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https://www.readbyqxmd.com/read/28401073/structural-insight-into-anaphase-promoting-complex-3-structure-and-docking-with-a-natural-inhibitory-compound
#1
Hamzeh Rahimi, Mohammad Ali Shokrgozar, Armin Madadkar-Sobhani, Reza Mahdian, Alireza Foroumadi, Morteza Karimipoor
BACKGROUND: Anaphase promoting complex (APC) is the biggest Cullin-RING E3 ligase and is very important in cell cycle control; many anti-cancer agents target this. APC controls the onset of chromosome separation and mitotic exit through securin and cyclin B degradation, respectively. Its APC3 subunit identifies the APC activators-Cdh1 and Cdc20. MATERIALS AND METHODS: The structural model of the APC3 subunit of APC was developed by means of computational techniques; the binding of a natural inhibitory compound to APC3 was also investigated...
2017: Advanced Biomedical Research
https://www.readbyqxmd.com/read/28399932/guideline-recommendations-for-diagnosis-and-clinical-management-of-ring14-syndrome-first-report-of-an-ad-hoc-task-force
#2
REVIEW
Berardo Rinaldi, Alessandro Vaisfeld, Sergio Amarri, Chiara Baldo, Giuseppe Gobbi, Pamela Magini, Erto Melli, Giovanni Neri, Francesca Novara, Tommaso Pippucci, Romana Rizzi, Annarosa Soresina, Laura Zampini, Orsetta Zuffardi, Marco Crimi
BACKGROUND: Ring chromosome 14 syndrome is a rare chromosomal disorder characterized by early onset refractory epilepsy, intellectual disability, autism spectrum disorder and a number of diverse health issues. RESULTS: The aim of this work is to provide recommendations for the diagnosis and management of persons affected by ring chromosome 14 syndrome based on evidence from literature and experience of health professionals from different medical backgrounds who have followed for several years subjects affected by ring chromosome 14 syndrome...
April 11, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28387189/enamel-pit-defects-and-taurodontism-in-a-patient-with-ring-chromosome-14-and-47-xxx
#3
Janice A Townsend, Letitia Lacour, Angela E Scheuerle
The purpose of this paper is to describe the clinical findings and management of a case involving a patient with co-occurring ring chromosome 14 syndrome and 47,XXX presenting with enamel pit defects and taurodontism. Ring chromosome 14 syndrome is an unusual condition with uncontrolled seizure disorder as its most significant finding; 47,XXX (trisomy X; triple X) is a more common condition and has characteristic physical and behavioral findings. Neither condition has been associated with enamel pit defects...
January 15, 2017: Journal of Dentistry for Children
https://www.readbyqxmd.com/read/28382430/dna-topoisomerase-ii-modulates-acetyl-regulation-of-cohesin-mediated-chromosome-dynamics
#4
Su-Jiun Lin, Matthew J O'Connell
Cohesin is one of three multi-protein structural maintenance of chromosome (SMC) complexes that regulate eukaryotic chromosome dynamics. It forms a ring-shaped structure that embraces sister chromatids through interphase to promote their pairing. In preparation for mitosis, most cohesin is stripped from the chromosome arms in prophase by a poorly defined process that is associated with cohesin phosphorylation. In the fission yeast Schizosaccharomyces pombe this prophase pathway is dependent on the cohesin-related Smc5/6 complex, and this requirement is heightened in Smc5/6 hypomorphs by DNA damage, replication stress and Topoisomerase II (Top2) dysfunction...
April 5, 2017: Current Genetics
https://www.readbyqxmd.com/read/28380335/open-and-closed-questions-about-open-and%C3%A2-closed-smc
#5
Hironori Niki
The tripartite ring of the bacterial condensin complex Smc-ScpAB entraps DNA to separate replicated chromosomes. The cycle of ring opening and closing is dependent on ATP hydrolysis. In this issue of Structure, Kamada et al. (2017) report on the tripartite-ring structural dynamics and their role in regulating this cycle.
April 4, 2017: Structure
https://www.readbyqxmd.com/read/28370681/disorder-of-sex-development-in-a-cat-with-chromosome-mosaicism-37-x-38-x-r-y
#6
I Szczerbal, M Stachowiak, J Nowacka-Woszuk, S Dzimira, K Szczepanska, M Switonski
An 18-month-old European shorthair cat was subjected to genetic studies due to ambiguous external genitalia (underdeveloped both penis and scrotum). Further anatomic and histopathological studies revealed the presence of abdominal, atrophic testes and uterus. Cytogenetic analysis showed two cell lines, one with X monosomy-37,X [90% of the analysed metaphase spreads], and other line had 38 chromosomes with normal X chromosome and abnormally small Y-derived chromosome-38,X,der(Y) [10%]. Further fluorescence in situ hybridization study with telomeric probe revealed a ring structure of the der(Y)...
March 30, 2017: Reproduction in Domestic Animals, Zuchthygiene
https://www.readbyqxmd.com/read/28364271/alk-rearrangement-in-specific-subtypes-of-lung-adenocarcinoma-immunophenotypic-and-morphological-features
#7
Luciana Possidente, Matteo Landriscina, Giuseppe Patitucci, Ludovica Borgia, Vittoria Lalinga, Giulia Vita
Lung adenocarcinomas are characterized by a variety of genetic and epigenetic changes that lead to activation of specific signaling pathways. This allowed the classification of lung adenocarcinomas according to genetic alterations and the clinical development of novel anticancer agents that affect the activity of specific oncoproteins. In such a context, chromosomal rearrangements that cause constitutive activation of ALK gene define a category of lung adenocarcinomas that is amenable to targeted therapy with ALK inhibitors...
May 2017: Medical Oncology
https://www.readbyqxmd.com/read/28344652/molecular-cytogenetic-characterisation-of-a-novel-de-novo-ring-chromosome-6-involving-a-terminal-6p-deletion-and-terminal-6q-duplication-in-the-different-arms-of-the-same-chromosome
#8
Nikolai Paul Pace, Frideriki Maggouta, Melissa Twigden, Isabella Borg
BACKGROUND: Ring chromosome 6 is a rare sporadic chromosomal abnormality, associated with extreme variability in clinical phenotypes. Most ring chromosomes are known to have deletions on one or both chromosomal arms. Here, we report an atypical and unique ring chromosome 6 involving both a distal deletion and a distal duplication on the different arms of the same chromosome. CASE PRESENTATION: In a patient with intellectual disability, short stature, microcephaly, facial dysmorphology, congenital heart defects and renovascular disease, a ring chromosome 6 was characterised using array-CGH and dual-colour FISH...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28333241/dysmorphic-patterns-are-associated-with-cytoskeletal-alterations-in-human-oocytes
#9
Mariabeatrice Dal Canto, Maria Cristina Guglielmo, Mario Mignini Renzini, Rubens Fadini, Clarissa Moutier, Maria Merola, Elena De Ponti, Giovanni Coticchio
STUDY QUESTION: Are specific morphological anomalies in human mature oocytes, as revealed by transmitted light microscopy, associated with intrinsic damage to the meiotic spindle and actin cytoskeleton? SUMMARY ANSWER: Aggregates of smooth endoplasmic reticulum (SER) and domains of centrally localized granular cytoplasm (GC) reflect intrinsic damage to the oocyte cytoskeleton, namely alterations in spindle size, chromosome misalignment and cortical actin disorganization...
April 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28284839/depletion-of-tumor-suppressor-kank1-induces-centrosomal-amplification-via-hyperactivation-of-rhoa
#10
Jun-Ichiro Suzuki, Badal Chandra Roy, Takunori Ogaeri, Naoto Kakinuma, Ryoiti Kiyama
Chromosome instability, frequently found in cancer cells, is caused by a deficiency in cell division, including centrosomal amplification and cytokinesis failure, and can result in abnormal chromosome content or aneuploidy. The small GTPase pathways have been implicated as important processes in cell division. We found that knockdown of a tumor suppressor protein Kank1 increases the number of cells with a micronucleus or bi-/multi-nuclei, which was likely caused by centrosomal amplification. Kank1 interacts with Daam1, known to bind to and activate a small GTPase, RhoA, in actin assembly...
March 8, 2017: Experimental Cell Research
https://www.readbyqxmd.com/read/28263302/whole-genome-sequencing-resource-identifies-18-new-candidate-genes-for-autism-spectrum-disorder
#11
Ryan K C Yuen, Daniele Merico, Matt Bookman, Jennifer L Howe, Bhooma Thiruvahindrapuram, Rohan V Patel, Joe Whitney, Nicole Deflaux, Jonathan Bingham, Zhuozhi Wang, Giovanna Pellecchia, Janet A Buchanan, Susan Walker, Christian R Marshall, Mohammed Uddin, Mehdi Zarrei, Eric Deneault, Lia D'Abate, Ada J S Chan, Stephanie Koyanagi, Tara Paton, Sergio L Pereira, Ny Hoang, Worrawat Engchuan, Edward J Higginbotham, Karen Ho, Sylvia Lamoureux, Weili Li, Jeffrey R MacDonald, Thomas Nalpathamkalam, Wilson W L Sung, Fiona J Tsoi, John Wei, Lizhen Xu, Anne-Marie Tasse, Emily Kirby, William Van Etten, Simon Twigger, Wendy Roberts, Irene Drmic, Sanne Jilderda, Bonnie MacKinnon Modi, Barbara Kellam, Michael Szego, Cheryl Cytrynbaum, Rosanna Weksberg, Lonnie Zwaigenbaum, Marc Woodbury-Smith, Jessica Brian, Lili Senman, Alana Iaboni, Krissy Doyle-Thomas, Ann Thompson, Christina Chrysler, Jonathan Leef, Tal Savion-Lemieux, Isabel M Smith, Xudong Liu, Rob Nicolson, Vicki Seifer, Angie Fedele, Edwin H Cook, Stephen Dager, Annette Estes, Louise Gallagher, Beth A Malow, Jeremy R Parr, Sarah J Spence, Jacob Vorstman, Brendan J Frey, James T Robinson, Lisa J Strug, Bridget A Fernandez, Mayada Elsabbagh, Melissa T Carter, Joachim Hallmayer, Bartha M Knoppers, Evdokia Anagnostou, Peter Szatmari, Robert H Ring, David Glazer, Mathew T Pletcher, Stephen W Scherer
We are performing whole-genome sequencing of families with autism spectrum disorder (ASD) to build a resource (MSSNG) for subcategorizing the phenotypes and underlying genetic factors involved. Here we report sequencing of 5,205 samples from families with ASD, accompanied by clinical information, creating a database accessible on a cloud platform and through a controlled-access internet portal. We found an average of 73.8 de novo single nucleotide variants and 12.6 de novo insertions and deletions or copy number variations per ASD subject...
March 6, 2017: Nature Neuroscience
https://www.readbyqxmd.com/read/28255082/pten-regulates-glutamine-flux-to-pyrimidine-synthesis-and-sensitivity-to-dihydroorotate-dehydrogenase-inhibition
#12
Deepti Mathur, Elias Stratikopoulos, Sait Ozturk, Nicole Steinbach, Sarah Pegno, Sarah Schoenfeld, Raymund Yong, Vundavalli V Murty, John M Asara, Lewis C Cantley, Ramon Parsons
Metabolic changes induced by oncogenic drivers of cancer contribute to tumor growth and are attractive targets for cancer treatment. Here, we found that increased growth of PTEN-mutant cells was dependent on glutamine flux through the de novo pyrimidine synthesis pathway, which created sensitivity to the inhibition of dihydroorotate dehydrogenase, a rate-limiting enzyme for pyrimidine ring synthesis. S-phase PTEN-mutant cells showed increased numbers of replication forks, and inhibitors of dihydroorotate dehydrogenase led to chromosome breaks and cell death due to inadequate ATR activation and DNA damage at replication forks...
March 2, 2017: Cancer Discovery
https://www.readbyqxmd.com/read/28254403/the-divisome-at-25-the-road-ahead
#13
REVIEW
Tanneke den Blaauwen, Leendert W Hamoen, Petra Anne Levin
The identification of the FtsZ ring by Bi and Lutkenhaus in 1991 was a defining moment for the field of bacterial cell division. Not only did the presence of the FtsZ ring provide fodder for the next 25 years of research, the application of a then cutting-edge approach-immunogold labeling of bacterial cells-inspired other investigators to apply similarly state-of-the-art technologies in their own work. These efforts have led to important advances in our understanding of the factors underlying assembly and maintenance of the division machinery...
February 27, 2017: Current Opinion in Microbiology
https://www.readbyqxmd.com/read/28250910/optimizing-the-microscopy-time-schedule-for-chromosomal-dosimetry-of-high-dose-and-partial-body-irradiations
#14
Volodymyr A Vinnikov
The methodology of cytogenetic triage can be improved by optimizing a schedule of microscopy for different exposure scenarios. Chromosome aberrations were quantified by microscopy in human blood lymphocytes irradiated in vitro to ~2, 4, and 12 Gy acute (60)Co γ-rays mixed with the unirradiated blood simulating 10%, 50%, 90%, and 100% exposure and in along with a sample from a homogeneous exposure to ~20 Gy. Biodosimetry workload was statistically modeled assuming that 0.5, 1, 5, or 25 h was available for scoring one case or for analysis of up to 1000 cells or 100 dicentrics plus centric rings by one operator...
2017: Genome Integrity
https://www.readbyqxmd.com/read/28249098/zapa-and-zapb-form-an-ftsz-independent-structure-at-midcell
#15
Jackson A Buss, Nick T Peters, Jie Xiao, Thomas G Bernhardt
Cell division in Escherichia coli begins with the polymerization of FtsZ into a ring-like structure, the Z-ring, at midcell. All other division proteins are thought to require the Z-ring for recruitment to the future division site. Here, it is reported that the Z-ring associated proteins ZapA and ZapB form FtsZ-independent structures at midcell. Upon Z-ring disruption by the FtsZ polymerization antagonist SulA, ZapA remained at midcell as a cloud-like accumulation. Using ZapA(N60Y), a variant defective for interaction with FtsZ, it was established that these ZapA structures form without a connection to the Z-ring...
March 1, 2017: Molecular Microbiology
https://www.readbyqxmd.com/read/28247607/-assessment-of-hematopoiesis-and-cytogenetics-changes-in-interventional-radiologists
#16
Qihong Zhou, Huijuan Yu, Fengyun Fu, Haipeng Ye
Objective: To investigate hematopoiesis and cytogenetics changes in staff of interventional radiology. Methods: A total of 121 intervention radiation workers, 245 common radiation workers and 100 medical personnel (healthy control) without exposure to radiation were enrolled in the study. The peripheral lymphocyte chromosomal aberrations and micronucleus were detected, and the result of white blood cells examination was analyzed. Results: Compared with common radiation group and healthy control group, decreases in white blood cells count, neutrophil ratio, and increase in lymphocyte ratio were observed in intervention radiation group (all P<0...
May 25, 2016: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
https://www.readbyqxmd.com/read/28238653/tuned-smc-arms-drive-chromosomal-loading-of-prokaryotic-condensin
#17
Frank Bürmann, Alrun Basfeld, Roberto Vazquez Nunez, Marie-Laure Diebold-Durand, Larissa Wilhelm, Stephan Gruber
SMC proteins support vital cellular processes in all domains of life by organizing chromosomal DNA. They are composed of ATPase "head" and "hinge" dimerization domains and a connecting coiled-coil "arm." Binding to a kleisin subunit creates a closed tripartite ring, whose ∼47-nm-long SMC arms act as barrier for DNA entrapment. Here, we uncover another, more active function of the bacterial Smc arm. Using high-throughput genetic engineering, we resized the arm in the range of 6-60 nm and found that it was functional only in specific length regimes following a periodic pattern...
March 2, 2017: Molecular Cell
https://www.readbyqxmd.com/read/28236631/causes-of-intrauterine-fetal-death-are-changing-in-recent-years
#18
Hiroko Takita, Junichi Hasegawa, Masamitsu Nakamura, Tatsuya Arakaki, Tomohiro Oba, Ryu Matsuoka, Akihiko Sekizawa
OBJECTIVE: To investigate, how causes of intrauterine fetal death (IUFD) have changed in recent years with the advancement of prenatal diagnosis at a single perinatal center in Japan. METHODS: Medical records were retrospectively reviewed for all cases of IUFDs that occurred between 2001 and 2014. The most commonly associated causes of fetal deaths were compared between 2001-2007 and 2008-2014. RESULTS: The number of IUFD after 20 weeks' gestation/all deliveries in our center was 38/6878 cases (0...
February 25, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28230827/astaxanthin-modifies-clastogenic-effects-of-ionizing-radiation-in-vitro-in-peripheral-blood-lymphocytes-of-the-persons-recovered-from-acute-radiation-sickness
#19
D А Kurinnyi, S R Rushkovsky, O B Dybska, G V Dubrovina, M А Pilinska
AIM: To assess radioprotective activity of astaxanthin toward radiation-induced in vitro cytogenetic effects in human peripheral blood lymphocytes (PBL). MATERIALS AND METHODS: PBL from the cleanup workers exposed to ionizing radiation at high doses in 1986 during accident on Chornobyl nuclear power plant and who were diagnosed with acute radiation sickness of the first and second degrees, were cultured in vitro. Astaxanthin was added into the culture medium at a final concentration of 20...
December 2016: Experimental Oncology
https://www.readbyqxmd.com/read/28220956/releasing-the-cohesin-ring-a-rigid-scaffold-model-for-opening-the-dna-exit-gate-by-pds5-and-wapl
#20
Zhuqing Ouyang, Hongtao Yu
The ring-shaped ATPase machine, cohesin, regulates sister chromatid cohesion, transcription, and DNA repair by topologically entrapping DNA. Here, we propose a rigid scaffold model to explain how the cohesin regulators Pds5 and Wapl release cohesin from chromosomes. Recent studies have established the Smc3-Scc1 interface as the DNA exit gate of cohesin, revealed a requirement for ATP hydrolysis in ring opening, suggested regulation of the cohesin ATPase activity by DNA and Smc3 acetylation, and provided insights into how Pds5 and Wapl open this exit gate...
February 21, 2017: BioEssays: News and Reviews in Molecular, Cellular and Developmental Biology
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