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https://www.readbyqxmd.com/read/29908077/genome-sequencing-uncovers-phenocopies-in-primary-progressive-multiple-sclerosis
#1
Xiaoming Jia, Lohith Madireddy, Stacy Caillier, Adam Santaniello, Federica Esposito, Giancarlo Comi, Olaf Stuve, Yuan Zhou, Bruce Taylor, Trevor Kilpatrick, Filippo Martinelli-Boneschi, Bruce A C Cree, Jorge R Oksenberg, Stephen L Hauser, Sergio E Baranzini
OBJECTIVE: Primary progressive multiple sclerosis (PPMS) causes accumulation of neurologic disability from disease onset without clinical attacks typical of relapsing multiple sclerosis (RMS). However, whether genetic variation influences the disease course remains unclear. We aimed to determine whether mutations causative of neurologic disorders that share features with MS contribute to risk for developing PPMS. METHODS: We examined whole-genome sequencing (WGS) data from 38 PPMS and 81 healthy subjects of European ancestry...
June 16, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29907907/three-novel-mutations-in-20-patients-with-hereditary-spastic-paraparesis
#2
Mehmet Bugrahan Duz, Selcuk Dasdemir, Aysel Kalayci Yigin, Mehmet Ali Akalin, Mehmet Seven
Hereditary spastic paraparesis (HSP) constitutes both genetic and clinically heterogeneous group of upper motor neuron diseases. Half of the individuals with autosomal dominant (AD) HSP have mutations in SPAST, ATL1, and REEP1 genes. This study was conducted to elucidate the genetic etiology of patients with the pure type AD-HSP diagnosis. The patient group consisted of 23 individuals from 6 families in Turkey. In the first step of work, Sanger sequencing (SS) was performed in ATL1, SPAST, and REEP1 genes and the second phase whole-exome sequencing (WES) was performed following SS analysis for the patients with no detected mutations in these genes...
June 16, 2018: Neurological Sciences
https://www.readbyqxmd.com/read/29902206/modification-of-n6-methyladenosine-rna-methylation-on-heat-shock-protein-expression
#3
Jiayao Yu, Yi Li, Tian Wang, Xiang Zhong
This study was conducted to investigate effect of N6-methyladenosine (m6A) RNA methylation on Heat shock proteins (HSPs) and dissect the profile of HSP RNA methylation. The results showed that m6A methyltransferases METTL3 mRNA was decreased in responses to heat shock stress in HepG2 cells, but m6A-specific binding protein YTHDF2 mRNA was upregulated in a manner similar to HSP70 induction. Immunofluorescence staining showed that the majority of YTHDF2 was present in the cytosol, however, nearly all YTHDF2 translocated from the cytosol into the nucleus after heat shock...
2018: PloS One
https://www.readbyqxmd.com/read/29897966/salinity-reduction-benefits-european-eel-larvae-insights-at-the-morphological-and-molecular-level
#4
Sebastian N Politis, David Mazurais, Arianna Servili, Jose-Luis Zambonino-Infante, Joanna J Miest, Jonna Tomkiewicz, Ian A E Butts
European eel (Anguilla anguilla) is a euryhaline species, that has adapted to cope with both, hyper- and hypo-osmotic environments. This study investigates the effect of salinity, from a morphological and molecular point of view on European eel larvae reared from 0 to 12 days post hatch (dph). Offspring reared in 36 practical salinity units (psu; control), were compared with larvae reared in six scenarios, where salinity was decreased on 0 or 3 dph and in rates of 1, 2 or 4 psu/day, towards iso-osmotic conditions...
2018: PloS One
https://www.readbyqxmd.com/read/29897590/comparisons-of-expression-levels-of-heat-shock-proteins-hsp70-and-hsp90-from-anaphothrips-obscurus-thysanoptera-thripidae-in-polymorphic-adults-exposed-to-different-heat-shock-treatments
#5
Xue-Jie Guo, Ji-Nian Feng
Heat shock proteins (Hsps) are prominent proteins that greatly contribute to insect survival under stress conditions. In this study, we cloned two Hsp transcripts (Aohsp70 and Aohsp90) from the grass thrip, Anaphothrips obscurus (Müller) (Thysanoptera: Thripidae), which is a polymorphic winged pest of corn and wheat. The cDNA sequences of Aohsp70 and Aohsp90 are 2382 and 2504 bp long, and encode proteins with calculated molecular weights of 70.02 kDa and 83.40 kDa, respectively. Aohsp90 was highly expressed in adults of both brachypters and macropters...
May 1, 2018: Journal of Insect Science
https://www.readbyqxmd.com/read/29896721/-analysis-of-spinocerebellar-ataxia-type-31-related-mutations-among-patients-from-mainland-china
#6
Ke Yang, Sheng Zeng, Zhen Liu, Shuying Shi, Weining Sun, Yanchun Yuan, Ling Weng, Hong Jiang, Lu Shen, Beisha Tang, Junling Wang
OBJECTIVE: To determine the frequency of spinocerebellar ataxia type 31 (SCA31) related mutations among patients from mainland China. METHODS: For a cohort of molecularly unassigned patients comprised of 295 SCA patients (including 98 probands from families featuring autosomal dominant SCA and 197 sporadic cases) and 81 patients with hereditary spastic paraplegia (HSP) (including 23 probands from families with autosomal dominant HSP and 58 sporadic cases),TGGAA pentanucleotide expansion insertional mutation of the BEAN/TK2 gene was detected using repeat-primed PCR followed by capillary gel electrophoresis...
June 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29892903/transcriptional-profiling-of-antioxidant-defense-system-and-heat-shock-protein-hsp-families-in-the-cadmium-and-copper-exposed-marine-ciliate-euplotes-crassu
#7
Bo-Mi Kim, Jae-Sung Rhee, Ik-Young Choi, Young-Mi Lee
To understand the transcriptional response of antioxidant defense system and heat shock protein (Hsp) families of the marine ciliate Euplotes crassus, we analyzed the transcriptome profile using RNA-seq technology after exposure to cadmium (Cd) and copper (Cu). De novo sequence assembly produced 61,240 unigenes with 21,330 BLAST hits and showed high sequence orthology with transcriptomes of other ciliates. Gene annotation and gene ontology (GO) comparison revealed that E. crassus expressed highly diversified but conserved stress-responsive gene families of the antioxidant defense system and Hsps...
January 2018: Genes & Genomics
https://www.readbyqxmd.com/read/29892902/wide-phenotypic-spectrum-in-axonal-charcot-marie-tooth-neuropathy-type-2-patients-with-kif5a-mutations
#8
Da Eun Nam, Da Hye Yoo, Sun Seong Choi, Byung-Ok Choi, Ki Wha Chung
The kinesin heavy chain isoform 5A (KIF5A) gene, which encodes a microtubule-based motor protein, plays an important role in the transport of organelles in the nerve cells. Mutations in the KIF5A showed a wide phenotypic spectrum from hereditary spastic paraplegia (HSP) to axonal Charcot-Marie-Tooth peripheral neuropathy type 2 (CMT2). This study identified three pathogenic KIF5A mutations in Korean CMT2 patients by whole exome sequencing. Two mutations (p.Arg204Trp and p.Arg280His) were previously reported, but p...
January 2018: Genes & Genomics
https://www.readbyqxmd.com/read/29890785/heteronemin-a-marine-sesterterpenoid-type-metabolite-induces-apoptosis-in-prostate-lncap-cells-via-oxidative-and-er-stress-combined-with-the-inhibition-of-topoisomerase-ii-and-hsp90
#9
Man-Gang Lee, Yi-Chang Liu, Yi-Lun Lee, Mohamed El-Shazly, Kuei-Hung Lai, Shou-Ping Shih, Seng-Chung Ke, Ming-Chang Hong, Ying-Chi Du, Juan-Cheng Yang, Ping-Jyun Sung, Zhi-Hong Wen, Mei-Chin Lu
Heteronemin, a marine sesterterpenoid-type natural product, possesses diverse bioactivities, especially antitumor effect. Accumulating evidence shows that heteronemin may act as a potent anticancer agent in clinical therapy. To fully understand the antitumor mechanism of heteronemin, we further explored the precise molecular targets in prostate cancer cells. Initially, heteronemin exhibited potent cytotoxic effect against LNcap and PC3 prostate cancer cells with IC50 1.4 and 2.7 μM after 24 h, respectively...
June 10, 2018: Marine Drugs
https://www.readbyqxmd.com/read/29890510/reconstruction-of-the-genome-scale-co-expression-network-for-the-hippo-signaling-pathway-in-colorectal-cancer
#10
Fariba Dehghanian, Zohreh Hojati, Nazanin Hosseinkhan, Zaynab Mousavian, Ali Masoudi-Nejad
The Hippo signaling pathway (HSP) has been identified as an essential and complex signaling pathway for tumor suppression that coordinates proliferation, differentiation, cell death, cell growth and stemness. In the present study, we conducted a genome-scale co-expression analysis to reconstruct the HSP in colorectal cancer (CRC). Five key modules were detected through network clustering, and a detailed discussion of two modules containing respectively 18 and 13 over and down-regulated members of HSP was provided...
May 26, 2018: Computers in Biology and Medicine
https://www.readbyqxmd.com/read/29886137/the-role-of-regulator-fucp-in-edwardsiella-tarda-pathogenesis-and-the-inflammatory-cytokine-response-in-tilapia
#11
Jiayan Wu, Guangbin Liu, Yongcan Sun, Xuepeng Wang, Hao Fang, Heng Jiang, Zhiming Guo, Jinggang Dong
The animal intestine provides a competitive environment for the microbiota. Successful colonization by pathogens requires sensing chemical signals to regulate the expression of virulence genes. Some bacteria rely on a two-component chemical signal transduction system, named FusKR, to regulate virulence genes expression by intestinal fucose. Here we construct the fucP gene deletion strain prove FucP regulation of the T3SS in E. tarda. The result showed that the mutant strain had down-regulated significantly the gene expression of FusKR and T3SS compared to the wild-type strain (p < 0...
June 7, 2018: Fish & Shellfish Immunology
https://www.readbyqxmd.com/read/29884844/comparative-transcriptome-analysis-of-sogatella-furcifera-horv%C3%A3-th-exposed-to-different-insecticides
#12
Cao Zhou, Hong Yang, Zhao Wang, Gui-Yun Long, Dao-Chao Jin
White-backed planthopper, Sogatella furcifera (Horváth) (Hemiptera: Delphacidae), one of the main agricultural insect pests in China, is resistant to a wide variety of insecticides. We used transcriptome analysis to compare the expression patterns of resistance- and stress-response genes in S. furcifera subjected to imidacloprid, deltamethrin, and triazophos stress, to determine the molecular mechanisms of resistance to these insecticides. A comparative analysis of gene expression under imidacloprid, deltamethrin, and triazophos stress revealed 1,123, 841, and 316 upregulated unigenes, respectively, compared to the control...
June 8, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29883249/rabies-post-exposure-prophylaxis-for-a-male-with-severe-henoch-sch%C3%A3-nlein-purpura-following-rabies-vaccination
#13
Zheng-Gang Zhu, Yi Zheng, Sha Lu, Quan Hu, Yuan Fang
Henoch Schönlein purpura (HSP) following vaccine administration has been described in case reports and in a small number of observational studies. We herein reported a case of HSP occurring in an otherwise healthy 37-year-old male after immunization with lyophilized purified vero cell rabies vaccine (PVRV). After the anti-allergy therapy with hormone, the purpuric lesions gradually disappeared. After evaluating, another PVRV with different dose (0.5 ml), strains, excipient and without residues was chosen for the new anti-rabies immunization program, and the patient has had no recurrence of allergic symptoms...
June 8, 2018: Human Vaccines & Immunotherapeutics
https://www.readbyqxmd.com/read/29876860/a-new-avian-cryptosporidium-genotype-in-a-1-month-old-caged-brown-wood-owl-strix-leptogrammica-with-severe-dehydration-and-diarrhea
#14
Ikuko Makino, Mizue Inumaru, Niichiro Abe, Yukita Sato
A 1-month-old brown wood owlet (Strix leptogrammica) purchased from a wholesaler and housed as a companion bird by an individual owner in Japan showed severe dehydration and anorexia following a week of vomiting and severe diarrhea. A great number of approximately 5 × 4-μm-sized Cryptosporidium oocysts were found in the feces by microscopy. The owlet was administered subcutaneous fluid and intragastric tube feeding for 2 weeks, resulting in improvement of the condition with a decreased number of oocysts in the feces...
June 6, 2018: Parasitology Research
https://www.readbyqxmd.com/read/29876215/photosensitizer-micelles-together-with-ido-inhibitor-enhance-cancer-photothermal-therapy-and-immunotherapy
#15
Jinrong Peng, Yao Xiao, Wenting Li, Qian Yang, Liwei Tan, Yanpeng Jia, Ying Qu, Zhiyong Qian
The therapeutic outcome of photothermal therapy (PTT) remains impeded by the transparent depth of light. Combining PTT with immunotherapy provides strategies to solve this problem. Regulating metabolism-related enzymes is a promising strategy to stimulate immune response. Here, a nanosystem (NLG919/IR780 micelles) with the properties of photothermal conversion and regulation of the tryptophan metabolic pathway is used to suppress the growth of the tumor margin beyond effective PTT and promote tumor PTT and immunotherapy...
May 2018: Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
https://www.readbyqxmd.com/read/29874836/aspirin-derivative-5-bis-3-methylbut-2-enyl-amino-2-hydroxybenzoic-acid-improves-thermotolerance-via-stress-response-proteins-in-caenorhabditis-elegans
#16
Xiao-Bing Huang, Gui-Sheng Wu, Lei-Yu Ke, Xiao-Gang Zhou, Yue-Hu Wang, Huai-Rong Luo
Aging is a major risk factor for many prevalent diseases. Pharmacological intervention to improve the health span and extend the lifespan could be a preventive elixir for aging and age-related diseases. The non-steroid anti-inflammation medicine aspirin was reported to delay aging in Caenorhabditis elegans ( C. elegans ) and mice. We are wondering if the analogues of aspirin could also present antiaging activity. Here, we synthesized several aspirin derivatives and investigated their thermotolerance and antiaging effect in C...
June 5, 2018: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/29872356/serum-heat-shock-protein-65-antibody-levels-are-elevated-but-not-associated-with-disease-activity-in-patients-with-rheumatoid-arthritis-and-ankylosing-spondylitis
#17
Hasan Ulusoy, Gurkan Akgol, Arif Gulkesen, Arzu Kaya, Gul Ayden Kal, Dilara Kaman, Turkan Tuncer
Objectives: Heat-shock proteins (HSPs) have gained increased interest for their role in autoimmune disorders. These proteins are targeted by the immune system in various autoimmune diseases. The aim of this study was to assess the serum heat-shock protein-65 antibody (anti-HSP65) levels and their clinical significance in patients with rheumatoid arthritis (RA) and ankylosing spondylitis (AS). Patients and methods: A total of 30 patients with RA, 30 patients with AS, and 30 healthy controls were enrolled in this study...
2018: Open Access Rheumatology: Research and Reviews
https://www.readbyqxmd.com/read/29869941/heat-shock-proteins-mossb1-mossz1-and-mozuo1-attenuate-momkk1-mediated-cwi-signaling-and-are-important-for-growth-and-pathogenicity-of-magnaporthe-oryzae
#18
Jie Yang, Muxing Liu, Xinyu Liu, Ziyi Yin, Yi Sun, Haifeng Zhang, Xiaobo Zheng, Ping Wang, Zhengguang Zhang
The mitogen-activated protein (MAP) kinase MoMkk1 governs the cell wall integrity (CWI) pathway in the rice blast fungus Magnaporthe oryzae. To understand the underlying mechanism, we have identified MoSsb1 as one of the MoMkk1-interacting proteins. MoSsb1 is a stress-seventy subfamily B (Ssb) protein homolog, sharing high amino acid sequence homology with the 70-kDa heat shock proteins (Hsp70s). Hsp70 proteins are a family of conserved and ubiquitously expressed chaperones that regulate protein biogenesis by promoting protein folding, preventing protein aggregation and controlling protein degradation...
June 5, 2018: Molecular Plant-microbe Interactions: MPMI
https://www.readbyqxmd.com/read/29860142/chronic-toxicity-of-hexabromocyclododecane-hbcd-induced-by-oxidative-stress-and-cell-apoptosis-on-nematode-caenorhabditis-elegans
#19
Xiaoli Wang, Jie Yang, Hui Li, Shu Guo, Muhammad Tariq, Haibo Chen, Chen Wang, Yongdi Liu
In order to gain insights into the chronic effects and mechanisms of hexabromocyclododecane (HBCD), the animal model Caenorhabditis elegans (C. elegans) was chosen for toxicity study. Multiple endpoints, including the physiological (growth and locomotion behaviors), biochemical (reactive oxygen species (ROS) production, lipofuscin accumulation, and cell apoptosis), and molecular (stress-related gene expressions) levels, were tested by chronic exposure for 10 d to low concentrations of HBCD (0.2 nM-200 nM)...
May 25, 2018: Chemosphere
https://www.readbyqxmd.com/read/29859891/partial-loss-of-atp13a2-causes-selective-gliosis-independent-of-robust-lipofuscinosis
#20
Sruti Rayaprolu, Yasin B Seven, John Howard, Colin Duffy, Marcelle Altshuler, Christina Moloney, Benoit I Giasson, Jada Lewis
Loss-of-function mutations in ATP13A2 are associated with three neurodegenerative diseases: a rare form of Parkinson's disease termed Kufor-Rakeb syndrome (KRS), a lysosomal storage disorder termed neuronal ceroid lipofuscinosis (NCL), and a form of hereditary spastic paraplegia (HSP). Furthermore, recent data suggests that heterozygous carriers of mutations in ATP13A2 may confer risk for the development of Parkinson's disease, similar to the association of mutations in glucocerebrosidase (GBA) with both Parkinson's disease and Gaucher's disease, a lysosomal storage disorder...
May 31, 2018: Molecular and Cellular Neurosciences
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