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Chromosome translocation

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https://www.readbyqxmd.com/read/29788803/establishment-of-a-spontaneously-transformed-cell-line-ju-pi-from-a-myxoinflammatory-fibroblastic-sarcoma
#1
Klaus W Fagerstedt, Tarja Salonen, Fang Zhao, Soili Kytölä, Tom Böhling, Leif C Andersson
Myxoinflammatory fibroblastic sarcoma is a soft-tissue neoplasm most frequently found in the distal extremities of middle-aged adults. Most myxoinflammatory fibroblastic sarcoma are low-grade tumors with propensity for local recurrence after incomplete removal. We report a myxoinflammatory fibroblastic sarcoma which developed in the foot of a 41-year-old male and showed an exceptionally aggressive course with metastatic spread and fatal outcome within 16 months. We managed to establish a spontaneously transformed continuous cell line, called JU-PI, from a metastatic lesion...
May 2018: Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine
https://www.readbyqxmd.com/read/29787433/investigation-of-spatial-organization-of-chromosome-territories-in-chromosome-exchange-aberrations-after-ionizing-radiation-exposure
#2
Adayabalam S Balajee, Jacob T Sanders, Rosela Golloshi, Igor Shuryak, Rachel Patton McCord, Nicholas Dainiak
Higher-order organization of the human genome is well established with chromosomes occupying distinct domains or territories in the interphase nucleus. Spatial organization of chromosome territories in the interphase nucleus occurs in a cell-type-specific manner. Since both stable and unstable aberrations induced by ionizing radiation involve the exchange of material between two or more chromosomes, this study investigated the role of spatial organization of chromosome domains in ionizing-radiation-induced chromosome translocation events...
July 2018: Health Physics
https://www.readbyqxmd.com/read/29771170/cgh-array-and-karyotype-as-complementary-tools-in-prenatal-diagnosis-prenatal-diagnosis-of-a-4q-derivative-chromosome-from-maternal-4q-11q-translocation
#3
Cristina Gonzalez, Miriam Gutierrez Serrano, Carmen Barbancho Lopez, Taida Garcia-Riaño, Vanesa Barea Calero, Rebeca Moreno Perea, Begoña Rodriguez Mogollón, Amelia Queipo Rojas, Ana Garcia Climent, Fernando Cava Valenciano
BACKGROUND: There is controversy whether chromosomal microarray (CMA) can replace karyotyping in prenatal diagnosis. Chromosomal microarray may detect more clinically significant chromosomal imbalances than karyotyping in a shorter time but does not detect inversions, triploidies or low mosaicisms. CASE REPORT: Amniocentesis was performed in the late second trimester based on ultrasound abnormalities. A CMA, obtained at 10 days, demonstrated a terminal deletion in 4q34...
May 17, 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29770515/structural-variation-and-rates-of-genome-evolution-in-the-grass-family-seen-through-comparison-of-sequences-of-genomes-greatly-differing-in-size
#4
Jan Dvorak, Le Wang, Tingting Zhu, Chad M Jorgensen, Karin R Deal, Xiongtao Dai, Matthew W Dawson, Hans-Georg Müller, Ming-Cheng Luo, Ramesh K Ramasamy, Hamid Dehghani, Yong Q Gu, Bikram S Gill, Assaf Distelfeld, Katrien M Devos, Peng Qi, Frank M You, Patrick J Gulick, Patrick E McGuire
Homology was searched with genes annotated in the Aegilops tauschii pseudomolecules against genes annotated in the pseudomolecules of tetraploid wild emmer wheat, Brachypodium distachyon, sorghum, and rice. Similar searches were initiated with genes annotated in the rice pseudomolecules. Matrices of colinear genes and rearrangements in their order were constructed. Optical Bionano genome maps were constructed and used to validate rearrangements unique to the wild emmer and Ae. tauschii genomes. Most common rearrangements were short paracentric inversions and short intrachromosomal translocations...
May 16, 2018: Plant Journal: for Cell and Molecular Biology
https://www.readbyqxmd.com/read/29768052/options-for-treating-different-soft-tissue-sarcoma-subtypes
#5
Isabelle Ray-Coquard, Delphine Serre, Peter Reichardt, Javier Martín-Broto, Sebastian Bauer
Management of soft tissue sarcoma is increasingly subtype-dependent. Surgery is recommended for uterine leiomyosarcoma, with trabectedin being the preferred option for advanced disease when the treatment goal is long-term tumor stabilization. Liposarcoma subgroups are characterized by distinctive morphologies and genetics, different patterns of disease progression and clinical behavior, and variable responses to treatment. Genetic analysis of sarcomas has provided insights into pathogenesis with potential for developing new molecular targets...
May 2018: Future Oncology
https://www.readbyqxmd.com/read/29767231/bidirectional-modulation-of-insulin-action-by-reactive-oxygen-species-in-3t3%C3%A2-l1-adipocytes
#6
Mingfeng Ma, Yingyao Quan, Yong Li, Xu He, Jing Xiao, Meixiao Zhan, Wei Zhao, Yongjie Xin, Ligong Lu, Liangping Luo
Reactive oxygen species (ROS) serve an important role in glucose‑lipid metabolic regulation. In the present study, the results demonstrated that there was bidirectional regulation of insulin action in 3T3‑L1 adipocytes treated with ROS. Transient and acute ROS exposure improved insulin‑induced metabolic effects in 3T3‑L1 adipocytes. Hydrogen peroxide (H2O2), as a stable and diffusible ROS, diffused into adipocytes and altered intracellular redox homeostasis, resulting in oxidation and inactivation of phosphatase and tensin homologue deleted on chromosome 10 (PTEN)...
May 14, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29765383/fish-based-markers-enable-identification-of-chromosomes-derived-from-tetraploid-thinopyrum-elongatum-in-hybrid-lines
#7
Daiyan Li, Tinghui Li, Yanli Wu, Xiaohui Zhang, Wei Zhu, Yi Wang, Jian Zeng, Lili Xu, Xing Fan, Lina Sha, Haiqin Zhang, Yonghong Zhou, Houyang Kang
Tetraploid Thinopyrum elongatum , which has superior abiotic stress tolerance characteristics, and exhibits resistance to stripe rust, powdery mildew, and Fusarium head blight, is a wild relative of wheat and a promising source of novel genes for wheat improvement. Currently, a high-resolution Fluorescence in situ hybridization (FISH) karyotype of tetraploid Th. elongatum is not available. To develop chromosome-specific FISH-based markers, the hexaploid Trititrigia 8801 and two accessions of tetraploid Th. elongatum were characterized by different repetitive sequences probes...
2018: Frontiers in Plant Science
https://www.readbyqxmd.com/read/29764366/phylogenetic-signal-from-rearrangements-in-18-anopheles-species-by-joint-scaffolding-extant-and-ancestral-genomes
#8
Yoann Anselmetti, Wandrille Duchemin, Eric Tannier, Cedric Chauve, Sèverine Bérard
BACKGROUND: Genomes rearrangements carry valuable information for phylogenetic inference or the elucidation of molecular mechanisms of adaptation. However, the detection of genome rearrangements is often hampered by current deficiencies in data and methods: Genomes obtained from short sequence reads have generally very fragmented assemblies, and comparing multiple gene orders generally leads to computationally intractable algorithmic questions. RESULTS: We present a computational method, ADSEQ, which, by combining ancestral gene order reconstruction, comparative scaffolding and de novo scaffolding methods, overcomes these two caveats...
May 9, 2018: BMC Genomics
https://www.readbyqxmd.com/read/29760927/is-sperm-fish-analysis-still-useful-for-robertsonian-translocations-meiotic-analysis-for-23-patients-and-review-of-the-literature
#9
Anna Lamotte, Guillaume Martinez, Françoise Devillard, Jean-Pascal Hograindleur, Véronique Satre, Charles Coutton, Radu Harbuz, Florence Amblard, James Lespinasse, Mehdi Benchaib, Julien Bessonnat, Sophie Brouillet, Sylviane Hennebicq
Background: Robertsonian translocations (RobT) are common structural chromosome rearrangements where carriers display a majority of chromosomally balanced spermatozoa from alternate segregation mode. According to some monotony observed in the rates of balanced segregation, is sperm FISH analysis obsolete for RobT carriers? Methods: Retrospective cohort research study on 23 patients analyzed in our center from 2003 to 2017 and compared to the data of 187 patients in literature from 1983 to 2017...
2018: Basic and Clinical Andrology
https://www.readbyqxmd.com/read/29760780/derivative-chromosomes-involving-5p-large-rearranged-segments-went-unnoticed-with-the-use-of-conventional-cytogenetics
#10
Emiy Yokoyama, Victoria Del Castillo, Silvia Sánchez, Sandra Ramos, Bertha Molina, Leda Torres, María José Navarro, Silvia Avila, José Luis Castrillo, Benilde García-De Teresa, Bárbara Asch, Sara Frías
Background: In countries where comparative genomic hybridization arrays (aCGH) and next generation sequencing are not widely available due to accessibility and economic constraints, conventional 400-500-band karyotyping is the first-line choice for the etiological diagnosis of patients with congenital malformations and intellectual disability. Conventional karyotype analysis can rule out chromosomal alterations greater than 10 Mb. However, some large structural abnormalities, such as derivative chromosomes, may go undetected when the analysis is performed at less than a 550-band resolution and the size and banding pattern of the interchanged segments are similar...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29759113/distinct-roles-of-atm-and-atr-in-the-regulation-of-arp8-phosphorylation-to-prevent-chromosome-translocations
#11
Jiying Sun, Lin Shi, Aiko Kinomura, Atsuhiko Fukuto, Yasunori Horikoshi, Yukako Oma, Masahiko Harata, Masae Ikura, Tsuyoshi Ikura, Roland Kanaar, Satoshi Tashiro
Chromosomal translocations are hallmarks of various types of cancers and leukemias. However, the molecular mechanisms of chromosome translocations remain largely unknown. The ataxia-telangiectasia mutated (ATM) protein, a DNA damage signaling regulator, facilitates DNA repair to prevent chromosome abnormalities. Previously, we showed that ATM deficiency led to the 11q23 chromosome translocation, the most frequent chromosome abnormalities in secondary leukemia. Here, we show that ARP8, a subunit of the INO80 chromatin remodeling complex, is phosphorylated after etoposide treatment...
May 8, 2018: ELife
https://www.readbyqxmd.com/read/29755264/an-update-on-mesenchymal-tumours-of-the-orbit-with-an-emphasis-on-the-value-of-molecular-cytogenetic-testing
#12
REVIEW
F Roberts, E M MacDuff
Mesenchymal tumours of the orbit are uncommon. Beyond childhood primary sarcomas are extremely rare and the literature is limited to case reports and short case series. However there is a diverse assortment of benign and malignant soft tissue tumours that may involve the orbit. Techniques to identify tumour specific cytogenetic or molecular genetic abnormalities often resulting in over- expressed proteins are becoming an increasingly important ancillary technique for these tumours. This review focuses on 3 specific areas: 1...
January 2018: Saudi Journal of Ophthalmology: Official Journal of the Saudi Ophthalmological Society
https://www.readbyqxmd.com/read/29749794/molecular-cytogenetics-guides-massively-parallel-sequencing-of-a-radiation-induced-chromosome-translocation-in-human-cells
#13
Michael N Cornforth, Pavana Anur, Nicholas Wang, Erin Robinson, F Andrew Ray, Joel S Bedford, Bradford D Loucas, Eli S Williams, Myron Peto, Paul Spellman, Rahul Kollipara, Ralf Kittler, Joe W Gray, Susan M Bailey
Chromosome rearrangements are large-scale structural variants that are recognized drivers of oncogenic events in cancers of all types. Cytogenetics allows for their rapid, genome-wide detection, but does not provide gene-level resolution. Massively parallel sequencing (MPS) promises DNA sequence-level characterization of the specific breakpoints involved, but is strongly influenced by bioinformatics filters that affect detection efficiency. We sought to characterize the breakpoint junctions of chromosomal translocations and inversions in the clonal derivatives of human cells exposed to ionizing radiation...
May 11, 2018: Radiation Research
https://www.readbyqxmd.com/read/29748621/proteomic-profiling-identifies-key-coactivators-utilized-by-mutant-er%C3%AE-proteins-as-potential-new-therapeutic-targets
#14
Leah A Gates, Guowei Gu, Yue Chen, Aarti D Rohira, Jonathan T Lei, Ross A Hamilton, Yang Yu, David M Lonard, Jin Wang, Shu-Ping Wang, David G Edwards, Philip F Lavere, Jiangyong Shao, Ping Yi, Antrix Jain, Sung Yun Jung, Anna Malovannaya, Shunqiang Li, Jieya Shao, Robert G Roeder, Matthew J Ellis, Jun Qin, Suzanne A W Fuqua, Bert W O'Malley, Charles E Foulds
Approximately 75% of breast cancers are estrogen receptor alpha (ERα)-positive and are treatable with endocrine therapies, but often patients develop lethal resistant disease. Frequent mutations (10-40%) in the ligand-binding domain (LBD) codons in the gene encoding ERα (ESR1) have been identified, resulting in ligand-independent, constitutively active receptors. In addition, ESR1 chromosomal translocations can occur, resulting in fusion proteins that lack the LBD and are entirely unresponsive to all endocrine treatments...
May 11, 2018: Oncogene
https://www.readbyqxmd.com/read/29746601/aberrant-activity-of-nkl-homeobox-gene-nkx3-2-in-a-t-all-subset
#15
Stefan Nagel, Corinna Meyer, Maren Kaufmann, Margarete Zaborski, Roderick A F MacLeod, Hans G Drexler
T-cell acute lymphoblastic leukemia (T-ALL) is a hematopoietic malignancy originating from T-cell progenitors in which differentiation is blocked at early stages. Physiological expression of specific NKL homeobox genes obeys a hematopoietic NKL-code implicated in the process of lymphopoiesis while in differentiated T-cells these genes are silenced. We propose that this developmental expression pattern underlies the observation that NKL homeobox genes are the most ubiquitous group of transcription factors deregulated in T-ALL, including TLX1, TLX3, NKX2-5 and NKX3-1...
2018: PloS One
https://www.readbyqxmd.com/read/29744066/characterization-of-two-familial-cases-presenting-with-a-syndromic-specific-learning-disorder-and-carrying-17q-21q-unbalanced-translocations
#16
Julie Coton, Audrey Labalme, Marianne Till, Gerald Bussy, Sonia Krifi Papoz, Gaetan Lesca, Delphine Heron, Damien Sanlaville, Patrick Edery, Vincent des Portes, Massimiliano Rossi
Chromosomal microarray (CMA) can detect pathogenic copy number variations in 15-20% of individuals with intellectual disability and in 10% of patients with autism spectrum disorders. The diagnostic rate in specific learning disorders (SLD) is unknown. Our study emphasizes the usefulness of CMA in the diagnostic workout assessment of familial SLD.
May 2018: Clinical Case Reports
https://www.readbyqxmd.com/read/29742555/primary-subcutaneous-synovial-sarcoma-first-reported-subcutaneous-case-showing-tle1-immunoreactivity
#17
Victoria Alegría-Landa, Laura Nájera, Dolores Suárez Massa, Gastón Roustan, María Del Río, Heinz Kutzner, Luis Requena
Synovial sarcoma (SS) accounts for 5%-10% of all soft tissue sarcomas. It is a well-defined soft tissue neoplasm with biphasic and monophasic histologic subtypes and unknown histogenesis. It usually occurs in the extremities, especially the thigh-knee region of young adults. Recurrences are frequent and distant metastasis developed in approximately half of the patients. SSs are characterized by a recurrent nonrandom chromosomal translocation, t(X; 18) (p11; q11), which is considered the primary genetic event in more than 90% of cases...
May 8, 2018: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/29739404/a-child-with-multiple-congenital-anomalies-due-to-partial-trisomy-7q22-1-%C3%A2-qter-resulting-from-a-maternally-inherited-balanced-translocation-a-case-report-and-review-of-literature
#18
C S Paththinige, N D Sirisena, U G I U Kariyawasam, R C Ediriweera, P Kruszka, M Muenke, V H W Dissanayake
BACKGROUND: Parental balanced reciprocal translocations can result in partial aneuploidies in the offspring due to unbalanced meiotic segregation during gametogenesis. Herein, we report the phenotypic and molecular cytogenetic characterization of a 2 years and 4 months old female child with partial trisomy 7q22 → qter. This is the first such reported case resulting from a parental balanced translocation involving the long arms of chromosomes 7 and 14. The phenotype of the proband was compared with that of previously reported cases of trisomy 7q21 → qter or 7q22 → qter resulting from parental balanced translocations...
May 8, 2018: BMC Medical Genomics
https://www.readbyqxmd.com/read/29735550/microrna-339-promotes-development-of-stem-cell-leukemia-lymphoma-syndrome-via-downregulation-of-the-bcl2l11-and-bax-pro-apoptotic-genes
#19
Tianxiang Hu, Yating Chong, Sumin Lu, Rebecca Wang, Haiyan Qin, Jeane Silva, Eiko Kitamura, Chang-Sheng Chang, LesleyAnn Hawthorn, John K Cowell
Development of myeloid and lymphoid neoplasms related to overexpression of FGFR1 kinases as a result of chromosome translocations depends on promotion of a stem cell phenotype, suppression of terminal differentiation, and resistance to apoptosis. These phenotypes are related to the stem cell leukemia/lymphoma syndrome (SCLL), which arises through the effects of activated FGFR1 kinase on gene transcription, including dysregulation of microRNAs. In a screen for miRNAs that are directly regulated by FGFR1 and that stimulate cell proliferation and survival, we identified miR-339-5p, which is highly upregulated in cells carrying various different chimeric kinases...
May 7, 2018: Cancer Research
https://www.readbyqxmd.com/read/29735542/pml-recruits-tet2-to-regulate-dna-modification-and-cell-proliferation-in-response-to-chemotherapeutic-agent
#20
Chengli Song, Lina Wang, Xiaoyan Wu, Kai Wang, Dan Xie, Qi Xiao, Songyu Li, Kui Jiang, Lujian Liao, John R Yates, Jiing-Dwan Lee, Qingkai Yang
Aberrant DNA methylation plays a critical role in the development and progression of cancer. Failure to demethylate and to consequently reactivate methylation-silenced genes in cancer contributes to chemotherapeutic resistance, yet the regulatory mechanisms of DNA demethylation in response to chemotherapeutic agents remain unclear. Here, we show that promyelocytic leukemia (PML) recruits ten-eleven translocation dioxygenase 2 (TET2) to regulate DNA modification and cell proliferation in response to chemotherapeutic agents...
May 7, 2018: Cancer Research
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