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https://www.readbyqxmd.com/read/29769739/membrane-association-of-monotopic-phosphoglycosyl-transferase-underpins-function
#1
Leah C Ray, Debasis Das, Sonya Entova, Vinita Lukose, Andrew J Lynch, Barbara Imperiali, Karen N Allen
Polyprenol phosphate phosphoglycosyl transferases (PGTs) catalyze the first membrane-committed step in assembly of essential glycoconjugates. Currently there is no structure-function information to describe how monotopic PGTs coordinate the reaction between membrane-embedded and soluble substrates. We describe the structure and mode of membrane association of PglC, a PGT from Campylobacter concisus. The structure reveals a unique architecture, provides mechanistic insight and identifies ligand-binding determinants for PglC and the monotopic PGT superfamily...
May 16, 2018: Nature Chemical Biology
https://www.readbyqxmd.com/read/29767472/the-impact-of-real-world-cardiovascular-related-pharmacogenetic-testing-in-an-insured-population
#2
Jennifer Billings, Patrick N Racsa, Kristine Bordenave, Charron L Long, Jeffrey J Ellis
BACKGROUND: Pharmacogenomics is intended to help clinicians provide the right drug to the right patient at an appropriate dose. However, limited evidence of clinical utility has slowed uptake of pharmacogenomic testing (PGT). OBJECTIVE: To evaluate the impact of real-world cardiovascular (CV)-related PGT on clinical outcomes, healthcare resource utilisation (HCRU) and cost in a large, heterogeneous population. METHODS: Individuals with Medicare Advantage Prescription Drug, Medicaid, or commercial coverage between 1/1/2011 and 9/30/2015 and ≥1 atherosclerotic CV-related diagnosis were identified...
May 16, 2018: International Journal of Clinical Practice
https://www.readbyqxmd.com/read/29741247/prenatal-and-preimplantation-diagnosis-of-hemoglobinopathies
#3
REVIEW
C Vrettou, G Kakourou, T Mamas, J Traeger-Synodinos
The hemoglobinopathies, as a group, are one of the most common serious monogenic diseases in the world. An accepted and widely adopted approach to reduce the number of new cases involves carrier-screening programs, with the option of prenatal diagnosis (PND) or preimplantation diagnosis (preimplantation genetic testing for monogenic disease, PGT-M) for carrier couples. The aim of PND is to provide an accurate result as early in pregnancy as possible, which necessitates prior identification of the parental disease-causing mutations, as well as safe and timely biopsy of fetal material...
May 2018: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/29724534/low-anti-m%C3%A3-llerian-hormone-concentration-is-associated-with-increased-risk-of-embryonic-aneuploidy-in-women-of-advanced-age
#4
Xiao Jiang, Junhao Yan, Yan Sheng, Mei Sun, Linlin Cui, Zi-Jiang Chen
RESEARCH QUESTION: Does an association exist between serum anti-Müllerian hormone (AMH) level, the marker of biological ovarian age, and embryonic aneuploidy risk in recurrent spontaneous miscarriage (RSM) patients of reproductive age? DESIGN: This retrospective study included a total of 422 IVF cycles of 394 unexplained RSM patients undergoing preimplantation genetic testing for aneuploidy (PGT-A), enrolled from January 2014 to December 2016. Subjects were divided into three groups according to the 25th (1...
April 13, 2018: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29698522/massively-parallel-sequencing-of-micro-manipulated-cells-targeting-a-comprehensive-panel-of-disease-causing-genes-a-comparative-evaluation-of-upstream-whole-genome-amplification-methods
#5
Lieselot Deleye, Yannick Gansemans, Dieter De Coninck, Filip Van Nieuwerburgh, Dieter Deforce
Single Gene Disorders (SGD) are still routinely diagnosed using PCR-based assays that need to be developed and validated for each individual disease-specific gene fragment. The TruSight One sequencing panel currently covers 12 Mb of genomic content, including 4813 genes associated with a clinical phenotype. When only a limited number of cells are available, whole genome amplification (WGA) is required prior to DNA target capture techniques such as the TruSight One panel. In this study, we compared 4 different WGA methods in combination with the TruSight One sequencing panel to perform single nucleotide polymorphism (SNP) genotyping starting from 3 micro-manipulated cells...
2018: PloS One
https://www.readbyqxmd.com/read/29697414/the-dilemma-of-aneuploidy-screening-on-low-responders
#6
Scott J Morin, Daniel J Kaser, Jason M Franasiak
PURPOSE OF REVIEW: Preimplantation genetic testing for aneuploidy (PGT-A) has been demonstrated to improve implantation and pregnancy rates and decrease miscarriage rates over standard morphology-based embryo selection. However, there are limited data on its efficacy in patients with diminished ovarian reserve or a poor response to stimulation who may have fewer embryos to select amongst. RECENT FINDINGS: Early findings demonstrate that PGT-A reduces the miscarriage rate and decreases the time to delivery in poor responders...
April 24, 2018: Current Opinion in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29687370/performance-comparison-of-two-whole-genome-amplification-techniques-in-frame-of-multifactor-preimplantation-genetic-testing
#7
Ludmila Volozonoka, Dmitry Perminov, Liene Korņejeva, Baiba Alkšere, Natālija Novikova, Evija Jokste Pīmane, Arita Blumberga, Inga Kempa, Anna Miskova, Linda Gailīte, Violeta Fodina
PURPOSE: To compare multiple displacement amplification and OmniPlex whole genome amplification technique performance during array comparative genome hybridization (aCGH), Sanger sequencing, SNaPshot and fragment size analysis downstream applications in frame of multifactor embryo preimplantation genetic testing. METHODS: Preclinical workup included linked short tandem repeat (STR) marker selection and primer design for loci of interest. It was followed by a family haplotyping, after which an in vitro fertilization preimplantation genetic testing (IVF-PGT) cycle was carried out...
April 23, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29615115/effectiveness-of-personal-genomic-testing-for-disease-prevention-behavior-when-combined-with-careful-consultation-with-a-physician-a-preliminary-study
#8
Mikihiro Hayashi, Atai Watanabe, Masaaki Muramatsu, Naohide Yamashita
OBJECTIVES: There are many direct-to-consumer (DTC)-type personal genomic testing (PGT) services commercially available to the public, providing the specific disease susceptibilities of individuals. While these services do not appear to stimulate disease-prevention behavior, few studies have addressed the methods to do so. We investigated the effectiveness of combining a consultation with a physician with the delivery of test results from a DTC-type PGT, as a preliminary study to identify the effective genomic testing for disease-prevention...
April 3, 2018: BMC Research Notes
https://www.readbyqxmd.com/read/29614079/identification-and-characterization-of-wheat-stem-rust-resistance-gene-sr21-effective-against-the-ug99-race-group-at-high-temperature
#9
Shisheng Chen, Wenjun Zhang, Stephen Bolus, Matthew N Rouse, Jorge Dubcovsky
Wheat stem rust, caused by Puccinia graminis f. sp. tritici (Pgt), is a devastating foliar disease. The Ug99 race group has combined virulence to most stem rust (Sr) resistance genes deployed in wheat and is a threat to global wheat production. Here we identified a coiled-coil, nucleotide-binding leucine-rich repeat protein (NLR) completely linked to the Ug99 resistance gene Sr21 from Triticum monococcum. Loss-of-function mutations and transgenic complementation confirmed that this gene is Sr21. Sr21 transcripts were significantly higher at high temperatures, and this was associated with significant upregulation of pathogenesis related (PR) genes and increased levels of resistance at those temperatures...
April 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29588611/the-utility-of-pharmacogenetic-testing-to-support-the-treatment-of-bipolar-disorder
#10
Marta Ielmini, Nicola Poloni, Ivano Caselli, Jordi Espadaler, Miquel Tuson, Alessandro Grecchi, Camilla Callegari
Background: Bipolar disorder (BD) is a frequent cause of disability, health care costs, and risk of suicide. Pharmacogenetic tests (PGTs) could help clinicians to identify those patients predisposed to the occurrence of adverse events (AEs) improving the understanding of the correlation between genetic variants and drug response. Materials and methods: The study evaluated 30 patients affected by BD type I or II (according to Diagnostic and Statistical Manual of Mental Disorders, version 5 ) who underwent the PGT Neurofarmagen® (AB-BIOTICS SA, Barcelona, Spain) between March 2016 and March 2017...
2018: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/29566854/the-use-of-preimplantation-genetic-testing-for-aneuploidy-pgt-a-a-committee-opinion
#11
(no author information available yet)
The value of preimplantation genetic testing for aneuploidy (PGT-A) as a screening test for in vitro fertilization (IVF) patients has yet to be determined. Several studies demonstrate higher birth rates after aneuploidy testing and elective single-embryo transfer (eSET), suggesting the potential for this testing to decrease the risk of multiple gestations, though these studies have important limitations.
March 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29546326/a-rationale-for-biopsying-embryos-reaching-the-morula-stage-on-day-6-in-women-undergoing-preimplantation-genetic-testing-for-aneuploidy
#12
M Irani, N Zaninovic, C Canon, C O'Neill, V Gunnala, Q Zhan, G Palermo, D Reichman, Z Rosenwaks
STUDY QUESTION: Is there a benefit to assessing ploidy in delayed embryos reaching the morula stage on Day 6 of development? SUMMARY ANSWER: Day-6 morulae should be considered for biopsy in women <40 years old undergoing preimplantation genetic testing for aneuploidy (PGT-A) because they are associated with acceptable, albeit reduced, euploidy and implantation rates (IRs). WHAT IS KNOWN ALREADY: Embryo development and morphology have been shown to correlate with aneuploidy and pregnancy rates...
March 13, 2018: Human Reproduction
https://www.readbyqxmd.com/read/29535621/event-related-potentials-during-a-gambling-task-in-young-adults-with-attention-deficit-hyperactivity-disorder
#13
Sarah K Mesrobian, Alessandro E P Villa, Michel Bader, Lorenz Götte, Alessandra Lintas
Attention-deficit hyperactivity disorder (ADHD) is characterized by deficits in executive functions and decision making during childhood and adolescence. Contradictory results exist whether altered event-related potentials (ERPs) in adults are associated with the tendency of ADHD patients toward risky behavior. Clinically diagnosed ADHD patients ( n = 18) and healthy controls ( n = 18), aged between 18 and 29 (median 22 Yo), were screened with the Conners' Adult ADHD Rating Scales and assessed by the Mini-International Neuropsychiatric Interview, adult ADHD Self-Report Scale, and by the 60-item HEXACO Personality Inventory...
2018: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/29511771/risk-of-hysterectomy-and-salpingectomy-or-oophorectomy-compared-to-repair-after-pelvic-gynecologic-trauma
#14
Areg Grigorian, Victor Joe, Patrick Thomas Delaplain, Sebastian Schubl, Bel Barker, Viktor Gabriel, Austin Ronald Dosch, Cristobal Barrios, Jeffry Nahmias
PURPOSE: Pelvic gynecologic trauma (PGT) includes injury to the uterus, ovaries or fallopian tubes. We hypothesized Injury Severity Score (ISS) ≥ 25, hypotension on admission and age ≥ 51 (average age for menopause) would be independent risk factors for resection compared to repair. METHODS: A retrospective analysis of the National Trauma Data Bank was performed between 2007 and 2015. RESULTS: Of 2,040,235 female patients, 1938 (< 0...
March 6, 2018: European Journal of Trauma and Emergency Surgery: Official Publication of the European Trauma Society
https://www.readbyqxmd.com/read/29471395/origin-and-composition-of-cell-free-dna-in-spent-medium-from-human-embryo-culture-during-preimplantation-development
#15
M Vera-Rodriguez, A Diez-Juan, J Jimenez-Almazan, S Martinez, R Navarro, V Peinado, A Mercader, M Meseguer, D Blesa, I Moreno, D Valbuena, C Rubio, C Simon
STUDY QUESTION: What is the origin and composition of cell-free DNA in human embryo spent culture media? SUMMARY ANSWER: Cell-free DNA from human embryo spent culture media represents a mix of maternal and embryonic DNA, and the mixture can be more complex for mosaic embryos. WHAT IS KNOWN ALREADY: In 2016, ~300 000 human embryos were chromosomally and/or genetically analyzed using preimplantation genetic testing for aneuploidies (PGT-A) or monogenic disorders (PGT-M) before transfer into the uterus...
April 1, 2018: Human Reproduction
https://www.readbyqxmd.com/read/29454296/effect-of-multiple-low-dose-pgf-2-%C3%AE-injections-on-the-mature-corpus-luteum-in-non-pregnant-bitches
#16
Eyyup H Ucar, Hayrettin Cetin, Mehmet O Atli
This study investigated molecular regulation in the canine corpus luteums/corpora lutea (CL) following multiple low-dose prostaglandin F2 alpha (PGF2 α) injections in non-pregnant bitches around 30-35 days after ovulation. The CL were obtained by ovariohysterectomy 1 h after the last PGF2 α injection. The subjects were divided into the following groups: control (no PGF2 α injection, n = 4), one PGF2 α injection (injection at 0 h, 1PGF, n = 4), two PGF2 α injection (injection at 0 and 8 h, 2PGF, n = 4), and three PGF2 α injection (injection at 0, 8 and 24 h, 3PGF, n = 4)...
June 2018: Theriogenology
https://www.readbyqxmd.com/read/29426203/effects-of-atmospheric-stability-and-urban-morphology-on-daytime-intra-urban-temperature-variability-for-glasgow-uk
#17
Patricia Drach, Eduardo L Krüger, Rohinton Emmanuel
This study investigates the joint effect of atmospheric conditions and urban morphology, expressed as the Sky View Factor (SVF), on intra-urban variability. The study has been carried out in Glasgow, UK, a shrinking city with a maritime temperate climate type, and findings could guide future climate adaptation plans in terms of morphology and services provided by the municipality to overcome thermal discomfort in outdoor settings. In this case, SVF has been used as an indicator of urban morphology. The modified Pasquill-Gifford-Turner (PGT) classification system was adopted for classifying the temperature monitoring periods according to atmospheric stability conditions...
June 15, 2018: Science of the Total Environment
https://www.readbyqxmd.com/read/29357813/dissection-of-the-multigenic-wheat-stem-rust-resistance-present-in-the-montenegrin-spring-wheat-accession-pi-362698
#18
Jason D Zurn, Matthew N Rouse, Shiaoman Chao, Meriem Aoun, Godwin Macharia, Colin W Hiebert, Zacharias A Pretorius, J Michael Bonman, Maricelis Acevedo
BACKGROUND: Research to identify and characterize stem rust resistance genes in common wheat, Triticum aestivum, has been stimulated by the emergence of Ug99-lineage races of the wheat stem rust pathogen, Puccinia graminis f. sp. tritici (Pgt), in Eastern Africa. The Montenegrin spring wheat landrace PI 362698 was identified as a source of Pgt resistance. This accession exhibits resistance to multiple Ug99-lineage and North American Pgt races at seedling and adult-plant stages. A recombinant inbred population was developed by crossing the susceptible line LMPG-6 with a single plant selection of PI 362698...
January 22, 2018: BMC Genomics
https://www.readbyqxmd.com/read/29204966/roles-of-organic-anion-transporting-polypeptide-2a1-oatp2a1-slco2a1-in-regulating-the-pathophysiological-actions-of-prostaglandins
#19
Takeo Nakanishi, Ikumi Tamai
Solute carrier organic anion transporter family member 2A1 (OATP2A1, encoded by the SLCO2A1 gene), which was initially identified as prostaglandin transporter (PGT), is expressed ubiquitously in tissues and mediates the distribution of prostanoids, such as PGE2 , PGF2α , PGD2 and TxB2 . It is well known to play a key role in the metabolic clearance of prostaglandins, which are taken up into the cell by OATP2A1 and then oxidatively inactivated by 15-ketoprostaglandin dehydrogenase (encoded by HPGD); indeed, OATP2A1-mediated uptake is the rate-limiting step of PGE2 catabolism...
December 4, 2017: AAPS Journal
https://www.readbyqxmd.com/read/29177535/genome-wide-association-study-of-stem-rust-resistance-in-a-world-collection-of-cultivated-barley
#20
Austin J Case, Sridhar Bhavani, Godwin Macharia, Brian J Steffenson
QTL conferring a 14-40% reduction in adult plant stem rust severity to multiple races of Pgt were found on chromosome 5H and will be useful in barley breeding. Stem rust, caused by Puccinia graminis f. sp. tritici (Pgt) is an important disease of barley. The resistance gene Rpg1 has protected the crop against stem rust losses for over 70 years in North America, but is not effective against the African Pgt race TTKSK (and its variants) nor the domestic race QCCJB. To identify resistance to these Rpg1-virulent races, the Barley iCore Collection, held by the United States Department of Agriculture-Agricultural Research Service National Small Grains Collection was evaluated for adult plant resistance (APR) and seedling resistance to race TTKSK and APR to race QCCJB and the Pgt TTKSK composite of races TTKSK, TTKST, TTKTK, and TTKTT...
January 2018: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
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