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https://www.readbyqxmd.com/read/28211254/egyptian-tale-from-india-application-of-whole-exome-sequencing-in-diagnosis-of-atypical-familial-mediterranean-fever
#1
Pulukool Sandhya, Shamsudheen Karuthedath Vellarikkal, Aswin Nair, Rowmika Ravi, John Mathew, Rijith Jayarajan, Anoop Kumar, Ankit Verma, Ambily Sivadas, Debashish Danda, Sridhar Sivasubbu, Vinod Scaria
Clinical diagnosis of autoinflammatory diseases requires a high degree of clinical suspicion and clinching molecular evidence to substantiate the diagnosis. This is more so in populations with low prevalence of these disorders. In this report, we describe the case of a young man from India with recurrent fever and persistent arthritis. The patient's forefathers were of Egyptian ancestry who practiced consanguinity. Molecular genetic analysis using whole-exome sequencing suggested the presence of variants c...
February 17, 2017: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/28209853/failed-spinal-cord-trial-offers-cautionary-tale
#2
Kelly Servick
No abstract text is available yet for this article.
February 17, 2017: Science
https://www.readbyqxmd.com/read/28208608/multiple-mobile-mrna-signals-regulate-tuber-development-in-potato
#3
REVIEW
David J Hannapel, Anjan K Banerjee
Included among the many signals that traffic through the sieve element system are full-length mRNAs that function to respond to the environment and to regulate development. In potato, several mRNAs that encode transcription factors from the three-amino-loop-extension (TALE) superfamily move from leaves to roots and stolons via the phloem to control growth and signal the onset of tuber formation. This RNA transport is enhanced by short-day conditions and is facilitated by RNA-binding proteins from the polypyrimidine tract-binding family of proteins...
February 10, 2017: Plants (Basel, Switzerland)
https://www.readbyqxmd.com/read/28207018/questioning-the-specificity-and-sensitivity-of-elisa-for-bullous-pemphigoid-diagnosis
#4
Christine Muglia, Tara Bronsnick, A Yasmine Kirkorian, Jisun Cha
The reported sensitivity and specificity of enzyme-linked immunosorbent assay (ELISA) for bullous pemphigoid (BP) diagnosis is approximately 87% and 98%, respectively. These statistics suggest that ELISA is a reliable diagnostic test; therefore, the use of ELISA for BP diagnosis has increased. We report the case of a man who was diagnosed with BP and was treated for 3 years based on a positive ELISA for IgG against BP180. After reevaluation, his revised diagnosis was not consistent with BP based on clinical presentation, histopathology, and direct immunofluorescence (DIF)...
January 2017: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/28206813/the-measure-tells-the-tale-clinical-outcome-measures-in-multiple-sclerosis
#5
Hanneke E Hulst, Alan J Thompson, Jeroen Jg Geurts
No abstract text is available yet for this article.
February 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28203602/hamstring-contracture-after-acl-reconstruction-is-associated-with-an-increased-risk-of-cyclops-syndrome
#6
Francisco Guerra Pinto, Mathieu Thaunat, Matt Daggett, Charles Kajetanek, Tiago Marques, Tales Guimares, Bénédicte Quelard, Bertrand Sonnery-Cottet
BACKGROUND: Cyclops syndrome is characterized by loss of terminal knee extension due to proliferative fibrous nodule formation in the intercondylar notch. This complication occurs in the early postoperative period after anterior cruciate ligament reconstruction (ACLR). The pathogenesis of Cyclops syndrome is not well understood. HYPOTHESIS: Persistent hamstring contracture after ACLR is associated with an increased risk of subsequent Cyclops syndrome. STUDY DESIGN: Case-control study; Level of evidence, 3...
January 2017: Orthopaedic Journal of Sports Medicine
https://www.readbyqxmd.com/read/28201948/enbrel-and-etanercept-biosimilars-a-tale-of-two-patent-systems
#7
Peter Norman
No abstract text is available yet for this article.
February 16, 2017: Pharmaceutical Patent Analyst
https://www.readbyqxmd.com/read/28197069/bridging-the-gap-between-brain-activity-and-cognition-beyond-the-different-tales-of-fmri-data-analysis
#8
Maria G Di Bono, Konstantinos Priftis, Carlo Umiltà
No abstract text is available yet for this article.
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28195386/a-tale-of-two-elements-the-lewis-acidity-basicity-umpolung-of-boron-and-phosphorus
#9
Douglas Wade Stephan
This mini-review focuses on the Lewis acidity/basicity "umpolung" of B-based nucleophiles and P-based electrophiles.
February 13, 2017: Angewandte Chemie
https://www.readbyqxmd.com/read/28193997/stepwise-reprogramming-of-liver-cells-to-a-pancreas-progenitor-state-by-the-transcriptional-regulator-tgif2
#10
Nuria Cerdá-Esteban, Heike Naumann, Silvia Ruzittu, Nancy Mah, Igor M Pongrac, Corinna Cozzitorto, Angela Hommel, Miguel A Andrade-Navarro, Ezio Bonifacio, Francesca M Spagnoli
The development of a successful lineage reprogramming strategy of liver to pancreas holds promises for the treatment and potential cure of diabetes. The liver is an ideal tissue source for generating pancreatic cells, because of its close developmental origin with the pancreas and its regenerative ability. Yet, the molecular bases of hepatic and pancreatic cellular plasticity are still poorly understood. Here, we report that the TALE homeoprotein TGIF2 acts as a developmental regulator of the pancreas versus liver fate decision and is sufficient to elicit liver-to-pancreas fate conversion both ex vivo and in vivo...
February 13, 2017: Nature Communications
https://www.readbyqxmd.com/read/28184434/tell-tale-snps-the-role-of-cyp2b6-in-methadone-fatalities
#11
Taha Ahmad, Samie Sabet, Donald A Primerano, Lauren L Richards-Waugh, Gary O Rankin
No abstract text is available yet for this article.
February 10, 2017: Journal of Analytical Toxicology
https://www.readbyqxmd.com/read/28181932/evaluation-of-nitrous-oxide-in-the-gas-mixture-for-anesthesia-enigma-studies-the-tale-of-two-large-pragmatic-randomized-controlled-trials
#12
Girish P Joshi, John H Pennant, Henrik Kehlet
No abstract text is available yet for this article.
February 8, 2017: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/28181538/epigenetic-editing-of-ascl1-gene-in-neural-stem-cells-by-optogenetics
#13
Chiao-Ling Lo, Samrat Roy Choudhury, Joseph Irudayaraj, Feng C Zhou
Enzymes involved in epigenetic processes such as methyltransferases or demethylases are becoming highly utilized for their persistent DNA or histone modifying efficacy. Herein, we have developed an optogenetic toolbox fused to the catalytic domain (CD) of DNA-methyltransferase3A (DNMT3A-CD) or Ten-Eleven Dioxygenase-1 (TET1-CD) for loci-specific alteration of the methylation state at the promoter of Ascl1 (Mash1), a candidate proneuron gene. Optogenetical protein pairs, CRY2 linked to DNMT3A-CD or TET1-CD and CIB1 fused to a Transcription Activator-Like Element (TALE) locating an Ascl1 promoter region, were designed for site specific epigenetic editing...
February 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28179607/half-a-century-tales-of-familial-hypercholesterolemia-fh-in-japan
#14
Hiroshi Mabuchi
Familial hypercholesterolemia (FH) is a disease characterized by a triad: elevated low-density lipoprotein (LDL) cholesterol, tendon xanthomas, and premature coronary heart disease. Thus, it can be considered as a model disease for hypercholesterolemia and atherosclerotic cardiovascular disease (ASCVD). For the diagnosis of hetero-FH, the detection of Achilles tendon xanthomas by palpation or on X-ray is an indispensable diagnostic skill in clinical lipidology. To prevent the under-diagnosis and under-treatment of FH, the diagnostic criteria should be more convenient and user-friendly...
February 8, 2017: Journal of Atherosclerosis and Thrombosis
https://www.readbyqxmd.com/read/28174736/paths-to-gi-research-in-the-wild-west-tales-from-wyoming
#15
EDITORIAL
Kristopher D Parker, Jason P Gigley, Naomi L Ward
No abstract text is available yet for this article.
September 2016: Cellular and Molecular Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28174243/efficient-talen-mediated-gene-targeting-of-chicken-primordial-germ-cells
#16
Lorna Taylor, Daniel F Carlson, Sunil Nandi, Adrian Sherman, Scott C Fahrenkrug, Michael J McGrew
In this work we use TALE nucleases (TALENs) to target a reporter construct to the DDX4 (vasa) locus in chicken primordial germ cells. Vasa is a key germ cell determinant in many animal species and is posited to control avian germ cell formation. We show that TALENs mediate homology directed repair of the DDX4 locus on the Z sex chromosome at high (8.1%) efficiencies. Large genetic deletions of 30kb encompassing the entire DDX4 locus were also created using a single TALEN pair. The targeted PGCs were germ line competent and were used to produce DDX4 null offspring...
February 7, 2017: Development
https://www.readbyqxmd.com/read/28171743/a-tale-of-division-and-polarization-in-the-mammalian-embryo
#17
Shankar Srinivas, Tristan Argeo Rodriguez
The first cell fate choice in mouse development is the segregation of the embryonic inner cell mass and the extra-embryonic trophectoderm. In this issue of Developmental Cell, Korotkevic and colleagues (2017) show that the interplay between cell polarization and cell-cell contact drives the segregation of these lineages, providing a framework for self-organization in development.
February 6, 2017: Developmental Cell
https://www.readbyqxmd.com/read/28170482/mentee-missteps-tales-from-the-academic-trenches
#18
Valerie Vaughn, Sanjay Saint, Vineet Chopra
No abstract text is available yet for this article.
February 7, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28165269/analyzing-dyadic-data-with-multilevel-modeling-versus-structural-equation-modeling-a-tale-of-two-methods
#19
Thomas Ledermann, David A Kenny
Multilevel modeling (MLM) and structural equation modeling (SEM) are the dominant methods for the analysis of dyadic data. Both methods are extensively reviewed for the widely used actor-partner interdependence model and the dyadic growth curve model, as well as other less frequently adopted models, including the common fate model and the mutual influence model. For each method, we discuss the analysis of distinguishable and indistinguishable members, the treatment of missing data, the standardization of effects, and tests of mediation...
February 6, 2017: Journal of Family Psychology: JFP
https://www.readbyqxmd.com/read/28160297/-thinking-ill-of-others-without-sufficient-warrant-transcending-the-accuracy-inaccuracy-dualism-in-prejudice-and-stereotyping-research
#20
John Dixon
Research on prejudice seeks to understand and transform inaccurate beliefs about others. Indeed, historically such research has offered a cautionary tale of the biased nature of human cognition. Recently, however, this view has been challenged by work defending the essential rationality of intergroup perception, a theme captured controversially in Jussim and colleagues' (2009) research on the 'unbearable accuracy of stereotyping'. The present paper argues that in its own terms the 'rationalist turn' in socio-cognitive research on stereotyping presents an important challenge to the prejudice tradition, raising troubling questions about its conceptual and empirical foundations...
February 3, 2017: British Journal of Social Psychology
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