustion; therapeutic modulation of these pathways is translated into effective new cancer treatments. Better understanding of the immune molecular landscapes of the B7 and TNFR families would guide head and neck immuno-oncology clinical research. We performed comprehensive molecular profiling of 10 B7 and 6 TNFR family members in head and neck cancer...
2017: Oncoimmunology
https://www.readbyqxmd.com/read/28370826/microtubule-associated-defects-caused-by-efhc1-mutations-in-juvenile-myoclonic-epilepsy
#3
Praveen K Raju, Parthasarthy Satishchandra, Sourav Nayak, Vishwanathan Iyer, Sanjib Sinha, Anuranjan Anand
Juvenile myoclonic epilepsy (JME) is a common form of epilepsy with a substantial genetic basis to its etiology. While earlier studies have identified EFHC1 as a causative gene for JME, subsequent studies have suggested that ethnicity may play a role in determining expression of the JME phenotype among individuals carrying EFHC1 mutations. Here, we report on our studies on EFHC1 in JME patients from India. We examined the complete structure of the EFHC1 transcript from 480 JME patients and 700 control chromosomes by direct sequencing...
March 31, 2017: Human Mutation
https://www.readbyqxmd.com/read/28360911/swine-leukocyte-antigen-diversity-in-canadian-specific-pathogen-free-yorkshire-and-landrace-pigs
#4
Caixia Gao, Jinqiang Quan, Xinjie Jiang, Changwen Li, Xiaoye Lu, Hongyan Chen
The highly polymorphic swine major histocompatibility complex (MHC), termed swine leukocyte antigen (SLA), is associated with different levels of immunologic responses to infectious diseases, vaccines, and transplantation. Pig breeds with known SLA haplotypes are important genetic resources for biomedical research. Canadian Yorkshire and Landrace pigs represent the current specific pathogen-free (SPF) breeding stock maintained in the isolation environment at the Harbin Veterinary Research Institute, Chinese Academy of Agricultural Sciences...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28346477/disruption-of-sorcs2-reveals-differences-in-the-regulation-of-stereociliary-bundle-formation-between-hair-cell-types-in-the-inner-ear
#5
Andrew Forge, Ruth R Taylor, Sally J Dawson, Michael Lovett, Daniel J Jagger
Behavioural anomalies suggesting an inner ear disorder were observed in a colony of transgenic mice. Affected animals were profoundly deaf. Severe hair bundle defects were identified in all outer and inner hair cells (OHC, IHC) in the cochlea and in hair cells of vestibular macular organs, but hair cells in cristae were essentially unaffected. Evidence suggested the disorder was likely due to gene disruption by a randomly inserted transgene construct. Whole-genome sequencing identified interruption of the SorCS2 (Sortilin-related VPS-10 domain containing protein) locus...
March 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28287596/generation-of-fluorescent-protein-fusions-in-candida-species
#6
Sara Gonia, Judith Berman, Cheryl A Gale
Candida species, prevalent colonizers of the intestinal and genitourinary tracts, are the cause of the majority of invasive fungal infections in humans. Thus, molecular and genetic tools are needed to facilitate the study of their pathogenesis mechanisms. PCR-mediated gene modification is a straightforward and quick approach to generate epitope-tagged proteins to facilitate their detection. In particular, fluorescent protein (FP) fusions are powerful tools that allow visualization and quantitation of both yeast cells and proteins by fluorescence microscopy and immunoblotting, respectively...
March 4, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28245399/-single-nucleotide-polymorphism-of-mitochondrial-dna-d-loop-region-in-peripheral-blood-lymphocytes-of-immuno-related-pancytopenia-patients
#7
Qiu-Fan Zhou, Shu-Mei Xu, Hua-Quan Wang, Li-Min Xing, Rong Fu, Zong-Hong Shao
OBJECTIVE: To explore the single nucleotide polymorphism(SNP) of mitochondrial DNA (mtDNA) D-LOOP region in peripheral blood lymphocytes of immuno-related pancytopenia (IRP) patients and its correlation with immune parameters. METHODS: The D-LOOP region in mitochondrial DNA of lymphocytes in peripheral blood mononuclear cells from 43 patients with untreated IRP was detected by polymerase chain reaction(PCR). The PCR products were sequenced by the pros and cons direct sequencing methods...
February 2017: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/28216140/expression-profiles-of-cancer-stem-cell-markers-cd133-cd44-musashi-1-and-epcam-in-the-cardiac-mucosa-barrett-s-esophagus-early-esophageal-adenocarcinoma-advanced-esophageal-adenocarcinoma-sequence
#8
Anna Mokrowiecka, Lothar Veits, Christina Falkeis, Jacek Musial, Radzislaw Kordek, Mariusz Lochowski, Jozef Kozak, Agnieszka Wierzchniewska-Lawska, Michael Vieth, Ewa Malecka-Panas
INTRODUCTION: Barrett's esophagus (BE), which develops as a result of gastroesophageal reflux disease, is a preneoplastic condition for esophageal adenocarcinoma (EAC). A new hypothesis suggests that cancer is a disease of stem cells, however, their expression and pathways in BE - EAC sequence are not fully elucidated yet. AIMS: We used a panel of putative cancer stem cells markers to identify stem cells in consecutive steps of BE-related cancer progression. METHODS: Immunohistochemistry was performed on formalin-fixed, paraffin-embedded blocks from 58 patients with normal cardiac mucosa (n=5), BE (n=14), early EAC (pT1) from mucosal resection (n=17) and advanced EAC (pT1-T4) from postoperative specimens (n=22)...
March 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28213174/evidence-of-the-presence-of-a-calmodulin-sensitive-plasma-membrane-ca-2-atpase-in-trypanosoma-equiperdum
#9
María Carolina Pérez-Gordones, José Rubén Ramírez-Iglesias, Vincenza Cervino, Graciela L Uzcanga, Gustavo Benaim, Marta Mendoza
Trypanosoma equiperdum belongs to the subgenus Trypanozoon, which has a significant socio-economic impact by limiting animal protein productivity worldwide. Proteins involved in the intracellular Ca(2+) regulation are prospective chemotherapeutic targets since several drugs used in experimental treatment against trypanosomatids exert their action through the disruption of the parasite intracellular Ca(2+) homeostasis. Therefore, the plasma membrane Ca(2+)-ATPase (PMCA) is considered as a potential drug target...
April 2017: Molecular and Biochemical Parasitology
https://www.readbyqxmd.com/read/28174236/merkel-cell-carcinomas-arising-in-autoimmune-disease-affected-patients-treated-with-biological-drugs-including-tnf
#10
John C Rotondo, Ilaria Bononi, Andrea Puozzo, Marcello Govoni, Valentina Foschi, Giovanni Lanza, Roberta Gafà, Antoine Touzè, Pauline Gaboriaud, Rita Selvatici, Fernanda Martini, Mauro Tognon
PURPOSE: The purpose of this investigation was to characterize Merkel cell carcinomas (MCC) arising in patients affected by auto-immune diseases, treated with biologic drugs. EXPERIMENTAL DESIGN: Serum samples from MCC patients were analyzed for the presence and titer of antibodies against antigens of the oncogenic Merkel cell polyomavirus (MCPyV). IgG antibodies against the viral oncoproteins Large T (LT) and small t (ST) antigens and the viral capsid protein 1 were analyzed by indirect E...
February 7, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28152598/immuno-affinity-capture-followed-by-tmpp-n-terminus-tagging-to-study-catabolism-of-therapeutic-proteins
#11
Majlinda Kullolli, Dan A Rock, Ji Ma
Characterization of in vitro and in vivo catabolism of therapeutic proteins has increasingly become an integral part of discovery and development process for novel proteins. Unambiguous and efficient identification of catabolites can not only facilitate accurate understanding of pharmacokinetic profiles of drug candidates, but also enables follow up protein engineering to generate more catabolically stable molecules with improved properties (pharmacokinetics and pharmacodynamics). Immunoaffinity capture (IC) followed by top-down intact protein analysis using either matrix-assisted laser desorption/ionization or electrospray ionization mass spectrometry analysis have been the primary methods of choice for catabolite identification...
February 3, 2017: Journal of Proteome Research
https://www.readbyqxmd.com/read/28132690/mutations-in-extl3-cause-neuro-immuno-skeletal-dysplasia-syndrome
#12
Machteld M Oud, Paul Tuijnenburg, Maja Hempel, Naomi van Vlies, Zemin Ren, Sacha Ferdinandusse, Machiel H Jansen, René Santer, Jessika Johannsen, Chiara Bacchelli, Marielle Alders, Rui Li, Rosalind Davies, Lucie Dupuis, Catherine M Cale, Ronald J A Wanders, Steven T Pals, Louise Ocaka, Chela James, Ingo Müller, Kai Lehmberg, Tim Strom, Hartmut Engels, Hywel J Williams, Phil Beales, Ronald Roepman, Patricia Dias, Han G Brunner, Jan-Maarten Cobben, Christine Hall, Taila Hartley, Polona Le Quesne Stabej, Roberto Mendoza-Londono, E Graham Davies, Sérgio B de Sousa, Davor Lessel, Heleen H Arts, Taco W Kuijpers
EXTL3 regulates the biosynthesis of heparan sulfate (HS), important for both skeletal development and hematopoiesis, through the formation of HS proteoglycans (HSPGs). By whole-exome sequencing, we identified homozygous missense mutations c.1382C>T, c.1537C>T, c.1970A>G, and c.2008T>G in EXTL3 in nine affected individuals from five unrelated families. Notably, we found the identical homozygous missense mutation c.1382C>T (p.Pro461Leu) in four affected individuals from two unrelated families. Affected individuals presented with variable skeletal abnormalities and neurodevelopmental defects...
February 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28130119/a-new-microneme-protein-of-neospora-caninum-ncmic8-is-involved-in-host-cell-invasion
#13
Jing Wang, Di Tang, Wensheng Li, Jianhai Xu, Qun Liu, Jing Liu
Microneme proteins play an important role in the invasion process of Apicomplexan parasites through adhesion to host cells. We discovered a new N. caninum protein, NcMIC8, which is highly identical to TgMIC8. The NcMIC8 sequence has 2049 bp and no intron in the open reading fragment. It has a molecular weight of 73.8 kDa and contains a signal peptide, a transmembrane region, a low complexity region and 10 epidermal growth factor (EGF) domains. Immuno-fluorescence assay showed that NcMIC8 is located in the microneme...
April 2017: Experimental Parasitology
https://www.readbyqxmd.com/read/28107671/recent-sequence-variation-in-probe-binding-site-affected-detection-of-respiratory-syncytial-virus-group-b-by-real-time-rt-pcr
#14
Everlyn Kamau, Charles N Agoti, Clement S Lewa, John Oketch, Betty E Owor, Grieven P Otieno, Anne Bett, Patricia A Cane, D James Nokes
BACKGROUND: Direct immuno-fluorescence test (IFAT) and multiplex real-time RT-PCR have been central to RSV diagnosis in Kilifi, Kenya. Recently, these two methods showed discrepancies with an increasing number of PCR undetectable RSV-B viruses. OBJECTIVES: Establish if mismatches in the primer and probe binding sites could have reduced real-time RT-PCR sensitivity. STUDY DESIGN: Nucleoprotein (N) and glycoprotein (G) genes were sequenced for real-time RT-PCR positive and negative samples...
March 2017: Journal of Clinical Virology: the Official Publication of the Pan American Society for Clinical Virology
https://www.readbyqxmd.com/read/28106467/follicular-lymphoma-a-b-cell-malignancy-addicted-to-epigenetic-mutations
#15
Koorosh Korfi, Sara Ali, James A Heward, Jude Fitzgibbon
While follicular lymphoma (FL) is exquisitely responsive to immuno-chemotherapy, many patients follow a relapsing remitting clinical course driven in part by a common precursor cell (CPC) population. Advances in next generation sequencing have provided valuable insights into the genetic landscape of FL and its clonal evolution in response to therapy, implicating perturbations of epigenetic regulators as a hallmark of the disease. Recurrent mutations of histone modifiers KMT2D, CREBBP, EP300, EZH2, ARIDIA, and linker histones are likely early events arising in the CPC pool, rendering epigenetic based therapies conceptually attractive for treatment of indolent and transformed FL...
January 20, 2017: Epigenetics: Official Journal of the DNA Methylation Society
https://www.readbyqxmd.com/read/28063307/sharpin-facilitates-p53-degradation-in-breast-cancer-cells
#16
Huijie Yang, Sifan Yu, Weilong Wang, Xin Li, Yingxiang Hou, Zhenhua Liu, Yuanyuan Shi, Kun Mu, Gang Niu, Juntao Xu, Hui Wang, Jian Zhu, Ting Zhuang
The ubiquitin binding protein SHAPRIN is highly expressed in human breast cancer, one of the most frequent female malignancies worldwide. Here, we perform SHARPIN depletion in breast cancer cells together with RNA sequencing. The global expression profiling showed p53 signaling as a potential SHARPIN target. SHARPIN depletion decreased cell proliferation, which effect could be rescue by p53 knocking down. Depletion SHARPIN significantly increases p53 protein level and its target genes in multiple breast cancer cell lines...
February 2017: Neoplasia: An International Journal for Oncology Research
https://www.readbyqxmd.com/read/28059484/assessment-of-il-18-serum-level-and-its-promoter-polymorphisms-in-the-saudi-coronary-artery-disease-cad-patients
#17
Nasimudeen R Jabir, Chelapram K Firoz, Mohammad A Kamal, Ghazi A Damanhouri, Mohammed Nabil Alama, Qamre Alam, Absarul Haque, Hussein A Almehdar, Shams Tabrez
The purpose of the current study was to find out the possible polymorphic site at the promoter region of IL-18 gene in Saudi CAD patients. We have also measured serum IL-18 level to find out, the likely association between its level and polymorphic site. The present study included total 200 subjects (100 confirmed CAD patients both men and women and 100 healthy control individuals). Serum concentration of IL-18 was measured by enzyme linked immuno-sorbent assay. For SNPs analysis, sanger method of DNA sequencing was followed...
January 6, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28043417/in-silico-structure-analysis-and-epitope-prediction-of%C3%A2-e3-cr1-beta-protein-of-human-adenovirus-e%C3%A2-for%C3%A2-vaccine-design
#18
Noman Ibna Amin Patwary, Md Saiful Islam, Md Sohel, Ismot Ara, Mohd Omar Faruk Sikder, Shah Md Shahik
BACKGROUND: Human Adenoviruses are divided into 7 species of Human Adenovirus A to G based on DNA genome homology. The Human Adenovirus E (HAdVs-E) genome is a linear, double-stranded DNA containing 38 protein-coding genes. Wild-type adenoviruses type E, are linked to a number of slight illnesses. The most important part of HAdVs-E is E3 CR1-beta protein which controls the host immune response and viral attachment. METHOD: We use numerous bio-informatics and immuno-informatics implements comprising sequence and construction tools for construction of 3D model and epitope prediction for HAdVs-E...
December 2016: Biomedical Journal
https://www.readbyqxmd.com/read/28038990/putative-dna-modification-methylase-dr_c0020-of-deinococcus-radiodurans-is-an-atypical-sam-dependent-c-5-cytosine-dna-methylase
#19
Nayana A Patil, Bhakti Basu, Deepti D Deobagkar, Shree K Apte, Dileep N Deobagkar
BACKGROUND: Control of cellular processes by epigenetic modification of cytosine in DNA is widespread among living organisms, but, is hitherto unknown in the extremely radioresistant microbe D. radiodurans. METHODS: C-5 methyl cytosines (m(5)C) were detected by immuno-blotting with m(5)C-specific antibody. Site of cytosine methylation by DR_C0020 encoded protein was investigated by bisulfite sequencing. The DR_C0020 knockout mutant (Δdcm), constructed by site directed mutagenesis, was assessed for effect on growth, radiation resistance and proteome...
March 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28005999/characterization-of-chinese-haemophilus-parasuis-isolates-by-traditional-serotyping-and-molecular-serotyping-methods
#20
Lina Ma, Liyan Wang, Yuefeng Chu, Xuerui Li, Yujun Cui, Shengli Chen, Jianhua Zhou, Chunling Li, Zhongxin Lu, Jixing Liu, Yongsheng Liu
Haemophilus parasuis is classified mainly through serotyping, but traditional serotyping always yields non-typable (NT) strains and unreliable results via cross-reactions. Here, we surveyed the serotype prevalence of Chinese H. parasuis isolates using traditional serotyping (gel immuno-diffusion test, GID) and molecular serotyping (multiplex PCR, mPCR). We also investigated why discrepant results between these methods were obtained, and investigated mPCR failure through whole-genome sequencing. Of the 100 isolate tested, 73 (73%) and 93 (93%) were serotyped by the GID test and mPCR, respectively, with a concordance rate of 66% (66/100)...
2016: PloS One
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