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Skin genomics

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https://www.readbyqxmd.com/read/28091681/microbial-rrna-sequencing-analysis-of-evaporative-cooler-indoor-environments-located-in-the-great-basin-desert-region-of-the-united-states
#1
Angela R Lemons, Mary Beth Hogan, Ruth A Gault, Kathleen Holland, Edward Sobek, Kimberly A Olsen-Wilson, Yeonmi Park, Ju-Hyeong Park, Ja Kook Gu, Michael L Kashon, Brett J Green
Recent studies conducted in the Great Basin Desert region of the United States have shown that skin test reactivity to fungal and dust mite allergens are increased in children with asthma or allergy living in homes with evaporative coolers (EC). The objective of this study was to determine if the increased humidity previously reported in EC homes leads to varying microbial populations compared to homes with air conditioners (AC). Children with physician-diagnosed allergic rhinitis living in EC or AC environments were recruited into the study...
January 16, 2017: Environmental Science. Processes & Impacts
https://www.readbyqxmd.com/read/28089920/g-protein-coupled-estrogen-receptor-mediated-non-genomic-facilitatory-effect-of-estrogen-on-cooling-induced-reduction-of-skin-blood-flow-in-mice
#2
Izumi Serizawa, Nozomi Iwasaki, Hirotake Ishida, Shin-Ya Saito, Tomohisa Ishikawa
An enhanced vasoconstrictor activity of cutaneous arteries participates in the reduction of skin blood flow induced by cooling stimulation. Raynaud's phenomenon, which is characterized by intense cooling-induced constriction of cutaneous arteries, is more common in women during the period from menarche to menopause. We thus investigated the effect of 17β-estradiol (E2) on cooling-induced reduction of plantar skin blood flow (PSBF) in mouse in vivo. Ovariectomized female ddY mice, anaesthetized with pentobarbital, were treated with tetrodotoxin for eliminating the sympathetic nerve tone and artificially ventilated...
January 12, 2017: European Journal of Pharmacology
https://www.readbyqxmd.com/read/28089076/comparative-analyses-of-secreted-proteins-in-plant-pathogenic-smut-fungi-and-related-basidiomycetes
#3
Mariana Schuster, Gabriel Schweizer, Regine Kahmann
In the ten years since the genome sequence of the basidiomycete corn smut fungus Ustilago maydis was published, additional genomes of smut species infecting different hosts became available. In addition, the genomes of related Malassezia species causing skin diseases and of Pseudozyma species not known to infect plants were determined. As secreted proteins are critical virulence determinants in U. maydis we compare here the secretomes of 12 basidiomycete species to gain information about their composition and conservation...
January 6, 2017: Fungal Genetics and Biology: FG & B
https://www.readbyqxmd.com/read/28087245/the-severe-clinical-phenotype-for-a-heterozygous-fabry-female-patient-correlates-to-the-methylation-of-non-mutated-allele-associated-with-chromosome-10q26-deletion-syndrome
#4
Mohammad Arif Hossain, Hiroko Yanagisawa, Takashi Miyajima, Chen Wu, Ayumi Takamura, Keiko Akiyama, Rina Itagaki, Kaoru Eto, Takeo Iwamoto, Takayuki Yokoi, Kenji Kurosawa, Hironao Numabe, Yoshikatsu Eto
Heterozygous Fabry females usually have an attenuated form of Fabry disease, causing them to be symptomatic; however, in rare cases, they can present with a severe phenotype. In this study, we report on a 37-year-old woman with acroparesthesia, a dysmorphic face, left ventricular hypertrophy, and intellectual disability. Her father had Fabry disease and died due to chronic renal and congestive cardiac failure. Her paternal uncle had chronic renal failure and intellectual disability, and her paternal aunt was affected with congestive cardiac failure...
January 7, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28087116/application-of-whole-exome-sequencing-in-elucidating-the-phenotype-and-genotype-spectrum-of-junctional-epidermolysis-bullosa-a-preliminary-experience-of-a-tertiary-care-centre-in-india
#5
Vamsi K Yenamandra, Shamsudheen K Vellarikkal, Manoj Kumar, Madhumita R Chowdhury, Rijith Jayarajan, Ankit Verma, Vinod Scaria, Sridhar Sivasubbu, Subrata B Ray, Amit K Dinda, Madhulika Kabra, Punit Kaur, Vinod K Sharma, Gomathy Sethuraman
BACKGROUND: Junctional epidermolysis bullosa (JEB) is a diverse group of genodermatoses associated with extreme skin fragility. Despite several well-characterized genetic studies, molecular diagnosis of this heterogeneous group is still challenging. Recent advances in the field of genomics have seen the successful implementation of whole exome sequencing (WES) as a fast and efficient diagnostic strategy in several genodermatoses. OBJECTIVE: In view of the scarcity and need of molecular studies for JEB in India, we sought to explore the potential of WES in understanding the mutational spectrum of this rare, in certain subtypes lethal, sub-group of EB...
December 29, 2016: Journal of Dermatological Science
https://www.readbyqxmd.com/read/28086749/evolution-of-the-angiopoietin-like-gene-family-in-teleosts-and-their-role-in-skin-regeneration
#6
Rita A Costa, João C R Cardoso, Deborah M Power
BACKGROUND: The skin in vertebrates is a protective barrier and damage is rapidly repaired to re-establish barrier function and maintain internal homeostasis. The angiopoietin-like (ANGPTL) proteins are a family of eight secreted glycoproteins with an important role in skin repair and angiogenesis in humans. In other vertebrates their existence and role in skin remains largely unstudied. The present study characterizes for the first time the homologues of human ANGPTLs in fish and identifies the candidates that share a conserved role in skin repair using a regenerating teleost skin model over a 4-day healing period...
January 13, 2017: BMC Evolutionary Biology
https://www.readbyqxmd.com/read/28076468/phenotypic-diversity-and-selection-maintain-leishmania-amazonensis-infectivity-in-balb-c-mouse-model
#7
Benoît Espiau, Virginia Vilhena, Armelle Cuvillier, Aldina Barral, Gilles Merlin
Leishmania are protozoan parasites that show remarkable diversity, as revealed by the various clinical forms of leishmaniasis, which can range from mild skin lesions to severe metastatic cutaneous/mucosal lesions. The exact nature and extent of Leishmania phenotypic diversity in establishing infection is not fully understood. In order to try to understand some aspects of this diversity, we subcutaneously infected BALB/c mice with first and second generation subclones of a L. amazonensis strain isolated from a patient (BA125) and examined in vivo lesion growth rate and antimony susceptibility...
January 1, 2017: Memórias do Instituto Oswaldo Cruz
https://www.readbyqxmd.com/read/28073918/identical-bacterial-populations-colonize-premature-infant-gut-skin-and-oral-microbiomes-and-exhibit-different-in-situ-growth-rates
#8
Matthew R Olm, Christopher T Brown, Brandon Brooks, Brian Firek, Robyn Baker, David Burstein, Karina Soenjoyo, Brian C Thomas, Michael Morowitz, Jillian Banfield
The initial microbiome impacts the health and future development of premature infants. Methodological limitations have led to gaps in our understanding of the habitat range and subpopulation complexity of founding strains, as well as how different body sites support microbial growth. Here, we used metagenomics to reconstruct genomes of strains that colonized the skin, mouth and gut of two hospitalized premature infants during the first month of life. Seven bacterial populations, considered to be identical given whole-genome average nucleotide identity of >99...
January 10, 2017: Genome Research
https://www.readbyqxmd.com/read/28070760/the-generation-r-study-design-and-cohort-update-2017
#9
Marjolein N Kooijman, Claudia J Kruithof, Cornelia M van Duijn, Liesbeth Duijts, Oscar H Franco, Marinus H van IJzendoorn, Johan C de Jongste, Caroline C W Klaver, Aad van der Lugt, Johan P Mackenbach, Henriëtte A Moll, Robin P Peeters, Hein Raat, Edmond H H M Rings, Fernando Rivadeneira, Marc P van der Schroeff, Eric A P Steegers, Henning Tiemeier, André G Uitterlinden, Frank C Verhulst, Eppo Wolvius, Janine F Felix, Vincent W V Jaddoe
The Generation R Study is a population-based prospective cohort study from fetal life until adulthood. The study is designed to identify early environmental and genetic causes and causal pathways leading to normal and abnormal growth, development and health from fetal life, childhood and young adulthood. This multidisciplinary study focuses on several health outcomes including behaviour and cognition, body composition, eye development, growth, hearing, heart and vascular development, infectious disease and immunity, oral health and facial growth, respiratory health, allergy and skin disorders of children and their parents...
December 2016: European Journal of Epidemiology
https://www.readbyqxmd.com/read/28067894/unexpected-uvr-and-non-uvr-mutation-burden-in-some-acral-and-cutaneous-melanomas
#10
Robert V Rawson, Peter A Johansson, Nicholas K Hayward, Nicola Waddell, Ann-Marie Patch, Serigne Lo, John V Pearson, John F Thompson, Graham J Mann, Richard A Scolyer, James S Wilmott
Ultraviolet radiation (UVR) mutagenesis causes nearly all cutaneous melanomas, however, since UVR signatures are largely absent in acral melanoma, as well as melanoma in sun-protected sites, the cause of these melanomas is unknown. Whole-genome sequencing data generated as part of the Australian Melanoma Genome Project was supplemented with a detailed histopathological assessment with the melanomas then classified as UVR or non-UVR related, based on their mutation signatures. The clinicopathological characteristics of melanomas with mutation signatures for their subtype were compared...
January 9, 2017: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/28063885/identification-of-nf-%C3%AE%C2%BAb-related-genes-in-channel-catfish-and-their-expression-profiles-in-mucosal-tissues-after-columnaris-bacterial-infection
#11
Xiaozhu Wang, Shikai Liu, Yujia Yang, Qiang Fu, Ash Abebe, Zhanjiang Liu
Interactions of NF-κB family, IκB family and IKK complex are the key components of NF-κB pathway that is essential for many biological processes including innate and adaptive immunity, inflammation and stress responses. In spite of their importance, systematic analysis of these genes in fish has been lacking. Here we report a systematic study of the NF-κB related genes in channel catfish. Five NF-κB family genes, five IκB family genes and three IKK complex genes were identified in the channel catfish genome...
January 4, 2017: Developmental and Comparative Immunology
https://www.readbyqxmd.com/read/28060736/investigating-the-utility-of-human-melanoma-cell-lines-as-tumour-models
#12
Krista Marie Vincent, Lynne-Marie Postovit
Melanoma researchers utilize cell lines to model many tumour phenomena. It is thus important to understand similarities and differences between cell lines and the tumours that they represent, so that the optimal models can be chosen to answer specific research questions. Herein, we compared the transcriptomes of 42 melanoma cell lines to hundreds of tumours from The Cancer Genome Atlas and thousands of single melanoma cells. Tumour purity was accounted for using the ESTIMATE algorithm, so that differences likely resulting from non-tumour cells could be accounted for...
January 2, 2017: Oncotarget
https://www.readbyqxmd.com/read/28058543/genomic-profiling-of-canine-mast-cell-tumors-identifies-dna-copy-number-aberrations-associated-with-kit-mutations-and-high-histological-grade
#13
Hiroyuki Mochizuki, Rachael Thomas, Scott Moroff, Matthew Breen
Mast cell tumor (MCT) is the most common skin malignancy of domestic dogs and presents with a widely variable clinical behavior. Although activating KIT mutations are present in approximately 20% of canine MCTs, molecular etiology is largely unknown for the majority of this cancer. Characterization of genomic alterations in canine MCTs may identify genomic regions and/or genes responsible for their development and progression, facilitating the discovery of new therapeutic targets and improved clinical management of this heterogeneous cancer...
January 5, 2017: Chromosome Research
https://www.readbyqxmd.com/read/28055328/human-and-dromedary-camel-infection-with-camelpox-virus-in-eastern-sudan
#14
Abdelmalik I Khalafalla, Fatima Abdelazim
We provide evidence for the zoonotic nature of camelpox virus by reporting infections that involved dromedary camels and three camel herders in Showak area of eastern Sudan between September and December 2014. The skin lesions in the camel herders consisted of erythema, vesicles, and pustules that involved arms, hands, legs, back, and abdomen and resolved within less than 2 months with no human-to-human transmission. The diagnosis was achieved through molecular technique, virus isolation in cell culture, and partial genome sequencing...
January 5, 2017: Vector Borne and Zoonotic Diseases
https://www.readbyqxmd.com/read/28054069/challenge-and-perspective-the-relevance-of-ultraviolet-uv-radiation-and-the-vitamin-d-endocrine-system-vdes-for-psoriasis-and-other-inflammatory-skin-diseases
#15
Jörg Reichrath, Roman Saternus, Thomas Vogt
During evolution, the ability of many organisms to synthesize vitamin D photochemically represented, and still represents, a major driving factor for the development of life on earth. In humans because not more than 10-20% of the requirement of vitamin D can be satisfied by the diet (under most living conditions in the US and Europe), the remaining 80-90% need to be photochemically synthesized in the skin through the action of solar or artificial ultraviolet-B (UV-B) radiation. The skin is a key organ of the human body's vitamin D endocrine system (VDES), representing both the site of vitamin D synthesis and a target tissue for biologically active vitamin D metabolites...
January 5, 2017: Photochemical & Photobiological Sciences
https://www.readbyqxmd.com/read/28049147/merkel-cell-polyomavirus-exhibits-dominant-control-of-the-tumor-genome-and-transcriptome-in-virus-associated-merkel-cell-carcinoma
#16
Gabriel J Starrett, Christina Marcelus, Paul G Cantalupo, Joshua P Katz, Jingwei Cheng, Keiko Akagi, Manisha Thakuria, Guilherme Rabinowits, Linda C Wang, David E Symer, James M Pipas, Reuben S Harris, James A DeCaprio
: Merkel cell polyomavirus is the primary etiological agent of the aggressive skin cancer Merkel cell carcinoma (MCC). Recent studies have revealed that UV radiation is the primary mechanism for somatic mutagenesis in nonviral forms of MCC. Here, we analyze the whole transcriptomes and genomes of primary MCC tumors. Our study reveals that virus-associated tumors have minimally altered genomes compared to non-virus-associated tumors, which are dominated by UV-mediated mutations. Although virus-associated tumors contain relatively small mutation burdens, they exhibit a distinct mutation signature with observable transcriptionally biased kataegic events...
January 3, 2017: MBio
https://www.readbyqxmd.com/read/28040135/pallister-killian-syndrome-cytogenetics-and-molecular-investigations-of-mosaic-tetrasomy-12p-in-prenatal-chorionic-villus-and-in-amniocytes-strategy-of-prenatal-diagnosis
#17
Francesco Libotte, Domenico Bizzoco, Ivan Gabrielli, Alvaro Mesoraca, Pietro Cignini, Salvatore Giovanni Vitale, Ilaria Marilli, Ferdinando Antonio Gulino, Agnese Maria Chiara Rapisarda, Claudio Giorlandino
OBJECTIVE: Pallister-Killian syndrome (PKS) is a rare, sporadic genetic disorder caused by mosaic tetrasomy of the short arm of chromosome 12 (12p). Clinically, PKS is characterized by several systemic abnormalities, such as intellectual impairment, hearing loss, epilepsy, hypotonia, craniofacial dysmorphism, pigmentary skin anomalies, epilepsy, and a variety of congenital malformations. Prenatally, PKS can be suspected in the presence of ultrasound anomalies: diaphragmatic hernia, rhizomelic micromelia, hydrops fetalis, fetal overweight, ventriculomegaly in the central nervous system, congenital heart defects, or absent visualization of the stomach...
December 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28031834/birt-hogg-dub%C3%A3-syndrome-in-an-indonesian-patient-with-folliculin-gene-mutation
#18
Wiwien Heru Wiyono, Fariz Nurwidya, Hario Baskoro, Andika Chandra Putra
Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant disorder that affects the skin, kidney, and lungs. Affected individuals have an increased risk of developing multiple cysts in the lungs and a spontaneous pneumothorax. Germline mutations in the folliculin (FLCN) gene have been confirmed as the aetiology of BHD syndrome. A 51-year-old Indonesian female presented with recurrent spontaneous pneumothorax, multiple cysts in both lungs, and a renal cyst on magnetic resonance imaging (MRI). Blood sampling was performed to extract genomic DNA from peripheral blood leucocytes...
November 2016: Respirology Case Reports
https://www.readbyqxmd.com/read/28031200/low-frequency-of-ceftazidime-avibactam-resistance-among-enterobacteriaceae-isolates-carrying-blakpc-collected-in-hospitals-from-the-united-states-from-2012-to-2015
#19
Mariana Castanheira, Rodrigo E Mendes, Helio S Sader
KPC-producing Enterobacteriaceae isolates have been increasingly reported worldwide and therapeutic options to treat infections caused by these organisms are limited. We evaluated the activity of ceftazidime-avibactam and comparators against 456 Enterobacteriaceae isolates carrying blaKPC collected from 79 United States hospitals during 2012-2015. Overall, ceftazidime-avibactam (MIC50/90, 0.5/2 μg/mL; 99.3% susceptible) and tigecycline (MIC50/90, 0.5/1 μg/mL; 98.9% at ≤2 μg/mL) were the most active agents...
December 28, 2016: Antimicrobial Agents and Chemotherapy
https://www.readbyqxmd.com/read/28030792/genomic-expression-differences-between-cutaneous-cells-from-red-hair-color-individuals-and-black-hair-color-individuals-based-on-bioinformatic-analysis
#20
Joan Anton Puig-Butille, Pol Gimenez-Xavier, Alessia Visconti, Jérémie Nsengimana, Francisco Garcia-García, Gemma Tell-Marti, Maria José Escamez, Julia Newton-Bishop, Veronique Bataille, Marcela Del Río, Joaquín Dopazo, Mario Falchi, Susana Puig
The MC1R gene plays a crucial role in pigmentation synthesis. Loss-of-function MC1R variants, which impair protein function, are associated with red hair color (RHC) phenotype and increased skin cancer risk. Cultured cutaneous cells bearing loss-of-function MC1R variants show a distinct gene expression profile compared to wild-type MC1R cultured cutaneous cells. We analysed the gene signature associated with RHC co-cultured melanocytes and keratinocytes by Protein-Protein interaction (PPI) network analysis to identify genes related with non-functional MC1R variants...
December 24, 2016: Oncotarget
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