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https://www.readbyqxmd.com/read/28454383/fam53b-truncation-caused-by-t-10-19-q26-q13-chromosome-translocation-in-acute-lymphoblastic-leukemia
#1
Ioannis Panagopoulos, Ludmila Gorunova, Synne Torkildsen, Anne Tierens, Sverre Heim, Francesca Micci
RNA-sequencing of the patient's bone marrow detected fusion transcripts in which the coding sequence of the FAM53B gene (from 10q26) was fused to a genomic sequence (from 19q13) that mapped upstream of the SLC7A10 locus. Reverse transcription-polymerase chain reaction together with Sanger sequencing verified the presence of this fusion transcript. The FAM53B fusion transcript is not expected to produce any chimeric protein. However, it may code for a truncated FAM53B protein consisting of the first 302 amino acids of FAM53B together with amino acids from the 19q13 sequence...
April 2017: Oncology Letters
https://www.readbyqxmd.com/read/28454357/expression-regulation-and-function-of-mir-495-in-healthy-and-tumor-tissues
#2
Hongli Chen, Xiaman Wang, Ju Bai, Aili He
MicroRNA-495 (miR-495) is a small non-coding RNA encoded by a gene located on chromosome 14 (14q32.31). Its expression is regulated by the transcription factors EF12 and EF47, in addition to promoter methylation status and the fusion oncoprotein mixed-lineage leukemia-AF9. Previous studies suggest that miR-495 is involved in various developmental, immunological and inflammatory processes in healthy tissue, and in the proliferation, invasion, metastasis and drug resistance of cancer cells. The role miR-495 serves in tumors is controversial...
April 2017: Oncology Letters
https://www.readbyqxmd.com/read/28454331/centrosome-amplification-in-chondrosarcomas-a-primary-cell-culture-and-cryopreserved-tumor-sample-study
#3
Carla Aparecida Pinheiro, Iberê Cauduro Soares, Valter Penna, Jeremy Squire, Rui Manuel Vieira Reis, Sandra Regina Morini da Silva, Isabela de Carvalho, Marjori Leiva Camparoto, Maicon Fernando Zanon da Silva, Adhemar Longatto Longatto Filho
The genetics background underlying the aggressiveness of chondrosarcoma (CS) is poorly understood. One possible cause of malignant transformation is chromosomal instability, which involves an error in mitotic segregation due to numerical and/or functional abnormalities of centrosomes. The present study aimed to evaluate centrosome amplification in cryopreserved samples of tumor tissue from patients with CS. An analysis was performed on 3 primary cultures of tumors from patients who underwent surgery between January 2012 and December 2012 at the Department of Orthopedics at the Barretos Cancer Hospital (Barretos, Brazil)...
March 2017: Oncology Letters
https://www.readbyqxmd.com/read/28454313/a-novel-t-9-22-11-translocation-involving-11q24-in-a-patient-with-chronic-myeloid-leukemia-a-case-report
#4
Jaehyeon Lee, Dal Sik Kim, Hye Soo Lee, Sam Im Choi, Yong Gon Cho
Variant Philadelphia chromosome translocations involving chromosomes other than 9 and 22 have been reported in 5-10% of patients with chronic myeloid leukemia (CML). As part of the three-way variant t(9;22;11) in patients with CML, 11q24 is a novel region that has not previously been investigated. A 22-year-old male exhibiting chronic phase CML developed a recurrence of the same phase subsequent to the interruption of imatinib treatment and showed the same chromosomal abnormality, t(9;22;11)(q34;q11.2;q24), that was detected at the initial diagnosis...
March 2017: Oncology Letters
https://www.readbyqxmd.com/read/28454232/philadelphia-chromosome-with-acute-myeloid-leukemia-and-concurrent-large-b-cell-lymphoma-of-different-origins-a-case-report
#5
Yang Dai, Xiao Shuai, Pu Kuang, Lin Wang, Ting Liu, Ting Niu
Philadelphia chromosome with de novo acute myeloid leukemia (Ph + AML) arising from t(9;22) is an uncommon occurrence. Ph + AML is known to respond poorly to conventional chemotherapy. To the best of our knowledge, simultaneous diagnosis of de novo Ph + AML and lymphoma in a single patient has not yet been reported. The present study reports the case of a 37-year-old female patient who presented with bone pain, fever and lymphadenopathy, and was diagnosed as Ph + AML with concurrent diffuse large B cell lymphoma...
March 2017: Oncology Letters
https://www.readbyqxmd.com/read/28453857/fbxl19-recruitment-to-cpg-islands-is-required-for-rnf20-mediated-h2b-mono-ubiquitination
#6
Bum-Kyu Lee, Jiwoon Lee, Wenwen Shen, Catherine Rhee, Haewon Chung, Jonghwan Kim
Histone H2B lysine 120 mono-ubiquitination (H2Bub1) catalyzed by Rnf20 has been implicated in normal differentiation of embryonic stem (ES) and adult stem cells. However, it remains unknown how Rnf20 is recruited to its specific target chromosomal loci for the establishment of H2Bub1. Here, we reveal that Fbxl19, a CxxC domain-containing protein, promotes H2Bub1 at the promoters of CpG island-containing genes by interacting with Rnf20. We show that up-regulation of Fbxl19 increases the level of global H2Bub1 in mouse ES cells, while down-regulation of Fbxl19 reduces the level of H2Bub1...
April 27, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28453634/recent-sex-chromosome-divergence-despite-ancient-dioecy-in-the-willow-salix-viminalis
#7
Pascal Pucholt, Alison E Wright, Lei Liu Conze, Judith E Mank, Sofia Berlin
Sex chromosomes can evolve when recombination is halted between a pair of chromosomes, and this can lead to degeneration of the sex-limited chromosome. In the early stages of differentiation sex chromosomes are homomorphic, and even though homomorphic sex chromosomes are very common throughout animals and plants, we know little about the evolutionary forces shaping these types of sex chromosomes. We used DNA- and RNA-Seq data from females and males to explore the sex chromosomes in the female heterogametic willow, Salix viminalis, a species with ancient dioecy but with homomorphic sex chromosomes...
April 27, 2017: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/28453612/meiosis-specific-proteins-meiob-and-spata22-cooperatively-associate-with-the-ssdna-binding-rpa-complex-and-dna-double-strand-breaks%C3%A2
#8
Yang Xu, Roger A Greenberg, Ernst Schonbrunn, P Jeremy Wang
Meiotic recombination ensures faithful segregation of homologous chromosomes during meiosis and generates genetic diversity in gametes. MEIOB, a meiosis-specific ssDNA-binding homologue of RPA1, is essential for meiotic recombination. Here we investigated the molecular mechanisms of MEIOB by characterizing its binding partners SPATA22 and RPA. We find that MEIOB and SPATA22 form an obligate complex and contain defined interaction domains. The interaction between these two proteins is unusual in that nearly any deletion in the binding domains abolishes the interaction...
April 27, 2017: Biology of Reproduction
https://www.readbyqxmd.com/read/28453611/modsara-a-computationally-efficient-r-package-for-cnv-identification
#9
Feifei Xiao, Yue Niu, Ning Hao, Yanxun Xu, Zhilin Jin, Heping Zhang
Summary: Chromosomal copy number variation (CNV) refers to a polymorphism that a DNA segment presents deletion or duplication in the population. The computational algorithms developed to identify this type of variation are usually of high computational complexity. Here we present a user-friendly R package, modSaRa, designed to perform copy number variants identification. The package is developed based on a change-point based method with optimal computational complexity and desirable accuracy...
April 26, 2017: Bioinformatics
https://www.readbyqxmd.com/read/28453575/genome-wide-association-study-of-red-blood-cell-traits-in-hispanics-latinos-the-hispanic-community-health-study-study-of-latinos
#10
Chani J Hodonsky, Deepti Jain, Ursula M Schick, Jean V Morrison, Lisa Brown, Caitlin P McHugh, Claudia Schurmann, Diane D Chen, Yong Mei Liu, Paul L Auer, Cecilia A Laurie, Kent D Taylor, Brian L Browning, Yun Li, George Papanicolaou, Jerome I Rotter, Ryo Kurita, Yukio Nakamura, Sharon R Browning, Ruth J F Loos, Kari E North, Cathy C Laurie, Timothy A Thornton, Nathan Pankratz, Daniel E Bauer, Tamar Sofer, Alex P Reiner
Prior GWAS have identified loci associated with red blood cell (RBC) traits in populations of European, African, and Asian ancestry. These studies have not included individuals with an Amerindian ancestral background, such as Hispanics/Latinos, nor evaluated the full spectrum of genomic variation beyond single nucleotide variants. Using a custom genotyping array enriched for Amerindian ancestral content and 1000 Genomes imputation, we performed GWAS in 12,502 participants of Hispanic Community Health Study and Study of Latinos (HCHS/SOL) for hematocrit, hemoglobin, RBC count, RBC distribution width (RDW), and RBC indices...
April 28, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28453390/the-torments-of-the-cohesin-ring
#11
Alap P Chavda, Keven Ang, Dmitri Ivanov
Cohesin is a ring-shaped protein complex which comprises the Smc1, Smc3 and Scc1 subunits. It topologically embraces chromosomal DNA to connect sister chromatids and stabilize chromatin loops. It is required for proper chromosomal segregation, DNA repair and transcriptional regulation. We have recently reported that cohesin rings can adopt a "collapsed" rod-like conformation which is driven by the interaction between the Smc1 and Smc3 coiled coil arms and is regulated by post-translational modifications. The "collapsed" conformation plays a role in cohesin ring assembly and its loading on the DNA...
February 27, 2017: Nucleus
https://www.readbyqxmd.com/read/28453371/megalocornea-associated-with-microduplications-on-chromosome-16
#12
P Samalia, A Buller
No abstract text is available yet for this article.
April 28, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28453298/primary-ovarian-insufficiency-with-t-5-13-a-case-report-and-literature-review-on-disrupted-genes
#13
F Mohamadhashem, M Rafati, F Hoseininasab, S Rostami, R Tabatabaie, S Rezai, M Keramatipour, S R Ghaffari
OBJECTIVES: To report a woman with primary ovarian insufficiency (POI) with reciprocal translocation between chromosomes 5 and 13. METHODS: Chromosomal analysis (G-banding) of a 39-year-old woman with elevated gonadotropin levels and secondary amenorrhea and review of the literature with a special focus on disrupted genes at the reported breakpoints. RESULTS: A reciprocal translocation between the long arms of chromosomes 5 and 13 was identified in the patient (46,XX,t(5;13)(q13;q14))...
April 28, 2017: Climacteric: the Journal of the International Menopause Society
https://www.readbyqxmd.com/read/28449382/current-use-of-chromosomal-microarray-by-australian-paediatricians-and-implications-for-the-implementation-of-next-generation-sequencing
#14
Victoria McKay, Daryl Efron, Elizabeth E Palmer, Susan M White, Chris Pearson, Margie Danchin
AIM: Chromosomal microarray (CMA) is an important diagnostic test for children with multiple congenital anomalies or certain developmental behavioural problems suggestive of an underlying genetic diagnosis. However, there are medical and ethical complexities to its use and few Australian policies to guide practice. We aimed to describe the current practice of Australian paediatricians in relation to CMA testing. We hypothesised that there are knowledge gaps in their use of CMA. METHODS: Online survey completed between September 2015 and January 2016 by paediatricians in secondary care settings...
April 27, 2017: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/28449374/genetic-variability-in-adenosine-deaminase-like-contributes-to-variation-in-alcohol-preference-in-mice
#15
Heidi M B Lesscher, Alexis Bailey, Louk J M J Vanderschuren
BACKGROUND: A substantial part of the risk for alcohol use disorder (AUD) is determined by genetic factors. We previously used chromosome substitution (CSS) mice, to identify a QTL for alcohol preference on mouse chromosome 2. The aim of this study was to identify candidate genes within this QTL that confer the risk for alcohol preference. METHODS: In order to delineate the neurobiological underpinnings of alcohol consumption, we expanded on the QTL approach to identify candidate genes for high alcohol preference in mice...
April 27, 2017: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/28449121/tri-directional-anaphases-as-a-novel-chromosome-segregation-defect-in-human-oocytes
#16
Jenna Haverfield, Nicola L Dean, Diana Nöel, Gaudeline Rémillard-Labrosse, Veronique Paradis, Isaac-Jacques Kadoch, Greg FitzHarris
STUDY QUESTION: What are the chromosome segregation errors in human oocyte meiosis-I that may underlie oocyte aneuploidy? SUMMARY ANSWER: Multiple modes of chromosome segregation error were observed, including tri-directional anaphases, which we attribute to loss of bipolar spindle structure at anaphase-I. WHAT IS KNOWN ALREADY: Oocyte aneuploidy is common and associated with infertility, but mechanistic information on the chromosome segregation errors underlying these defects is scarce...
April 25, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28449076/qtl-analysis-of-the-developmental-response-to-l-glutamate-in-arabidopsis-roots-and-its-genotype-by-environment-interactions
#17
Pia Walch-Liu, Rhonda C Meyer, Thomas Altmann, Brian G Forde
Primary root growth in Arabidopsis and a number of other species has previously been shown to be remarkably sensitive to the presence of external glutamate, with glutamate signalling eliciting major changes in root architecture. Using two recombinant inbred lines from reciprocal crosses between Arabidopsis accessions C24 and Col-0, we have identified one large-effect quantitative trait locus (QTL), GluS1, and two minor QTLs, GluS2 and GluS3, which together accounted for 41% of the phenotypic variance in glutamate sensitivity...
April 26, 2017: Journal of Experimental Botany
https://www.readbyqxmd.com/read/28449043/potent-dna-strand-annealing-activity-associated-with-mouse-mcm2%C3%A2-7-heterohexameric-complex
#18
Zhiying You, Hisao Masai
Mini-chromosome maintenance (Mcm) is a central component for DNA unwinding reaction during eukaryotic DNA replication. Mcm2∼7, each containing a conserved ATPase motif, form a six subunit-heterohexamer. Although the reconstituted Mcm2∼7-Cdc45-GINS (CMG) complex displays DNA unwinding activity, the Mcm2∼7 complex does not generally exhibit helicase activity under a normal assay condition. We detected a strong DNA strand annealing activity in the purified mouse Mcm2∼7 heterohexamer, which promotes rapid reassociation of displaced complementary single-stranded DNAs, suggesting a potential cause for its inability to exhibit DNA helicase activity...
April 25, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28449029/a-genome-wide-association-study-identifies-nucleotide-variants-at-siglec5-and-defa1a3-as-risk-loci-for-periodontitis
#19
Matthias Munz, Christina Willenborg, Gesa M Richter, Yvonne Jockel-Schneider, Christian Graetz, Ingmar Staufenbiel, Jürgen Wellmann, Klaus Berger, Bastian Krone, Per Hoffmann, Nathalie van der Velde, André G Uitterlinden, Lisette C P G M de Groot, Amr Sawalha, Haner Direskeneli, Güher Saruhan-Direskeneli, Esra Guzeldemir-Akcakanat, Gencay Keceli, Matthias Laudes, Barbara Noack, Alexander Teumer, Birte Holtfreter, Thomas Kocher, Peter Eickholz, Jörg Meyle, Christof Doerfer, Corinna Bruckmann, Wolfgang Lieb, Andre Franke, Stefan Schreiber, Rahime M Nohutcu, Jeanette Erdmann, Bruno G Loos, Soeren Jepsen, Henrik Dommisch, Arne S Schaefer
Periodontitis is one of the most common inflammatory diseases, with a prevalence of 11% worldwide for the severe forms and an estimated heritability of 50%. The disease is characterized by destruction of the alveolar bone due to an aberrant host inflammatory response to a dysbiotic oral microbiome. Previous genome-wide association studies (GWAS) have reported several suggestive susceptibility loci. Here, we conducted a GWAS using a German and Dutch case-control sample of aggressive periodontitis (AgP, 896 cases, 7,104 controls), a rare but highly severe and early-onset form of periodontitis, validated the associations in a German sample of severe forms of the more moderate phenotype chronic periodontitis (CP) (993 cases, 1,419 controls)...
April 25, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28448850/perturbation-of-drosha-and-dicer-expression-by-human-papillomavirus-16-oncoproteins
#20
Mallory E Harden, Karl Munger
Many tumors, including cervical carcinoma, show dysregulated expression of the microRNA processing machinery, specifically DROSHA and DICER. Some cervical cancers exhibit chromosome 5p amplifications and DROSHA is the most significantly upregulated transcript and is observed in all tumors with 5p gain. DROSHA and DICER mRNA levels, however, are higher in HPV positive cancer lines than in an HPV negative cervical carcinoma line. We show that high-risk HPV E6/E7 expression in HPV negative C33A cervical carcinoma cells and primary human epithelial cell causes increased expression of DROSHA and DICER mRNA and protein...
April 24, 2017: Virology
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