keyword
MENU ▼
Read by QxMD icon Read
search

Chromosome translocation

keyword
https://www.readbyqxmd.com/read/28431398/decreased-calpain-activity-in-chronic-myeloid-leukemia-impairs-apoptosis-by-increasing-survivin-in-myeloid-progenitors-and-xiap1-in-differentiating-granulocytes
#1
Weiqi Huang, Ling Bei, Elizabeth E Hjort, Elizabeth A Eklund
Chronic Myeloid Leukemia (CML) is characterized by translocations between chromosomes 9 and 22, resulting in expression of Bcr-abl oncogenes. Although the clinical course of CML was revolutionized by development of Bcr-abl-directed tyrosine kinase inhibitors (TKIs), CML is not cured by these agents. Specifically, the majority of subjects relapsed in clinical trials attempting TKI discontinuation, suggesting persistence of leukemia stem cells (LSCs) even in molecular remission. Identifying mechanisms of CML-LSC persistence may suggest rationale therapeutic targets to augment TKI efficacy and lead to cure...
April 6, 2017: Oncotarget
https://www.readbyqxmd.com/read/28430957/cd25-expression-in-b-lymphoblastic-leukemia-lymphoma-predicts-t-9-22-q34-q11-philadelphia-chromosome-translocation-ph-and-is-associated-with-residual-disease-in-ph-negative-patients
#2
Pu Chen, Andrew Chu, Hamid Zia, Prasad Koduru, Robert Collins, Naomi Winick, Franklin Fuda, Weina Chen
Objectives: CD25 expression is associated with t(9;22)(q34;q11)/Philadelphia chromosome translocation (Ph); BCR-ABL1 rearrangement in B lymphoblastic leukemia/lymphoma (B-LL). However, the significance of CD25 expression in Ph negative (Ph-) B-LL regarding residual disease (RD) and genetic abnormalities is largely unknown. Methods: CD25 expression by flow cytometry (FC) was correlated with Ph status in 95 newly diagnosed B-LL patients and with RD status in day 29 marrow measured by FC in the context of cytogenetic risk stratification in Ph- patients...
November 1, 2016: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28429851/impacts-of-taxonomic-inertia-for-the-conservation-of-african-ungulate-diversity-an-overview
#3
Spartaco Gippoliti, Fenton P D Cotterill, Dietmar Zinner, Colin P Groves
We review the state of African ungulate taxonomy over the last 120 years, with an emphasis on the introduction of the polytypic species concept and the discipline's general neglect since the middle of the 20th century. We single out negative consequences of 'orthodox' taxonomy, highlighting numerous cases of neglect of threatened lineages, unsound translocations that led to lineage introgression, and cases of maladaptation to local conditions including parasitic infections. Additionally, several captive breeding programmes have been hampered by chromosome rearrangements caused by involuntary lineage mixing...
April 21, 2017: Biological Reviews of the Cambridge Philosophical Society
https://www.readbyqxmd.com/read/28427283/break-induced-replication-in-eukaryotes-mechanisms-functions-and-consequences
#4
Cynthia J Sakofsky, Anna Malkova
Break-induced replication (BIR) is an important pathway specializing in repair of one-ended double-strand DNA breaks (DSBs). This type of DSB break typically arises at collapsed replication forks or at eroded telomeres. BIR initiates by invasion of a broken DNA end into a homologous template followed by initiation of DNA synthesis that can proceed for hundreds of kilobases. This synthesis is drastically different from S-phase replication in that instead of a replication fork, BIR proceeds via a migrating bubble and is associated with conservative inheritance of newly synthesized DNA...
April 21, 2017: Critical Reviews in Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28424713/comprehensive-genomic-identification-and-expression-analysis-of-the-phosphate-transporter-pht-gene-family-in-apple
#5
Tingting Sun, Mingjun Li, Yun Shao, Lingyan Yu, Fengwang Ma
Elemental phosphorus (Pi) is essential to plant growth and development. The family of phosphate transporters (PHTs) mediates the uptake and translocation of Pi inside the plants. Members include five sub-cellular phosphate transporters that play different roles in Pi uptake and transport. We searched the Genome Database for Rosaceae and identified five clusters of phosphate transporters in apple (Malus domestica), including 37 putative genes. The MdPHT1 family contains 14 genes while MdPHT2 has two, MdPHT3 has seven, MdPHT4 has 11, and MdPHT5 has three...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28424523/cohesin-is-positioned-in-mammalian-genomes-by-transcription-ctcf-and-wapl
#6
Georg A Busslinger, Roman R Stocsits, Petra van der Lelij, Elin Axelsson, Antonio Tedeschi, Niels Galjart, Jan-Michael Peters
Mammalian genomes are spatially organized by CCCTC-binding factor (CTCF) and cohesin into chromatin loops and topologically associated domains, which have important roles in gene regulation and recombination. By binding to specific sequences, CTCF defines contact points for cohesin-mediated long-range chromosomal cis-interactions. Cohesin is also present at these sites, but has been proposed to be loaded onto DNA elsewhere and to extrude chromatin loops until it encounters CTCF bound to DNA. How cohesin is recruited to CTCF sites, according to this or other models, is unknown...
April 19, 2017: Nature
https://www.readbyqxmd.com/read/28422838/opposite-chromosome-constitutions-due-to-a-familial-translocation-t-1-21-q43-q22-in-2-cousins-with-development-delay-and-congenital-anomalies-a-case-report
#7
Beata Aleksiūnienė, Rugilė Matulevičiūtė, Aušra Matulevičienė, Birutė Burnytė, Natalija Krasovskaja, Laima Ambrozaitytė, Violeta Mikštienė, Vaidas Dirsė, Algirdas Utkus, Vaidutis Kučinskas
RATIONALE: Chromosomal rearrangements are the major cause of multiple congenital abnormalities and intellectual disability. PATIENT CONCERNS AND DIAGNOSIS: We report 2 first cousins with unbalanced chromosomal aberrations of chromosomes 1 and 21, resulting from balanced familial translocation. Chromosome microarray analysis revealed 8.5 Mb1q43q44 duplication/21q22.2q22.3 deletion and 6.8 Mb 1q43q44 deletion/21q22.2q22.3 duplication. Among other features, cognitive and motor development delay and craniofacial anomalies are present in both patients, whereas congenital heart defect and hearing impairment is only present in patient carrying 1q43q44 duplication/21q22...
April 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28420865/a-novel-variant-t-1-22-translocation-ins-22-1-q13-p13p31-in-a-child-with-acute-megakaryoblastic-leukemia
#8
Elizabeth Margolskee, Jad Saab, Julia T Geyer, Alexander Aledo, Susan Mathew
BACKGROUND The reciprocal translocation t(1;22)(p13;q13) involving the RBM15 and MKL1 genes is an uncommon abnormality that occurs in a subset of acute myeloid leukemia with megakaryocytic differentiation (AMKL). Variant translocations have been infrequently described in this subtype of leukemia. CASE REPORT We describe the case of a 3-month-old girl who presented with progressive abdominal distension, vomiting, and fever. Although there was no morphologic evidence of leukemia in the bone marrow, cytogenetic and metaphase fluorescence in situ hybridization analysis identified an insertion of p13p31 bands of chromosome 1 onto the long arm of chromosome 22, resulting in the karyotype: 46,XX,ins(22;1)(q13;p13p31)...
April 19, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28420692/an-improved-assembly-and-annotation-of-the-allohexaploid-wheat-genome-identifies-complete-families-of-agronomic-genes-and-provides-genomic-evidence-for-chromosomal-translocations
#9
Bernardo J Clavijo, Luca Venturini, Christian Schudoma, Gonzalo Garcia Accinelli, Gemy Kaithakottil, Jonathan Wright, Philippa Borrill, George Kettleborough, Darren Heavens, Helen Chapman, James Lipscombe, Tom Barker, Fu-Hao Lu, Neil McKenzie, Dina Raats, Ricardo H Ramirez-Gonzalez, Aurore Coince, Ned Peel, Lawrence Percival-Alwyn, Owen Duncan, Josua Trösch, Guotai Yu, Dan M Bolser, Guy Namaati, Arnaud Kerhornou, Manuel Spannagl, Heidrun Gundlach, Georg Haberer, Robert P Davey, Christine Fosker, Federica Di Palma, Andrew Phillips, A Harvey Millar, Paul J Kersey, Cristobal Uauy, Ksenia V Krasileva, David Swarbreck, Michael W Bevan, Matthew D Clark
Advances in genome sequencing and assembly technologies are generating many high-quality genome sequences, but assemblies of large, repeat-rich polyploid genomes, such as that of bread wheat, remain fragmented and incomplete. We have generated a new wheat whole-genome shotgun sequence assembly using a combination of optimized data types and an assembly algorithm designed to deal with large and complex genomes. The new assembly represents >78% of the genome with a scaffold N50 of 88.8 kb that has a high fidelity to the input data...
April 18, 2017: Genome Research
https://www.readbyqxmd.com/read/28419948/genetic-generalized-epilepsy-in-three-siblings-with-8q21-13-q22-2-duplication
#10
Arezoo Rezazadeh, Felippe Borlot, Hanna Faghfoury, Danielle M Andrade
PURPOSE: Duplication of chromosome region 8q21-q22 is a rare copy number variant that has been previously reported in a limited number of patients. Although some of these patients had seizures, their electroclinical syndrome has not been described in detail. The aim of this study was to provide further insight into the specific epilepsy syndrome associated with 8q21.13-q22.2 duplication. METHOD: We describe 3 siblings with trisomy of 8q21.13-q22.2 who exhibited intellectual disability, facial dysmorphism and seizures...
April 11, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28419093/microhomology-mediated-end-joining-induces-hypermutagenesis-at-breakpoint-junctions
#11
Supriya Sinha, Fuyang Li, Diana Villarreal, Jae Hoon Shim, Suhyeon Yoon, Kyungjae Myung, Eun Yong Shim, Sang Eun Lee
Microhomology (MH) flanking a DNA double-strand break (DSB) drives chromosomal rearrangements but its role in mutagenesis has not yet been analyzed. Here we determined the mutation frequency of a URA3 reporter gene placed at multiple locations distal to a DSB, which is flanked by different sizes (15-, 18-, or 203-bp) of direct repeat sequences for efficient repair in budding yeast. Induction of a DSB accumulates mutations in the reporter gene situated up to 14-kb distal to the 15-bp MH, but more modestly to those carrying 18- and 203-bp or no homology...
April 18, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28416820/contrasting-evolutionary-genome-dynamics-between-domesticated-and-wild-yeasts
#12
Jia-Xing Yue, Jing Li, Louise Aigrain, Johan Hallin, Karl Persson, Karen Oliver, Anders Bergström, Paul Coupland, Jonas Warringer, Marco Cosentino Lagomarsino, Gilles Fischer, Richard Durbin, Gianni Liti
Structural rearrangements have long been recognized as an important source of genetic variation, with implications in phenotypic diversity and disease, yet their detailed evolutionary dynamics remain elusive. Here we use long-read sequencing to generate end-to-end genome assemblies for 12 strains representing major subpopulations of the partially domesticated yeast Saccharomyces cerevisiae and its wild relative Saccharomyces paradoxus. These population-level high-quality genomes with comprehensive annotation enable precise definition of chromosomal boundaries between cores and subtelomeres and a high-resolution view of evolutionary genome dynamics...
April 17, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28413933/primer-in-genetics-and-genomics-article-3-explaining-human-diversity-the-role-of-dna
#13
Catherine Y Read
Genetic variation lays the foundation for diversity and enables humans to adapt to changing environments. The order of the nucleotides adenine, guanine, cytosine, and thymine on the deoxyribonucleic acid (DNA) molecules of the nuclear chromosomes and mitochondrial DNA (mtDNA) plays an important role in normal cell division, tissue development, and reproduction but is susceptible to alteration from a large number of random, inherited, or environmental events. Variations can range from a change in a single nucleotide to duplication of entire chromosomes...
May 2017: Biological Research for Nursing
https://www.readbyqxmd.com/read/28413634/involvement-of-regucalcin-gene-promoter-region-related-protein-p117-a-transcription-factor-in-human-obesity
#14
Masayoshi Yamaguchi, Tomiyasu Murata
Regucalcin gene promoter region-related protein-p117 (RGPR-p117; gene symbol, rgpr-117) was identified in 2001 as a novel transcription factor that specifically binds to a nuclear factor I consensus motif, TTGGC(N)6CC in the promoter region of the regucalcin (rgn) gene. The human RGPR-p117 gene consists of 26 exons spanning ~4.1 kbp and is localized on chromosome 1q25.2. The nuclear translocation of cytoplasm RGPR-p117 is mediated via the protein kinase C-dependent signaling pathway. Overexpression of RGPR-p117 enhances the transcription activity of rgn, and a protective effect on cell death by inhibition of gene expression levels of caspase-3, caspase-8 and FADD proteins that possess the TTGGC motif in the promoter region of those genes was revealed...
April 2017: Biomedical Reports
https://www.readbyqxmd.com/read/28413047/a-homolog-of-teleostean-signal-transducer-and-activator-of-transcription-3-stat3-from-rock-bream-oplegnathus-fasciatus-structural-insights-transcriptional-modulation-and-subcellular-localization
#15
S D N K Bathige, William Shanthakumar Thulasitha, Navaneethaiyer Umasuthan, J D H E Jayasinghe, Qiang Wan, Bo-Hye Nam, Jehee Lee
Signal transducer and activator of transcription 3 (STAT3) is one of the crucial transcription factors in the Janus kinase (JAK)/STAT signaling pathway, and it was previously considered as acute phase response factor. A number of interleukins (ILs) such as IL-5, IL-6, IL-9, IL-10, IL-12, and IL-22 are known to be involved in activation of STAT3. In addition, various growth factors and pathogenic or oxidative stresses mediate the activation of a wide range of functions via STAT3. In this study, a STAT3 homolog was identified and functionally characterized from rock bream (RbSTAT3), Oplegnathus fasciatus...
April 2017: Veterinary Immunology and Immunopathology
https://www.readbyqxmd.com/read/28412998/new-hpsc-based-human-models-to-study-pediatric-acute-megakaryoblastic-leukemia-harboring-the-fusion-oncogene-rbm15-mkl1
#16
Verónica Ayllón, Marina Vogel-González, Federico González-Pozas, Joan Domingo-Reinés, Rosa Montes, Lucía Morales-Cacho, Verónica Ramos-Mejía
Pediatric Acute Megakaryoblastic Leukemia not associated to Down Syndrome (non-DS AMKL) is a rare disease with a dismal prognosis. Around 15% of patients carry the chromosomal translocation t(1;22) that originates the fusion oncogene RBM15-MKL1, which is linked to an earlier disease onset (median of 6months of age) and arises in utero. Here we report the generation of two hPSC cell lines constitutively expressing the oncogene RBM15-MKL1, resulting in an increased expression of known RBM15-MKL1 gene targets...
March 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28412934/karyotype-diversity-and-chromosomal-organization-of-repetitive-dna-in-tityus-obscurus-scorpiones-buthidae
#17
Bruno Rafael Ribeiro de Almeida, Susana Suely Rodrigues Milhomem-Paixão, Renata Coelho Rodrigues Noronha, Cleusa Yoshiko Nagamachi, Marlyson Jeremias Rodrigues da Costa, Pedro Pereira de Oliveira Pardal, Johne Souza Coelho, Julio Cesar Pieczarka
BACKGROUND: Holocentric chromosomes occur in approximately 750 species of eukaryotes. Among them, the genus Tityus (Scorpiones, Buthidae) has a labile karyotype that shows complex multivalent associations during male meiosis. Thus, taking advantage of the excellent model provided by the Buthidae scorpions, here we analyzed the chromosomal distribution of several repetitive DNA classes on the holocentric chromosomes of different populations of the species Tityus obscurus Gervais, 1843, highlighting their involvement in the karyotypic differences found among them...
April 17, 2017: BMC Genetics
https://www.readbyqxmd.com/read/28412356/leptomycin-b-alters-the-subcellular-distribution-of-crm1-exportin-1
#18
Khatera Rahmani, David A Dean
CRM1 (chromosome maintenance region 1, Exportin 1) binds to nuclear export signals and is required for nucleocytoplasmic transport of a large variety of proteins and RNP complexes. Leptomycin B (LMB), the first specific inhibitor of CRM1 identified, binds covalently to cysteine 528 in the nuclear export signal binding region of CRM1 leading to the inhibition of protein nuclear export. Although the biochemical mechanisms of action of CRM1 inhibitors such as LMB are well studied, the subcellular effects of inhibition on CRM1 are unknown...
April 12, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28411847/the-molecular-revolution-in-cutaneous-biology-era%C3%A2-of-cytogenetics-and-copy-number%C3%A2-analysis
#19
REVIEW
Jürgen Bauer
Development of karyotyping techniques in the 1950s sparked groundbreaking reports of chromosomal aberrations in cancer, such as the Philadelphia chromosome in chronic myelogenous leukemia in 1960, followed by a number of others. Spatial resolution of karyotyping is limited and vital tumor cells are required for metaphase preparation. To overcome these limitations, DNA hybridization techniques were developed. In situ hybridization of radioactively or fluorescence labeled RNA probes onto tumor samples allowed the identification of specific genomic regions, translocations and copy number alterations...
May 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28411178/microrna-expression-profiling-of-xp11-renal-cell-carcinoma
#20
Luigi Marchionni, Masamichi Hayashi, Elisa Guida, Akira Ooki, Enrico Munari, Fayez J Jabboure, Wikum Dinalankara, Ali Raza, George J Netto, Mohammad O Hoque, Pedram Argani
Renal cell carcinomas (RCCs) with Xp11 translocation (Xp11 RCC) constitute a distinctive molecular subtype characterized by chromosomal translocations involving the Xp11.2 locus, resulting in gene fusions between the TFE3 transcription factor with a second gene (usually ASPSCR1, PRCC, NONO, or SFPQ). RCCs with Xp11 translocations comprise up to 1-4% of adult cases, frequently displaying papillary architecture with epithelioid clear cells. In order to better understand the biology of this molecularly distinct tumor subtype, we analyze the miRNA expression profiles of Xp11 Renal cell carcinoma (RCC) compared to normal renal parenchyma using microarray and quantitative reverse transcription polymerase chain reaction (RT-PCR)...
April 11, 2017: Human Pathology
keyword
keyword
20524
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"