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https://www.readbyqxmd.com/read/28212922/organ-specific-biomarkers-in-lupus
#1
REVIEW
Haijing Wu, Jinrong Zeng, Ming Zhao, Qianjin Lu
Systemic lupus erythematosus (SLE) is a complex and highly heterogeneous disease, which affects multiple organs, including joints, skin, kidneys, heart, hematopoietic system, and nerve system. While the etiopathogenesis of SLE still remains unclear, genetic susceptibilities and aberrant epigenetic modifications are believed to be involved. For precision therapy, it is necessary to assess accurately and objectively organ involvements and disease activity, which is difficult by current clinical laboratory tests...
February 14, 2017: Autoimmunity Reviews
https://www.readbyqxmd.com/read/28207822/identification-classification-and-transcription-profiles-of-the-b-type-response-regulator-family-in-pear
#2
Junbei Ni, Songling Bai, Ling Gao, Minjie Qian, Linbing Zhong, Yuanwen Teng
Type-B response regulators (B-RRs) are transcription factors that function in the final step of two-component signaling systems. In model plants, B-RRs have been shown to play important roles in cytokinin signal transduction. However, the functions of B-RRs in pear have not been well studied. In this report, we conducted a genome-wide analysis and identified 11 putative genes encoding B-PpRR proteins based on the published genome sequence of Pyrus bretschneideri. A phylogenetic tree of the B-PpRR family was constructed, and the motif distribution, chromosome localization, and gene structure of B-PpRR family genes were determined...
2017: PloS One
https://www.readbyqxmd.com/read/28202469/establishment-and-maintenance-of-sexual-preferences-that-cause-a-reproductive-isolation-between-medaka-strains-in-close-association
#3
Mayuka Ikawa, Emi Ohya, Hiroka Shimada, Makiko Kamijo, Shoji Fukamachi
Animals choose reproductive partners based on their sexual preferences which are established at a certain time point before, during, or after sexual maturation. The preferences are often divergent within a species, which suppresses gene flow between populations and may promote speciation. There are two strains of medaka (Oryzias latipes) that differ by a single transgene and mate assortatively depending on skin color. Here, we demonstrate that symmetrically biased (mutually exclusive) sexual preferences are (1) gradually established during growth depending on skin color and the color of surrounding fish, (2) strong enough to minimize gene flow between the strains at a population level, and (3) inflexibly retained after sexual maturation, even after weeks of daily mating with partners of the other strain...
February 15, 2017: Biology Open
https://www.readbyqxmd.com/read/28197791/clinical-manifestations-and-genetic-analysis-of-17-patients-with-autosomal-dominant-hyper-ige-syndrome-in-mainland-china-new-reports-and-a-literature-review
#4
Jing Wu, Ji Chen, Zhi-Qing Tian, Hao Zhang, Ruo-Lan Gong, Tong-Xin Chen, Li Hong
PURPOSE: Autosomal dominant hyper-IgE syndrome (AD-HIES) is a rare complicated primary immunodeficiency disease (PID). Signal transducer and activator of transcription 3 (STAT3) gene mutation is found to cause AD-HIES. The distribution of AD-HIES patients with STAT3 deficiency in the Chinese population is not clear. Herein, we retrospectively report 17 AD-HIES patients with STAT3 deficiency and demonstrate their clinical, immunological, and genetic features. METHODS: Patients' clinical data were collected from their medical records...
February 14, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28194491/-merkel-cell-carcinoma-cutaneous-manifestation-of-a-highly-malignant-pre-pro-b%C3%A2-cell-neoplasia-novel-concept-about-the-cellular-origin-of-merkel-cell-carcinoma
#5
REVIEW
C M Sauer, E Chteinberg, D Rennspiess, A K Kurz, A Zur Hausen
Merkel cell carcinoma (MCC) is a relatively rare but highly malignant non-melanoma skin cancer of the elderly and immunosuppressed patients. The discovery of the Merkel cell polyomavirus (MCPyV) in 2008 significantly impacted the understanding of the etiopathogenesis of MCC. MCPyV is clonally integrated into the MCC genome and approximately 80% of MCC are MCPyV-positive. Recent results of clinical trials using blockade of the PD-1 immune modulatory pathway are promising for the future treatment of MCC. Despite this major progress of the past few years, the cellular origin of MCC still remains obscure...
February 13, 2017: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
https://www.readbyqxmd.com/read/28194314/evolutionary-and-functional-implications-of-hypervariable-loci-within-the-skin-virome
#6
Geoffrey D Hannigan, Qi Zheng, Jacquelyn S Meisel, Samuel S Minot, Frederick D Bushman, Elizabeth A Grice
Localized genomic variability is crucial for the ongoing conflicts between infectious microbes and their hosts. An understanding of evolutionary and adaptive patterns associated with genomic variability will help guide development of vaccines and antimicrobial agents. While most analyses of the human microbiome have focused on taxonomic classification and gene annotation, we investigated genomic variation of skin-associated viral communities. We evaluated patterns of viral genomic variation across 16 healthy human volunteers...
2017: PeerJ
https://www.readbyqxmd.com/read/28190385/evidence-of-pkc-binding-and-translocation-to-explain-the-anticancer-mechanism-of-chlorogenic-acid-in-breast-cancer-cells
#7
S J Deka, S Gorai, D Manna, V Trivedi
Chlorogenic acid (CGA) exhibits potentials towards liver, breast and skin cancer. Cancer cells stimulated with CGA exhibits differential expression of transcriptional factors and regulatory molecules but the molecular target of the molecule is not known. Superposition of biophoric elements of CGA with Curcumin gives maximum common substructure score of 0.90. Molecular modeling studies further suggest that CGA fits into the C1b domain of PKC with extensive interaction with residues lining binding site. It binds PKC in a concentration dependent manner with dissociation constant KD, 28...
February 9, 2017: Current Molecular Medicine
https://www.readbyqxmd.com/read/28187142/mosquito-cell-derived-west-nile-virus-replicon-particles-mimic-arbovirus-inoculum-and-have-reduced-spread-in-mice
#8
Brendan T Boylan, Fernando R Moreira, Tim W Carlson, Kristen A Bernard
Half of the human population is at risk of infection by an arthropod-borne virus. Many of these arboviruses, such as West Nile, dengue, and Zika viruses, infect humans by way of a bite from an infected mosquito. This infectious inoculum is insect cell-derived giving the virus particles distinct qualities not present in secondary infectious virus particles produced by infected vertebrate host cells. The insect cell-derived particles differ in the glycosylation of virus structural proteins and the lipid content of the envelope, as well as their induction of cytokines...
February 10, 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28183777/correction-for-mathijs-et-al-complete-genome-sequences-of-the-neethling-like-lumpy-skin-disease-virus-strains-obtained-directly-from-three-commercial-live-attenuated-vaccines
#9
Elisabeth Mathijs, Frank Vandenbussche, Andy Haegeman, Alasdair King, Bethuel Nthangeni, Christiaan Potgieter, Louis Maartens, Steven Van Borm, Kris De Clercq
No abstract text is available yet for this article.
February 9, 2017: Genome Announcements
https://www.readbyqxmd.com/read/28157696/resveratrol-induces-mitochondria-mediated-caspase-independent-apoptosis-in-murine-prostate-cancer-cells
#10
Sanjay Kumar, Erdal Eroglu, James A Stokes, Karyn Scissum-Gunn, Sabita N Saldanha, Udai P Singh, Upender Manne, Selvarangan Ponnazhagan, Manoj K Mishra
Found in the skins of red fruits, including grapes, resveratrol (RES) is a polyphenolic compound with cancer chemopreventive activity. Because of this activity, it has gained interest for scientific investigations. RES inhibits tumor growth and progression by targeting mitochondria-dependent or -independent pathways. However, further investigations are needed to explore the underlying mechanisms.The present study is focused on examining the role of RES-induced, mitochondria-mediated, caspase-independent apoptosis of prostate cancer cells, namely transgenic adenocarcinoma of mouse prostate (TRAMP) cells...
February 1, 2017: Oncotarget
https://www.readbyqxmd.com/read/28157540/large-intragenic-deletion-in-dstyk-underlies-autosomal-recessive-complicated-spastic-paraparesis-spg23
#11
John Y W Lee, Chao-Kai Hsu, Magdalene Michael, Arti Nanda, Lu Liu, James R McMillan, Celine Pourreyron, Takuya Takeichi, Jakub Tolar, Evan Reid, Thomas Hayday, Sergiu C Blumen, Saif Abu-Mouch, Rachel Straussberg, Lina Basel-Vanagaite, Yael Barhum, Yasmin Zouabi, Hejab Al-Ajmi, Hsin-Yu Huang, Ting-Chien Lin, Masashi Akiyama, Julia Y Y Lee, W H Irwin McLean, Michael A Simpson, Maddy Parsons, John A McGrath
SPG23 is an autosomal-recessive neurodegenerative subtype of lower limb spastic paraparesis with additional diffuse skin and hair dyspigmentation at birth followed by further patchy pigment loss during childhood. Previously, genome-wide linkage in an Arab-Israeli pedigree mapped the gene to an approximately 25 cM locus on chromosome 1q24-q32. By using whole-exome sequencing in a further Palestinian-Jordanian SPG23 pedigree, we identified a complex homozygous 4-kb deletion/20-bp insertion in DSTYK (dual serine-threonine and tyrosine protein kinase) in all four affected family members...
February 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28155250/overcoming-cell-death-resistance-in-skin-cancer-therapy-novel-translational-perspectives
#12
M Feoktistova, D Panayotova-Dimitrova
In the last decade, significant progress has been made in understanding skin cancer cell death resistance mechanisms, and a number of new treatment strategies have been developed. Systematic approach genomic studies of various cancer types have opened new possibilities for the development of anti-cancer therapies. However, there are still fundamental gaps in the challenging biomedical puzzle, which will form a complete picture for curing cancer. Thus, herein, we describe some of the current cancer treatment strategies and discuss additional cell signalling pathways that could be potential targets for skin cancer treatment...
February 3, 2017: Experimental Dermatology
https://www.readbyqxmd.com/read/28153901/draft-genome-sequence-of-staphylococcus-hominis-bhg17-isolated-from-wild-bar-headed-goose-anser-indicus-feces
#13
Wen Wang, Si-Si Zheng, Kirill Sharshov, Hao Sun, Xian-Qiang Wu, Fang Yang, Xue-Lian Wang, Lai-Xing Li
Staphylococcus hominis belongs to a group of coagulase-negative staphylococci and is an opportunistic pathogen, usually found on the skin and mucous membranes. Studies involving S. hominis isolated from wild birds are scarce. Here, we report a 2.365-Mb draft genome sequence of S. hominis BHG17, isolated from the feces of a bar-headed goose.
February 2, 2017: Genome Announcements
https://www.readbyqxmd.com/read/28152015/identification-of-the-early-and-late-responder-genes-during-the-generation-of-induced-pluripotent-stem-cells-from-mouse-fibroblasts
#14
Jihwan Park, Yoo-Wook Kwon, Seokjin Ham, Chang-Pyo Hong, Seonghye Seo, Moon Kyung Choe, So-I Shin, Choon-Soo Lee, Hyo-Soo Kim, Tae-Young Roh
BACKGROUND: The generation of induced pluripotent stem cell (iPSC), a substitute for embryonic stem cell (ESC), requires the proper orchestration of a transcription program at the chromatin level. Our recent approach for the induction of pluripotent stem cells from fibroblasts using protein extracts from mouse ESCs could overcome the potential tumorigenicity risks associated with random retroviral integration. Here, we examine the epigenetic modifications and the transcriptome of two types of iPSC and of partially reprogrammed iPSCs (iPSCp) generated independently from adult cardiac and skin fibroblasts to assess any perturbations of the transcription program during reprogramming...
2017: PloS One
https://www.readbyqxmd.com/read/28137859/efficient-in-vivo-gene-editing-using-ribonucleoproteins-in-skin-stem-cells-of-recessive-dystrophic-epidermolysis-bullosa-mouse-model
#15
Wenbo Wu, Zhiwei Lu, Fei Li, Wenjie Wang, Nannan Qian, Jinzhi Duan, Yu Zhang, Fengchao Wang, Ting Chen
The prokaryotic CRISPR/Cas9 system has recently emerged as a powerful tool for genome editing in mammalian cells with the potential to bring curative therapies to patients with genetic diseases. However, efficient in vivo delivery of this genome editing machinery and indeed the very feasibility of using these techniques in vivo remain challenging for most tissue types. Here, we show that nonreplicable Cas9/sgRNA ribonucleoproteins can be used to correct genetic defects in skin stem cells of postnatal recessive dystrophic epidermolysis bullosa (RDEB) mice...
January 30, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28133874/the-cutaneous-ecosystem-the-roles-of-the-skin-microbiome-in-health-and-its-association-with-inflammatory-skin-conditions-in-humans-and-animals
#16
REVIEW
Aline Rodrigues Hoffmann
BACKGROUND: Inhabiting a sterile world is no longer an acceptable or desirable concept. Recent studies developed in the microbiome field have unveiled complex microbial populations inhabiting the skin, digestive, respiratory and reproductive tracts. Microbiome studies have opened new venues to explore the human and animal second genome, its functions and its importance in maintaining health. SKIN MICROBIOME IN HEALTH: The composition of the skin microbiome varies across different body sites and across individuals, being influenced by different host habits, including for instance age, sex, diet, hygiene and lifestyle...
February 2017: Veterinary Dermatology
https://www.readbyqxmd.com/read/28129744/vitiligo-blood-transcriptomics-provides-new-insights-into-disease-mechanisms-and-identifies-potential-novel-therapeutic-targets
#17
Rama Dey-Rao, Animesh A Sinha
BACKGROUND: Significant gaps remain regarding the pathomechanisms underlying the autoimmune response in vitiligo (VL), where the loss of self-tolerance leads to the targeted killing of melanocytes. Specifically, there is incomplete information regarding alterations in the systemic environment that are relevant to the disease state. METHODS: We undertook a genome-wide profiling approach to examine gene expression in the peripheral blood of VL patients and healthy controls in the context of our previously published VL-skin gene expression profile...
January 28, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28129029/chromosome-conformation-and-gene-expression-patterns-differ-profoundly-in-human-fibroblasts-grown-in-spheroids-versus-monolayers
#18
Haiming Chen, Laura Seaman, Sijia Liu, Thomas Ried, Indika Rajapakse
Human cells derived for in vitro cultures are conventionally grown as adherent monolayers (2 D) which do not resemble natural three dimensional (3 D) tissue architecture. We examined genome structure with chromosome conformation capture (Hi-C) and gene expression with RNA-seq in fibroblasts derived from human foreskin grown in 2 D and 3 D conditions. Our combined analysis of Hi-C and RNA-seq data shows a large number of differentially expressed genes between 2 D and 3 D cells, and these changes are localized in genomic regions that displayed structural changes...
January 27, 2017: Nucleus
https://www.readbyqxmd.com/read/28125016/testing-human-skin-and-respiratory-sensitizers-what-is-good-enough
#19
Anki Malmborg, Carl A K Borrebaeck
Alternative methods for accurate in vitro assessment of skin and respiratory sensitizers are urgently needed. Sensitization is a complex biological process that cannot be evaluated accurately using single events or biomarkers, since the information content is too restricted in these measurements. On the contrary, if the tremendous information content harbored in DNA/mRNA could be mined, most complex biological processes could be elucidated. Genomic technologies available today, including transcriptional profiling and next generation sequencing, have the power to decipher sensitization, when used in the right context...
January 24, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28122049/a-defect-in-nipal4-is-associated-with-autosomal-recessive-congenital-ichthyosis-in-american-bulldogs
#20
Margret L Casal, Ping Wang, Elizabeth A Mauldin, Gloria Lin, Paula S Henthorn
Autosomal recessive congenital ichthyosis in the American bulldog is characterized by generalized scaling and erythema with adherent scale on the glabrous skin. We had previously linked this disorder to NIPAL4, which encodes the protein ichthyin. Sequencing of NIPAL4 revealed a homozygous single base deletion (CanFam3.1 canine reference genome sequence NC_06586.3 g.52737379del), the 157th base (cytosine) in exon 6 of NIPAL4 as the most likely causative variant in affected dogs. This frameshift deletion results in a premature stop codon producing a truncated and defective NIPAL4 (ichthyin) protein of 248 amino acids instead of the wild-type length of 404...
2017: PloS One
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