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Skin genomics

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https://www.readbyqxmd.com/read/28530888/genomic-relatedness-of-staphylococcus-pettenkoferi-isolates-of-different-origins
#1
Emeli Månsson, Bengt Hellmark, Marc Stegger, Paal Skytt Andersen, Martin Sundqvist, Bo Söderquist
PURPOSE: The aim of the study was to characterize clinical and environmental Staphylococcus pettenkoferi isolates with regard to genomic diversity and antibiotic susceptibility pattern. Repetitive-sequence-based PCR and core genome phylogenetic analysis of whole-genome sequencing (WGS) data verified the presence of distinct clades comprising closely related S. pettenkoferi isolates from different geographical locations and origins. METHODOLOGY: Phylogenetic relationships between 25 S...
May 2017: Journal of Medical Microbiology
https://www.readbyqxmd.com/read/28526573/transcriptomic-variation-of-locally-infected-skin-of-epinephelus-coioides-reveals-the-mucosal-immune-mechanism-against-cryptocaryon-irritans
#2
Yazhou Hu, Anxing Li, Yang Xu, Biao Jiang, Geling Lu, Xiaochun Luo
Fish skin is the largest immunologically active mucosal organ, providing first-line defense against external pathogens. However, the skin-associated immune mechanisms of fish are still unclear. Cryptocaryon irritans is an obligate ectoparasitic ciliated protozoan that infects almost all marine fish, and is believed to be an excellent pathogen model to study fish mucosal immunity. In this study, a de novo transcriptome assembly of Epinephelus coioides skin post C. irritans tail-infection was performed for the first time using the Illumina HiSeq™ 2500 system...
May 16, 2017: Fish & Shellfish Immunology
https://www.readbyqxmd.com/read/28526240/endocrine-actions-of-vitamin-d-in-skin-relevance-for-photocarcinogenesis-of-non-melanoma-skin-cancer-and-beyond
#3
REVIEW
Jörg Reichrath, Roman Saternus, Thomas Vogt
The skin represents a pivotal organ for the human body's vitamin D endocrine system, being both the site of ultraviolet (UV)-B-induced vitamin D synthesis and a target tissue for the pluripotent effects of 1,25(OH)2D3 and other biologically active vitamin D metabolites. As many other steroid hormones, 1,25(OH)2D3 exerts its effects via two independent signal transduction pathways: the classical genomic and the non-genomic pathway. While non-genomic effects of 1,25(OH)2D3 are in part exerted via effects on intracellular calcium, genomic effects are mediated by the vitamin D receptor (VDR)...
May 16, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28521875/exome-sequencing-reveals-a-de-novo-pold1-mutation-causing-phenotypic-variability-in-mandibular-hypoplasia-deafness-progeroid-features-and-lipodystrophy-syndrome-mdpl
#4
Sahar Elouej, Ana Beleza-Meireles, Richard Caswell, Kevin Colclough, Sian Ellard, Jean Pierre Desvignes, Christophe Béroud, Nicolas Lévy, Shehla Mohammed, Annachiara De Sandre-Giovannoli
BACKGROUND: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) is an autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, a characteristic facial appearance and metabolic abnormalities. This syndrome is caused by heterozygous de novo mutations in the POLD1 gene. To date, 19 patients with MDPL have been reported in the literature and among them 14 patients have been characterized at the molecular level. Twelve unrelated patients carried a recurrent in-frame deletion of a single codon (p...
June 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/28520869/comparative-pathogenomic-characterization-of-a-non-invasive-serotype-m71-strain-streptococcus-pyogenes-ns53-reveals-incongruent-phenotypic-implications-from-distinct-genotypic-markers
#5
Yun-Juan Bao, Yang Li, Zhong Liang, Garima Agrahari, Shaun W Lee, Victoria A Ploplis, Francis J Castellino
The strains serotyped as M71 from group A Streptococcus are common causes of pharyngeal and skin diseases worldwide. Here we characterize the genome of a unique non-invasive M71 human isolate, NS53. The genome does not contain structural rearrangements or large-scale gene gains/losses, but encodes a full set of non-truncated known virulence factors, thus providing an ideal reference for comparative studies. However, the NS53 genome showed incongruent phenotypic implications from distinct genotypic markers. NS53 is characterized as an emm pattern D and FCT (fibronectin-collagen-T-antigen) type-3 strain, typical of skin tropic strains, but is phylogenetically close to emm pattern E strains with preference for both skin and pharyngeal infections...
May 17, 2017: Pathogens and Disease
https://www.readbyqxmd.com/read/28515902/sites-of-colonization-in-hospitalized-patients-with-infections-caused-by-extended-spectrum-beta-lactamase-organisms-a-prospective-cohort-study
#6
Zeina A Kanafani, Sukayna M Fadlallah, Sarah Assaf, Khalil Anouti, Kohar Annie B Kissoyan, Jad Sfeir, Tamara Nawar, Mohamad Yasmin, Ghassan M Matar
BACKGROUND: The objective of this study was to determine whether patients infected with extended-spectrum beta-lactamase (ESBL)-producing organisms are colonized at multiple body sites. METHODS: This was a prospective cohort study at a tertiary care center in Beirut, Lebanon. Hospitalized patients with infections caused by ESBL-producing organisms were included. Cultures were obtained from the primary site of infection as well as from other sites (skin, nasopharynx, urine, rectum)...
2017: Antimicrobial Resistance and Infection Control
https://www.readbyqxmd.com/read/28511379/malassezia-yeast-and-cytokine-gene-polymorphism-in-atopic-dermatitis
#7
Charu Jain, Shukla Das, V G Ramachandran, Rumpa Saha, S N Bhattacharya, Sajad Dar
INTRODUCTION: Atopic Dermatitis (AD) is a recurrent chronic condition associated with microorganism and their interaction with the susceptible host. Malassezia yeast is a known commensal which is thought to provoke the recurrent episodes of symptoms in atopic dermatitis patients. Malassezia immunomodulatory properties along with defective skin barrier in such host, results in disease manifestation. Here, we studied Single Nucleotide Polymorphism (SNP) in IL10 and IFN γ genes of the host and its relation with susceptibility to Malassezia infection...
March 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28508743/mycobacterium-kansasii-isolated-from-tuberculinpositive-rhesus-macaques-macaca-mulatta-in-the-absence-of-disease
#8
Steven T Shipley, David K Johnson, Morteza Roodgar, David Glenn Smith, Charles A Montgomery, Steven M Lloyd, James A Higgins, Edwin H Kriel, Hilton J Klein, William P Porter, Jerome B Nazareno, Paul W Houghton, Aruna Panda, Louis J DeTolla
Mycobacterial infections are of primary health concern in NHP colonies in biomedical research. NHP are constantly monitoredand screened for Mycobacterium spp. We report 6 Chinese-origin rhesus macaques infected with Mycobacterium kansasii thatexhibited positive tuberculin skin tests in the absence of disease. Two of these macaques were being used for research purposes;the remaining 4 macaques were residing at the contract quarantine company. Histopathology and acid-fast staining of fixed tissues from all macaques showed that all were free of disease...
May 15, 2017: Comparative Medicine
https://www.readbyqxmd.com/read/28508516/fell-muir-review-collagen-fibril-formation-in%C3%A2-vitro-and-in%C3%A2-vivo
#9
REVIEW
Karl E Kadler
It is a great honour to be awarded the Fell Muir Prize for 2016 by the British Society of Matrix Biology. As recipient of the prize, I am taking the opportunity to write a minireview on collagen fibrillogenesis, which has been the focus of my research for 33 years. This is the process by which triple helical collagen molecules assemble into centimetre-long fibrils in the extracellular matrix of animals. The fibrils appeared a billion years ago at the dawn of multicellular animal life as the primary scaffold for tissue morphogenesis...
May 16, 2017: International Journal of Experimental Pathology
https://www.readbyqxmd.com/read/28507225/phosphorylation-of-pkp1-by-ripk4-regulates-epidermal-differentiation-and-skin-tumorigenesis
#10
Philbert Lee, Shangwen Jiang, Yuanyuan Li, Jiping Yue, Xuewen Gou, Shao-Yu Chen, Yingming Zhao, Markus Schober, Minjia Tan, Xiaoyang Wu
Tissue homeostasis of skin is sustained by epidermal progenitor cells localized within the basal layer of the skin epithelium. Post-translational modification of the proteome, such as protein phosphorylation, plays a fundamental role in the regulation of stemness and differentiation of somatic stem cells. However, it remains unclear how phosphoproteomic changes occur and contribute to epidermal differentiation. In this study, we survey the epidermal cell differentiation in a systematic manner by combining quantitative phosphoproteomics with mammalian kinome cDNA library screen...
May 15, 2017: EMBO Journal
https://www.readbyqxmd.com/read/28505376/evolutionary-re-wiring-of-p63-and-the-epigenomic-regulatory-landscape-in-keratinocytes-and-its-potential-implications-on-species-specific-gene-expression-and-phenotypes
#11
Isha Sethi, Christian Gluck, Huiqing Zhou, Michael J Buck, Satrajit Sinha
Although epidermal keratinocyte development and differentiation proceeds in similar fashion between humans and mice, evolutionary pressures have also wrought significant species-specific physiological differences. These differences between species could arise in part, by the rewiring of regulatory network due to changes in the global targets of lineage-specific transcriptional master regulators such as p63. Here we have performed a systematic and comparative analysis of the p63 target gene network within the integrated framework of the transcriptomic and epigenomic landscape of mouse and human keratinocytes...
May 13, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28502801/genome-wide-association-reveals-pigmentation-genes-play-a-role-in-skin-aging
#12
Matthew H Law, Sarah E Medland, Gu Zhu, Seyhan Yazar, Ana Viñuela, Leanne Wallace, Sri Niranjan Shekar, David L Duffy, Veronique Bataille, Dan Glass, Tim D Spector, Diane Wood, Scott D Gordon, Julie M Barbour, Anjali K Henders, Alex W Hewitt, Grant W Montgomery, Richard A Sturm, David A Mackey, Adèle C Green, Nicholas G Martin, Stuart MacGregor
Loss of fine skin patterning is a sign of both aging and photoaging. Studies investigating the genetic contribution to skin patterning offer an opportunity to better understand a trait that influences both physical appearance and risk of keratinocyte skin cancer. We undertook a meta-analysis of genome-wide association studies (GWAS) of a measure of skin pattern (microtopography score) damage in 1,671 twin pairs and 1,745 singletons (N = 5,087) drawn from three independent cohorts. We identified that rs185146 near SLC45A2 is associated with a skin aging trait (p = 4...
May 11, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28502108/expression-of-the-filaggrin-gene-in-umbilical-cord-blood-predicts-eczema-risk-in-infancy-a-birth-cohort-study
#13
Ali H Ziyab, Susan Ewart, Gabrielle A Lockett, Hongmei Zhang, Hasan Arshad, John W Holloway, Wilfried Karmaus
BACKGROUND: Filaggrin gene (FLG) expression, particularly in the skin, has been linked to the development of the skin barrier and is associated with eczema risk. However, knowledge as to whether FLG expression in umbilical cord blood (UCB) is associated with eczema development and prediction is lacking. OBJECTIVE: This study sought to assess whether FLG expression in UCB associates with and predicts the development of eczema in infancy. METHODS: Infants enrolled in a birth cohort study (n = 94) were assessed for eczema at ages 3-, 6-, and 12-months...
May 14, 2017: Clinical and Experimental Allergy: Journal of the British Society for Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28499756/genetic-variants-in-wnt2b-and-btrc-predict-melanoma-survival
#14
Qiong Shi, Hongliang Liu, Peng Han, Chunying Li, Yanru Wang, Wenting Wu, Dakai Zhu, Christopher I Amos, Shenying Fang, Jeffrey E Lee, Jiali Han, Qingyi Wei
Cutaneous melanoma (CM) is the most lethal skin cancer. The Wnt pathway has an impact on development, invasion and metastasis of CM, thus likely affecting CM prognosis. Using data from a published genome-wide association study (GWAS) from The University of Texas M.D. Anderson Cancer Center, we assessed the associations of 19,830 common single-nucleotide polymorphisms (SNPs) in 151 Wnt pathway autosomal genes with CM-specific survival (CMSS) and then validated significant SNPs in another GWAS from Harvard University...
May 9, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28497550/metagenomics-analysis-of-red-blood-cell-and-fresh-frozen-plasma-units
#15
Pierre Lau, Samuel Cordey, Francisco Brito, Diderik Tirefort, Thomas J Petty, Lara Turin, Arthur Guichebaron, Mylène Docquier, Evgeny M Zdobnov, Sophie Waldvogel-Abramowski, Thomas Lecompte, Laurent Kaiser, Olivier Preynat-Seauve
BACKGROUND: Although the risk of transmitting infectious agents by blood transfusion is dramatically reduced after donor selection, leukoreduction, and laboratory testing, some could still be present in donor's blood. A description of metagenomes in blood products eligible for transfusion represents relevant information to evaluate the risk of pathogen transmission by transfusion. STUDY DESIGN AND METHODS: Detection of viruses, bacteria, and fungi genomes was made by high-throughput sequencing (HTS) of 600 manufactured blood products eligible for transfusion: 300 red blood cell (RBC) and 300 fresh-frozen plasma (FFP) units...
May 11, 2017: Transfusion
https://www.readbyqxmd.com/read/28494706/ranid-herpesvirus-3-and-proliferative-dermatitis-in-free-ranging-wild-common-frogs-rana-temporaria
#16
F C Origgi, B R Schmidt, P Lohmann, P Otten, E Akdesir, V Gaschen, L Aguilar-Bultet, T Wahli, U Sattler, M H Stoffel
Amphibian pathogens are of current interest as contributors to the global decline of amphibians. However, compared with chytrid fungi and ranaviruses, herpesviruses have received relatively little attention. Two ranid herpesviruses have been described: namely, Ranid herpesvirus 1 (RHV1) and Ranid herpesvirus 2 (RHV2). This article describes the discovery and partial characterization of a novel virus tentatively named Ranid herpesvirus 3 (RHV3), a candidate member of the genus Batrachovirus in the family Alloherpesviridae...
January 1, 2017: Veterinary Pathology
https://www.readbyqxmd.com/read/28493971/nonsense-variant-in-col7a1-causes-recessive-dystrophic-epidermolysis-bullosa-in-central-asian-shepherd-dogs
#17
Julia Niskanen, Kati Dillard, Meharji Arumilli, Elina Salmela, Marjukka Anttila, Hannes Lohi, Marjo K Hytönen
A rare hereditary mechanobullous disorder called epidermolysis bullosa (EB) causes blistering in the skin and the mucosal membranes. To date, nineteen EB-related genes have been discovered in human and other species. We describe here a novel EB variant in dogs. Two newborn littermates of Central Asian Shepherd dogs with severe signs of skin blistering were brought to a veterinary clinic and euthanized due to poor prognosis. In post-mortem examination, the puppies were shown to have findings in the skin and the mucosal membranes characteristic of EB...
2017: PloS One
https://www.readbyqxmd.com/read/28493885/genotypic-and-phenotypic-diversity-of-lactobacillus-rhamnosus-clinical-isolates-their-comparison-with-strain-gg-and-their-recognition-by-complement-system
#18
Eija Nissilä, François P Douillard, Jarmo Ritari, Lars Paulin, Hanna M Järvinen, Pia Rasinkangas, Karita Haapasalo, Seppo Meri, Hanna Jarva, Willem M de Vos
Lactobacillus rhamnosus strains are ubiquitous in fermented foods, and in the human body where they are commensals naturally present in the normal microbiota composition of gut, vagina and skin. However, in some cases, Lactobacillus spp. have been implicated in bacteremia. The aim of the study was to examine the genomic and immunological properties of 16 clinical blood isolates of L. rhamnosus and to compare them to the well-studied L. rhamnosus probiotic strain GG. Blood cultures from bacteremic patients were collected at the Helsinki University Hospital laboratory in 2005-2011 and L...
2017: PloS One
https://www.readbyqxmd.com/read/28493546/palmar-plantar-erythrodysesthesia-syndrome-following-treatment-with-high-dose-methotrexate-or-high-dose-cytarabine
#19
Seth E Karol, Wenjian Yang, Colton Smith, Cheng Cheng, Clinton F Stewart, Sharyn D Baker, John T Sandlund, Jeffrey E Rubnitz, Michael W Bishop, Alberto S Pappo, Sima Jeha, Ching-Hon Pui, Mary V Relling
BACKGROUND: Palmar-plantar erythrodysesthesia syndrome (PPES) is an uncommon side effect of high-dose cytarabine or methotrexate. Prior case reports of PPES have been limited, and the predisposing factors for the development of PPES remain unknown. METHODS: A review of databases identified 22 patients (1.3%) who developed 39 episodes of PPES among 1720 patients after treatment with high-dose cytarabine or methotrexate. RESULTS: Symptoms lasted a mean of 6...
May 11, 2017: Cancer
https://www.readbyqxmd.com/read/28490597/molluscum-contagiosum-virus-protein-mc005-inhibits-nf%C3%AE%C2%BAb-activation-by-targeting-nemo-regulated-ikk-activation
#20
Gareth Brady, Darya A Haas, Paul J Farrell, Andreas Pichlmair, Andrew G Bowie
Molluscum Contagiosum Virus (MCV), the only known extant, human-adapted poxvirus, causes a long-duration infection characterized by skin lesions that typically display an absence of inflammation despite containing high titres of live virus. Despite this curious presentation, MCV is very poorly characterized in terms of host-pathogen interactions. The absence of inflammation around MCV lesions suggests the presence of potent inhibitors of human anti-viral immunity and inflammation. However, only a small number of MCV immunomodulatory genes have been characterized in detail...
May 10, 2017: Journal of Virology
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