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https://www.readbyqxmd.com/read/28454348/effects-of-ptcs-on-nonsense-mediated-mrna-decay-are-dependent-on-ptc-location
#1
Heegyum Moon, Xuexiu Zheng, Tiing Jen Loh, Ha Na Jang, Yongchao Liu, Da-Woon Jung, Darren R Williams, Haihong Shen
The récepteur d'origine nantais (RON) gene is a proto-oncogene that is responsible for encoding the human macrophage-stimulating protein (MSP) 1 receptor. MSP activation induces RON-mediated cell dissociation, migration and matrix invasion. Isoforms of RON that exclude exons 5 and 6 encode the RONΔ160 protein, which promotes cell transformation in vitro and tumor metastasis in vivo. Premature termination codons (PTCs) in exons activate the nonsense-mediated mRNA decay (NMD) signaling pathway. The present study demonstrated that PTCs at various locations in the alternative exons 5 and 6 could induce NMD of the majority of the spliced, or partially spliced, isoforms...
March 2017: Oncology Letters
https://www.readbyqxmd.com/read/28453874/association-of-r279q-and-c1562t-polymorphisms-of-matrix-metalloproteinase-9-gene-and-increased-risk-for-myocardial-infarction-in-patients-with-premature-coronary-artery-disease
#2
Mehrdad Sheikhvatan, Mohammad Ali Boroumand, Mehrdad Behmanesh, Shayan Ziaee
BACKGROUND: A number of matrix metalloproteinase (MMP) gene polymorphisms has been identified which may be probably related to premature myocardial infarction (MI). OBJECTIVE: We assessed the relationship between the two polymorphisms of the MMP9 gene including R279Q and C1562T and occurrence of premature MI. METHODS: The study has two phases including a case-control study as the first phase and cohort study as the second phase. Initially, 1000 patients with premature coronary artery disease were classified into MI and non-MI groups...
April 28, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28453658/androgen-receptor-agonists-increase-lean-mass-improve-cardiopulmonary-functions-and-extend-survival-in-preclinical-models-of-duchenne-muscular-dystrophy
#3
Suriyan Ponnusamy, Ryan D Sullivan, Dahui You, Nadeem Zafar, Chuan He Yang, Thirumagal Thiyagarajan, Daniel L Johnson, Maron L Barrett, Nikki J Koehler, Mayra Star, Erin J Stephenson, Dave Bridges, Stephania A Cormier, Lawrence M Pfeffer, Ramesh Narayanan
Duchenne muscular dystrophy (DMD) is a neuromuscular disease that predominantly affects boys as a result of mutation(s) in the dystrophin gene. DMD is characterized by musculoskeletal and cardiopulmonary complications, resulting in shorter life-span. Boys afflicted by DMD typically exhibit symptoms within 3-5 years of age and declining physical functions before attaining puberty. We hypothesized that rapidly deteriorating health of pre-pubertal boys with DMD could be due to diminished anabolic actions of androgens in muscle, and that intervention with an androgen receptor (AR) agonist will reverse musculoskeletal complications and extend survival...
April 27, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28453508/viable-options-for-fertility-preservation-in-breast-cancer-patients-a-focus-on-latin-america
#4
Matteo Lambertini, Oranite Goldrat, Regina Barragan-Carrillo, Giulia Viglietti, Isabelle Demeestere, Cynthia Villarreal-Garza
Thanks to the improved survival outcomes observed in recent years, a growing attention has been given to the quality of life issues faced by young women with breast cancer such as fertility preservation and concerns related to future pregnancies. However, several challenges remain for young women with breast cancer considering undergoing fertility preservation strategies. Further specific issues on this regard should be taken into account in Latin America, where patients and physicians face particular barriers that hinder the routine adoption of this practice...
March 2017: Revista de Investigación Clínica; Organo del Hospital de Enfermedades de la Nutrición
https://www.readbyqxmd.com/read/28453370/school-absence-and-productivity-outcomes-associated-with-childhood-asthma-in-the-usa
#5
Patrick Sullivan, Vahram G Ghushchyan, Prakash Navaratnam, Howard S Friedman, Abhisek Kavati, Benjamin Ortiz, Bob Lanier
BACKGROUND: Previous studies have examined the association between childhood asthma and lost productivity; however, more data are needed to understand its impact. METHODS: This was a retrospective analysis of cross-sectional data in the nationally representative 2007-2013 Medical Expenditure Panel Survey (MEPS). School-aged children (SAC), children (age 6-11), and adolescents (age 12-17) with asthma were compared to those without asthma to examine annual missed school days...
April 28, 2017: Journal of Asthma: Official Journal of the Association for the Care of Asthma
https://www.readbyqxmd.com/read/28453362/a-novel-mutation-in-the-dominantly-inherited-topors-gene-supports-haploinsufficiency-as-the-mechanism-of-retinitis-pigmentosa
#6
Marta Latasiewicz, Anna Paola Salvetti, Robert E MacLaren
BACKGROUND: Inherited retinal degenerations are a major cause of untreatable blindness in the younger age group. Recent advances in gene therapy using adeno-associated viral (AAV) vectors have raised the possibility of slowing or stopping retinal degenerations with gene replacement in cases of gene deficiency. MATERIALS AND METHODS: In this report, we present a family with autosomal dominant retinitis pigmentosa. A screen for common ADRP genes was performed with 105 genes targeted...
April 28, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28449090/alcohol-consumption-sinus-tachycardia-and-cardiac-arrhythmias-at-the-munich-octoberfest-results-from-the-munich-beer-related-electrocardiogram-workup-study-munichbrew
#7
Stefan Brunner, Rebecca Herbel, Cathrine Drobesch, Annette Peters, Steffen Massberg, Stefan Kääb, Moritz F Sinner
Aims: Alcohol is a risk factor for cardiac arrhythmias. Retrospective analyses suggest supraventricular arrhythmias consecutive to acute alcohol consumption, but prospective data are limited. We intended to prospectively associate acute alcohol consumption with cardiac arrhythmias. Methods and results: At the 2015 Munich Octoberfest, we enrolled 3028 voluntary participants who received a smartphone-based ECG and breath alcohol concentration (BAC) measurements. ECGs were analysed for cardiac arrhythmias (sinus tachycardia, sinus arrhythmia, premature atrial/ventricular complexes, atrial fibrillation/flutter) and respiratory sinus arrhythmia...
April 25, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28448979/combination-of-correctors-rescues-cftr-transmembrane-domain-mutants-by-mitigating-their-interactions-with-proteostasis
#8
Miquéias Lopes-Pacheco, Clément Boinot, Inna Sabirzhanova, Daniele Rapino, Liudmila Cebotaru
BACKGROUND/AIMS: Premature degradation of mutated cystic fibrosis transmembrane conductance regulator (CFTR) protein causes cystic fibrosis (CF), the commonest Mendelian disease in Caucasians. Despite recent advances in precision medicines for CF patients, many CFTR mutants have not been characterized and the effects of these new therapeutic approaches are still unclear for those mutants. METHODS: Cells transfected or stably expressing four CFTR transmembrane-domain mutants (G85E, E92K, L1077P, and M1101K) were used to: 1) characterize the mutants according to their protein expression, thermal sensitivity, and degradation pathways; 2) evaluate the effects of correctors in rescuing them; and 3) explore the effects of correctors on CFTR interactions with proteostasis components...
April 25, 2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/28448821/the-implications-of-war-captivity-and-long-term-psychopathology-trajectories-for-telomere-length
#9
Zahava Solomon, Noga Tsur, Yafit Levin, Orit Uziel, Meir Lahav, Avi Ohry
BACKGROUND: Previous findings have demonstrated the link between trauma, its psychopathological aftermath and cellular aging, as reflected in telomere length. However, as long-term examinations of psychopathology following trauma are scarce, very little is known regarding the repercussions of depression and PTSD trajectories of psychopathology for telomeres. The current study examined the implications of war captivity and depression/PTSD trajectories on telomere length. METHODS: Ninety-nine former prisoners of war (ex-POWs) from the 1973 Yom Kippur War were evaluated for depression and PTSD at 18, 30, 35 and 42 years after the war...
April 12, 2017: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/28448664/assessment-of-lower-doses-of-intravitreous-bevacizumab-for-retinopathy-of-prematurity-a-phase-1-dosing-study
#10
David K Wallace, Raymond T Kraker, Sharon F Freedman, Eric R Crouch, Amy K Hutchinson, Amit R Bhatt, David L Rogers, Michael B Yang, Kathryn M Haider, Deborah K VanderVeen, R Michael Siatkowski, Trevano W Dean, Roy W Beck, Michael X Repka, Lois E Smith, William V Good, Mary Elizabeth Hartnett, Lingkun Kong, Jonathan M Holmes
Importance: Intravitreous bevacizumab (0.25 to 0.625 mg) is increasingly used to treat type 1 retinopathy of prematurity (ROP), but there remain concerns about systemic toxicity. A much lower dose may be effective while reducing systemic risk. Objective: To find a dose of intravitreous bevacizumab that was lower than previously used for severe ROP, was effective in this study, and could be tested in future larger studies. Design, Setting, and Participants: Between May 2015 and September 2016, 61 premature infants with type 1 ROP in 1 or both eyes were enrolled in a masked, multicenter, phase 1 dose de-escalation study...
April 27, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28448614/obtaining-retrotransposon-sequences-analysis-of-their-genomic-distribution-and-use-of-retrotransposon-derived-genetic-markers-in-lentil-lens-culinaris-medik
#11
Rita Rey-Baños, Luis E Sáenz de Miera, Pedro García, Marcelino Pérez de la Vega
Retrotransposons with long terminal repeats (LTR-RTs) are widespread mobile elements in eukaryotic genomes. We obtained a total of 81 partial LTR-RT sequences from lentil corresponding to internal retrotransposon components and LTRs. Sequences were obtained by PCR from genomic DNA. Approximately 37% of the LTR-RT internal sequences presented premature stop codons, pointing out that these elements must be non-autonomous. LTR sequences were obtained using the iPBS technique which amplifies sequences between LTR-RTs...
2017: PloS One
https://www.readbyqxmd.com/read/28448551/characterization-of-physiological-defects-in-adult-sirt6-mice
#12
Victoria Peshti, Alexey Obolensky, Liat Nahum, Yariv Kanfi, Moran Rathaus, Maytal Avraham, Simon Tinman, Fredrick W Alt, Eyal Banin, Haim Y Cohen
The NAD+-dependent SIRT6 deacetylase was shown to be a major regulator of lifespan and healthspan. Mice deficient for SIRT6 develop a premature aging phenotype and metabolic defects, and die before four weeks of age. Thus, the effect of SIRT6 deficiency in adult mice is unknown. Here we show that SIRT6-/- mice in mixed 129/SvJ/BALB/c background reach adulthood, allowing examination of SIRT6-related metabolic and developmental phenotypes in adult mice. In this mixed background, at 200 days of age, more than 80% of the female knock-out mice were alive whereas only 10% of male knock-out mice survived...
2017: PloS One
https://www.readbyqxmd.com/read/28448498/personalized-glucose-forecasting-for-type-2-diabetes-using-data-assimilation
#13
David J Albers, Matthew Levine, Bruce Gluckman, Henry Ginsberg, George Hripcsak, Lena Mamykina
Type 2 diabetes leads to premature death and reduced quality of life for 8% of Americans. Nutrition management is critical to maintaining glycemic control, yet it is difficult to achieve due to the high individual differences in glycemic response to nutrition. Anticipating glycemic impact of different meals can be challenging not only for individuals with diabetes, but also for expert diabetes educators. Personalized computational models that can accurately forecast an impact of a given meal on an individual's blood glucose levels can serve as the engine for a new generation of decision support tools for individuals with diabetes...
April 2017: PLoS Computational Biology
https://www.readbyqxmd.com/read/28448205/practicing-maternal-virtues-prematurely-the-phenomenology-of-maternal-identity-in-medically-high-risk-pregnancy
#14
Laura Curran, Judith McCoyd, Shari Munch, Bonnie Wilkenfeld
In this study, we examine the phenomenology of maternal identity development among U.S. women hospitalized with medically high risk pregnancies (MHRP). We conducted 16 in-depth interviews with women and find that they drew on culturally normative notions of maternal nurture, worry, and sacrifice to construct maternal identity in the context of MHRP. Based on our findings, we suggest that MHRP shapes women's sense of a unique connection to and distinctive cognitive representations of their fetus that are facilitated by the use of technology...
April 27, 2017: Health Care for Women International
https://www.readbyqxmd.com/read/28448044/generation-of-ipsc-derived-human-brain-organoids-to-model-early-neurodevelopmental-disorders
#15
Elke Gabriel, Jay Gopalakrishnan
The restricted availability of suitable in vitro models that can reliably represent complex human brain development is a significant bottleneck that limits the translation of basic brain research into clinical application. While induced pluripotent stem cells (iPSCs) have replaced the ethically questionable human embryonic stem cells, iPSC-based neuronal differentiation studies remain descriptive at the cellular level but fail to adequately provide the details that could be derived from a complex, 3D human brain tissue...
April 14, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28447229/pathogenic-role-and-therapeutic-potential-of-pleiotrophin-in-mouse-models-of-ocular-vascular-disease
#16
Weiwen Wang, Michelle E LeBlanc, Xiuping Chen, Ping Chen, Yanli Ji, Megan Brewer, Hong Tian, Samantha R Spring, Keith A Webster, Wei Li
Angiogenic factors play an important role in the pathogenesis of diabetic retinopathy (DR), neovascular age-related macular degeneration (nAMD) and retinopathy of prematurity (ROP). Pleiotrophin, a well-known angiogenic factor, was recently reported to be upregulated in the vitreous fluid of patients with proliferative DR (PDR). However, its pathogenic role and therapeutic potential in ocular vascular diseases have not been defined in vivo. Here using corneal pocket assays, we demonstrated that pleiotrophin induced angiogenesis in vivo...
April 26, 2017: Angiogenesis
https://www.readbyqxmd.com/read/28447221/deleterious-abca7-mutations-and-transcript-rescue-mechanisms-in-early-onset-alzheimer-s-disease
#17
Arne De Roeck, Tobi Van den Bossche, Julie van der Zee, Jan Verheijen, Wouter De Coster, Jasper Van Dongen, Lubina Dillen, Yalda Baradaran-Heravi, Bavo Heeman, Raquel Sanchez-Valle, Albert Lladó, Benedetta Nacmias, Sandro Sorbi, Ellen Gelpi, Oriol Grau-Rivera, Estrella Gómez-Tortosa, Pau Pastor, Sara Ortega-Cubero, Maria A Pastor, Caroline Graff, Håkan Thonberg, Luisa Benussi, Roberta Ghidoni, Giuliano Binetti, Alexandre de Mendonça, Madalena Martins, Barbara Borroni, Alessandro Padovani, Maria Rosário Almeida, Isabel Santana, Janine Diehl-Schmid, Panagiotis Alexopoulos, Jordi Clarimon, Alberto Lleó, Juan Fortea, Magda Tsolaki, Maria Koutroumani, Radoslav Matěj, Zdenek Rohan, Peter De Deyn, Sebastiaan Engelborghs, Patrick Cras, Christine Van Broeckhoven, Kristel Sleegers
Premature termination codon (PTC) mutations in the ATP-Binding Cassette, Sub-Family A, Member 7 gene (ABCA7) have recently been identified as intermediate-to-high penetrant risk factor for late-onset Alzheimer's disease (LOAD). High variability, however, is observed in downstream ABCA7 mRNA and protein expression, disease penetrance, and onset age, indicative of unknown modifying factors. Here, we investigated the prevalence and disease penetrance of ABCA7 PTC mutations in a large early onset AD (EOAD)-control cohort, and examined the effect on transcript level with comprehensive third-generation long-read sequencing...
April 27, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28447205/treatment-with-geranylgeranylacetone-induces-heat-shock-protein-70-and-attenuates-neonatal-hyperoxic-lung-injury-in-a-model-of-bronchopulmonary-dysplasia
#18
Shuko Tokuriki, Aiko Igarashi, Takashi Okuno, Genrei Ohta, Hironobu Naiki, Yusei Ohshima
PURPOSE: Bronchopulmonary dysplasia (BPD) is a respiratory complication characterized by abnormal alveolar development in premature infants. Geranylgeranylacetone (GGA) can induce heat shock protein (HSP) 70, which has cytoprotective effects against various stressors. Here, we investigated whether GGA protected neonatal lungs from hyperoxic stress in a murine BPD model, and measured the serum HSP70 levels in preterm humans treated with oxygen. METHODS: Newborn mice were exposed to >90% oxygen and administered GGA or vehicle alone orally on days 1, 2, and 3 of life...
April 26, 2017: Lung
https://www.readbyqxmd.com/read/28447099/endogenous-developmental-endothelial-locus-1-limits-ischaemia-related-angiogenesis-by-blocking-inflammation
#19
Anne Klotzsche-von Ameln, Sebastian Cremer, Jedrzej Hoffmann, Peggy Schuster, Sherif Khedr, Irina Korovina, Maria Troullinaki, Ales Neuwirth, David Sprott, Antonios Chatzigeorgiou, Matina Economopoulou, Alessia Orlandi, Andreas Hain, Andreas M Zeiher, Andreas Deussen, George Hajishengallis, Stefanie Dimmeler, Triantafyllos Chavakis, Emmanouil Chavakis
We have recently identified endothelial cell-secreted developmental endothelial locus-1 (Del-1) as an endogenous inhibitor of β2-integrin-dependent leukocyte infiltration. Del-1 was previously also implicated in angiogenesis. Here, we addressed the role of endogenously produced Del-1 in ischaemia-related angiogenesis. Intriguingly, Del-1-deficient mice displayed increased neovascularisation in two independent ischaemic models (retinopathy of prematurity and hind-limb ischaemia), as compared to Del-1-proficient mice...
April 27, 2017: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/28447081/plasma-treatment-effect-on-polymer-buried-interfacial-structure-and-property
#20
Nathan W Ulrich, John Andre, Jaimal Williamson, Kang-Wook Lee, Zhan Chen
Adhesion is important in many industrial applications including those in the microelectronics industry. Flip-chip assemblies commonly utilize epoxy underfills to promote reliability and the buried interfacial structure of underfills is crucial to device lifetime. Poor adhesion at this interface can cause premature device failure. One method to increase adhesion strength is to plasma treat the substrate attached to underfills, however, the mechanism of this increase in adhesion strength has not been thoroughly investigated at the molecular level in situ, because it is difficult to probe a buried interface where the adhesion occurs...
April 27, 2017: Physical Chemistry Chemical Physics: PCCP
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