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https://www.readbyqxmd.com/read/29215143/generalized-pustular-psoriasis-in-a-92-year-old-man-with-a-homozygous-nonsense-mutation-in-il36rn
#1
Yoshitaka Ueda, Mayumi Komine, Koji Kamiya, Hidetoshi Tsuda, Takeo Maekawa, Satoru Murata, Mamitaro Ohtsuki
A 92-year-old man developed an erythematous eruption on the trunk and extremities with numerous pustules accompanied by fever. He had never experienced pustular eruption or been diagnosed with psoriasis previously. Skin biopsy revealed Kogoj's spongiform pustule, and he was diagnosed with generalized pustular psoriasis (GPP). Genomic DNA was extracted from his peripheral blood and the sequence of IL36RN gene was analyzed, which revealed a p.Arg10X homozygous mutation. Several cases of elderly-onset GPP have been reported, however, this is the oldest case of GPP...
December 7, 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/29208956/pol%C3%AE-o-glcnacylation-governs-genome-integrity-during-translesion-dna-synthesis
#2
Xiaolu Ma, Hongmei Liu, Jing Li, Yihao Wang, Yue-He Ding, Hongyan Shen, Yeran Yang, Chenyi Sun, Min Huang, Yingfeng Tu, Yang Liu, Yongliang Zhao, Meng-Qiu Dong, Ping Xu, Tie-Shan Tang, Caixia Guo
DNA polymerase η (Polη) facilitates translesion DNA synthesis (TLS) across ultraviolet (UV) irradiation- and cisplatin-induced DNA lesions implicated in skin carcinogenesis and chemoresistant phenotype formation, respectively. However, whether post-translational modifications of Polη are involved in these processes remains largely unknown. Here, we reported that human Polη undergoes O-GlcNAcylation at threonine 457 by O-GlcNAc transferase upon DNA damage. Abrogation of this modification results in a reduced level of CRL4CDT2-dependent Polη polyubiquitination at lysine 462, a delayed p97-dependent removal of Polη from replication forks, and significantly enhanced UV-induced mutagenesis even though Polη focus formation and its efficacy to bypass across cyclobutane pyrimidine dimers after UV irradiation are not affected...
December 5, 2017: Nature Communications
https://www.readbyqxmd.com/read/29207307/systemic-sclerosis-clinical-manifestations-anesthetic-and-orthopedic-considerations-in-a-patient
#3
Obada Hasan, Muneeba Jessar, Muhammad Ashar, Shahryar Noordin, Tashfeen Ahmad
INTRODUCTION: Systemic sclerosis is a rare and progressive multisystem autoimmune disorder that is characterized pathologically by vascular abnormalities, connective tissue sclerosis and atrophy of skin and various internal organs (e.g., alimentary tract, lungs, heart, kidney, CNS), and autoantibodies. With an unknown etiology, Scleroderma is a complex polygenetic disease. A recent Genome Wide Association Study (GWAS) confirmed a strong association with the Major Histocompatibility Complex (MHC) and autoimmunity...
December 2, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29195075/an-unexpectedly-complex-architecture-for-skin-pigmentation-in-africans
#4
Alicia R Martin, Meng Lin, Julie M Granka, Justin W Myrick, Xiaomin Liu, Alexandra Sockell, Elizabeth G Atkinson, Cedric J Werely, Marlo Möller, Manjinder S Sandhu, David M Kingsley, Eileen G Hoal, Xiao Liu, Mark J Daly, Marcus W Feldman, Christopher R Gignoux, Carlos D Bustamante, Brenna M Henn
Approximately 15 genes have been directly associated with skin pigmentation variation in humans, leading to its characterization as a relatively simple trait. However, by assembling a global survey of quantitative skin pigmentation phenotypes, we demonstrate that pigmentation is more complex than previously assumed, with genetic architecture varying by latitude. We investigate polygenicity in the KhoeSan populations indigenous to southern Africa who have considerably lighter skin than equatorial Africans. We demonstrate that skin pigmentation is highly heritable, but known pigmentation loci explain only a small fraction of the variance...
November 30, 2017: Cell
https://www.readbyqxmd.com/read/29194761/development-and-use-of-a-piggybac-based-jumpstarter-system-in-drosophila-suzukii
#5
Fu-Chyun Chu, William Klobasa, Nathaniel Grubbs, Marcé D Lorenzen
Spotted wing drosophila, Drosophila suzukii, is an invasive pest that primarily attacks fresh, soft-skinned fruit. Although others have reported successful integration of marked piggyBac elements into the D. suzukii genome, with a very respectable transgenesis rate of ∼16%, here we take this work a step further by creating D. suzukii jumpstarter strains. These were generated through integration of a fluorescent-marked Minos element carrying a heat shock protein 70-driven piggyBac transposase gene. We demonstrate that there is a dramatic increase in transformation rates when germline transformation is performed in a transposase-expressing background...
December 1, 2017: Archives of Insect Biochemistry and Physiology
https://www.readbyqxmd.com/read/29194095/is-nonmetastatic-cutaneous-melanoma-predictable-through-genomic-biomarkers
#6
Mattia Branca, Samuel Orso, Roberto C Molinari, Haotian Xu, Stéphane Guerrier, Yuming Zhang, Nabil Mili
Cutaneous melanoma is a highly aggressive skin cancer whose treatment and prognosis are critically affected by the presence of metastasis. In this study, we address the following issue: which gene transcripts and what kind of interactions between them can allow to predict nonmetastatic from metastatic melanomas with a high level of accuracy? We carry out a meta-analysis on the first gene expression set of the Leeds melanoma cohort, as made available online on 11 May 2016 through the ArrayExpress platform with MicroArray Gene Expression number 4725...
November 29, 2017: Melanoma Research
https://www.readbyqxmd.com/read/29190285/the-interplay-of-uv-and-cutaneous-papillomavirus-infection-in-skin-cancer-development
#7
Daniel Hasche, Sonja Stephan, Ilona Braspenning-Wesch, Julita Mikulec, Martina Niebler, Hermann-Josef Gröne, Christa Flechtenmacher, Baki Akgül, Frank Rösl, Sabrina E Vinzón
Cutaneous human papillomaviruses (HPVs) are considered as cofactors for non-melanoma skin cancer (NMSC) development, especially in association with UVB. Extensively studied transgenic mouse models failed to mimic all aspects of virus-host interactions starting from primary infection to the appearance of a tumor. Using the natural model Mastomys coucha, which reflects the human situation in many aspects, we provide the first evidence that only UVB and Mastomys natalensis papillomavirus (MnPV) infection strongly promote NMSC formation...
November 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/29188053/ex-vivo-regenerative-effects-of-a-spring-water
#8
Giovanni Nicoletti, Marco Saler, Tommaso Pellegatta, Marco Mario Tresoldi, Viola Bonfanti, Alberto Malovini, Angela Faga, Federica Riva
Previous experiments by our group have indicated the regenerative effects of a spring water (Comano), which was possibly associated with the native non-pathogenic bacterial flora. The present study aimed to confirm these regenerative properties in a human ex vivo experimental model in the context of physiological wound healing. Human 6-mm punch skin biopsies harvested during plastic surgery sessions were injured in their central portion to induce skin loss and were cultured in either conventional medium (controls) or medium powder reconstituted with filtered Comano spring water (treated samples)...
December 2017: Biomedical Reports
https://www.readbyqxmd.com/read/29187845/loss-of-genome-fidelity-beta-hpvs-and-the-dna-damage-response
#9
REVIEW
Sebastian O Wendel, Nicholas A Wallace
While the role of genus alpha human papillomaviruses in the tumorigenesis and tumor maintenance of anogenital and oropharyngeal cancers is well-established, the role of genus beta human papilloviruses (β-HPVs) in non-melanoma skin cancers (NMSCs) is less certain. Persistent β-HPV infections cause NMSCs in sun-exposed skin of people with a rare genetic disorder, epidermodysplasia verruciformis. However, β-HPV infections in people without epidermodysplasia verruciformis are typically transient. Further, β-HPV gene expression is not necessary for tumor maintenance in the general population as on average there is fewer than one copy of the β-HPV genome per cell in NMSC tumor biopsies...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/29184906/parvovirus-b19-in-the-context-of-hematopoietic-stem-cell-transplantation-evaluating-cell-donors-and-recipients
#10
Bianca E Gama, Vanessa E Emmel, Michelle Oliveira-Silva, Luciana M Gutiyama, Leonardo Arcuri, Marta Colares, Rita de Cássia Tavares, Luis F Bouzas, Eliana Abdelhay, Rocio Hassan
Background: Parvovirus B19 (B19V) is a common human pathogen, member of the family Parvoviridae. Typically, B19V has been found to infect erythroid progenitors and cause hematological disorders, such as anemia and aplastic crisis. However, the persistence of genomic deoxyribonucleic acid (DNA) has been demonstrated in tonsils, liver, skin, brain, synovial, and testicular tissues as well as bone marrow, for both symptomatic and asymptomatic subjects. Although the molecular and cellular mechanisms of persistence remain undefined, it raises questions about potential virus transmissibility and its effects in the context of allogeneic hematopoietic stem cell transplantation (allo-HSCT) recipients...
November 2017: Transplantation Direct
https://www.readbyqxmd.com/read/29183283/mitochondrial-genome-sequencing-reveals-potential-origins-of-the-scabies-mite-sarcoptes-scabiei-infesting-two-iconic-australian-marsupials
#11
Tamieka A Fraser, Renfu Shao, Nicholas M Fountain-Jones, Michael Charleston, Alynn Martin, Pam Whiteley, Roz Holme, Scott Carver, Adam Polkinghorne
BACKGROUND: Debilitating skin infestations caused by the mite, Sarcoptes scabiei, have a profound impact on human and animal health globally. In Australia, this impact is evident across different segments of Australian society, with a growing recognition that it can contribute to rapid declines of native Australian marsupials. Cross-host transmission has been suggested to play a significant role in the epidemiology and origin of mite infestations in different species but a chronic lack of genetic resources has made further inferences difficult...
November 28, 2017: BMC Evolutionary Biology
https://www.readbyqxmd.com/read/29180399/diminished-microrna-29b-level-is-associated-with-brd4-mediated-activation-of-oncogenes-in-cutaneous-t-cell-lymphoma
#12
Rebecca Kohnken, Jing Wen, Bethany Mundy-Bosse, Kathleen McConnell, Ashleigh Keiter, Leah Grinshpun, Alex Hartlage, Max Yano, Betina McNeil, Nitin Chakravarti, Basem William, James E Bradner, Michael A Caligiuri, Pierluigi Porcu, Anjali Mishra
MicroRNA dysregulation is a hallmark of cutaneous T-cell lymphoma (CTCL), a uniformly fatal malignancy of skin-homing CD4+ T-cells for which there are few effective therapies. The role of microRNAs (miRs) in controlling epigenetic modifier-dependent transcriptional regulation in CTCL is unknown. In this study, we characterize a novel miR dysregulation contributing to overexpression of epigenetic reader bromodomain-containing protein 4 (BRD4). Using patient CD4+ T-cells, we show diminished levels of miR-29b compared to healthy donor cells...
November 27, 2017: Blood
https://www.readbyqxmd.com/read/29171451/sequence-homology-and-expression-profile-of-genes-associated-with-dna-repair-pathways-in-mycobacterium-leprae
#13
Mukul Sharma, Sundeep Chaitanya Vedithi, Madhusmita Das, Anindya Roy, Mannam Ebenezer
BACKGROUND: Survival of Mycobacterium leprae, the causative bacteria for leprosy, in the human host is dependent to an extent on the ways in which its genome integrity is retained. DNA repair mechanisms protect bacterial DNA from damage induced by various stress factors. The current study is aimed at understanding the sequence and functional annotation of DNA repair genes in M. leprae. METHODS: T he genome of M. leprae was annotated using sequence alignment tools to identify DNA repair genes that have homologs in Mycobacterium tuberculosis and Escherichia coli...
October 2017: International Journal of Mycobacteriology
https://www.readbyqxmd.com/read/29167767/tp53-gene-polymorphisms-and-occupational-skin-cancer-risks-for-workers-of-glass-fiber-manufacture
#14
Guzel F Mukhammadiyeva, Denis O Karimov, Akhat B Bakirov, Liliya K Karimova
Background: Determining the role of genetic markers in individual sensitivity to chemical exposures raises a possibility of risk assessment of occupational diseases and their prevention. This paper focuses on the results of the identification of molecular-genetic markers associated with occupational skin cancer susceptibility. This study aimed to explore an association between polymorphisms of the TP53 tumor suppressor gene and a risk of developing occupational skin neoplasms. Methods: This case-control study was conducted on 71 workers with occupational skin neoplasms, 99 healthy workers, and 100 healthy population-based controls in Bashkortostan Republic, Russia in 2015...
November 2017: Iranian Journal of Public Health
https://www.readbyqxmd.com/read/29160219/complete-sequences-of-4-viral-hemorrhagic-septicemia-virus-ivb-isolates-and-their-virulence-in-northern-pike-fry
#15
Rodman G Getchell, Emily R Cornwell, Steven Bogdanowicz, Jose Andrés, William N Batts, Gael Kurath, Rachel Breyta, Joanna G Choi, John M Farrell, Paul R Bowser
Four viral hemorrhagic septicemia virus (VHSV) genotype IVb isolates were sequenced, their genetic variation explored, and comparative virulence assayed with experimental infections of northern pike Esox lucius fry. In addition to the type strain MI03, the complete 11183 bp genome of the first round goby Neogobius melanostomus isolate from the St. Lawrence River, and the 2013 and 2014 isolates from gizzard shad Dorosoma cepedianum die-offs in Irondequoit Bay, Lake Ontario and Dunkirk Harbor, Lake Erie were all deep sequenced on an Illumina platform...
November 21, 2017: Diseases of Aquatic Organisms
https://www.readbyqxmd.com/read/29160035/mosaic-uniparental-disomy-results-in-gm1-gangliosidosis-with-normal-enzyme-assay
#16
Kenneth A Myers, Mark F Bennett, Chung W Chow, Susan M Carden, Simone A Mandelstam, Melanie Bahlo, Ingrid E Scheffer
Inherited metabolic disorders are traditionally diagnosed using broad and expensive panels of screening tests, often including invasive skin and muscle biopsy. Proponents of next-generation genetic sequencing have argued that replacing these screening panels with whole exome sequencing (WES) would save money. Here, we present a complex patient in whom WES allowed diagnosis of GM1 gangliosidosis, caused by homozygous GLB1 mutations, resulting in β-galactosidase deficiency. A 10-year-old girl had progressive neurologic deterioration, macular cherry-red spot, and cornea verticillata...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29159983/frequency-of-folate-related-polymorphisms-varies-by-skin-pigmentation
#17
Patrice Jones, Mark Lucock, Martin Veysey, Nina Jablonski, George Chaplin, Emma Beckett
OBJECTIVES: Folate-mediated 1-carbon transfer processes are vital in human health but are susceptible to independent and interactive influences of genetic variance and environmental exposures. Evidence suggests folate levels may be impacted by genetic variance and environmental UVR, with the effect of UVR levels influenced in part by degree of skin pigmentation. Folate-related genes are also influenced by UVR levels; however, the potential relationship between key folate-related genes and skin pigmentation has not yet been explored...
November 21, 2017: American Journal of Human Biology: the Official Journal of the Human Biology Council
https://www.readbyqxmd.com/read/29158433/whole-genome-characterization-of-bacillus-cereus-associated-with-specific-disease-manifestations
#18
T Chang, J W Rosch, Z Gu, H Hakim, C Hewitt, A Gaur, G Wu, R T Hayden
Bacillus cereus remains an important cause of infections, particularly in immunocompromised hosts. While typically associated with enteric infections, disease manifestations can be quite diverse and include skin infections, bacteremia, pneumonia, and meningitis. Whether there are any genetic correlates of bacterial strains with particular clinical manifestations remains unknown. To address this gap in understanding we undertook whole genome analysis of B. cereus strains isolated from patients with a range of disease manifestations, including non-invasive colonizing disease, superficial skin infections, and invasive bacteremia...
November 20, 2017: Infection and Immunity
https://www.readbyqxmd.com/read/29157267/transcriptomic-analysis-reveals-the-key-immune-related-signalling-pathways-of-sebastiscus-marmoratus-in-response-to-infection-with-the-parasitic-ciliate-cryptocaryon-irritans
#19
Fei Yin, Dong Qian
BACKGROUND: False kelpfish (Sebastiscus marmoratus) is one of the target species in artificial breeding in China, and is susceptible to infection by Cryptocaryon irritans, which is an obligate parasitic ciliate that lives in the epithelium of the fish gills, skin and fins. Here, we sought to understand the mechanisms of molecular immunity of S. marmoratus against C. irritans infection. METHODS: We carried out an extensive analysis of the transcriptome of S. marmoratus immune-related tissues...
November 21, 2017: Parasites & Vectors
https://www.readbyqxmd.com/read/29156750/somatic-mutations-in-cdh1-and-ctnnb1-in-primary-carcinomas-at-13-anatomic-sites
#20
Evan L Busch, Jason L Hornick, Renato Umeton, Adem Albayrak, Neal I Lindeman, Laura E MacConaill, Elizabeth P Garcia, Matthew Ducar, Timothy R Rebbeck
Metastases are involved in most cancer deaths. Evidence has suggested that cancer cell detachment from primary tumors might occur largely via the mechanism of epithelial-mesenchymal transition (EMT) activated by epigenetic events, but data addressing other possible triggers of detachment, particularly genetic mutations, have been limited. Using the Profile study of cancer genomics at Dana-Farber Cancer Institute, we examined somatic mutations in the EMT genes CDH1 in 5,106 primary carcinomas and CTNNB1 in 7,578 primary carcinomas across 13 anatomic sites: urinary bladder, breast, colon/rectum, endometrium, esophagus, kidney, lung, ovary, pancreas, prostate, skin (non-melanoma), stomach, and thyroid...
October 17, 2017: Oncotarget
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