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https://www.readbyqxmd.com/read/29776969/identifying-genetic-players-in-cell-sheet-morphogenesis-using-a-drosophila-deficiency-screen-for-genes-on-chromosome-2r-involved-in-dorsal-closure
#1
Richard D Mortensen, Regan P Moore, Stephanie M Fogerson, Hellen Y Chiou, Chimdindu V Obinero, Neel K Prabhu, Angela H Wei, Janice M Crawford, Daniel P Kiehart
Cell sheet morphogenesis characterizes key developmental transitions and homeostasis, in vertebrates and throughout phylogeny, including gastrulation, neural tube formation and wound healing. Dorsal closure, a process during Drosophila embryogenesis, has emerged as a model for cell sheet morphogenesis. ∼140 genes are currently known to affect dorsal closure and new genes are identified each year. Many of these genes were identified in screens that resulted in arrested development. Dorsal closure is remarkably robust and many questions regarding the molecular mechanisms involved in this complex biological process remain...
May 18, 2018: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/29776632/molecular-diagnosis-of-hematopoietic-neoplasms-2018-update
#2
REVIEW
Radhakrishnan Ramchandren, Tarek Jazaerly, Martin H Bluth, Ali M Gabali
Diagnosis of hematologic malignancies have matured to encompass molecular as well as phenotypic characteristics. Cytogenetic abnormalities are considered common events in this regard. These abnormalities generally consist of structural chromosomal abnormalities or gene mutations, which often are integral to the pathogenesis and subsequent evolution of an individual malignancy. Improvements made in identifying and interpreting these molecular alterations have resulted in advances in the diagnosis, prognosis, monitoring, and therapy for cancer...
June 2018: Clinics in Laboratory Medicine
https://www.readbyqxmd.com/read/29775784/genome-wide-association-mapping-of-virulence-gene-in-rice-blast-fungus-magnaporthe-oryzae-using-a-genotyping-by-sequencing-approach
#3
Siripar Korinsak, Sithichoke Tangphatsornruang, Wirulda Pootakham, Samart Wanchana, Anucha Plabpla, Chatchawan Jantasuriyarat, Sujin Patarapuwadol, Apichart Vanavichit, Theerayut Toojinda
Magnaporthe oryzae is a fungal pathogen causing blast disease in many plant species. In this study, Seventy three isolates of M. oryzae collected from rice (Oryza sativa) in 1996-2014 were genotyped using a genotyping-by-sequencing approach to detect genetic variation. Association study was performed to identify single nucleotide polymorphism (SNP) associated with virulence genes using 831 selected SNP and infection phenotypes on local and improved rice varieties. Population structure analysis revealed eight subpopulations...
May 15, 2018: Genomics
https://www.readbyqxmd.com/read/29775593/structure-of-telomerase-with-telomeric-dna
#4
Jiansen Jiang, Yaqiang Wang, Lukas Sušac, Henry Chan, Ritwika Basu, Z Hong Zhou, Juli Feigon
Telomerase is an RNA-protein complex (RNP) that extends telomeric DNA at the 3' ends of chromosomes using its telomerase reverse transcriptase (TERT) and integral template-containing telomerase RNA (TER). Its activity is a critical determinant of human health, affecting aging, cancer, and stem cell renewal. Lack of atomic models of telomerase, particularly one with DNA bound, has limited our mechanistic understanding of telomeric DNA repeat synthesis. We report the 4.8 Å resolution cryoelectron microscopy structure of active Tetrahymena telomerase bound to telomeric DNA...
May 17, 2018: Cell
https://www.readbyqxmd.com/read/29774565/local-and-systemic-regulation-of-psii-efficiency-in-triticale-infected-by-the-hemibiotrophic-pathogen-microdochium-nivale
#5
Mateusz Dyda, Iwona Wąsek, Mirosław Tyrka, Maria Wędzony, Magdalena Szechyńska-Hebda
Microdochium nivale is a fungal pathogen that causes yield losses of cereals during winter. Cold hardening under light conditions induces genotype-dependent resistance of a plant to infection. We aim to show how photosystem II (PSII) regulation contributes to plant resistance. Using mapping population of triticale doubled haploid lines, three M. nivale strains and different infection assays, we demonstrate that plants that maintain a higher maximum quantum efficiency of PSII show less leaf damage upon infection...
May 17, 2018: Physiologia Plantarum
https://www.readbyqxmd.com/read/29774413/alterations-in-histone-acetylation-following-exposure-to-60-co-%C3%AE-rays-and-their-relationship-with-chromosome-damage-in-human-lymphoblastoid-cells
#6
Xue-Lei Tian, Xue Lu, Jiang-Bin Feng, Tian-Jing Cai, Shuang Li, Mei Tian, Qing-Jie Liu
Chromosome damage is related to DNA damage and erroneous repair. It can cause cell dysfunction and ultimately induce carcinogenesis. Histone acetylation is crucial for regulating chromatin structure and DNA damage repair. Ionizing radiation (IR) can alter histone acetylation. However, variations in histone acetylation in response to IR exposure and the relationship between histone acetylation and IR-induced chromosome damage remains unclear. Hence, this study investigated the variation in the total acetylation levels of H3 and H4 in human lymphocytes exposed to 0-2 Gy 60 Co γ-rays...
May 17, 2018: Radiation and Environmental Biophysics
https://www.readbyqxmd.com/read/29773570/hdna2-nuclease-helicase-promotes-centromeric-dna-replication-and-genome-stability
#7
Zhengke Li, Bochao Liu, Weiwei Jin, Xiwei Wu, Mian Zhou, Vincent Wenzhe Liu, Ajay Goel, Zhiyuan Shen, Li Zheng, Binghui Shen
DNA2 is a nuclease/helicase that is involved in Okazaki fragment maturation, replication fork processing, and end resection of DNA double-strand breaks. Similar such helicase activity for resolving secondary structures and structure-specific nuclease activity are needed during DNA replication to process the chromosome-specific higher order repeat units present in the centromeres of human chromosomes. Here, we show that DNA2 binds preferentially to centromeric DNA The nuclease and helicase activities of DNA2 are both essential for resolution of DNA structural obstacles to facilitate DNA replication fork movement...
May 17, 2018: EMBO Journal
https://www.readbyqxmd.com/read/29772750/the-late-embryogenesis-abundant-protein-family-in-cassava-manihot-esculenta-crantz-genome-wide-characterization-and-expression-during-abiotic-stress
#8
Chunlai Wu, Wei Hu, Yan Yan, Weiwei Tie, Zehong Ding, Jianchun Guo, Guangyuan He
Late embryogenesis abundant (LEA) proteins, as a highly diverse group of polypeptides, play an important role in plant adaptation to abiotic stress; however, LEAs from cassava have not been studied in cassava. In this study, 26 LEA members were genome-wide identified from cassava, which were clustered into seven subfamily according to evolutionary relationship, protein motif, and gene structure analyses. Chromosomal location and duplication event analyses suggested that 26 MeLEAs distributed in 10 chromosomes and 11 MeLEA paralogues were subjected to purifying selection...
May 17, 2018: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/29772579/antenatal-workup-of-early-megacystis-and-selection-of-candidates-for-fetal-therapy
#9
Federica Fontanella, Leonie Duin, Phebe N Adama van Scheltema, Titia E Cohen-Overbeek, Eva Pajkrt, Mireille Bekker, Christine Willekes, Caroline J Bax, Dick Oepkes, Catia M Bilardo
OBJECTIVE: To investigate the best criteria for discriminating fetuses with isolated posterior urethral valves from those theoretically not eligible for fetal treatment because of complex megacystis, high chance of spontaneous resolution, and urethral atresia. METHODS: A retrospective national study was conducted in fetuses with megacystis detected before 17 weeks' gestation (early megacystis). RESULTS: In total, 142 cases with fetal megacystis were included in the study: 52 with lower urinary tract obstruction, 29 with normal micturition at birth, and 61 with miscellaneous syndromal associations, chromosomal and multiple structural abnormalities (complex megacystis)...
May 17, 2018: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/29771000/molecular-testing-in-holoprosencephaly
#10
Paul Kruszka, Ariel F Martinez, Maximilian Muenke
Holoprosencephaly (HPE) is a structural brain anomaly characterized by failure of the forebrain to separate during early embryogenesis. Both genetic and environmental etiologies of HPE have been discovered over the last three decades. Traditionally, the genetic workup for HPE has been a karyotype, chromosomal microarray, and/or Sanger sequencing of select genes. The recent increased availability of next-generation sequencing has changed the molecular diagnostic landscape for HPE, associating new genes with this disorder such as FGFR1...
May 17, 2018: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
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
#11
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/29769345/the-major-tegument-protein-of-bovine-herpesvirus-1-vp8-interacts-with-dna-damage-response-proteins-and-induces-apoptosis
#12
Sharmin Afroz, Ravendra Garg, Michel Fodje, Sylvia van Drunen Littel-van den Hurk
VP8, the UL47 gene product in bovine herpes virus-1 (BoHV-1), is a major tegument protein, essential for virus replication in vivo The major DNA damage response protein, ataxia telangiectasia mutated (ATM), phosphorylates Nijmegen breakage syndrome (NBS1) and structural maintenance of chromosome-1 (SMC1) proteins during the DNA damage response. VP8 was found to interact with ATM and NBS1 during transfection and BoHV-1 infection. However, VP8 did not interfere with phosphorylation of ATM in transfected or BoHV-1-infected cells...
May 16, 2018: Journal of Virology
https://www.readbyqxmd.com/read/29768882/grape-seed-extract-alone-or-combined-with-atropine-in-treatment-of-malathion-induced-neuro-and-genotoxicity
#13
Omar M E Abdel-Salam, Asmaa F Galal, Mahrousa M Hassanane, Lamiaa M Salem, Somaia A Nada, Fatma A Morsy
The aim of this study was to investigate the effect of treatment with grape seed extract (GSE) on the neurotoxic and genotoxic effects of acute malathion exposure. Rats received malathion (150 mg/kg by i.p. injection) for two successive days alone or combined with GSE at doses of 150 or 300 mg/kg, orally or with GSE at 300 mg/kg and atropine at a dose of 2 mg/kg, i.p. Malondialdehyde (MDA), reduced glutathione (GSH), nitric oxide, paraoxonase (PON1) were determined in cortex, striatum, and rest of brain tissue (subcortex)...
January 1, 2018: Journal of Nanoscience and Nanotechnology
https://www.readbyqxmd.com/read/29768402/condensin-i-protects-meiotic-cohesin-from-wapl-1-mediated-removal
#14
Margarita R Hernandez, Michael B Davis, Jianhao Jiang, Elizabeth A Brouhard, Aaron F Severson, Györgyi Csankovszki
Condensin complexes are key determinants of higher-order chromatin structure and are required for mitotic and meiotic chromosome compaction and segregation. We identified a new role for condensin in the maintenance of sister chromatid cohesion during C. elegans meiosis. Using conventional and stimulated emission depletion (STED) microscopy we show that levels of chromosomally-bound cohesin were significantly reduced in dpy-28 mutants, which lack a subunit of condensin I. SYP-1, a component of the synaptonemal complex central region, was also diminished, but no decrease in the axial element protein HTP-3 was observed...
May 16, 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29767704/gene-regulation-in-the-3d-genome
#15
Yun Li, Ming Hu, Yin Shen
The spatial organization of the genome is essential for the precise control of gene expression. Recent advances in sequencing and imaging technologies allow us to explore the 3D genome and its relationship to gene regulation at an unprecedented scale. In this review, we provide an overview of lessons learned from studying the chromatin structure and their implications in communications between gene promoters and distal cis-regulatory elements, such as enhancers. We first review the current knowledge of general genome organization, followed by the importance of chromatin folding in gene regulation...
May 14, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29765675/-leishmania-naiffi-and-leishmania-guyanensis-reference-genomes-highlight-genome-structure-and-gene-evolution-in-the-viannia-subgenus
#16
Simone Coughlan, Ali Shirley Taylor, Eoghan Feane, Mandy Sanders, Gabriele Schonian, James A Cotton, Tim Downing
The unicellular protozoan parasite Leishmania causes the neglected tropical disease leishmaniasis, affecting 12 million people in 98 countries. In South America, where the Viannia subgenus predominates, so far only L. ( Viannia ) braziliensis and L. ( V. ) panamensis have been sequenced, assembled and annotated as reference genomes. Addressing this deficit in molecular information can inform species typing, epidemiological monitoring and clinical treatment. Here, L. ( V. ) naiffi and L. ( V. ) guyanensis genomic DNA was sequenced to assemble these two genomes as draft references from short sequence reads...
April 2018: Royal Society Open Science
https://www.readbyqxmd.com/read/29764912/mitochondrial-pitrm1-peptidase-loss-of-function-in-childhood-cerebellar-atrophy
#17
Yeshaya Langer, Adi Aran, Suleyman Gulsuner, Bassam Abu Libdeh, Paul Renbaum, Dario Brunetti, Pedro-Filipe Teixeira, Tom Walsh, Sharon Zeligson, Roberta Ruotolo, Rachel Beeri, Imad Dweikat, Maher Shahrour, Ariella Weinberg-Shukron, Fouad Zahdeh, Enrico Baruffini, Elzbieta Glaser, Mary-Claire King, Ephrat Levy-Lahad, Massimo Zeviani, Reeval Segel
OBJECTIVE: To identify the genetic basis of a childhood-onset syndrome of variable severity characterised by progressive spinocerebellar ataxia, mental retardation, psychotic episodes and cerebellar atrophy. METHODS: Identification of the underlying mutations by whole exome and whole genome sequencing. Consequences were examined in patients' cells and in yeast. RESULTS: Two brothers from a consanguineous Palestinian family presented with progressive spinocerebellar ataxia, mental retardation and psychotic episodes...
May 15, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29764367/papain-like-and-legumain-like-proteases-in-rice-genome-wide-identification-comprehensive-gene-feature-characterization-and-expression-analysis
#18
Wei Wang, Xue-Mei Zhou, Han-Xian Xiong, Wan-Ying Mao, Peng Zhao, Meng-Xiang Sun
BACKGROUND: Papain-like and legumain-like proteases are proteolytic enzymes which play key roles in plant development, senescence and defense. The activities of proteases in both families could be inhibited by a group of small proteins called cystatin. Cystatin family genes have been well characterized both in tobacco and rice, suggesting their potential roles in seed development. However, their potential targets, papain-like and legumain-like proteases, have not been well characterized in plants, especially in rice, a model plant for cereal biology...
May 15, 2018: BMC Plant Biology
https://www.readbyqxmd.com/read/29762634/lineage-associated-underrepresented-permutations-laups-of-mammalian-genomic-sequences-based-on-a-jellyfish-based-laups-analysis-application-jbla
#19
Le Zhang, Ming Xiao, Jingsong Zhou, Jun Yu
Motivation: The present study addresses several important questions related to naturally underrepresented sequences: (1) Are there permutations of real genomic DNA sequences in a defined length (k-mer) and a given lineage that do not actually exist or underrepresented? (2) If there are such sequences, what are their characteristics in terms of k-mer length and base composition? Are they related to CpG or TpA underrepresentation known for human sequences? We propose that the answers to these questions are of great significance for the study of sequence-associated regulatory mechanisms, such cytosine methylation and chromosomal structures in physiological or pathological conditions such as cancer...
May 14, 2018: Bioinformatics
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
#20
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
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