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https://www.readbyqxmd.com/read/29469822/autosomal-recessive-noonan-syndrome-associated-with-biallelic-lztr1-variants
#1
Jennifer J Johnston, Jasper J van der Smagt, Jill A Rosenfeld, Alistair T Pagnamenta, Abdulrahman Alswaid, Eva H Baker, Edward Blair, Guntram Borck, Julia Brinkmann, William Craigen, Vu Chi Dung, Lisa Emrick, David B Everman, Koen L van Gassen, Suleyman Gulsuner, Margaret H Harr, Mahim Jain, Alma Kuechler, Kathleen A Leppig, Donna M McDonald-McGinn, Ngoc Thi Bich Can, Amir Peleg, Elizabeth R Roeder, R Curtis Rogers, Lena Sagi-Dain, Julie C Sapp, Alejandro A Schäffer, Denny Schanze, Helen Stewart, Jenny C Taylor, Nienke E Verbeek, Magdalena A Walkiewicz, Elaine H Zackai, Christiane Zweier, Martin Zenker, Brendan Lee, Leslie G Biesecker
PurposeTo characterize the molecular genetics of autosomal recessive Noonan syndrome.MethodsFamilies underwent phenotyping for features of Noonan syndrome in children and their parents. Two multiplex families underwent linkage analysis. Exome, genome, or multigene panel sequencing was used to identify variants. The molecular consequences of observed splice variants were evaluated by reverse-transcription polymerase chain reaction.ResultsTwelve families with a total of 23 affected children with features of Noonan syndrome were evaluated...
February 22, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29463710/optically-functional-isoxanthopterin-crystals-in-the-mirrored-eyes-of-decapod-crustaceans
#2
Benjamin A Palmer, Anna Hirsch, Vlad Brumfeld, Eliahu D Aflalo, Iddo Pinkas, Amir Sagi, Shaked Rosenne, Dan Oron, Leslie Leiserowitz, Leeor Kronik, Steve Weiner, Lia Addadi
The eyes of some aquatic animals form images through reflective optics. Shrimp, lobsters, crayfish, and prawns possess reflecting superposition compound eyes, composed of thousands of square-faceted eye units (ommatidia). Mirrors in the upper part of the eye (the distal mirror) reflect light collected from many ommatidia onto the photosensitive elements of the retina, the rhabdoms. A second reflector, the tapetum, underlying the retina, back-scatters dispersed light onto the rhabdoms. Using microCT and cryo-SEM imaging accompanied by in situ micro-X-ray diffraction and micro-Raman spectroscopy, we investigated the hierarchical organization and materials properties of the reflective systems at high resolution and under close-to-physiological conditions...
February 20, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29431208/rbl-cells-as-models-for-in-vitro-studies-of-mast-cells-and-basophils
#3
REVIEW
Franco H Falcone, Daniel Wan, Nafal Barwary, Ronit Sagi-Eisenberg
Since their establishment in 1981, RBL-2H3 cells have been widely used as a mast cell (MC) model. Their ability to be easily grown in culture in large amounts, their responsiveness to FcεRI-mediated triggers and the fact that they can be genetically manipulated, have provided advantages over primary MCs, in particular for molecular studies relying on genetic screening. Furthermore, the ability to generate clones that stably express proteins of interest, for example, a human receptor, have marked the RBL cells as an attractive MC model for drug screening...
March 2018: Immunological Reviews
https://www.readbyqxmd.com/read/29365063/de-novo-mutations-in-grin1-cause-extensive-bilateral-polymicrogyria
#4
Andrew E Fry, Katherine A Fawcett, Nathanel Zelnik, Hongjie Yuan, Belinda A N Thompson, Lilach Shemer-Meiri, Thomas D Cushion, Hood Mugalaasi, David Sims, Neil Stoodley, Seo-Kyung Chung, Mark I Rees, Chirag V Patel, Louise A Brueton, Valérie Layet, Fabienne Giuliano, Michael P Kerr, Ehud Banne, Vardiella Meiner, Tally Lerman-Sagie, Katherine L Helbig, Laura H Kofman, Kristin M Knight, Wenjuan Chen, Varun Kannan, Chun Hu, Hirofumi Kusumoto, Jin Zhang, Sharon A Swanger, Gil H Shaulsky, Ghayda M Mirzaa, Alison M Muir, Heather C Mefford, William B Dobyns, Amanda B Mackenzie, Jonathan G L Mullins, Johannes R Lemke, Nadia Bahi-Buisson, Stephen F Traynelis, Heledd F Iago, Daniela T Pilz
Polymicrogyria is a malformation of cortical development. The aetiology of polymicrogyria remains poorly understood. Using whole-exome sequencing we found de novo heterozygous missense GRIN1 mutations in 2 of 57 parent-offspring trios with polymicrogyria. We found nine further de novo missense GRIN1 mutations in additional cortical malformation patients. Shared features in the patients were extensive bilateral polymicrogyria associated with severe developmental delay, postnatal microcephaly, cortical visual impairment and intractable epilepsy...
January 22, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28951896/solvent-water-interactions-within-the-active-site-of-the-membrane-type-i-matrix-metalloproteinase
#5
Elena Decaneto, Tatiana Vasilevskaya, Yuri Kutin, Hideaki Ogata, Moran Grossman, Irit Sagi, Martina Havenith, Wolfgang Lubitz, Walter Thiel, Nicholas Cox
Matrix metalloproteinases (MMP) are an important family of proteases which catalyze the degradation of extracellular matrix components. While the mechanism of peptide cleavage is well established, the process of enzyme regeneration, which represents the rate limiting step of the catalytic cycle, remains unresolved. This step involves the loss of the newly formed N-terminus (amine) and C-terminus (carboxylate) protein fragments from the site of catalysis coupled with the inclusion of one or more solvent waters...
November 22, 2017: Physical Chemistry Chemical Physics: PCCP
https://www.readbyqxmd.com/read/28723954/association-between-urinary-biomarkers-of-total-sugars-intake-and-measures-of-obesity-in-a-cross-sectional-study
#6
Rachel Campbell, Natasha Tasevska, Kim G Jackson, Virag Sagi-Kiss, Nick di Paolo, Jennifer S Mindell, Susan J Lister, Kay-Tee Khaw, Gunter G C Kuhnle
Obesity is an important modifiable risk factor for chronic diseases. While there is increasing focus on the role of dietary sugars, there remains a paucity of data establishing the association between sugar intake and obesity in the general public. The objective of this study was to investigate associations of estimated sugar intake with odds for obesity in a representative sample of English adults. We used data from 434 participants of the 2005 Health Survey of England. Biomarkers for total sugar intake were measured in 24 h urine samples and used to estimate intake...
2017: PloS One
https://www.readbyqxmd.com/read/28723561/crosstalk-between-regulatory-t-cells-and-tumor-associated-dendritic-cells-negates-anti-tumor-immunity-in-pancreatic-cancer
#7
Jung-Eun Jang, Cristina H Hajdu, Caroline Liot, George Miller, Michael L Dustin, Dafna Bar-Sagi
Regulatory T (Treg) cell infiltration constitutes a prominent feature of pancreatic ductal adenocarcinoma (PDA). However, the immunomodulatory function of Treg cells in PDA is poorly understood. Here, we demonstrate that Treg cell ablation is sufficient to evoke effective anti-tumor immune response in early and advanced pancreatic tumorigenesis in mice. This response is dependent on interferon-γ (IFN-γ)-producing cytotoxic CD8(+) T cells. We show that Treg cells engage in extended interactions with tumor-associated CD11c(+) dendritic cells (DCs) and restrain their immunogenic function by suppressing the expression of costimulatory ligands necessary for CD8(+) T cell activation...
July 18, 2017: Cell Reports
https://www.readbyqxmd.com/read/28689252/erratum-to-the-validity-of-a-new-structured-assessment-of-gastrointestinal-symptoms-scale-sagis-for-evaluating-symptoms-in-the-clinical-setting
#8
N A Koloski, M Jones, J Hammer, M von Wulffen, A Shah, H Hoelz, M Kutyla, D Burger, N Martin, S R Gurusamy, N J Talley, G Holtmann
No abstract text is available yet for this article.
September 2017: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/28551709/the-validity-of-a-new-structured-assessment-of-gastrointestinal-symptoms-scale-sagis-for-evaluating-symptoms-in-the-clinical-setting
#9
N A Koloski, M Jones, J Hammer, M von Wulffen, A Shah, H Hoelz, M Kutyla, D Burger, N Martin, S R Gurusamy, N J Talley, G Holtmann
BACKGROUND: The clinical assessments of patients with gastrointestinal symptoms can be time-consuming, and the symptoms captured during the consultation may be influenced by a variety of patient and non-patient factors. To facilitate standardized symptom assessment in the routine clinical setting, we developed the Structured Assessment of Gastrointestinal Symptom (SAGIS) instrument to precisely characterize symptoms in a routine clinical setting. AIMS: We aimed to validate SAGIS including its reliability, construct and discriminant validity, and utility in the clinical setting...
August 2017: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/28548997/anterior-inferior-plating-results-in-fewer-secondary-interventions-compared-to-superior-plating-for-acute-displaced-midshaft-clavicle-fractures
#10
Rafael Serrano, Amrut Borade, Hassan Mir, Anjan Shah, David Watson, Anthony Infante, Mark A Frankle, Mark A Mighell, H Claude Sagi, Daniel S Horwitz, Roy W Sanders
OBJECTIVES: To determine whether a difference in plate position for fixation of acute, displaced, midshaft clavicle fractures would affect the rate of secondary intervention. DESIGN: Retrospective Comparative Study. SETTING: Two academic Level 1 Regional Trauma Centers. PATIENTS: Five hundred ten patients treated surgically for an acutely displaced midshaft clavicle fracture between 2000 and 2013 were identified and reviewed retrospectively at a minimum of 24 months follow-up (F/U)...
September 2017: Journal of Orthopaedic Trauma
https://www.readbyqxmd.com/read/28426722/interactions-between-mitoneet-and-naf-1-in-cells
#11
Ola Karmi, Sarah H Holt, Luhua Song, Sagi Tamir, Yuting Luo, Fang Bai, Ammar Adenwalla, Merav Darash-Yahana, Yang-Sung Sohn, Patricia A Jennings, Rajeev K Azad, Jose' N Onuchic, Faruck Morcos, Rachel Nechushtai, Ron Mittler
The NEET proteins mitoNEET (mNT) and nutrient-deprivation autophagy factor-1 (NAF-1) are required for cancer cell proliferation and resistance to oxidative stress. NAF-1 and mNT are also implicated in a number of other human pathologies including diabetes, neurodegeneration and cardiovascular disease, as well as in development, differentiation and aging. Previous studies suggested that mNT and NAF-1 could function in the same pathway in mammalian cells, preventing the over-accumulation of iron and reactive oxygen species (ROS) in mitochondria...
2017: PloS One
https://www.readbyqxmd.com/read/28389591/cd11c-expressing-cells-affect-regulatory-t-cell-behavior-in-the-meninges-during-central-nervous-system-infection
#12
Carleigh A O'Brien, Christopher Overall, Christoph Konradt, Aisling C O'Hara Hall, Nikolas W Hayes, Sagie Wagage, Beena John, David A Christian, Christopher A Hunter, Tajie H Harris
Regulatory T cells (Tregs) play an important role in the CNS during multiple infections, as well as autoimmune inflammation, but the behavior of this cell type in the CNS has not been explored. In mice, infection with Toxoplasma gondii leads to a Th1-polarized parasite-specific effector T cell response in the brain. Similarly, Tregs in the CNS during T. gondii infection are Th1 polarized, as exemplified by their T-bet, CXCR3, and IFN-γ expression. Unlike effector CD4(+) T cells, an MHC class II tetramer reagent specific for T...
May 15, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28129374/il-27-limits-type-2-immunopathology-following-parainfluenza-virus-infection
#13
Gaia Muallem, Sagie Wagage, Yan Sun, Jonathan H DeLong, Alex Valenzuela, David A Christian, Gretchen Harms Pritchard, Qun Fang, Elizabeth L Buza, Deepika Jain, M Merle Elloso, Carolina B López, Christopher A Hunter
Respiratory paramyxoviruses are important causes of morbidity and mortality, particularly of infants and the elderly. In humans, a T helper (Th)2-biased immune response to these infections is associated with increased disease severity; however, little is known about the endogenous regulators of these responses that may be manipulated to ameliorate pathology. IL-27, a cytokine that regulates Th2 responses, is produced in the lungs during parainfluenza infection, but its role in disease pathogenesis is unknown...
January 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/27984452/comparison-of-3-methods-for-maintaining-inter-fragmentary-compression-after-fracture-reduction-and-fixation
#14
Brigham Au, John Groundland, T Kyle Stoops, Brandon G Santoni, H Claude Sagi
OBJECTIVES: It is recommended that the intra-articular component of a supracondylar distal femoral fracture be stabilized by a lag screw to create interfragmental compression. Generally, it is thought that lag screw fixation should precede any positional screw or locking screw application. This study compared 3 methods of maintaining interfragmentary compression after fracture reduction with a reduction clamp. METHODS: Intra-articular vertical split fractures were created in synthetic femora...
April 2017: Journal of Orthopaedic Trauma
https://www.readbyqxmd.com/read/27936040/a-high-throughput-strategy-for-dissecting-mammalian-genetic-interactions
#15
Victoria B Stockman, Lila Ghamsari, Gorka Lasso, Barry Honig, Sagi D Shapira, Harris H Wang
Comprehensive delineation of complex cellular networks requires high-throughput interrogation of genetic interactions. To address this challenge, we describe the development of a multiplex combinatorial strategy to assess pairwise genetic interactions using CRISPR-Cas9 genome editing and next-generation sequencing. We characterize the performance of combinatorial genome editing and analysis using different promoter and gRNA designs and identified regions of the chimeric RNA that are compatible with next-generation sequencing preparation and quantification...
2016: PloS One
https://www.readbyqxmd.com/read/27755339/institutional-and-seasonal-variations-in-the-incidence-and-causative-organisms-for-posttraumatic-infection-following-open-fractures
#16
H Claude Sagi, David Donohue, Seth Cooper, David P Barei, Justin Siebler, Michael T Archdeacon, Marcus Sciadini, Michelle Romeo, Patrick F Bergin, Thomas Higgins, Hassan Mir
OBJECTIVES: The current literature focuses on wound severity, time to debridement, and antibiotic administration with respect to risk of infection after open fracture. The purpose of this analysis was to determine if either the incidence of posttraumatic infection or causative organism varies with treating institution or the season in which the open fracture occurred. DESIGN: Retrospective review. SETTING: Seven level 1 regional referral trauma centers located in each of the 7 climatic regions of the continental United States (Northwest, High Plains, Midwest/Ohio Valley, New England/Mid-Atlantic, Southeast, South, and Southwest)...
February 2017: Journal of Orthopaedic Trauma
https://www.readbyqxmd.com/read/27665735/the-molecular-and-phenotypic-spectrum-of-iqsec2-related-epilepsy
#17
Ayelet Zerem, Kazuhiro Haginoya, Dorit Lev, Lubov Blumkin, Sara Kivity, Ilan Linder, Cheryl Shoubridge, Elizabeth Emma Palmer, Michael Field, Jackie Boyle, David Chitayat, William D Gaillard, Eric H Kossoff, Marjolaine Willems, David Geneviève, Frederic Tran-Mau-Them, Orna Epstein, Eli Heyman, Sarah Dugan, Alice Masurel-Paulet, Ame'lie Piton, Tjitske Kleefstra, Rolph Pfundt, Ryo Sato, Andreas Tzschach, Naomichi Matsumoto, Hirotomo Saitsu, Esther Leshinsky-Silver, Tally Lerman-Sagie
OBJECTIVE: IQSEC2 is an X-linked gene associated with intellectual disability (ID) and epilepsy. Herein we characterize the epilepsy/epileptic encephalopathy of patients with IQSEC2 pathogenic variants. METHODS: Forty-eight patients with IQSEC2 variants were identified worldwide through Medline search. Two patients were recruited from our early onset epileptic encephalopathy cohort and one patient from personal communication. The 18 patients who have epilepsy in addition to ID are the subject of this study...
November 2016: Epilepsia
https://www.readbyqxmd.com/read/27638010/group-a-streptococcus-is-there-a-genital-carrier-state-in-women-following-infection
#18
A Lev-Sagie, D Hochner-Celnikier, D Stroumsa, A Khalaileh, H Daum, A E Moses
Group A streptococcus (GAS) is a rare but serious cause of postpartum and gynecological infections. There are no follow-up or prophylaxis guidelines for women with previous GAS genital infection. We aimed to evaluate the incidence of long-term gynecological carrier state in patients with a history of genital GAS infection. This is a prospective study of women who had a genital GAS infection and were followed for 1 year from the date of isolation. Cultures were obtained every 3-4 months. As a control group, women with no previously documented GAS infection were screened for GAS...
January 2017: European Journal of Clinical Microbiology & Infectious Diseases
https://www.readbyqxmd.com/read/27566720/two-dimensional-strain-echocardiography-for-diagnosing-chest-pain-in-the-emergency-room-a-multicentre-prospective-study-by-the-israeli-echo-research-group
#19
Avinoam Shiran, David S Blondheim, Sara Shimoni, Mohamed Jabarren, David Rosenmann, Alex Sagie, David Leibowitz, Marina Leitman, Micha Feinberg, Ronen Beeri, Salim Adawi, Avraham Shotan, Sorel Goland, Lev Bloch, Sergio L Kobal, Noah Liel-Cohen
Aims: Left ventricular (LV) two-dimensional longitudinal strain (2DLS) analysis by echocardiography has been suggested as a useful tool for the detection of acute coronary syndromes (ACS). Our aim was to determine whether 2DLS analysis could assist in triage of patients with chest pain (CP) in the emergency department (ED). Methods and results: We prospectively enrolled patients presenting to the ED with CP and suspected ACS but without a diagnostic ECG or elevated troponin...
September 1, 2017: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/27452662/contribution-of-long-fibrils-and-peptides-to-surface-and-foaming-behavior-of-soy-protein-fibril-system
#20
Zhili Wan, Xiaoquan Yang, Leonard M C Sagis
When soy glycinin (11S) is heated for a prolonged time at pH 2 (20 h at 85 °C), a mixture is formed consisting of long semiflexible 11S fibrils and small peptides. The surface and foaming properties of this mixture were investigated at different pHs, and compared to the behavior of pure fibrils and pure peptides, to determine the individual contributions of these two factions to the behavior of the mixture. The adsorption of these three systems at air-water interfaces and the resulting surface rheological properties were studied by combining drop shape analysis tensiometry, ellipsometry, and surface large amplitude oscillatory dilatational (LAOD) rheology...
August 16, 2016: Langmuir: the ACS Journal of Surfaces and Colloids
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