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https://www.readbyqxmd.com/read/28944967/risk-for-chromosomal-aberrations-in-apparently-isolated-intra-uterine-growth-restriction-a-systematic-review
#1
REVIEW
Lena Sagi-Dain, Amir Peleg, Shlomi Sagi
OBJECTIVE: To perform a systematic review examining the risk of chromosomal aberrations in apparently isolated intra-uterine growth restriction (IUGR). METHODS: Search was conducted by research librarian in five databases. By independent screening of 2894 references, two investigators selected original studies examining the risk of chromosomal aberrations in apparently isolated IUGR diagnosed at the second and third trimesters using ultrasound. We excluded studies describing IUGR combined with additional fetal anomalies detected by ultrasound and those where fetuses with structural anomalies or aneuploidy were not reported...
September 25, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28944868/microrna%C3%A2-198-contributes-to-lupus-nephritis-progression-by-inhibition-of-phosphatase-and-tensin-homology-deleted-on-chromosome-ten-expression
#2
Danyu Cui, Dingji Zhu, Hao Ren, Jingli Lin, Weinan Lai, Qin Huang, Jinjun Zhao, Min Yang
A number of short noncoding microRNAs (miRs) have been demonstrated to be highly expressed in many kidney diseases such as renal cancer and lupus nephritis (LN); however, these results have not been extensively investigated. The aim of the present study was to investigate the expression and function of miR‑198 in LN based on the previous studies. miR‑198 expression level in systemic lupus erythematosus (SLE) patients was determined to determine its clinicopathological significance and effect on glomerular cell proliferation...
September 19, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28944865/middle-pregnancy-ultrasound-screening-for-fetal-chromosomal-diseases
#3
Li Liu, Ping Zhou, Zemin Cao, Xiaojun Tan
Prenatal examinations, including serological screening and ultrasound screening, are the methods determining a risk of fetal chromosomal disease. The current study is aimed to assess whether ultrasound screening can effectively assist the screening for fetal chromosomal disease among pregnant women with a single abnormal serum marker. Following serologic screening, pregnant women at 18‑32 weeks underwent systematic fetal ultrasound analysis. In this study, 99 pregnant women with an abnormal serum marker and fetal ultrasound abnormalities underwent prenatal diagnosis of amniotic fluid or umbilical cord blood, with confirmation by pathological examination performed following birth or induced labor...
September 20, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28944836/aberrant-promoter-methylation-of-multiple-genes-in-vsmc-proliferation-induced-by-hcy
#4
Sheng-Chao Ma, Jian-Cheng Cao, Hui-Ping Zhang, Yun Jiao, Hui Zhang, Yang-Yang He, Yan-Hua Wang, Xiao-Ling Yang, An-Ning Yang, Jue Tian, Ming-Hao Zhang, Xiao-Ming Yang, Guan-Jun Lu, Shao-Ju Jin, Yue-Xia Jia, Yi-Deng Jiang
Vascular smooth muscle cell (VSMC) proliferation is a primary pathological event in atherosclerosis (AS), and homocysteine (Hcy) is an independent risk factor for AS. However, the underlying mechanisms are still lagging. Studies have used the combination of methylation of promoters of multiple genes to diagnose tumors, thus the aim of the current study was to investigate the role of methylation status of several genes in VSMCs treated with Hcy. CpG islands were identified in the promoters of platelet‑derived growth factor (PDGF), p53, phosphatase and tensin homologue on chromosome 10 (PTEN) and mitofusin 2 (MFN2)...
September 19, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28944830/application-of-the-amniotic-fluid-metabolome-to-the-study-of-fetal-malformations-using-down-syndrome-as-a-specific-model
#5
Jun Huang, Jinhua Mo, Guili Zhao, Qiyin Lin, Guanhui Wei, Weinan Deng, Dunjin Chen, Bolan Yu
Although monitoring and diagnosis of fetal diseases in utero remains a challenge, metabolomics may provide an additional tool to study the etiology and pathophysiology of fetal diseases at a functional level. In order to explore specific markers of fetal disease, metabolites were analyzed in two separate sets of experiments using amniotic fluid from fetuses with Down syndrome (DS) as a model. Both sets included 10‑15 pairs of controls and cases, and amniotic fluid samples were processed separately; metabolomic fingerprinting was then conducted using UPLC‑MS...
September 18, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28944451/expression-of-mirna-26b-5p-and-its-target-trps1-is-associated-with-radiation-exposure-in-post-chernobyl-breast-cancer
#6
Christina M Wilke, Julia Hess, Sergiy V Klymenko, Vadim V Chumak, Liubov M Zakhartseva, Elena V Bakhanova, Annette Feuchtinger, Axel K Walch, Martin Selmansberger, Herbert Braselmann, Ludmila Schneider, Adriana Pitea, Julia Steinhilber, Falko Fend, Hans C Bösmüller, Horst Zitzelsberger, Kristian Unger
Ionising radiation is a well-recognised risk factor for the development of breast cancer, however, it is unknown whether radiation-specific molecular oncogenic mechanisms exist. We investigated post-Chernobyl breast cancers from radiation-exposed female clean-up workers and non-exposed controls for molecular changes. Radiation-associated alterations identified in the discovery cohort (n=38) were subsequently validated in a second cohort (n=39). Increased expression of hsa-miR-26b-5p was associated with radiation exposure in both of the cohorts...
September 25, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28944319/the-ethics-of-fertility-preservation-for-pediatric-patients-with-differences-disorders-of-sex-development
#7
Lisa Campo-Engelstein, Diane Chen, Arlene B Baratz, Emilie K Johnson, Courtney Finlayson
Differences (disorders) of sex development are diverse conditions with variations in chromosomal, gonadal, and/or genital development. Fertility potential in this population is variable. Recent investigations into fertility potential in those previously thought to be infertile suggest that the majority may have fertility potential through experimental protocols. Fertility preservation may be more successful if pursued in childhood. As fertility research and techniques advance, it is important to carefully consider pediatric ethical issues specific to this population, including gonadectomy, consent/assent, experimental treatment and false hope, cost and insurance coverage, genetic transmission to offspring, and gender dysphoria...
June 1, 2017: J Endocr Soc
https://www.readbyqxmd.com/read/28944309/particle-coatings-but-not-silver-ions-mediate-genotoxicity-of-ingested-silver-nanoparticles-in-a-mouse-model
#8
Sameera Nallanthighal, Cadia Chan, Dhruba J Bharali, Shaker A Mousa, Elizabeth Vásquez, Ramune Reliene
Incorporation of silver nanoparticles (AgNPs) in toothpaste, food containers, dietary supplements and other consumer products can result in oral exposure to AgNPs and/or silver ions (Ag(+)) released from the surface of AgNPs. To examine whether ingestion of AgNPs or Ag(+) results in genotoxic damage and whether AgNP coatings modulate the effect, we exposed mice orally to 20 nm citrate-coated AgNPs, polyvinylpyrrolidone (PVP)-coated AgNPs, silver acetate or respective vehicles at a 4 mg/kg dose (equivalent to 800x the EPA reference dose for Ag) for 7 days...
January 2017: NanoImpact
https://www.readbyqxmd.com/read/28944241/disturbed-chromosome-segregation-and-multipolar-spindle-formation-in-a-patient-with-champ1-mutation
#9
Nobuhiko Okamoto, Yuki Tsuchiya, Ichiro Kuki, Toshiyuki Yamamoto, Hirotomo Saitsu, Daiju Kitagawa, Naomichi Matsumoto
BACKGROUND: Patients with intellectual disability (ID) typically exhibit significant defects in both intelligence and adaptive behavior. Aberration of several genes involved in proper progression of mitosis has been reported to underlie ID. Here, we report a new patient with a novel mutation of CHAMP1. METHODS: Whole exome sequencing (WES) analysis was performed. We isolated lymphoblast cells from the CHAMP1 patient and observed chromosome segregation. RESULTS: We identified a de novo frameshift mutation in CHAMP1...
September 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28944229/targeting-trisomic-treatments-optimizing-dyrk1a-inhibition-to-improve-down-syndrome-deficits
#10
REVIEW
Megan Stringer, Charles R Goodlett, Randall J Roper
Overexpression of Dual-specificity tyrosine-phosphorylated regulated kinase 1A (DYRK1A), located on human chromosome 21, may alter molecular processes linked to developmental deficits in Down syndrome (DS). Trisomic DYRK1A is a rational therapeutic target, and although reductions in Dyrk1a genetic dosage have shown improvements in trisomic mouse models, attempts to reduce Dyrk1a activity by pharmacological mechanisms and correct these DS-associated phenotypes have been largely unsuccessful. Epigallocatechin-3-gallate (EGCG) inhibits DYRK1A activity in vitro and this action has been postulated to account for improvement of some DS-associated phenotypes that have been reported in preclinical studies and clinical trials...
September 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28944139/a-novel-cask-mutation-identified-in-siblings-exhibiting-developmental-disorders-with-without-microcephaly
#11
Toshiyuki Seto, Takashi Hamazaki, Satsuki Nishigaki, Satoshi Kudo, Haruo Shintaku, Yumiko Ondo, Keiko Shimojima, Toshiyuki Yamamoto
The calcium/calmodulin-dependent serine protein kinase gene (CASK) mutations are associated with various neurological disorders; a syndrome of intellectual disability (ID) and microcephaly with pontine and cerebellar hypoplasia (MICPCH), FG syndrome, X-linked ID with/without nystagmus, epileptic encephalopathy, and autistic spectrum disorder (ASD). Next generation sequencing was performed to elucidate genetic causes in siblings exhibiting developmental disorders, and a novel CASK mutation, c.1424G>T (p.Ser475Ile), was detected in a male patient with ID, ASD, and microcephaly...
August 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28943966/ligands-of-the-peroxisome-proliferator-activated-receptor-%C3%AE-inhibit-hepatoce-llular-carcinoma-cell-proliferation
#12
Zhe Jin, Baoxing Jia, Yu Fu, Ludong Tan, Qingmin Chen, Peiqiang Jiang, Yahui Liu
This study was designed to investigate the regulatory role of the peroxisome proliferator-activated receptor γ (PPARγ) in the growth of hepatocellular carcinoma cells under the hypothesis that the levels of the phosphatase and tensin homologue deleted on chromosome 10 (PTEN) mRNA and the phosphorylated Akt (pAkt) protein would be affected by the presence of different receptor ligand concentrations. SMMC-7721 hepatocellular carcinoma cells were cultured in the presence of different concentrations of either 15-deoxyprostaglandin J2 (15-d-PGJ2) or pioglitazone and experiments were conducted in order to determine cell growth changes and measure levels of PTEN mRNA and pAkt protein...
October 2017: Oncology Letters
https://www.readbyqxmd.com/read/28943951/recurrent-alterations-of-the-ww-domain-containing-oxidoreductase-gene-spanning-the-common-fragile-site-fra16d-in-multiple-myeloma-and-monoclonal-gammopathy-of-undetermined-significance
#13
Hiroshi Handa, Yoshiko Sasaki, Hikaru Hattori, Lobna Alkebsi, Tetsuhiro Kasamatsu, Takayuki Saitoh, Takeki Mitsui, Akihiko Yokohama, Norifumi Tsukamoto, Morio Matsumoto, Hirokazu Murakami
The putative tumor suppressor gene WW domain containing oxidoreductase (WWOX) spans a common fragile site (CFS) on chromosome 16q23.3. CFSs are regions of profound genomic instability and sites for genomic deletions in cancer cells. Therefore, WWOX is structurally altered in diverse nonhematological cancer types. However, the function of WWOX in hematological tumor types, including multiple myeloma (MM) and monoclonal gammopathy of undetermined significance (MGUS) remains unclear. WWOX expression and methylation in patients with MM, MGUS, or noninvasive lymphoma (control) were analyzed using reverse transcription- and methylation specific-polymerase chain reaction analysis...
October 2017: Oncology Letters
https://www.readbyqxmd.com/read/28943925/genomic-and-immunohistochemical-characterisation-of-a-lacrimal-gland-oncocytoma-and-review-of-literature
#14
Lauge Hjorth Mikkelsen, Simon Andreasen, Linea Cecilie Melchior, Marta Persson, Jeppe Dyrberg Andersen, Vania Pereira, Peter Bjerre Toft, Niels Morling, Göran Stenman, Steffen Heegaard
The aim of the present study was to report the genetic and immunohistochemical profile of a rare case of lacrimal gland oncocytoma. A 20-year-old male underwent magnetic resonance imaging (MRI) due to viral encephalitis. Notably, the MRI revealed a multicystic tumor in the left lacrimal gland. A lateral orbitotomy was performed and the tumor was completely excised. Four months following surgery, the patient was free of symptoms. Histopathologically, the tumor was composed of large, eosinophilic and polyhedral cells with small round nuclei...
October 2017: Oncology Letters
https://www.readbyqxmd.com/read/28943900/influence-of-chronic-inflammation-on-bcl-2-and-pcna-expression-in-prostate-needle-biopsy-specimens
#15
Michael Glover, Shardul Soni, Qinghu Ren, Gregory T Maclennan, Pingfu Fu, Sanjay Gupta
The association between inflammation and cancer has been established in certain forms of human malignancies; however, its role in prostate cancer remains unclear. The present study investigates a possible association between chronic inflammation and the development of epithelial neoplasia in the prostate. Needle biopsy specimens were obtained from patients with serum prostate-specific antigen levels >4 ng/ml, evaluated for morphological findings, and immunostained for Bcl-2 and proliferating cell nuclear antigen (PCNA)...
October 2017: Oncology Letters
https://www.readbyqxmd.com/read/28943874/a-genome-wide-prediction-and-identification-of-intergenic-small-rnas-by-comparative-analysis-in-mesorhizobium-huakuii-7653r
#16
Xie Fuli, Zhao Wenlong, Wang Xiao, Zhang Jing, Hao Baohai, Zou Zhengzheng, Ma Bin-Guang, Li Youguo
In bacteria, small non-coding RNAs (sRNAs) are critical regulators of cellular adaptation to changes in metabolism, physiology, or the external environment. In the last decade, more than 2000 of sRNA families have been reported in the Rfam database and have been shown to exert various regulatory functions in bacterial transcription and translation. However, little is known about sRNAs and their functions in Mesorhizobium. Here, we predicted putative sRNAs in the intergenic regions (IGRs) of M. huakuii 7653R by genome-wide comparisons with four related Mesorhizobial strains...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28943864/evolutionary-engineering-in-chemostat-cultures-for-improved-maltotriose-fermentation-kinetics-in-saccharomyces-pastorianus-lager-brewing-yeast
#17
Anja Brickwedde, Marcel van den Broek, Jan-Maarten A Geertman, Frederico Magalhães, Niels G A Kuijpers, Brian Gibson, Jack T Pronk, Jean-Marc G Daran
The lager brewing yeast Saccharomyces pastorianus, an interspecies hybrid of S. eubayanus and S. cerevisiae, ferments maltotriose, maltose, sucrose, glucose and fructose in wort to ethanol and carbon dioxide. Complete and timely conversion ("attenuation") of maltotriose by industrial S. pastorianus strains is a key requirement for process intensification. This study explores a new evolutionary engineering strategy for improving maltotriose fermentation kinetics. Prolonged carbon-limited, anaerobic chemostat cultivation of the reference strain S...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28943493/the-european-collaborative-project-on-inflammation-and-vascular-wall-remodeling-in-atherosclerosis-intravascular-ultrasound-atheroremo-ivus-study
#18
Sanneke P M de Boer, Yael Baran, Hector M Garcia-Garcia, Itamar Eskin, Mattie Lenzen, Marcus E Kleber, Evelyn Regar, Peter J de Jaegere, Jurgen M Ligthart, Robert Jan van Geuns, Tehro Lehtimäki, Reijo Laaksonen, Eric Boersma, Winfried März, Erin Halperin, Patrick W Serruys, Wolfgang Koenig
AIMS: The European Collaborative Project on Inflammation and Vascular Wall Remodelling in Atherosclerosis - Intravascular Ultrasound (ATHEROREMO-IVUS) study has been designed as an exploratory clinical study to investigate the associations between genetic variation, coronary atherosclerosis phenotypes, and plaque vulnerability as determined by IVUS. METHODS AND RESULTS: The ATHEROREMO-IVUS study is a prospective, observational study of 581 patients with stable angina pectoris or acute coronary syndrome (ACS) who were referred for coronary angiography to the Thoraxcenter, Rotterdam, enriched with 265 IBIS-2 participants (total population, n=846)...
September 26, 2017: EuroIntervention
https://www.readbyqxmd.com/read/28943417/giant-cell-ependymoma-of-the-lateral-ventricle-case-report-literature-review-and-analysis-of-prognostic-factors-and-genetic-profile
#19
Hirokazu Takami, Christopher Graffeo, Avital Perry, Aditya Raghunathan, Robert B Jenkins, Caterina Giannini, Terry C Burns
Giant cell ependymoma (GCE) is a rare primary CNS neoplasm. We report a case of GCE arising in the lateral ventricle. A 22-year-old female presented with generalized seizures. MRI demonstrated a diffuse, non-enhancing, multi-cystic mass centered in the atrium of the right lateral ventricle with extension throughout the frontal and temporal horns. An initial subtotal resection yielded the signature biphasic pattern of GCE. The dominant component contained pleomorphic, bizarre-appearing giant cells with low mitotic index, and a minor component comprised monomorphic, highly cellular, mitotically active cells that formed perivascular pseudorosettes...
September 21, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28943299/interaction-of-quindoline-derivative-with-telomeric-repeat-containing-rna-induces-telomeric-dna-damage-response-in-cancer-cells-through-inhibition-of-telomeric-repeat-factor-2
#20
Yan Zhang, Deying Zeng, Jiaojiao Cao, Mingxue Wang, Bing Shu, Guotao Kuang, Tian-Miao Ou, Jia-Heng Tan, Lian-Quan Gu, Zhi-Shu Huang, Ding Li
BACKGROUND: Telomeric repeat-containing RNA (TERRA) is a large non-coding RNA in mammalian cells, which forms an integral component of telomeric heterochromatin. TERRA can bind to an allosteric site of telomeric repeat factor 2 (TRF2), a key component of Shelterin that protect chromosome termini. Both TERRA and TRF2 have been recognized as promising new therapeutic targets for cancer treatment. METHODS: Our methods include FRET assay, SPR, CD, microscale thermophoresis (MST), enzyme-linked immunosorbent assay (ELISA), chromatin immunoprecipitation (ChIP), colony formation assays, Western blot, immunofluorescence, cell cycle arrest and apoptosis detection, and xCELLigence real-time cell analysis (RTCA)...
September 21, 2017: Biochimica et Biophysica Acta
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