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https://www.readbyqxmd.com/read/29331044/journey-of-oocyte-from-metaphase-i-to-metaphase-ii-stage-in-mammals
#1
Alka Sharma, Meenakshi Tiwari, Anumegha Gupta, Ashutosh N Pandey, Pramod K Yadav, Shail K Chaube
In mammals, journey from metaphase-I (M-I) to metaphase-II (M-II) is important since oocyte extrude first polar body (PB-I) and gets converted into haploid gamete. The molecular and cellular changes associated with meiotic cell cycle progression from M-I to M-II stage and extrusion of PB-I remain ill understood. Several factors drive oocyte meiosis from M-I to M-II stage. The mitogen-activated protein kinase3/1 (MAPK3/1), signal molecules and Rho family GTPases act through various pathways to drive cell cycle progression from M-I to M-II stage...
January 13, 2018: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/29322562/a-pure-21q22-3-deletion-identified-in-a-patient-with-mild-phenotypic-features
#2
Ilária Cristina Sgardioli, Matheus de Melo Copelli, Elaine Lustosa-Mendes, Társis Paiva Vieira, Vera Lúcia Gil-da-Silva-Lopes
Partial deletions at the chromosome 21 have been rarely reported and in the majority of descriptions are associated with ring chromosome 21, resulting in terminal deletions of 21q22.3 and a large phenotypic variability (Roberson et al.,2011).
January 11, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29321281/dissecting-protein-complexes-in-branching-microtubule-nucleation-using-meiotic-xenopus-egg-extracts
#3
Jae-Geun Song, Sabine Petry
The mitotic spindle is the microtubule-based apparatus that reliably segregates chromosomes during cell division. Recently, it was discovered that microtubules originate within the mitotic spindle by nucleating off of existing spindle microtubules. This mechanism, termed branching microtubule nucleation, allows the efficient amplification of microtubules while preserving their original polarity as required in the spindle. Three molecular players are known to be involved in this process, namely, the protein TPX2, the protein complex augmin, and the gamma-tubulin ring complex; however, little is known about the assembly of the protein complexes...
January 10, 2018: Cold Spring Harbor Protocols
https://www.readbyqxmd.com/read/29311228/tpxl-1-activates-aurora-a-to-clear-contractile-ring-components-from-the-polar-cortex-during-cytokinesis
#4
Sriyash Mangal, Jennifer Sacher, Taekyung Kim, Daniel Sampaio Osório, Fumio Motegi, Ana Xavier Carvalho, Karen Oegema, Esther Zanin
During cytokinesis, a signal from the central spindle that forms between the separating anaphase chromosomes promotes the accumulation of contractile ring components at the cell equator, while a signal from the centrosomal microtubule asters inhibits accumulation of contractile ring components at the cell poles. However, the molecular identity of the inhibitory signal has remained unknown. To identify molecular components of the aster-based inhibitory signal, we developed a means to monitor the removal of contractile ring proteins from the polar cortex after anaphase onset...
January 8, 2018: Journal of Cell Biology
https://www.readbyqxmd.com/read/29298360/chromosome-passenger-complex-is-required-for-the-survival-of-cells-with-ring-chromosomes-in-fission-yeast
#5
Ahmed G K Habib, Kanako Sugiura, Masaru Ueno
Ring chromosomes are circular chromosomal abnormalities that have been reported in association with some genetic disorders and cancers. In Schizosaccharomyces pombe, lack of function of protection of telomere 1 (Pot1) or telomerase catalytic subunit (Trt1) results in survivors with circular chromosomes. Hitherto, it is poorly understood how cells with circular chromosomes survive and how circular chromosomes are maintained. Fission yeast Cut17/Bir1, Ark1, Pic1, and Nbl1 is a conserved chromosome passenger complex (CPC) functioning mainly throughout mitosis...
2018: PloS One
https://www.readbyqxmd.com/read/29296763/a-case-of-lenalidomide-dependent-myelodysplastic-syndrome
#6
Ira J Miller, Wei-Tong Hsu, James Weisberger, Parameswaran Venugopal
A man with cytopenias, dysplasia, excess blasts, P53 and RUNX1 mutations, and ring chromosome 7 recovered after stopping lenalidomide.
July 11, 2017: Blood Advances
https://www.readbyqxmd.com/read/29295942/gene-duplication-and-aneuploidy-trigger-rapid-evolution-of-herbicide-resistance-in-common-waterhemp
#7
Dal-Hoe Koo, Mithila Jugulam, Karthik Putta, Ivan B Cuvaca, Dallas Peterson, Randall S Currie, Bernd Friebe, Bikram S Gill
An increase in gene copy number is often associated with changes in the number and structure of chromosomes, as has been widely observed in yeast and eukaryotic tumors, yet little is known about stress-induced chromosomal changes in plants. Previously, we reported that the EPSPS (5-enolpyruvylshikimate-3-phosphate synthase) gene, the molecular target of glyphosate, was amplified at the native locus and on an extra chromosome in glyphosate-resistant Amaranthus tuberculatus. Here we report that the extra chromosome is a ring chromosome termed Extra Circular Chromosome carrying Amplified EPSPS (ECCAE)...
January 2, 2018: Plant Physiology
https://www.readbyqxmd.com/read/29286516/cases-of-the-staff-unaccounted-exposure-during-the-construction-of-the-protective-shell-for-a-new-confinement-at-the-chnpp-site
#8
L K Bezdrobna, L V Tarasenko, T V Tsyganok, V A Kurochkina, V O Sushko, L I Shvayko
OBJECTIVE: cytogenetic control of the staff radiation exposure level during the construction of the protective shell for a new confinement at the ChNPP site. MATERIALS AND METHODS: A cytogenetic examination was carried out for 32 staff persons from the contracting organ izations involved into construction of the protective shell for a new confinement. Additionally, for the goal of com parison, 28 persons who did not have professional contacts with the radiation factors were inspected...
December 2017: Problemy Radiat︠s︡iĭnoï Medyt︠s︡yny Ta Radiobiolohiï
https://www.readbyqxmd.com/read/29285121/persistent-m%C3%A3-llerian-duct-syndrome-a-case-report-and-review
#9
Xiaoya Ren, Di Wu, Chunxiu Gong
Persistent Müllerian duct syndrome (PMDS) is a rare type of male pseudohermaphroditism caused by a deficiency in anti-Müllerian hormone (AMH) or a defect in its type II receptor. The current study reports the clinical data and results of the genetic analysis of a 17-month-old male diagnosed with PMDS. The clinical manifestations of the patient included a left transverse testicular ectopia and bilateral cryptorchidism. Pelvic ultrasonography indicated two testes on the same left inguinal ring and left inguinal hernia and uterine tissue located at the left rear of the bladder...
December 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29279323/the-hidden-genomic-and-transcriptomic-plasticity-of-giant-marker-chromosomes-in-cancer
#10
Gemma Macchia, Marco Severgnini, Stefania Purgato, Doron Tolomeo, Hilen Casciaro, Ingrid Cifola, Alberto L'Abbate, Anna Loverro, Orazio Palumbo, Massimo Carella, Laurence Bianchini, Giovanni Perini, Gianluca De Bellis, Fredrik Mertens, Mariano Rocchi, Clelia T Storlazzi
Genome amplification in the form of rings or giant rod-shaped marker chromosomes is a common genetic alteration in soft tissue tumours. The mitotic stability of these structures is often rescued by perfectly functioning analphoid neocentromeres, which therefore significantly contribute to cancer progression. Here, we disentangled the genomic architecture of many neocentromeres stabilizing marker chromosomes in well-differentiated liposarcoma and lung sarcomatoid carcinoma samples. In cells carrying heavily rearranged RGMs, these structures were assembled as patchworks of multiple short amplified sequences, disclosing an extremely high level of complexity and definitely ruling out the existence of regions prone to the neocentromere seeding...
December 26, 2017: Genetics
https://www.readbyqxmd.com/read/29278534/cohesin-mutations-in-myeloid-malignancies-made-simple
#11
Aaron D Viny, Ross L Levine
PURPOSE OF REVIEW: Recurrent loss of function mutations within genes of the cohesin complex have been identified in myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). STAG2 is the most commonly mutated cohesin member in AML as well as solid tumors. STAG2 is recurrently, mutated in Ewing's Sarcoma, bladder cancer, and glioblastoma, and is one of only ten genes known to be recurrently mutated in over four distinct tissue types of human cancer RECENT FINDINGS: The cohesin complex, a multiprotein ring, is canonically known to align and stabilize replicated chromosomes prior to cell division...
December 22, 2017: Current Opinion in Hematology
https://www.readbyqxmd.com/read/29260726/role-of-special-cross-links-in-structure-formation-of-bacterial-dna-polymer
#12
Tejal Agarwal, G P Manjunath, Farhat Habib, Pavana Lakshmi Vaddavalli, Apratim Chatterji
Using data from contact maps of the DNA-polymer of Escherichia coli (E. Coli) (at kilobase pair resolution) as an input to our model, we introduce cross-links between monomers in a bead-spring model of a ring polymer at very specific points along the chain. Via suitable Monte Carlo simulations, we show that the presence of these cross-links leads to a particular organization of the chain at large (micron) length scales of the DNA. We also investigate the structure of a ring polymer with an equal number of cross-links at random positions along the chain...
December 20, 2017: Journal of Physics. Condensed Matter: An Institute of Physics Journal
https://www.readbyqxmd.com/read/29249819/chromothripsis-in-acute-myeloid-leukemia-biological-features-and-impact-on-survival
#13
M C Fontana, G Marconi, J D M Feenstra, E Fonzi, C Papayannidis, A G L di Rorá, A Padella, V Solli, E Franchini, E Ottaviani, A Ferrari, C Baldazzi, N Testoni, I Iacobucci, S Soverini, T Haferlach, V Guadagnuolo, L Semerad, M Doubek, M Steurer, Z Racil, S Paolini, M Manfrini, M Cavo, G Simonetti, R Kralovics, G Martinelli
Chromothripsis is a one-step genome-shattering catastrophe resulting from disruption of one or few chromosomes in multiple fragments and consequent random rejoining and repair. This study define incidence of chromothripsis in 395 newly-diagnosed adult acute myeloid leukemia (AML) patients from three institutions, its impact on survival and its genomic background. SNP 6.0 or CytoscanHD Array (Affymetrix®) were performed on all samples. We detected chromothripsis with a custom algorithm in 26/395 patients. Patients harboring chromothripsis had higher age (P=0...
December 18, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/29247589/whole-exome-sequencing-to-identify-genetic-markers-for-trastuzumab-induced-cardiotoxicity
#14
Chihiro Udagawa, Hiromi Nakamura, Hiroshi Ohnishi, Kenji Tamura, Tatsunori Shimoi, Masayuki Yoshida, Teruhiko Yoshida, Yasushi Totoki, Tatsuhiro Shibata, Hitoshi Zembutsu
Although trastuzumab-induced cardiotoxicity is an important determinant to limit the use of this drug, the molecular mechanism of risk for this toxicity is not well understood. To identify genetic variants determining the risk of trastuzumab-induced cardiotoxicity, we performed whole exome sequencing of germline DNA samples from 9 patients with trastuzumab-induced cardiotoxicity, and conducted a case-control association study of 2,258 genetic variants between 9 cases (with trastuzumab-induced cardiotoxicity) and general Japanese population controls registered in Human Genetic Variation Database (HGVD)...
December 16, 2017: Cancer Science
https://www.readbyqxmd.com/read/29245369/-i-chironomus-i-i-alchichica-i-sp-n-diptera-chironomidae-from-lake-alchichica-mexico
#15
Raúl Acosta, Narcís Prat, Carles Ribera, Paraskeva Michailova, María Del Carmen Hernández-Fonseca, Javier Alcocer
Morphological analysis of all developmental stages (except female), mitochondrial DNA sequences from cytochrome c oxidase subunit I (cox1) and cytological analysis of the polytene chromosomes were used to describe a new species of Chironomus found in the littoral and profundal zones of an endorheic, warm-monomictic lake in Mexico. Male imago is distinguished by the shape of superior volsella and by an antennal and bristle ratio lower than two. The pupa is characterized by the spur morphology of abdominal segment VIII...
December 15, 2017: Zootaxa
https://www.readbyqxmd.com/read/29237938/molecular-and-cytogenetic-characterization-of-a-fetus-with-mosaic-ring-chromosome-13-a-very-rare-case
#16
Xin-Rong Zhao, Xu Han, Yan-Lin Wang, Wen-Jing Hu
No abstract text is available yet for this article.
December 20, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/29237741/liberating-cohesin-from-cohesion
#17
REVIEW
Kerry Bloom
Cohesin was identified through its major role in holding sister chromatids together. We are learning through analysis of cohesin and other members of the protein family (SMC [structural maintenance of chromosomes]) and their regulators that these ring complexes contribute to chromosome organization and dynamics throughout the cell cycle. We need to consider not only how ring complexes are regulated but how they interact with their fluctuating chromatin substrate.
November 1, 2017: Genes & Development
https://www.readbyqxmd.com/read/29229761/an-unusual-diphosphatase-from-the-phnp-family-cleaves-reactive-fad-photoproducts
#18
Guillaume Aw Beaudoin, Qiang Li, Steven D Bruner, Andrew D Hanson
Flavins are notoriously photolabile, but while the photoproducts derived from the iso -alloxazine ring are well known the other photoproducts are not. In the case of FAD, typically the main cellular flavin, the other photoproducts are predicted to include four- and five-carbon sugars linked to ADP. These FAD photoproducts were shown to be potent glycating agents, more so than ADP-ribose. Such toxic compounds would require disposal via an ADP-sugar diphosphatase or other route. Comparative analysis of bacterial genomes uncovered a candidate disposal gene that is chromosomally clustered with genes for FAD synthesis or transport and is predicted to encode a protein of the PhnP cyclic phosphodiesterase family...
December 11, 2017: Biochemical Journal
https://www.readbyqxmd.com/read/29226546/small-supernumerary-marker-chromosome-15-and-a-ring-chromosome-15-associated-with-a-15q26-3-deletion-excluding-the-igf1r-gene
#19
András Szabó, Márta Czakó, Kinga Hadzsiev, Balázs Duga, Zsolt Bánfai, Katalin Komlósi, Béla Melegh
Array comparative genomic hybridization is essential in the investigation of chromosomal rearrangements associated with epilepsy, intellectual disability, and dysmorphic features. In many cases deletions, duplications, additional marker chromosomes, and ring chromosomes originating from chromosome 15 lead to abnormal phenotypes. We present a child with epilepsy, cardiac symptoms, severely delayed mental and growth development, behavioral disturbances and characteristic dysmorphic features showing a ring chromosome 15 and a small supernumerary marker chromosome...
December 11, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29223476/fecundity-in-an-infertile-man-with-r-15-a-challenge-to-the-current-paradigm
#20
Hamid Kalantari, Hamideh Karimi, Seyed Navid Almadani, Mostafa Fakhri, Pegah Mokhtari, Hamid Gourabi, Anahita Mohseni Meybodi
Ring chromosome 15 [r(15)] is a rare condition with a mild-to-severe growth failure, mental disabilities, café-au-lait spots, specific facial features, fertility difficulties and other minor dysmorphic stigmata. Of almost 50 affected individuals reported in the literature, none were assessed for the precise breakpoint positioning, which creates uncertainty in defining a specific phenotype for the deleted segment. This study reports for the first time the vertical transmission of r(15) in three consecutive generations of a family, including a subfertile man, his mother and his newborn infant...
November 22, 2017: Reproductive Biomedicine Online
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