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https://www.readbyqxmd.com/read/29156529/alpinetin-improved-high-fat-diet-induced-non-alcoholic-fatty-liver-disease-nafld-through-improving-oxidative-stress-inflammatory-response-and-lipid-metabolism
#1
Yong Zhou, Yin-Lu Ding, Jian-Liang Zhang, Peng Zhang, Jin-Qing Wang, Zhao-Hua Li
The non-alcoholic fatty liver disease (NAFLD) has become a serious medical problem and an increasing threat to public health. It is characterized by the abnormal fat accumulation in liver without excessive alcohol intake. The concurrent NAFLD might up-regulate the risk of chronic kidney disease as well as the mortality rate. Though various drugs have been investigated to attenuate NAFLD, further study is still necessary to find new therapeutic strategy and to reveal the underlying molecular mechanism. In the present study, NAFLD animal models were induced by feeding with high fat (HF) diet for 8 weeks...
November 15, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/29152164/mutations-in-rab39b-in-individuals-with-intellectual-disability-autism-spectrum-disorder-and-macrocephaly
#2
Marc Woodbury-Smith, Eric Deneault, Ryan K C Yuen, Susan Walker, Mehdi Zarrei, Giovanna Pellecchia, Jennifer L Howe, Ny Hoang, Mohammed Uddin, Christian R Marshall, Christina Chrysler, Ann Thompson, Peter Szatmari, Stephen W Scherer
Background: Autism spectrum disorder (ASD), a developmental disorder of early childhood onset, affects males four times more frequently than females, suggesting a role for the sex chromosomes. In this study, we describe a family with ASD in which a predicted pathogenic nonsense mutation in the X-chromosome gene RAB39B segregates with ASD phenotype. Methods: Clinical phenotyping, microarray, and whole genome sequencing (WGS) were performed on the five members of this family...
2017: Molecular Autism
https://www.readbyqxmd.com/read/29151149/impact-of-xist-rna-on-chromatin-modifications-and-transcriptional-silencing-maintenance-at-different-stages-of-imprinted-x-chromosome-inactivation-in-vole-microtus-levis
#3
Alexander I Shevchenko, Elena V Grigor'eva, Sergey P Medvedev, Irina S Zakharova, Elena V Dementyeva, Eugeny A Elisaphenko, Anastasia A Malakhova, Sophia V Pavlova, Suren M Zakian
In vole Microtus levis, cells of preimplantation embryo and extraembryonic tissues undergo imprinted X chromosome inactivation (iXCI) which is triggered by a long non-coding nuclear RNA, Xist. At early stages of iXCI, chromatin of vole inactive X chromosome is enriched with the HP1 heterochromatin-specific protein, trimethylated H3K9 and H4K20 attributable to constitutive heterochromatin. In the study, using vole trophoblast stem (TS) cells as a model of iXCI, we further investigated chromatin of the inactive X chromosome of M...
November 18, 2017: Chromosoma
https://www.readbyqxmd.com/read/29150672/fmnh2-dependent-monooxygenases-initiate-catabolism-of-sulfonamides-in-microbacterium-sp-strain-br1-subsisting-on-sulfonamide-antibiotics
#4
Benjamin Ricken, Boris A Kolvenbach, Christian Bergesch, Dirk Benndorf, Kevin Kroll, Hynek Strnad, Čestmír Vlček, Ricardo Adaixo, Frederik Hammes, Patrick Shahgaldian, Andreas Schäffer, Hans-Peter E Kohler, Philippe F-X Corvini
We report a cluster of genes encoding two monooxygenases (SadA and SadB) and one FMN reductase (SadC) that enable Microbacterium sp. strain BR1 and other Actinomycetes to inactivate sulfonamide antibiotics. Our results show that SadA and SadC are responsible for the initial attack of sulfonamide molecules resulting in the release of 4-aminophenol. The latter is further transformed into 1,2,4-trihydroxybenzene by SadB and SadC prior to mineralization and concomitant production of biomass. As the degradation products lack antibiotic activity, the presence of SadA will result in an alleviated bacteriostatic effect of sulfonamides...
November 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29146702/prevalence-of-novel-maged2-mutations-in-antenatal-bartter-syndrome
#5
Anne Legrand, Cyrielle Treard, Isabelle Roncelin, Sophie Dreux, Aurélia Bertholet-Thomas, Françoise Broux, Daniele Bruno, Stéphane Decramer, Georges Deschenes, Djamal Djeddi, Vincent Guigonis, Nadine Jay, Tackwa Khalifeh, Brigitte Llanas, Denis Morin, Gilles Morin, François Nobili, Christine Pietrement, Amélie Ryckewaert, Rémi Salomon, Isabelle Vrillon, Anne Blanchard, Rosa Vargas-Poussou
BACKGROUND AND OBJECTIVES: Mutations in the MAGED2 gene, located on the X chromosome, have been recently detected in males with a transient form of antenatal Bartter syndrome or with idiopathic polyhydramnios. The aim of this study is to analyze the proportion of the population with mutations in this gene in a French cohort of patients with antenatal Bartter syndrome. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: The French cohort of patients with antenatal Bartter syndrome encompasses 171 families...
November 16, 2017: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/29146485/in-frame-variants-in-flna-proximal-rod-1-domain-associate-with-a-predominant-cardiac-valvular-phenotype
#6
Luis Fernández, Jair Tenorio, Coral Polo-Vaquero, Elena Vallespín, María Palomares-Bralo, Sixto García-Miñaúr, Fernando Santos-Simarro, Pedro Arias, Hernán Carnicer, Silvina Giannivelli, Juan Medina, Rosa Pérez-Piaya, Jorge Solís, Mónica Rodríguez, Alexandra Villagrá, Laura Rodríguez, Julián Nevado, Víctor Martínez-Glez, Karen E Heath, Pablo Lapunzina
INTRODUCTION AND OBJECTIVES: X-linked cardiac valvular dysplasia is a rare form of male-specific congenital heart defect mainly characterized by myxomatous degeneration of the atrioventricular valves with variable hemodynamic consequences. It is caused by genetic defects in FLNA-encoded filamin A, a widely expressed actin-binding protein that regulates cytoskeleton organization. Filamin A loss of function has also been associated with often concurring neurologic and connective tissue manifestations, with mutations in the first half of the Rod 1 domain apparently expressing the full cardiac phenotype...
November 13, 2017: Revista Española de Cardiología
https://www.readbyqxmd.com/read/29142209/fbxo4-mediated-degradation-of-fxr1-suppresses-tumorigenesis-in-head-and-neck-squamous-cell-carcinoma
#7
Shuo Qie, Mrinmoyee Majumder, Katarzyna Mackiewicz, Breege V Howley, Yuri K Peterson, Philip H Howe, Viswanathan Palanisamy, J Alan Diehl
The Fbxo4 tumour suppressor is a component of an Skp1-Cul1-F-box E3 ligase for which two substrates are known. Here we show purification of SCF(Fbxo4) complexes results in the identification of fragile X protein family (FMRP, Fxr1 and Fxr2) as binding partners. Biochemical and functional analyses reveal that Fxr1 is a direct substrate of SCF(Fbxo4). Consistent with a substrate relationship, Fxr1 is overexpressed in Fbxo4 knockout cells, tissues and in human cancer cells, harbouring inactivating Fbxo4 mutations...
November 16, 2017: Nature Communications
https://www.readbyqxmd.com/read/29141583/clinical-and-molecular-genetic-characterization-of-familial-mecp2-duplication-syndrome-in-a-chinese-family
#8
Xiaoyan Li, Hua Xie, Qian Chen, Xiongying Yu, Zhaoshi Yi, Erzhen Li, Ting Zhang, Jian Wang, Jianmin Zhong, Xiaoli Chen
BACKGROUND: Chromosomal duplication at the Xq28 region including the MECP2 gene, share consistent clinical phenotypes and a distinct facial phenotype known as MECP2 duplication syndrome. The typical clinical features include infantile hypotonia , mild dysmorphic features, a broad range of neurodevelopmental disorders, recurrent infections, and progressive spasticity. METHODS: This Chinese MECP2 duplication syndrome family includes six patients (five males and one female), and four asymptomatic female carriers...
November 15, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29140308/synergistic-effect-of-fluorinated-and-n-doped-tio%C3%A2-nanoparticles-leading-to-different-microstructure-and-enhanced-photocatalytic-bacterial-inactivation
#9
Irena Milosevic, Amarnath Jayaprakash, Brigitte Greenwood, Birgit van Driel, Sami Rtimi, Paul Bowen
This work focuses on the development of a facile and scalable wet milling method followed by heat treatment to prepare fluorinated and/or N-doped TiO₂ nanopowders with improved photocatalytic properties under visible light. The structural and electronic properties of doped particles were investigated by various techniques. The successful doping of TiO₂ was confirmed by X-ray photoelectron spectroscopy (XPS), and the atoms appeared to be mainly located in interstitial positions for N whereas the fluorination is located at the TiO₂ surface...
November 15, 2017: Nanomaterials
https://www.readbyqxmd.com/read/29139549/elevated-potassium-outward-currents-in-hyperoxia-treated-atrial-cardiomyocytes
#10
Z Vysotskaya, B Chidipi, J L Rodgers, X Tang, E Samal, N Kolliputi, S Mohapatra, E S Bennett, S K Panguluri
Supplementation of 100% oxygen is a very common intervention in intensive care units (ICU) and critical care centers for patients with dysfunctional lung and lung disorders. Although there is advantage in delivering sufficient levels of oxygen, hyperoxia is reported to be directly associated with increasing in-hospital deaths. Our previous studies reported ventricular and electrical remodeling in hyperoxia treated mouse hearts, and in this article, for the first time, we are investigating the effects of hyperoxia on atrial electrophysiology using whole-cell patch-clamp electrophysiology experiments along with assessment of Kv1...
November 15, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/29131265/metformin-reduces-satb2-mediated-osteosarcoma-stem-cell-like-phenotype-and-tumor-growth-via-inhibition-of-n-cadherin-nf-kb-signaling
#11
H Y Xu, W Fang, Z W Huang, J C Lu, Y Q Wang, Q L Tang, G H Song, Y Kang, X J Zhu, C Y Zou, H L Yang, J N Shen, J Wang
OBJECTIVE: To investigate the role of SATB2 in stem cell-like properties of osteosarcoma and identify new strategies to eliminate cancer stem cells of osteosarcoma. MATERIALS AND METHODS: Osteosarcoma cancer stem cells were derived by sarcosphere generation or chemo drug enrichment. SATB2 and pluripotency-associated gene expression in osteosarcoma CSCs were analyzed using qRT-PCR and Western blotting. The sphere formation assay, cell counting kit-8 assay and anti-chemotherapy proteins were used to measure the effects of altered SATB2, N-cadherin expression or metformin treatment in CSCs...
October 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/29128839/enhanced-bacterial-disinfection-by-bi2moo6-agbr-under-visible-light-irradiation
#12
Jialiang Liang, Jun Deng, Fuyang Liu, Mian Li, Meiping Tong
Bi2MoO6-AgBr hybrid photocatalyst was synthesized via a mixed solvothermal-precipitation method. The as-synthesized photocatalysts were well characterized by Powder X-ray diffraction (XRD), X-ray photoelectron spectroscopy (XPS), scanning electron microscopic (SEM) equipped with energy-dispersive X-ray spectroscopy (EDX), high resolution transmission electron microscope (HRTEM), UV-vis diffuse reflectance spectra (DRS), as well as photoluminescence spectra (PL). The visible light driven (VLD) disinfection activity of Bi2MoO6-AgBr was tested using Escherichia coli as the model bacteria...
November 8, 2017: Colloids and Surfaces. B, Biointerfaces
https://www.readbyqxmd.com/read/29119601/an-integrative-approach-to-assess-x-chromosome-inactivation-using-allele-specific-expression-with-applications-to-epithelial-ovarian-cancer
#13
Nicholas B Larson, Zachary C Fogarty, Melissa C Larson, Kimberly R Kalli, Kate Lawrenson, Simon Gayther, Brooke L Fridley, Ellen L Goode, Stacey J Winham
X-chromosome inactivation (XCI) epigenetically silences transcription of an X chromosome in females; patterns of XCI are thought to be aberrant in women's cancers, but are understudied due to statistical challenges. We develop a two-stage statistical framework to assess skewed XCI and evaluate gene-level patterns of XCI for an individual sample by integration of RNA sequence, copy number alteration, and genotype data. Our method relies on allele-specific expression (ASE) to directly measure XCI and does not rely on male samples or paired normal tissue for comparison...
November 8, 2017: Genetic Epidemiology
https://www.readbyqxmd.com/read/29115419/effect-of-%C3%AE-%C3%A2-ecdysterone-on-glucocorticoid%C3%A2-induced-apoptosis-and-autophagy-in-osteoblasts
#14
Yang-Hua Tang, Zhen-Shuang Yue, Guo-Song Li, Lin-Ru Zeng, Da-Wei Xin, Zhong-Qing Hu, Can-Da Xu
The aim of the present study was to investigate the effect of glucocorticoids in osteoblasts and to examine the role of β‑ecdysterone in the pathogenesis of glucocorticoid‑induced osteoporosis. Osteoblasts were induced from bone marrow mesenchymal stem cells, which were isolated from C57BL/6 mice. Cell viability and apoptosis of osteoblasts were measured by Cell Counting Kit‑8 and flow cytometry analysis, respectively. The expression of related genes and proteins was measured by reverse transcription quantitative polymerase chain reaction and western blot analysis respectively...
October 20, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29114363/dual-mechanism-of-chromatin-remodeling-in-the-common-shrew-sex-trivalent-xy-1y-2
#15
Sergey N Matveevsky, Svetlana V Pavlova, Maret M Atsaeva, Jeremy B Searle, Oxana L Kolomiets
Here we focus on the XY1Y2 condition in male common shrew Sorex araneus Linnaeus, 1758, applying electron microscopy and immunocytochemistry for a comprehensive analysis of structure, synapsis and behaviour of the sex trivalent in pachytene spermatocytes. The pachytene sex trivalent consists of three distinct parts: short and long synaptic SC fragments (between the X and Y1 and between the X and Y2, respectively) and a long asynaptic region of the X in-between. Chromatin inactivation was revealed in the XY1 synaptic region, the asynaptic region of the X and a very small asynaptic part of the Y2...
2017: Comparative Cytogenetics
https://www.readbyqxmd.com/read/29114052/dna-damage-response-protein-topbp1-regulates-x-chromosome-silencing-in-the-mammalian-germ-line
#16
Elias ElInati, Helen R Russell, Obah A Ojarikre, Mahesh Sangrithi, Takayuki Hirota, Dirk G de Rooij, Peter J McKinnon, James M A Turner
Meiotic synapsis and recombination between homologs permits the formation of cross-overs that are essential for generating chromosomally balanced sperm and eggs. In mammals, surveillance mechanisms eliminate meiotic cells with defective synapsis, thereby minimizing transmission of aneuploidy. One such surveillance mechanism is meiotic silencing, the inactivation of genes located on asynapsed chromosomes, via ATR-dependent serine-139 phosphorylation of histone H2AFX (γH2AFX). Stimulation of ATR activity requires direct interaction with an ATR activation domain (AAD)-containing partner...
November 7, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29114002/sdf-1%C3%AE-stromal-cell-derived-factor-1%C3%AE-induces-cardiac-fibroblasts-renal-microvascular-smooth-muscle-cells-and-glomerular-mesangial-cells-to-proliferate-cause-hypertrophy-and-produce-collagen
#17
Edwin K Jackson, Yumeng Zhang, Delbert D Gillespie, Xiao Zhu, Dongmei Cheng, Travis C Jackson
BACKGROUND: Activated cardiac fibroblasts (CFs), preglomerular vascular smooth muscle cells (PGVSMCs), and glomerular mesangial cells (GMCs) proliferate, cause hypertrophy, and produce collagen; in this way, activated CFs contribute to cardiac fibrosis, and activated PGVSMCs and GMCs promote renal fibrosis. In heart and kidney diseases, SDF-1α (stromal cell-derived factor 1α; endogenous CXCR4 [C-X-C motif chemokine receptor 4] receptor agonist) levels are often elevated; therefore, it is important to know whether and how the SDF-1α/CXCR4 axis activates CFs, PGVSMCs, or GMCs...
November 7, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29107559/genetic-intersection-of-tsix-and-hedgehog-signaling-during-the-initiation-of-x-chromosome-inactivation
#18
Brian C Del Rosario, Amanda M Del Rosario, Anthony Anselmo, Peggy I Wang, Ruslan I Sadreyev, Jeannie T Lee
X-chromosome inactivation (XCI) silences one X chromosome in the female mammal and is essential to peri-implantation development. XCI is thought to be cell autonomous, with all factors required being produced within each cell. Nevertheless, external cues may exist. Here, we search for such developmental signals by combining bioinformatic, biochemical, and genetic approaches. Using ex vivo and in vivo models, we identify the Hedgehog (HH) paracrine system as a candidate signaling cascade. HH signaling keeps XCI in check in pluripotent cells and is transduced by GLI transcription factors to binding sites in Tsix, the antisense repressor of XCI...
November 6, 2017: Developmental Cell
https://www.readbyqxmd.com/read/29105022/homozygous-dkk1-knockout-mice-exhibit-high-bone-mass-phenotype-due-to-increased-bone-formation
#19
Michelle M McDonald, Alyson Morse, Aaron Schindeler, Kathy Mikulec, Lauren Peacock, Tegan Cheng, Justin Bobyn, Lucinda Lee, Paul A Baldock, Peter I Croucher, Patrick P L Tam, David G Little
Wnt antagonist Dkk1 is a negative regulator of bone formation and Dkk1 (+/-) heterozygous mice display a high bone mass phenotype. Complete loss of Dkk1 function disrupts embryonic head development. Homozygous Dkk1 (-/-) mice that were heterozygous for Wnt3 loss of function mutation (termed Dkk1 KO) are viable and allowed studying the effects of homozygous inactivation of Dkk1 on bone formation. Dkk1 KO mice showed a high bone mass phenotype exceeding that of heterozygous mice as well as a high incidence of polydactyly and kinky tails...
November 6, 2017: Calcified Tissue International
https://www.readbyqxmd.com/read/29101321/contribution-of-epigenetic-landscapes-and-transcription-factors-to-x-chromosome-reactivation-in-the-inner-cell-mass
#20
Maud Borensztein, Ikuhiro Okamoto, Laurène Syx, Guillaume Guilbaud, Christel Picard, Katia Ancelin, Rafael Galupa, Patricia Diabangouaya, Nicolas Servant, Emmanuel Barillot, Azim Surani, Mitinori Saitou, Chong-Jian Chen, Konstantinos Anastassiadis, Edith Heard
X-chromosome inactivation is established during early development. In mice, transcriptional repression of the paternal X-chromosome (Xp) and enrichment in epigenetic marks such as H3K27me3 is achieved by the early blastocyst stage. X-chromosome inactivation is then reversed in the inner cell mass. The mechanisms underlying Xp reactivation remain enigmatic. Using in vivo single-cell approaches (allele-specific RNAseq, nascent RNA-fluorescent in situ hybridization and immunofluorescence), we show here that different genes are reactivated at different stages, with more slowly reactivated genes tending to be enriched in H3meK27...
November 3, 2017: Nature Communications
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