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https://www.readbyqxmd.com/read/29333478/a-general-method-for-intracellular-protein-delivery-through-e-tag-protein-engineering-and-arginine-functionalized-gold-nanoparticles
#1
Rubul Mout, Vincent M Rotello
In this protocol, we describe a method for direct cytosolic protein delivery that avoids endosomal entrapment of the delivered proteins. We achieved this by tagging the desired protein with an oligo glutamic acid tag (E-tag), and subsequently using carrier gold nanoparticles to deliver these E-tagged proteins. When E-tagged proteins and nanoparticles were mixed, they formed nanoassemblies, which got fused to cell membrane upon incubation and directly released the E-tagged protein into cell cytosol. We used this method to deliver a wide variety of proteins with different sizes, charges, and functions in various cell lines (Mout et al...
December 20, 2017: Bio-protocol
https://www.readbyqxmd.com/read/29331940/screening-and-functional-exploration-of-prothrombin-arg596-related-mutations-in-chinese-venous-thromboembolism-patients
#2
Xi Wu, Lei Li, Qiulan Ding, Xuefeng Wang, Fang Wu, Wenman Wu
AIMS: Dysfunctional prothrombin residue Arg596 associated mutation has been found to precipitate venous thromboembolism (VTE). In the current study we investigated the prevalence of Arg596 associated mutations in Chinese patients with VTE and explored the functional impact of Arg596Gln mutation on coagulation function in affected patients. METHODS: Prothrombin clotting activity was measured in 267 unrelated patients with unprovoked VTE. Patients with moderately decreased activities underwent further analysis of the F2 gene...
January 13, 2018: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/29331839/functional-characterization-of-a-novel-herg-variant-in-a-family-with-recurrent-sudden-infant-death-syndrome-retracting-a-genetic-diagnosis
#3
Valentine Sergeev, Frances Perry, Thomas M Roston, Shubhayan Sanatani, Glen F Tibbits, Thomas W Claydon
Long QT syndrome (LQTS) is the most common cardiac ion channelopathy and has been found to be responsible for approximately 10% of sudden infant death syndrome (SIDS) cases. Despite increasing use of broad panels and now whole exome sequencing (WES) in the investigation of SIDS, the probability of identifying a pathogenic mutation in a SIDS victim is low. We report a family-based study who are afflicted by recurrent SIDS in which several members harbor a variant, p.Pro963Thr, in the C-terminal region of the human-ether-a-go-go (hERG) gene, published to be responsible for cases of LQTS type 2...
December 20, 2017: Forensic Science International
https://www.readbyqxmd.com/read/29331291/global-microrna-profiling-in-human-bone-marrow-skeletal-stromal-or-mesenchymal-stem-cells-identified-candidates-for-bone-regeneration
#4
Chi-Chih Chang, Morten T Venø, Li Chen, Nicholas Ditzel, Dang Q S Le, Philipp Dillschneider, Moustapha Kassem, Jørgen Kjems
Bone remodeling and regeneration are highly regulated multistep processes involving posttranscriptional regulation by microRNAs (miRNAs). Here, we performed a global profiling of differentially expressed miRNAs in bone-marrow-derived skeletal cells (BMSCs; also known as stromal or mesenchymal stem cells) during in vitro osteoblast differentiation. We functionally validated the regulatory effects of several miRNAs on osteoblast differentiation and identified 15 miRNAs, most significantly miR-222 and miR-423, as regulators of osteoblastogenesis...
December 5, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/29330944/improvement-of-islet-function-and-survival-by-integration-of-perfluorodecalin-into-microcapsules-in-vivo-and-in-vitro
#5
Sang-Ho Lee, Heon-Seok Park, Yeoree Yang, Eun-Young Lee, Ji-Won Kim, Gilson Khang, Kun-Ho Yoon
Hypoxic injury of islets is a major obstacle for encapsulated islet transplantation into the peritoneal cavity. To improve oxygen delivery to encapsulated islets, we integrated 20% of the oxygen carrier material, perfluorodecalin (PFD), in alginate capsules mixed with islets (PFD-alginate). Integration of PFD clearly improved islet viability and decreased reactive oxygen species production compared to islets encapsulated with alginate only (alginate) and naked islets exposed to hypoxia in vitro. In PFD-alginate capsules, HIF-1α expression was minimal, and insulin expression was well maintained...
January 12, 2018: Journal of Tissue Engineering and Regenerative Medicine
https://www.readbyqxmd.com/read/29330135/apbb2-is-associated-with-amphetamine-use-and-plasma-beta-amyloids-in-patients-receiving-methadone-maintenance-treatment
#6
Chia-Chen Liu, Chiu-Ping Fang, Tung-Hsia Liu, Hsiang-Wei Kuo, Shu Chi Liu, Sheng-Chang Wang, Andrew C H Chen, Yu-Li Liu
APBB2, amyloid beta (A4) precursor protein-binding family B member 2, has been reported to be associated with opioid dependence. In this study, we reported the first time that the genetic variants in the APBB2 gene were associated with use of amphetamine in opioid dependent patients undergoing methadone maintenance treatment (MMT). 344 heroin-dependent patients undergoing MMT were recruited and assessed for use of amphetamine and opioids by urine toxicology, withdrawal severity, and side effects. DNAs were genome-widely genotyped for all patients...
January 9, 2018: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/29329749/assessment-of-the-diagnostic-performance-of-four-methods-for-the-detection-of-giardia-duodenalis-in-fecal-samples-from-human-canine-and-feline-carriers
#7
Flávia Fernandes de Mendonça Uchôa, Adriana Pittella Sudré, Sabrina Destri Emmerick Campos, Nádia Regina Pereira Almosny
Enteric parasitic diseases including giardiasis are of public health concern. Different methods are available for the diagnosis of this parasitic infection in fecal samples such as the identification of protozoan cysts and trophozoites by light microscopy, detection of specific antigens by ELISA, and amplification of DNA fragments by PCR. The present study aimed at assessing the performance of four laboratory tests for the detection of Giardia duodenalis in fecal specimens from three different host species with a previous diagnosis of giardiasis; canine, feline and human patients provided new stool samples to be retested for Giardia before initiating treatment with antiprotozoal drugs...
January 9, 2018: Journal of Microbiological Methods
https://www.readbyqxmd.com/read/29329274/current-technologies-of-electrochemical-immunosensors-perspective-on-signal-amplification
#8
REVIEW
Il-Hoon Cho, Jongsung Lee, Jiyeon Kim, Min-Soo Kang, Jean Kyung Paik, Seockmo Ku, Hyun-Mo Cho, Joseph Irudayaraj, Dong-Hyung Kim
An electrochemical immunosensor employs antibodies as capture and detection means to produce electrical charges for the quantitative analysis of target molecules. This sensor type can be utilized as a miniaturized device for the detection of point-of-care testing (POCT). Achieving high-performance analysis regarding sensitivity has been one of the key issues with developing this type of biosensor system. Many modern nanotechnology efforts allowed for the development of innovative electrochemical biosensors with high sensitivity by employing various nanomaterials that facilitate the electron transfer and carrying capacity of signal tracers in combination with surface modification and bioconjugation techniques...
January 12, 2018: Sensors
https://www.readbyqxmd.com/read/29327399/plga-mpeg-nanoparticles-loaded-with-melatonin-protect-adipose-derived-stem-cells-transplanted-in-infarcted-heart-tissue
#9
Qiang Ma, Junjie Yang, Xu Huang, Weisheng Guo, Sulei Li, Hao Zhou, Jingwei Li, Yundai Chen
Stem cell transplantation is a promising therapeutic strategy for myocardial infarction. However, transplanted cells face low survival rates due to oxidative stress and the inflammatory microenvironment in ischemic heart tissue. Melatonin has been used as a powerful endogenous antioxidant to protect cells from oxidative injury. However, melatonin cannot play a long lasting effect against the hostile microenvironment. Nano drug delivery carriers have the ability to protect the loaded drug from degradation in physiological environments in a controlled manner, which results in longer effects and decreased side effects...
January 12, 2018: Stem Cells
https://www.readbyqxmd.com/read/29327352/ultrasound-findings-provide-clues-to-investigate-founder-mutations-expressed-as-runs-of-homozygosity-in-chromosomal-microarray-studies
#10
Hagit Daum, Israela Lerer, Ayala Frumkin, Daniel Rosenak, Nili Yanai, Shay Porat, Simcha Yagel, Vardiella Meiner
OBJECTIVES: Chromosomal microarray (CMA) analysis is effectively applied prenatally to detect copy number changes. SNP probes included in the microarray platform can detect regions of excessive homozygosity (ROH) and identical-by-descent genomic stretches. The utility of the latter as part of prenatal diagnosis is not well established. Recessive founder mutations are well recognized within distinct ethnic groups. Combining these data with prenatal sonography provides accurate focused molecular diagnoses quickly...
January 11, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29327264/inline-uv-vis-spectroscopy-as-pat-tool-for-hot-melt-extrusion
#11
Jens Wesholowski, Sebastian Prill, Andreas Berghaus, Markus Thommes
Hot-melt extrusion on co-rotating twin screw extruders is a focused technology for the production of pharmaceuticals in the context of Quality by Design. Since it is a continuous process, the potential for minimizing product quality fluctuation is enhanced. A typical application of hot-melt extrusion is the production of solid dispersions, where an active pharmaceutical ingredient (API) is distributed within a polymer matrix carrier. For this dosage form, the product quality is related amongst others to the drug content...
January 11, 2018: Drug Delivery and Translational Research
https://www.readbyqxmd.com/read/29326107/tcf7l2-genetic-variation-augments-incretin-resistance-and-influences-response-to-a-sulfonylurea-and-metformin-the-study-to-understand-the-genetics-of-the-acute-response-to-metformin-and-glipizide-in-humans-sugar-mgh
#12
Shylaja Srinivasan, Varinderpal Kaur, Bindu Chamarthi, Katherine R Littleton, Ling Chen, Alisa K Manning, Jordi Merino, Melissa K Thomas, Margo Hudson, Allison Goldfine, Jose C Florez
OBJECTIVE: The rs7903146 T allele in transcription-factor-7-like-2 (TCF7L2) is strongly associated with type 2 diabetes (T2D), but the mechanisms for increased risk remain unclear. We evaluated the physiologic and hormonal effects of TCF7L2 genotype before and after interventions that influence glucose physiology. RESEARCH DESIGN AND METHODS: We genotyped rs7903146 in 608 individuals without diabetes and recorded biochemical data before and after one dose of glipizide (5 mg) on visit 1, and a 75-g oral glucose tolerance test (OGTT) performed after administration of metformin 500 mg twice daily over 2 days...
January 11, 2018: Diabetes Care
https://www.readbyqxmd.com/read/29326081/macromolecule-nanotherapeutics-approaches-and-challenges
#13
REVIEW
Puneet Tyagi, Jose Luis Santos
With the advent of technology, newer forms of drugs, such as proteins, DNA, and RNA, have entered mainstream product development. However, systemic delivery of macromolecules is limited by rapid blood clearance, poor stability in vivo, and inadequate uptake by cells. Nanoparticle (NP)-based delivery systems have emerged as suitable carriers for overcoming such pharmacokinetic limitations of macromolecule delivery. Nanocarriers, such as liposomes, provide protection for sensitive drug materials and also enhance the circulation half-life of=therapeutics...
January 8, 2018: Drug Discovery Today
https://www.readbyqxmd.com/read/29325736/differential-association-of-dennd1agenetic-variants-with-polycystic-ovary-syndrome-in-tunisian-but-not-bahraini-arab-women
#14
Meriem Dallel, Sameh Sarray, Zeineb Douma, Feten Hachani, Abrar K Al-Ansari, Dhafer B Letaifa, Touhami Mahjoub, Wassim Y Almawi
BACKGROUND AND AIM: Polycystic ovary syndrome (PCOS) is a common endocrine disorder, and results from interaction between modifiable and non-modifiable factors, including genetic predisposition. Previous genome-wide association studies and meta-analysis identified DENND1A as PCOS susceptibility locus in some, but not all populations. We investigated whether the association of DENND1A gene variants with PCOS was similar between Tunisian and Bahraini Arab women. SUBJECTS AND METHODS: This was retrospective case-control study...
January 8, 2018: Gene
https://www.readbyqxmd.com/read/29325626/fragile-x-syndrome-and-fragile-x-associated-tremor-ataxia-syndrome
#15
Deborah A Hall, Elizabeth Berry-Kravis
Fragile X-associated disorders encompass several conditions, which are caused by expansion mutations in the fragile X mental retardation 1 (FMR1) gene. Fragile X syndrome is the most common inherited etiology of intellectual disability and results from a full mutation or >200 CGG repeats in FMR1. It is associated with developmental delay, autism spectrum disorder, and seizures. Fragile X-associated tremor/ataxia syndrome is a progressive neurodegenerative disease that occurs in premutation carriers of 55-200 CGG repeats in FMR1 and is characterized by kinetic tremor, gait ataxia, parkinsonism, executive dysfunction, and neuropathy...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29324801/clinical-characteristics-and-registry-validated-extended-pedigrees-of-germline-tp53-mutation-carriers-in-denmark
#16
Ulrik Stoltze, Anne-Bine Skytte, Henriette Roed, Henrik Hasle, Bent Ejlertsen, Thomas van Overeem Hansen, Kjeld Schmiegelow, Anne-Marie Gerdes, Karin Wadt
INTRODUCTION: TP53 mutation carrier (Li-Fraumeni Syndrome, LFS) cohort studies often suffer from lack of extensive pedigree exploration. METHODS: We performed a nation-wide exploration of TP53 mutation carrier families identified through all clinical genetics departments in Denmark. Pedigrees were expanded and verified using unique national person identification, cancer, cause of death, pathology, and church registries. RESULTS: We identified 30 confirmed, six obligate and 14 assumed carriers in 15 families harboring 14 different mutations, including five novel and three de novo germline mutations...
2018: PloS One
https://www.readbyqxmd.com/read/29323874/a-strategy-of-solution-processed-all-inorganic-heterostructure-for-humidity-temperature-stable-perovskite-quantum-dot-light-emitting-diodes
#17
Zhifeng Shi, Sen Li, Ying Li, Huifang Ji, Xinjian Li, Di Wu, Tingting Xu, Yongsheng Chen, Yongtao Tian, Yuantao Zhang, Chongxin Shan, Guotong Du
Recently, an pressing requirement of solid-state lighting sources with high-performance and low-cost has motivated increasing research in metal halide perovskites. But the relatively low emission efficiency and poor operation stability of perovskite light-emitting diodes (LEDs) are still critical drawbacks. In this study, a strategy of solution-processed all-inorganic-heterostructure was proposed to overcome the emission efficiency and operation stability issues facing perovskite LEDs' challenges. Solution-processed n-ZnO nanoparticles and p-NiO are used as the carrier-injectors to fabricate all-inorganic-heterostructured CsPbBr3 quantum dot LEDs, and a high-efficiency green emission is achieved with maximum luminance of 6093...
January 11, 2018: ACS Nano
https://www.readbyqxmd.com/read/29323605/outcomes-for-gestational-carriers-versus-traditional-surrogates-in-the-united-states
#18
Erika L Fuchs, Abbey B Berenson
BACKGROUND: Little is known about the obstetric and procedural outcomes of traditional surrogates and gestational carriers. MATERIALS AND METHODS: Participants included 222 women living in the United States who completed a brief online survey between November 2015 and February 2016. Differences between gestational carriers (n = 204) and traditional surrogates (n = 18) in demographic characteristics, pregnancy outcomes, and procedural outcomes were examined using chi-squared tests, Fisher's exact tests, and t-tests...
January 11, 2018: Journal of Women's Health
https://www.readbyqxmd.com/read/29322490/the-rs75932628-and-rs2234253-polymorphisms-of-the-trem2-gene-were-associated-with-susceptibility-to-frontotemporal-lobar-degeneration-in-caucasian-populations
#19
Wen-Hua Su, Zhi-Hong Shi, Shu-Ling Liu, Xiao-Dan Wang, Shuai Liu, Yong Ji
Polymorphisms of the triggering receptor expressed on myeloid cells 2 (TREM2) gene have been reported to be potentially associated with the risks of developing frontotemporal lobar degeneration (FTLD), with inconsistent conclusions. This study aims to comprehensively investigate the potential role of TREM2 variants in FTLD risks via a meta-analysis. We included a total of eight eligible articles. For TREM2 rs75932628, we observed a significantly increased FTLD risk in the models of T vs. C [Association Test, odds ratio (OR) = 2...
January 10, 2018: Annals of Human Genetics
https://www.readbyqxmd.com/read/29321671/preconception-carrier-screening-for-multiple-disorders-evaluation-of-a-screening-offer-in-a-dutch-founder-population
#20
Inge B Mathijssen, Kim C A Holtkamp, Cecile P E Ottenheim, Janneke M C van Eeten-Nijman, Phillis Lakeman, Hanne Meijers-Heijboer, Merel C van Maarle, Lidewij Henneman
Technological developments have enabled carrier screening for multiple disorders. This study evaluated experiences with a preconception carrier screening offer for four recessive disorders in a Dutch founder population. Questionnaires were completed by 182 attendees pretesting and posttesting and by 137 non-attendees. Semistructured interviews were conducted with seven of the eight carrier couples. Attendees were mainly informed about the existence of screening by friends/colleagues (49%) and family members (44%)...
January 10, 2018: European Journal of Human Genetics: EJHG
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