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https://www.readbyqxmd.com/read/29331499/hspb7-is-a-cardioprotective-chaperone-facilitating-sarcomeric-proteostasis
#1
Emily J Mercer, Yi-Fan Lin, Leona Cohen-Gould, Todd Evans
Small heat shock proteins are chaperones with variable mechanisms of action. The function of cardiac family member Hspb7 is unknown, despite being identified through GWAS as a potential cardiomyopathy risk gene. We discovered that zebrafish hspb7 mutants display mild focal cardiac fibrosis and sarcomeric abnormalities. Significant mortality was observed in adult hspb7 mutants subjected to exercise stress, demonstrating a genetic and environmental interaction that determines disease outcome. We identified large sarcomeric proteins FilaminC and Titin as Hspb7 binding partners in cardiac cells...
January 10, 2018: Developmental Biology
https://www.readbyqxmd.com/read/29331354/specificity-in-etiology-of-subtypes-of-bipolar-disorder-evidence-from-a-swedish-population-based-family-study
#2
Jie Song, Ralf Kuja-Halkola, Arvid Sjölander, Sarah E Bergen, Henrik Larsson, Mikael Landén, Paul Lichtenstein
BACKGROUND: Uncertainty remains whether bipolar I disorder (BDI) and bipolar II disorder (BDII) differ etiologically. We used a population-based family sample to examine the etiological boundaries between BDI and BDII by assessing their familial aggregation/coaggregation and by assessing the coaggregation between them and schizophrenia, depression, attention-deficit/hyperactivity disorder, eating disorders, autism spectrum disorder, substance use disorders, anxiety disorders, and personality disorders...
November 20, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/29330310/social-determinants-of-community-level-human-papillomavirus-vaccination-coverage-in-a-school-based-vaccination-programme
#3
Stephen Jean, Malak Elshafei, Alison Buttenheim
OBJECTIVE: To assess social patterns in human papillomavirus (HPV) vaccine coverage in a school-based, government-funded vaccination programme located within a single-payer universal healthcare system. DESIGN: We conducted a cross-sectional analysis of HPV vaccine uptake data for the 2013-2014 school year for 131 local authorities in England, and then evaluated the association between vaccine uptake and socioeconomic status at the aggregate level. DATA SOURCES: HPV vaccination coverage data from Public Health England's vaccine uptake guidance and the UK's March 2011 Census...
January 12, 2018: Sexually Transmitted Infections
https://www.readbyqxmd.com/read/29329839/bioaccessibility-and-potential-bioavailability-of-phenolic-compounds-from-achenes-as-a-new-target-for-strawberry-breeding-programs
#4
María Teresa Ariza, Patricia Reboredo-Rodríguez, Lucía Cervantes, Carmen Soria, Elsa Martínez-Ferri, Carmen González-Barreiro, Beatriz Cancho-Grande, Maurizio Battino, Jesús Simal-Gándara
Strawberry is a major natural source of bioactive compounds. Botanically, strawberry is an aggregate fruit consisting of a fleshy floral receptacle that bears a cluster of real dry fruits (achenes). Existing knowledge on the phenolic composition of achenes and its contribution to that of the whole fruit is limited. Also, the gastric and intestinal bioavailability of phenols is poorly known. In this work, a combination of spectrophotometric and HPLC-DAD methods was used to analyse the phenolic composition of whole fruits and achenes before and after in vitro digestion...
May 15, 2018: Food Chemistry
https://www.readbyqxmd.com/read/29329392/risk-of-pancreatic-cancer-associated-with-family-history-of-cancer-and-other-medical-conditions-by-accounting-for-smoking-among-relatives
#5
E Molina-Montes, P Gomez-Rubio, M Márquez, M Rava, M Löhr, C W Michalski, X Molero, A Farré, J Perea, W Greenhalf, L Ilzarbe, M O'Rorke, A Tardón, T Gress, V M Barberà, T Crnogorac-Jurcevic, E Domínguez-Muñoz, L Muñoz-Bellvís, J Balsells, E Costello, J Huang, M Iglesias, J Kleeff, Bo Kong, J Mora, L Murray, D O'Driscoll, I Poves, A Scarpa, W Ye, M Hidalgo, L Sharp, A Carrato, F X Real, N Malats
Background: Family history (FH) of pancreatic cancer (PC) has been associated with an increased risk of PC, but little is known regarding the role of inherited/environmental factors or that of FH of other comorbidities in PC risk. We aimed to address these issues using multiple methodological approaches. Methods: Case-control study including 1431 PC cases and 1090 controls and a reconstructed-cohort study (N = 16 747) made up of their first-degree relatives (FDR)...
January 10, 2018: International Journal of Epidemiology
https://www.readbyqxmd.com/read/29325986/the-challenge-of-rare-diseases
#6
James K Stoller
Rare diseases pose particular challenges to patients who are affected, to the clinicians who care for them, and to the investigators who study their conditions. Though individually uncommon, rare diseases are common in the aggregate, with the ∼7000 described rare diseases affecting 25-30 million Americans. Challenges posed to affected individuals and their families largely regard being diagnosed; receiving optimal care; and affording disease-specific medications. Challenges facing clinicians who care for affected individuals include gaining knowledge and experience in caring for such patients, and the availability of local experts and of expert guidelines...
January 8, 2018: Chest
https://www.readbyqxmd.com/read/29325903/gata4-loss-of-function-mutation-and-the-congenitally-bicuspid-aortic-valve
#7
Ruo-Gu Li, Ying-Jia Xu, Juan Wang, Xing-Yuan Liu, Fang Yuan, Ri-Tai Huang, Song Xue, Li Li, Hua Liu, Yan-Jie Li, Xin-Kai Qu, Hong-Yu Shi, Min Zhang, Xing-Biao Qiu, Yi-Qing Yang
Aggregating evidence suggests that genetic determinants play a pivotal role in the pathogenesis of the congenitally bicuspid aortic valve (BAV). BAV is of pronounced genetic heterogeneity, and the genetic components underlying BAV in an overwhelming majority of patients remain elusive. In the current study, the whole coding exons and adjacent introns, as well as 5' and 3' untranslated regions of the GATA4 gene, which codes for a zinc-finger transcription factor crucial for the normal development of the aortic valve, were screened by direct sequencing in 150 index patients with congenital BAV...
November 23, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/29325609/the-cag-polyglutamine-repeat-diseases-a-clinical-molecular-genetic-and-pathophysiologic-nosology
#8
Colleen A Stoyas, Albert R La Spada
Throughout the genome, unstable tandem nucleotide repeats can expand to cause a variety of neurologic disorders. Expansion of a CAG triplet repeat within a coding exon gives rise to an elongated polyglutamine (polyQ) tract in the resultant protein product, and accounts for a unique category of neurodegenerative disorders, known as the CAG-polyglutamine repeat diseases. The nine members of the CAG-polyglutamine disease family include spinal and bulbar muscular atrophy (SBMA), Huntington disease, dentatorubral pallidoluysian atrophy, and six spinocerebellar ataxias (SCA 1, 2, 3, 6, 7, and 17)...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29324282/influence-of-glycan-modification-on-igg1-biochemical-and-biophysical-properties
#9
Jake W Pawlowski, Adriana Bajardi-Taccioli, Damian Houde, Marina Feschenko, Tyler Carlage, Igor A Kaltashov
Monoclonal antibodies (mAbs) are the fastest growing class of biopharmaceuticals. The specific therapeutic tasks vary among different mAbs, which may include neutralization of soluble targets, activation of cytotoxic pathways, targeted drug delivery, and diagnostic imaging. The specific therapeutic goal defines which interactions of the antibody with its multiple physiological partners are most critical for function, and which ones are irrelevant or indeed detrimental. In this work, we explored the ability of the glycan chains to affect IgG1 interaction with two key receptor families, FcRn and γ-type Fc receptors, as well as the influence of glycan composition on the conformation and stability of the antibody molecule...
January 3, 2018: Journal of Pharmaceutical and Biomedical Analysis
https://www.readbyqxmd.com/read/29321600/fis-is-a-global-regulator-critical-for-modulation-of-virulence-factor-production-and-pathogenicity-of-dickeya-zeae
#10
Mingfa Lv, Yufan Chen, Lisheng Liao, Zhibin Liang, Zurong Shi, Yingxin Tang, Sixuan Ye, Jianuan Zhou, Lianhui Zhang
Dickeya zeae is the causal agent of rice foot rot disease, which has recently become a great threat to rice planting countries and regions. The pathogen produces a family of phytotoxins named zeamines that is critical for bacterial virulence, but little is known about the signaling pathways and regulatory mechanisms that govern zeamine production. In this study, we showed that a conserved transcriptional regulator Fis is involved in the regulation of zeamine production in D. zeae strain EC1. Deletion mutants were markedly attenuated in the virulence against rice seed germination...
January 10, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29320387/identification-of-inherited-retinal-disease-associated-genetic-variants-in-11-candidate-genes
#11
Galuh D N Astuti, L Ingeborgh van den Born, M Imran Khan, Christian P Hamel, Béatrice Bocquet, Gaël Manes, Mathieu Quinodoz, Manir Ali, Carmel Toomes, Martin McKibbin, Mohammed E El-Asrag, Lonneke Haer-Wigman, Chris F Inglehearn, Graeme C M Black, Carel B Hoyng, Frans P M Cremers, Susanne Roosing
Inherited retinal diseases (IRDs) display an enormous genetic heterogeneity. Whole exome sequencing (WES) recently identified genes that were mutated in a small proportion of IRD cases. Consequently, finding a second case or family carrying pathogenic variants in the same candidate gene often is challenging. In this study, we searched for novel candidate IRD gene-associated variants in isolated IRD families, assessed their causality, and searched for novel genotype-phenotype correlations. Whole exome sequencing was performed in 11 probands affected with IRDs...
January 10, 2018: Genes
https://www.readbyqxmd.com/read/29316957/evaluating-the-breast-cancer-predisposition-role-of-rare-variants-in-genes-associated-with-low-penetrance-breast-cancer-risk-snps
#12
Na Li, Simone M Rowley, Ella R Thompson, Simone McInerny, Lisa Devereux, Kaushalya C Amarasinghe, Magnus Zethoven, Richard Lupat, David Goode, Jason Li, Alison H Trainer, Kylie L Gorringe, Paul A James, Ian G Campbell
BACKGROUND: Genome-wide association studies (GWASs) have identified numerous single-nucleotide polymorphisms (SNPs) associated with small increases in breast cancer risk. Studies to date suggest that some SNPs alter the expression of the associated genes, which potentially mediates risk modification. On this basis, we hypothesised that some of these genes may be enriched for rare coding variants associated with a higher breast cancer risk. METHODS: The coding regions and exon-intron boundaries of 56 genes that have either been proposed by GWASs to be the regulatory targets of the SNPs and/or located < 500 kb from the risk SNPs were sequenced in index cases from 1043 familial breast cancer families that previously had negative test results for BRCA1 and BRCA2 mutations and 944 population-matched cancer-free control participants from an Australian population...
January 9, 2018: Breast Cancer Research: BCR
https://www.readbyqxmd.com/read/29315388/galectin-3-and-cancer-stemness
#13
Pratima Nangia-Makker, Victor Hogan, Avraham Raz
Over the last few decades galectin-3, a carbohydrate binding protein, with affinity for N-acetyllactosamine residues, has been unique due to the regulatory roles it performs in processes associated with tumor progression and metastasis such as cell proliferation, homotypic/ heterotypic aggregation, dynamic cellular transformation, migration and invasion, survival and apoptosis. Structure-function association of galectin-3 reveals that it consists of a short amino terminal motif, which regulates its nuclear-cytoplasmic shuttling; a collagen α-like domain, susceptible to cleavage by matrix metalloproteases and prostate specific antigen (PSA); accountable for its oligomerization and lattice formation, and a carbohydrate recognition/binding domain containing the anti-death motif of the Bcl2 protein family...
January 5, 2018: Glycobiology
https://www.readbyqxmd.com/read/29312536/the-shared-and-specific-mechanism-of-four-autoimmune-diseases
#14
Meiwei Luan, Zhenwei Shang, Yanbo Teng, Xinren Chen, Mingming Zhang, Hongchao Lv, Ruijie Zhang
Interaction between genetic and epigenetic mechanisms may lead to autoimmune diseases. The features of these diseases show familial aggregation. The generality and specificity are keys to studying pathogenesis and etiology of them. This research integrated data of genetics and epigenetics, to find disease-related genes based on the levels of expression and regulation, and explored then to the shared and specific mechanism of them by analyzing shared and specific pathways of common four autoimmune diseases, including Type 1 Diabetes Mellitus (T1D), Multiple Sclerosis (MS), Rheumatoid Arthritis (RA) and Systemic Lupus Erythematosus (SLE)...
December 12, 2017: Oncotarget
https://www.readbyqxmd.com/read/29305061/a-refined-concept-alpha-synuclein-dysregulation-disease
#15
REVIEW
Hideki Mochizuki, Chi-Jing Choong, Eliezer Masliah
Alpha synuclein (αSyn) still remains a mysterious protein even two decades after SNCA encoding it was identified as the first causative gene of familial Parkinson's disease (PD). Accumulation of αSyn causes α-synucleinopathies including PD, dementia with Lewy bodies (DLB) and multiple system atrophy (MSA). Recent advances in therapeutic approaches offer new antibody-, vaccine-, antisense-oligonucleotide- and small molecule-based options to reduce αSyn protein levels and aggregates in patient's brain. Gathering research information of other neurological disease particularly Alzheimer's disease, recent disappointment of an experimental amyloid plaques busting antibody in clinical trials underscores the difficulty of treating people who show even mild dementia as damage in their brain may already be too extensive...
January 2, 2018: Neurochemistry International
https://www.readbyqxmd.com/read/29301563/factors-related-to-negative-feelings-experienced-by-emergency-department-patients-and-accompanying-persons-an-israeli-study
#16
Simha F Landau, Judy Bendalak, Gila Amitay, Ohad Marcus
BACKGROUND: Studies on hospital violence have emphasized the importance of staff- service recipient interaction in leading to violent incidents. These incidents are the extreme result of service recipients' frustration and anger in their interaction with staff. The aim of this study was to analyze factors related to negative experiences of emergency department (ED) patients and accompanying persons in Israeli hospitals. METHODS: Structured interviews with 692 participants in seven major general Israeli hospitals: 322 patients and 370 accompanying persons...
January 4, 2018: Israel Journal of Health Policy Research
https://www.readbyqxmd.com/read/29299251/the-more-the-merrier-conspecific-density-improves-performance-of-gregarious-larvae-and-reduces-susceptibility-to-a-pupal-parasitoid
#17
Elena Rosa, Saskya van Nouhuys, Marjo Saastamoinen
Aggregation can confer advantages in animal foraging, defense, and thermoregulation. There is a tight connection between the evolution of insect sociality and a highly effective immune system, presumably to inhibit rapid disease spread in a crowded environment. This connection is less evident for animals that spend only part of their life cycle in a social environment, such as noneusocial gregarious insects. Our aim was to elucidate the effects of group living by the gregarious larvae of the Glanville fritillary butterfly with respect to individual performance, immunity, and susceptibility to a parasitoid...
December 2017: Ecology and Evolution
https://www.readbyqxmd.com/read/29298892/hspb1-and-hsc70-chaperones-engage-distinct-tau-species-and-have-different-inhibitory-effects-on-amyloid-formation
#18
Hannah E R Baughman, Amanda F Clouser, Rachel E Klevit, Abhinav Nath
The microtubule-associated protein tau forms insoluble, amyloid-type aggregates in various dementias, most notably Alzheimer's disease. Cellular chaperone proteins play important roles in maintaining protein solubility and preventing aggregation in the crowded cellular environment. While tau is known to interact with numerous chaperones, it remains unclear how these chaperones function mechanistically to prevent tau aggregation and how chaperones from different classes compare in terms of mechanism. Here, we focused on the small heat shock protein HspB1 and the constitutive chaperone Hsc70 (also known as HspA8), and report how each chaperone interacts with tau to prevent its fibril formation...
January 3, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29297835/microsporidiosis-in-peppermint-shrimp-decapoda-hippolytidae-lysmata-spp
#19
Elise E B LaDouceur, Brian G Murphy
Microsporidia are a diverse, parasitic phylum closely related to fungi. They infect a broad range of host species and tissues. This report describes microsporidiosis infection in a captive, wild-caught peppermint shrimp ( Lysmata spp.). The animal was found dead in its enclosure approximately 5 days after molting. Grossly, the skeletal musculature was diffusely swollen, opaque, and pale tan to white. Histologically, skeletal myofibers were replaced by large aggregates of sporophorous vesicles containing up to eight spores and earlier stages of sporogony...
December 2017: Journal of Zoo and Wildlife Medicine: Official Publication of the American Association of Zoo Veterinarians
https://www.readbyqxmd.com/read/29296914/severe-platelet-dysfunction-in-nhl-patients-receiving-ibrutinib-is-absent-in-patients-receiving-acalabrutinib
#20
Alexander P Bye, Amanda J Unsworth, Michael J Desborough, Catherine A T Hildyard, Niamh Appleby, David Bruce, Neline Kriek, Sophie H Nock, Tanya Sage, Craig E Hughes, Jonathan M Gibbins
The Bruton tyrosine kinase (Btk) inhibitor ibrutinib induces platelet dysfunction and causes increased risk of bleeding. Off-target inhibition of Tec is believed to contribute to platelet dysfunction and other side effects of ibrutinib. The second-generation Btk inhibitor acalabrutinib was developed with improved specificity for Btk over Tec. We investigated platelet function in patients with non-Hodgkin lymphoma (NHL) receiving ibrutinib or acalabrutinib by aggregometry and by measuring thrombus formation on collagen under arterial shear...
December 12, 2017: Blood Advances
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