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https://www.readbyqxmd.com/read/29791050/a-novel-clcn5-pathogenic-mutation-supports-dent-disease-with-normal-endosomal-acidification
#1
Yohan Bignon, Alexi Alekov, Nadia Frachon, Olivier Lahuna, Carine Jean-Baptiste Doh-Egueli, Georges Deschênes, Rosa Vargas-Poussou, Stéphane Lourdel
Dent disease in an X-linked recessive renal tubular disorder characterized by low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis and progressive renal failure. Inactivating mutations of CLCN5, the gene encoding the 2Cl- /H+ exchanger ClC-5 have been reported in patients with Dent disease 1. In vivo studies in mice harboring an artificial mutation in the "gating glutamate" of ClC-5 (c.632A > C, p.Glu211Ala) and mathematical modeling suggest that endosomal chloride concentration could be an important parameter in endocytosis, rather than acidification as earlier hypothesized...
May 23, 2018: Human Mutation
https://www.readbyqxmd.com/read/29785025/an-immune-beige-adipocyte-communication-via-nicotinic-acetylcholine-receptor-signaling
#2
Heejin Jun, Hui Yu, Jianke Gong, Juan Jiang, Xiaona Qiao, Eric Perkey, Dong-Il Kim, Margo P Emont, Alexander G Zestos, Jung-Sun Cho, Jianfeng Liu, Robert T Kennedy, Ivan Maillard, X Z Shawn Xu, Jun Wu
Beige adipocytes have recently been shown to regulate energy dissipation when activated and help organisms defend against hypothermia and obesity. Prior reports indicate that beige-like adipocytes exist in adult humans and that they may present novel opportunities to curb the global epidemic in obesity and metabolic illnesses. In an effort to identify unique features of activated beige adipocytes, we found that expression of the cholinergic receptor nicotinic alpha 2 subunit (Chrna2) was induced in subcutaneous fat during the activation of these cells and that acetylcholine-producing immune cells within this tissue regulated this signaling pathway via paracrine mechanisms...
May 21, 2018: Nature Medicine
https://www.readbyqxmd.com/read/29784772/a-heterochromatin-domain-forms-gradually-at-a-new-telomere-and-is-dynamic-at-stable-telomeres
#3
Jinyu Wang, Jessica R Eisenstatt, Julien Audry, Kristen Cornelius, Matthew Shaughnessy, Kathleen L Berkner, Kurt W Runge
Heterochromatin domains play important roles in chromosome biology, organismal development and aging, including centromere function, mammalian female X-chromosome inactivation and senescence-associated heterochromatin foci. In the fission yeast Schizosaccharomyces pombe and metazoans, heterochromatin contains histone H3 that is dimethylated at lysine 9. While factors required for heterochromatin have been identified, the dynamics of heterochromatin formation are poorly understood. Telomeres convert adjacent chromatin into heterochromatin...
May 21, 2018: Molecular and Cellular Biology
https://www.readbyqxmd.com/read/29773953/mir-34a-mediated-regulation-of-xist-in-female-cells-under-inflammation
#4
Botros B Shenoda, Yuzhen Tian, Guillermo M Alexander, Enrique Aradillas-Lopez, Robert J Schwartzman, Seena K Ajit
Background: Evidence is overwhelming for sex differences in pain, with women representing the majority of the chronic pain patient population. There is a need to explore novel avenues to elucidate this sex bias in the development of chronic inflammatory pain conditions. Complex regional pain syndrome (CRPS) is a chronic neuropathic pain disorder, and the incidence of CRPS is greater in women than in men by ~4:1. Since neurogenic inflammation is a key feature of CRPS, dysregulation of inflammatory responses can be a factor in predisposing women to chronic pain...
2018: Journal of Pain Research
https://www.readbyqxmd.com/read/29769284/dynamic-copy-number-evolution-of-x-and-y-linked-ampliconic-genes-in-human-populations
#5
Elise A Lucotte, Laurits Skov, Jacob Malte Jensen, Moisès Coll Macià, Kasper Munch, Mikkel H Schierup
Ampliconic genes are multicopy, in majority found on sex-chromosomes and enriched for testis-expressed genes. While ampliconic genes have been associated with the emergence of hybrid incompatibilities, we know little about their copy number distribution and their turnover in human populations. Here we explore the evolution of human X- and Y-linked ampliconic genes by investigating copy number variation (CNV) and coding variation between populations using the Simons Genome Diversity Project. We develop a method to assess CNVs using the read-depth on modified X and Y chromosome targets containing only one repetition of each ampliconic gene...
May 16, 2018: Genetics
https://www.readbyqxmd.com/read/29763708/pcdh19-regulation-of-neural-progenitor-cell-differentiation-suggests-asynchrony-of-neurogenesis-as-a-mechanism-contributing-to-pcdh19-girls-clustering-epilepsy
#6
Claire C Homan, Stephen Pederson, Thu-Hien To, Chuan Tan, Sandra Piltz, Mark Corbett, Ernst Wolvetang, Paul Thomas, Lachlan A Jolly, Jozef Gecz
PCDH19-Girls Clustering Epilepsy (PCDH19-GCE) is a childhood epileptic encephalopathy characterised by a spectrum of neurodevelopmental problems. PCDH19-GCE is caused by heterozygous loss-of-function mutations in the X-chromosome gene, Protocadherin 19 (PCDH19) encoding a cell-cell adhesion molecule. Intriguingly, hemizygous males are generally unaffected. As PCDH19 is subjected to random X-inactivation, heterozygous females are comprised of a mosaic of cells expressing either the normal or mutant allele, which is thought to drive pathology...
May 12, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29762620/m-x-p-m-co-ni-carbon-core-shell-nanoparticles-embedded-in-3d-cross-linked-graphene-aerogel-derived-from-seaweed-biomass-for-hydrogen-evolution-reaction
#7
Wentong Zhao, Xiaoqing Lu, Manickam Selvaraj, Wei Wei, Zhifeng Jiang, Nabi Ullah, Jie Liu, Jimin Xie
Low-cost electrocatalysts play an important role in the hydrogen evolution reaction (HER). Particularly, transition metal phosphides (TMPs) are widely applied in the development of HER electrocatalysts. To improve the poor electrochemical reaction kinetics of HER, we introduce a facile way to synthesize carbon core-shell materials containing cobalt phosphide nanoparticles embedded in different graphene aerogels (GAs) (CoP@C-NPs/GA-x (x = 5, 10 and 20)) using seaweed biomass as precursors. The synthesized CoP@C-NPs/GA-5 exhibits efficient catalytic activity with small overpotentials of 120 and 225 mV at current densities of 10 mA cm-2, along with the low Tafel slopes of 57 and 66 mV dec-1, for HER in acidic and alkaline electrolytes, respectively...
May 15, 2018: Nanoscale
https://www.readbyqxmd.com/read/29756331/mammalian-x-chromosome-dosage-compensation-perspectives-from-the-germ-line
#8
REVIEW
Mahesh N Sangrithi, James M A Turner
Sex chromosomes are advantageous to mammals, allowing them to adopt a genetic rather than environmental sex determination system. However, sex chromosome evolution also carries a burden, because it results in an imbalance in gene dosage between females (XX) and males (XY). This imbalance is resolved by X dosage compensation, which comprises both X chromosome inactivation and X chromosome upregulation. X dosage compensation has been well characterized in the soma, but not in the germ line. Germ cells face a special challenge, because genome wide reprogramming erases epigenetic marks responsible for maintaining the X dosage compensated state...
May 14, 2018: BioEssays: News and Reviews in Molecular, Cellular and Developmental Biology
https://www.readbyqxmd.com/read/29752433/palmitic-acid-but-not-high-glucose-induced-myocardial-apoptosis-is-alleviated-by-n%C3%A2-acetylcysteine-due-to-attenuated-mitochondrial-derived-ros-accumulation-induced-endoplasmic-reticulum-stress
#9
Yang He, Lingyun Zhou, Zhiqiang Fan, Shikun Liu, Weijin Fang
Pharmacological inhibition of reactive oxygen species (ROS) is a potential strategy to prevent diabetes-induced cardiac dysfunction. This study was designed to investigate precise effects of antioxidant N‑acetylcysteine (NAC) in alleviating diabetic cardiomyopathy (DCM). Echocardiography and histologic studies were performed 12 weeks after streptozocin injection. Protein levels involved in endoplasmic reticulum stress (ERS) and apoptosis were analyzed by western blotting in diabetic hearts or high-glucose (HG, 30 mM)- and palmitic acid (PA, 300 μM)-cultured neonatal rat cardiomyocytes (NRCMs)...
May 11, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29748133/retinoic-acid-inhibits-neuronal-voltage-gated-calcium-channels
#10
Eric de Hoog, Mark K Lukewich, Gaynor E Spencer
Retinoic acid is the active metabolite of vitamin A and regulates several important cellular processes by activating retinoic acid receptors (RAR) and retinoid X receptors (RXR). These receptors generally act as transcription factors, though non-genomic actions of both retinoic acid and the receptors have also been reported. One such nongenomic effect includes the modulation of Ca2+ levels during homeostatic synaptic plasticity in the hippocampus. Retinoic acid can thus affect Ca2+ signaling and can potentially control both synaptic plasticity and neuronal firing...
February 13, 2018: Cell Calcium
https://www.readbyqxmd.com/read/29747696/oxidative-modifications-of-foetal-ldl-c-and-hdl-c-lipoproteins-in-preeclampsia
#11
G León-Reyes, S Espino Y Sosa, R Medina-Navarro, A M Guzmán-Grenfell, A X Medina-Urrutia, S Fuentes-García, G J J Hicks, Y D Torres-Ramos
BACKGROUND: Oxidative modifications have been observed in lipids and proteins in lipoproteins isolated from women with preeclampsia. Thus, newborns could also be susceptible to this damage directly through their mothers. In this study, we evaluated the oxidative profile of LDL-c and HDL-c lipoproteins isolated from the umbilical cord from newborns born to women with preeclampsia. METHODS: Thirty newborns born to women with preeclampsia and thirty newborns born to women with healthy pregnancies were included...
May 10, 2018: Lipids in Health and Disease
https://www.readbyqxmd.com/read/29747568/classical-fragile-x-phenotype-in-a-female-infant-disclosed-by-comprehensive-genomic-studies
#12
Paula Jorge, Elsa Garcia, Ana Gonçalves, Isabel Marques, Nuno Maia, Bárbara Rodrigues, Helena Santos, Jacinta Fonseca, Gabriela Soares, Cecília Correia, Margarida Reis-Lima, Vincenzo Cirigliano, Rosário Santos
BACKGROUND: We describe a female infant with Fragile-X syndrome, with a fully expanded FMR1 allele and preferential inactivation of the homologous X-chromosome carrying a de novo deletion. This unusual and rare case demonstrates the importance of a detailed genomic approach, the absence of which could be misguiding, and calls for reflection on the current clinical and diagnostic workup for developmental disabilities. CASE PRESENTATION: We present a female infant, referred for genetic testing due to psychomotor developmental delay without specific dysmorphic features or relevant family history...
May 10, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29742418/rnf12-x-linked-intellectual-disability-mutations-disrupt-e3-ligase-activity-and-neural-differentiation
#13
Francisco Bustos, Anna Segarra-Fas, Viduth K Chaugule, Lennart Brandenburg, Emma Branigan, Rachel Toth, Thomas Macartney, Axel Knebel, Ronald T Hay, Helen Walden, Greg M Findlay
X-linked intellectual disability (XLID) is a heterogeneous syndrome affecting mainly males. Human genetics has identified >100 XLID genes, although the molecular and developmental mechanisms underpinning this disorder remain unclear. Here, we employ an embryonic stem cell model to explore developmental functions of a recently identified XLID gene, the RNF12/RLIM E3 ubiquitin ligase. We show that RNF12 catalytic activity is required for proper stem cell maintenance and neural differentiation, and this is disrupted by patient-associated XLID mutation...
May 8, 2018: Cell Reports
https://www.readbyqxmd.com/read/29734782/design-synthesis-and-in-vitro-evaluation-of-novel-histone-h3-peptide-based-lsd1-inactivators-incorporating-%C3%AE-%C3%AE-disubstituted-amino-acids-with-%C3%AE-turn-inducing-structures
#14
Yosuke Ota, Taeko Kakizawa, Yukihiro Itoh, Takayoshi Suzuki
Lysine-specific demethylase 1 (LSD1) mainly removes methyl groups of mono- or di-methylated lysine residues at the fourth position of histone H3 to epigenetically regulate the expression of genes associated with several diseases, such as cancer. Therefore, LSD1 inactivators are expected to be used as therapeutic agents. In this study, to identify novel peptide-based LSD1 inactivators, we focused on the X-ray structure of LSD1 complexed with a H3 peptide-based suicide substrate. It has been proposed that a methylated histone substrate forms three consecutive γ-turn structures in the active pocket of LSD1...
May 6, 2018: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/29733970/thyroxine-binding-globulin-deficiency-due-to-a-novel-serpina7-mutation-clinical-characterization-analysis-of-x-chromosome-inactivation-pattern-and-protein-structural-modeling
#15
Cristiane Jeyce Gomes Lima, Andressa Aby Faraj Linhares Maciel, Matheus de Oliveira Andrade, Vinicius Santos da Cunha, Juliana Forte Mazzeu, Lucas Bleicher, Francisco de Assis Rocha Neves, Adriana Lofrano-Porto
OBJECTIVE: Thyroxine-binding globulin (TBG) is the major human thyroid hormone transport protein, encoded by the SERPINA7 gene (Xq22.2). We aim to investigate the molecular basis of partial TBG deficiency (TBG-PD) in a female, by evaluating the X-chromosome inactivation pattern as well as the mutant protein structural modeling. DESIGN AND METHODS: Sequencing of the coding region of the SERPINA7 gene was performed in a female with a TBG-PD phenotype and her first-degree relatives...
May 4, 2018: Gene
https://www.readbyqxmd.com/read/29729430/functional-genetics-of-early-human-development
#16
REVIEW
Nicolás M Ortega, Nerges Winblad, Alvaro Plaza Reyes, Fredrik Lanner
Understanding the genetic underpinning of early human development is of great interest not only for basic developmental and stem cell biology but also for regenerative medicine, infertility treatments, and better understanding the causes of congenital disease. Our current knowledge has mainly been generated with the use of laboratory animals, especially the mouse. While human and mouse early development present morphological resemblance, we know that the timing of the events as well as the cellular and genetic mechanisms that control fundamental processes are distinct between the species...
May 2, 2018: Current Opinion in Genetics & Development
https://www.readbyqxmd.com/read/29728705/pathogenic-variants-in-e3-ubiquitin-ligase-rlim-rnf12-lead-to-a-syndromic-x-linked-intellectual-disability-and-behavior-disorder
#17
Suzanna G M Frints, Aysegul Ozanturk, Germán Rodríguez Criado, Ute Grasshoff, Bas de Hoon, Michael Field, Sylvie Manouvrier-Hanu, Scott E Hickey, Molka Kammoun, Karen W Gripp, Claudia Bauer, Christopher Schroeder, Annick Toutain, Theresa Mihalic Mosher, Benjamin J Kelly, Peter White, Andreas Dufke, Eveline Rentmeester, Sungjin Moon, Daniel C Koboldt, Kees E P van Roozendaal, Hao Hu, Stefan A Haas, Hans-Hilger Ropers, Lucinda Murray, Eric Haan, Marie Shaw, Renee Carroll, Kathryn Friend, Jan Liebelt, Lynne Hobson, Marjan De Rademaeker, Joep Geraedts, Jean-Pierre Fryns, Joris Vermeesch, Martine Raynaud, Olaf Riess, Joost Gribnau, Nicholas Katsanis, Koen Devriendt, Peter Bauer, Jozef Gecz, Christelle Golzio, Cristina Gontan, Vera M Kalscheuer
RLIM, also known as RNF12, is an X-linked E3 ubiquitin ligase acting as a negative regulator of LIM-domain containing transcription factors and participates in X-chromosome inactivation (XCI) in mice. We report the genetic and clinical findings of 84 individuals from nine unrelated families, eight of whom who have pathogenic variants in RLIM (RING finger LIM domain-interacting protein). A total of 40 affected males have X-linked intellectual disability (XLID) and variable behavioral anomalies with or without congenital malformations...
May 4, 2018: Molecular Psychiatry
https://www.readbyqxmd.com/read/29727695/clonality-analysis-of-multifocal-ipsilateral-breast-carcinomas-using-x-chromosome-inactivation-patterns
#18
Hayeon Kim, Chung-Yeul Kim, Kyong Hwa Park, Aeree Kim
The definition of multifocal breast cancer is ambiguous, and its incidence varies depending on the definition and detection methods. Multifocal breast cancers either have the same clonal origin or arise from completely distinct progenitor cells. The current American Joint Committee on Cancer Staging system and College of American Pathologists breast tumor guidelines state that only the largest tumor needs to be staged and studied immunohistochemically, on the assumption that they are of the same origin. However, some multifocal tumors have been proven to have arisen from different clones...
May 1, 2018: Human Pathology
https://www.readbyqxmd.com/read/29723955/the-methylome-of-vertebrate-sex-chromosomes
#19
REVIEW
Shafagh A Waters, Alexander Capraro, Kim L McIntyre, Jennifer A Marshall Graves, Paul D Waters
DNA methylation is a key epigenetic modification in vertebrate genomes known to be involved in the regulation of gene expression, X chromosome inactivation, genomic imprinting, chromatin structure, and control of transposable elements. DNA methylation is common to all eukaryote genomes, but we still lack a complete understanding of the variation in DNA methylation patterns on sex chromosomes and between the sexes in diverse species. To better understand sex chromosome DNA methylation patterns between different amniote vertebrates, we review literature that has analyzed the genome-wide distribution of DNA methylation in mammals and birds...
May 1, 2018: Genes
https://www.readbyqxmd.com/read/29720491/rapid-immune-reconstitution-of-scid-x1-canines-after-g-csf-amd3100-mobilization-and-in-vivo-gene-therapy
#20
Olivier Humbert, Frieda Chan, Yogendra S Rajawat, Troy R Torgerson, Christopher R Burtner, Nicholas W Hubbard, Daniel Humphrys, Zachary K Norgaard, Patricia O'Donnell, Jennifer E Adair, Grant D Trobridge, Andrew M Scharenberg, Peter J Felsburg, David J Rawlings, Hans-Peter Kiem
Hematopoietic stem-cell gene therapy is a promising treatment of X-linked severe combined immunodeficiency disease (SCID-X1), but currently, it requires recipient conditioning, extensive cell manipulation, and sophisticated facilities. With these limitations in mind, we explored a simpler therapeutic approach to SCID-X1 treatment by direct IV administration of foamy virus (FV) vectors in the canine model. FV vectors were used because they have a favorable integration site profile and are resistant to serum inactivation...
May 8, 2018: Blood Advances
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