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https://www.readbyqxmd.com/read/29356453/association-between-1p13-polymorphisms-and-peripheral-arterial-disease-in-a-chinese-population-with-diabetes
#1
Jiangyuan Qin, Jinli Tian, Guanhua Liu, Yazhong Zhang, Luobing Tian, Yanfeng Zhen, Hewei Zhang, Jing Xu, Xueling Sun, Hui Fang
AIMS/INTRODUCTION: Variants on chromosome 1p13 have been associated with coronary artery disease and acute myocardial infarction risk in different ethnics. This study was aimed to investigate the association between 1p13 polymorphisms and the development of peripheral artery disease (PAD) in a Chinese population with type 2 diabetic mellitus (T2DM). MATERIALS AND METHODS: 1p13 polymorphisms rs599839, rs646776 and rs12740374 were assessed in a cohort of 882 T2DM cases including 440 T2DM with PAD (DM+PAD group) and 442 cases without PAD (DM group)...
January 22, 2018: Journal of Diabetes Investigation
https://www.readbyqxmd.com/read/29356406/origin-of-sex-chromosomes-in-six-groups-of-rana-rugosa-frogs-inferred-from-a-sex-linked-dna-marker
#2
Akira Oike, Koichiro Watanabe, Mi-Sook Min, Koji Tojo, Masahide Kumagai, Yuya Kimoto, Tadashi Yamashiro, Takanori Matsuo, Maho Kodama, Yoriko Nakamura, Masaru Notsu, Takeyoshi Tochimoto, Hiroyuki Fujita, Maki Ota, Etsuro Ito, Shigeki Yasumasu, Masahisa Nakamura
Each vertebrate species, as a general rule, has either the XX/XY or ZZ/ZW chromosomes by which sex is determined. However, the Japanese Rana (R.) rugosa frog is an exception, possessing both sex-determining combinations within one species, varying with region of origin. We collected R. rugosa frogs from 104 sites around Japan and South Korea and determined the nucleotide sequences of the mitochondrial 12S ribosomal RNA gene. Based on the sequences, R. rugosa frogs were divided into four groups from Japan and one from South Korea...
August 2017: Journal of Experimental Zoology. Part A, Ecological and Integrative Physiology
https://www.readbyqxmd.com/read/29356403/do-sex-reversal-procedures-differentially-affect-agonistic-behaviors-and-sex-steroid-levels-depending-on-the-sexual-genotype-in-nile-tilapia
#3
Vincent Gennotte, Balagizi Akonkwa, Charles Mélard, Mathieu Denoël, Charlotte A Cornil, Carole Rougeot
In Nile tilapia Oreochromis niloticus, phenotypic males and females with different sexual genotypes (XX, XY, YY) have particular behavioral and physiological traits. Compared to natural XX females and XY males, XY and YY females and XX males expressed higher level of aggressiveness that could be related to higher levels of 17β-estradiol and 11-ketotestosterone, respectively. Our results suggest that the presence of a Y chromosome increases aggressiveness in females. However, since the same relationship between aggressiveness and the Y chromosome is not observed in males, we can hypothesize that the differences in aggressiveness are not directly dependent on the genotype but on the sex reversal procedures applied on young fry during their sexual differentiation to produce these breeders...
April 2017: Journal of Experimental Zoology. Part A, Ecological and Integrative Physiology
https://www.readbyqxmd.com/read/29356285/response-to-ponatinib-before-hematopoietic-stem-cell-transplantation-in-a-child-with-relapsed-philadelphia-chromosome-positive-acute-lymphoblastic-leukemia
#4
Masaki Yamamoto, Tsukasa Hori, Keita Igarashi, Hiroyuki Shimada, Hiroyuki Tsutsumi
No abstract text is available yet for this article.
January 2018: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/29356153/mun-meristem-unstructured-encoding-a-spc24-homolog-of-ndc80-kinetochore-complex-affects-development-through-cell-division-in-arabidopsis-thaliana
#5
Jinwoo Shin, Goowon Jeong, Jong-Yoon Park, Hoyeun Kim, Ilha Lee
Kinetochore, a protein super-complex on the centromere of chromosomes, mediates chromosome segregation during cell division by providing attachment sites for spindle microtubules. The NDC80 complex, composed of four proteins, NDC80, NUF2, SPC24, and SPC25, is localized at the outer kinetochore and connects spindle fibers to the kinetochore. Although it is conserved across species, functional studies of this complex are rare in Arabidopsis. Here, we characterize a recessive mutant, meristem unstructured-1 (mun-1), exhibiting an abnormal phenotype with unstructured shoot apical meristem caused by ectopic expression of the WUSCHEL gene in unexpected tissues...
January 21, 2018: Plant Journal: for Cell and Molecular Biology
https://www.readbyqxmd.com/read/29355682/identification-of-cyp703a3-3-and-analysis-of-regulatory-role-of-cyp703a3-in-rice-anther-cuticle-and-pollen-exine-development
#6
Zhengfu Yang, Yingxin Zhang, Lianping Sun, Peipei Zhang, Ling Liu, Ping Yu, Dandan Xuan, Xiaojiao Xiang, Weixun Wu, Liyong Cao, Shihua Cheng
Anther cuticle and pollen exine are two elaborated lipid-soluble barriers protecting pollen grains from environmental and biological stresses. However, less is known about the mechanisms underlying the synthesis of these lipidic polymers. Here, we identified a no-pollen male-sterility mutant cyp703a3-3 from indica restorer line Zhonghui 8015 (Zh8015) mutant library treated with 60Coγ-ray radiation. Histological analysis indicated that cyp703a3-3 underwent abnormal tapetal cells development, produced few orbicules and secreted less sporopollenin precursors to anther locule, as well as cutin monomers on anther...
January 17, 2018: Gene
https://www.readbyqxmd.com/read/29355596/ubiquitin-activating-enzyme-e1-inhibitor-pyr-41-retards-sperm-enlargement-after-fusion-to-the-egg
#7
Keiichi Yoshida, Woojin Kang, Akihiro Nakamura, Natsuko Kawano, Maito Hanai, Mami Miyado, Yoshitaka Miyamoto, Maki Iwai, Toshio Hamatan, Hidekazu Saito, Kenji Miyado, Akihiro Umezawa
The ubiquitin-proteasome system, which is initiated by a single ubiquitin-activating enzyme E1 (UBE1), is involved in male reproduction via spermatogenesis and function in mammals. Here we explored the influence of UBE1-specific inhibitor, 4[4-(5-nitro-furan-2-ylmethylene)-3,5-dioxo-pyrazolidin-1-yl]-benzoic acid ethyl ester (pyrazone-41 or PYR-41) in female reproduction. UBE-1 was detected by immunoblotting and immunocytochemistry in mouse eggs and was localized mainly under the egg plasma membrane. PYR-41 pretreatment suppresses the development of eggs into two-cell embryos...
January 17, 2018: Reproductive Toxicology
https://www.readbyqxmd.com/read/29355539/the-advantage-of-recombination-when-selection-is-acting-at-many-genetic-loci
#8
Donal A Hickey, G Brian Golding
Natural selection can act at many loci across the genome. But as the number of polymorphic loci increases linearly, the number of possible genotypic combinations increases exponentially. Consequently, a finite population - even a very large population - contains only a small sample of all possible multi-locus genotypes. In this paper, we revisit the classic Fisher-Muller models of recombination, taking into account the abundant standing variation that is commonly seen in natural populations. We show that the generation of new genotypic combinations through recombination is an important component of adaptive evolution based on multi-locus selection...
January 17, 2018: Journal of Theoretical Biology
https://www.readbyqxmd.com/read/29354852/cadmium-exposure-triggers-genotype-dependent-changes-in-seed-vigor-and-germination-of-tomato-offspring
#9
Marcia Eugenia Amaral Carvalho, Fernando Angelo Piotto, Marina Lima Nogueira, Francisco Guilhien Gomes-Junior, Helena Maria Carmignani Pescarin Chamma, Daniel Pizzaia, Ricardo Antunes Azevedo
Although negative effects on the offspring fitness can be triggered by the mother-plant exposure to environmental stresses, some plants are able to "remember" past incidents and enhance the progeny tolerance. Here, the mineral profile, cytogenetic modifications, and physiological potential of seeds from two tomato cultivars, with contrasting tolerance degrees to cadmium (Cd) toxicity, were evaluated after plant exposure to this metal. Both cultivars exhibited high Cd translocation to the seeds; however, the tolerant tomato accumulated more Cd than did the sensitive one...
January 21, 2018: Protoplasma
https://www.readbyqxmd.com/read/29354594/surgical-correction-of-grade-iii-hypertelorism
#10
Ehtesham Ul Haq, Muhammad Umar Qayyum, Muhammad Iran Ilahı, Saadat Ali Janjua, Ayesha Aslam, Rubbab Zahra
Orbital hypertelorism is an increased distance between the bony orbits and can be caused by frontonasal malformations, craniofacial clefts, frontoethmoidal encephaloceles, glial tumors or dermoid cysts of the root of the nose, and various syndromic or chromosomal disorders. We report a series of 7 cases of hypertelorism that were treated in our hospital. The underlying causes in our series were craniofacial clefts 0 to 14 (4 cases), craniofacial clefts 1 to 12 (1 case), and frontonasal encephalocele (2 cases), all congenital...
December 2017: Journal of the Korean Association of Oral and Maxillofacial Surgeons
https://www.readbyqxmd.com/read/29354018/joint-nonparametric-correction-estimator-for-excess-relative-risk-regression-in-survival-analysis-with-exposure-measurement-error
#11
Ching-Yun Wang, Harry Cullings, Xiao Song, Kenneth J Kopecky
Observational epidemiological studies often confront the problem of estimating exposure-disease relationships when the exposure is not measured exactly. In the paper, we investigate exposure measurement error in excess relative risk regression, which is a widely used model in radiation exposure effect research. In the study cohort, a surrogate variable is available for the true unobserved exposure variable. The surrogate variable satisfies a generalized version of the classical additive measurement error model, but it may or may not have repeated measurements...
November 2017: Journal of the Royal Statistical Society. Series B, Statistical Methodology
https://www.readbyqxmd.com/read/29353598/new-role-of-ltr-retrotransposons-for-emergence-and-expansion-of-disease-resistance-genes-and-high-copy-gene-families-in-plants
#12
Seungill Kim, Doil Choi
Long terminal repeat retrotransposons (LTR-Rs) are major elements creating new genome structure for expansion of plant genomes. However, in addition to the genome expansion, the role of LTR-Rs has been unexplored. In this study, we constructed new reference genome sequences of two pepper species (Capsicum baccatum and C. chinense), and updated the reference genome of C. annuum. We focused on the study for speciation of Capsicum spp. and its driving forces. We found that chromosomal translocation, unequal amplification of LTR-Rs, and recent gene duplications in the pepper genomes as major evolutionary forces for diversification of Capsicum spp...
January 22, 2018: BMB Reports
https://www.readbyqxmd.com/read/29353549/delineation-of-the-frequency-and-boundary-of-chromosomal-copy-number-variations-in-paediatric-neuroblastoma
#13
Nicholas Ho, Hui Peng, Chelsea Mayoh, Pei Y Liu, Bernard Atmadibrata, Glenn M Marshall, Jinyan Li, Tao Liu
Neuroblastoma, the most common solid tumour in early childhood, is characterized by very frequent chromosomal copy number variations (CNVs). While chromosome 2p amplification, 17q gain, 1p and 11q deletion in human neuroblastoma tissues are well-known, the exact frequencies and boundaries of the chromosomal CNVs have not been delineated. We analysed the publicly available single nucleotide polymorphism (SNP) array data which were originally generated by the Therapeutically Applicable Research to Generate Effective Treatments (TARGET) initiative, defined the frequencies and boundaries of chromosomes 2p11...
January 22, 2018: Cell Cycle
https://www.readbyqxmd.com/read/29353507/increased-prevalence-of-abnormal-vertebral-patterning-in-fetuses-and-neonates-with-trisomy-21
#14
Pauline C Schut, Clara M A Ten Broek, Titia E Cohen-Overbeek, Marianna Bugiani, Eric A P Steegers, Alex J Eggink, Frietson Galis
PURPOSE: To assess the prevalence of an abnormal number of ribs in a cohort of fetuses and neonates with trisomy 21 and compare this with a subgroup of fetuses without anomalies. MATERIALS AND METHODS: Radiographs of 67 deceased fetuses, neonates and infants that were diagnosed with trisomy 21 were reviewed. Terminations of pregnancy were included. The control group was composed of 107 deceased fetuses, neonates and infants without known chromosomal abnormalities, structural malformations, infections or placental pathology...
January 21, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29353506/evaluation-of-the-impact-of-sperm-morphology-on-embryo-aneuploidy-rates-in-a-donor-oocyte-program
#15
Onder Coban, Munevver Serdarogullari, Zehra Onar Sekerci, Ekrem Murat Bilgin, Nedime Serakinci
This study investigates the correlation between sperm morphology and the incidence of embryo aneuploidy in an oocyte donation program. A total of 1,165 embryos from 103 patients have been analyzed by fluorescent in situ hybridization (FISH) for numerical abnormalities in chromosome numbers 13, 18, 21, X, and Y. Data has been evaluated in five groups according to sperm morphology, which has been assessed according to the Kruger's strict criteria. The results did not show any difference in paternal (p = 0.878), maternal (p = 0...
January 20, 2018: Systems Biology in Reproductive Medicine
https://www.readbyqxmd.com/read/29353439/transgenesis-by-microparticle-bombardment-for-live-imaging-of-fluorescent-proteins-in-pristionchus-pacificus-germline-and-early-embryos
#16
Satoshi Namai, Asako Sugimoto
Pristionchus pacificus is a free-living nematode used as a model organism for evolutionary developmental and ecological biology. Although a transgenic technique to form complex arrays by microinjection has been established in P. pacificus, transgene expression from the array in the germline and early embryos tends to be silenced. Here, we established a method to integrate transgenes into the genome of P. pacificus using microparticle bombardment with hygromycin B selection. Additionally, we isolated a mutant exhibiting significantly lower autofluorescence in the germline and early embryos, facilitating visualization of transgene-derived fluorescent proteins for live imaging...
January 20, 2018: Development Genes and Evolution
https://www.readbyqxmd.com/read/29353342/genetic-analysis-of-17-y-str-loci-from-1026-individuals-of-han-populations-in-jilin-province-northeast-china
#17
Wen-Qing Chen, Zhen Feng, Wei Jin, Yi-Jun Zhang, Qiang Wang, Pei Li, Shi-Lin Li, Lan-Hai Wei, Gang Liu
In this study, 17 Y-chromosomal short tandem repeats (Y-STRs) were analyzed in 1026 male individuals of Han populations in Changchun City, Jilin Province, Northeast China. The haplotype diversity is 0.99892. The Changchun Han population is close to most Han populations and different from most other minority populations of China. Additionally, the Changchun Han show more affiliations with Han populations in North and Northeast China. These data provide a reference for the Y-STR database in Jilin Province, and they may be valuable for population genetic analysis...
January 20, 2018: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/29353144/effects-of-the-hdac-inhibitor-scriptaid-on-the-in%C3%A2-vitro-development-of-bovine-embryos-and-on-imprinting-gene-expression-levels
#18
R Laguna-Barraza, M J Sánchez-Calabuig, A Gutiérrez-Adán, D Rizos, S Pérez-Cerezales
This study examines the effects of the histone deacetylation inhibitor scriptaid (SCR) on preimplantation embryo development in vitro and on imprinting gene expression. We hypothesized that SCR would increase histone acetylation levels, enhance embryonic genome activation, and regulate imprinting and X-chromosome inactivation (XCI) in in vitro produced bovine embryos. Zygotes were cultured in vitro in presence or absence of SCR added at different time points. We assessed cleavage and blastocyst rates as well as the quality of blastocysts through: (i) differential cell counts; (ii) survival after vitrification/thawing and (iii) gene expression analysis -including imprinted genes...
January 11, 2018: Theriogenology
https://www.readbyqxmd.com/read/29352717/should-we-use-cell-of-origin-and-dual-protein-expression-in-treating-dlbcl
#19
REVIEW
Peter A Riedell, Sonali M Smith
Treatment outcomes in diffuse large B-cell lymphoma (DLBCL) following standard R-CHOP (rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone) therapy is highly variable and dependent on a number of clinical, biologic, and genetic features. The identification of molecular heterogeneity via gene expression profiling dichotomizes patients based on the cell of origin (COO) model into germinal center B-cell-like (GCB) and activated B-cell-like (ABC) subsets, with ABC-DLBCL having a worse outcome...
December 24, 2017: Clinical Lymphoma, Myeloma & Leukemia
https://www.readbyqxmd.com/read/29352703/inotuzumab-ozogamicin-in-combination-with-low-intensity-chemotherapy-for-older-patients-with-philadelphia-chromosome-negative-acute-lymphoblastic-leukaemia-a-single-arm-phase-2-study
#20
Hagop Kantarjian, Farhad Ravandi, Nicholas J Short, Xuelin Huang, Nitin Jain, Koji Sasaki, Naval Daver, Naveen Pemmaraju, Joseph D Khoury, Jeffrey Jorgensen, Yesid Alvarado, Marina Konopleva, Guillermo Garcia-Manero, Tapan Kadia, Musa Yilmaz, Gautam Bortakhur, Jan Burger, Steven Kornblau, William Wierda, Courtney DiNardo, Alessandra Ferrajoli, Jovitta Jacob, Rebecca Garris, Susan O'Brien, Elias Jabbour
BACKGROUND: Inotuzumab ozogamicin, an anti-CD22 monoclonal antibody bound to a toxin, calicheamicin, has shown single-agent activity in relapsed or refractory acute lymphoblastic leukaemia. We aimed to assess the activity and safety of inotuzumab ozogamicin in combination with low-intensity chemotherapy in older patients with acute lymphoblastic leukaemia. METHODS: We did a single-arm, phase 2 study at the MD Anderson Cancer Center (Houston, TX, USA). Eligible patients were aged 60 years or older and had newly diagnosed, Philadelphia chromosome-negative, acute lymphoblastic leukaemia, and an Eastern Cooperative Oncology Group performance status of 3 or lower...
January 15, 2018: Lancet Oncology
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