61962

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Showing 1-30 of 272 results for "61962" within Papers

Impairment of social behavior and communication in mice lacking the Uba6-dependent ubiquitin activation system.

Ji Yeon Lee et al.

Behavioural brain research, 281, 78-85 (2014-12-20)

The Uba6-Use1 ubiquitin enzyme cascade is a poorly understood arm of the ubiquitin-proteasome system required for mouse development. Recently, we reported that Uba6 brain-specific knockout (termed NKO) mice display abnormal social behavior and neuronal development due to a decreased spine

"Paper Machine" for Molecular Diagnostics.

John T Connelly et al.

Analytical chemistry, 87(15), 7595-7601 (2015-06-25)

Clinical tests based on primer-initiated amplification of specific nucleic acid sequences achieve high levels of sensitivity and specificity. Despite these desirable characteristics, these tests have not reached their full potential because their complexity and expense limit their usefulness to centralized

Investigating multiple candidate genes and nutrients in the folate metabolism pathway to detect genetic and nutritional risk factors for lung cancer.

Michael D Swartz et al.

PloS one, 8(1), e53475-e53475 (2013-02-02)

Folate metabolism, with its importance to DNA repair, provides a promising region for genetic investigation of lung cancer risk. This project investigates genes (MTHFR, MTR, MTRR, CBS, SHMT1, TYMS), folate metabolism related nutrients (B vitamins, methionine, choline, and betaine) and

FMR1 Reactivating Treatments in Fragile X iPSC-Derived Neural Progenitors In Vitro and In Vivo.

Dan Vershkov et al.

Cell reports, 26(10), 2531-2539 (2019-03-07)

Fragile X syndrome (FXS) is caused primarily by a CGG repeat expansion in the FMR1 gene that triggers its transcriptional silencing. In order to investigate the regulatory layers involved in FMR1 inactivation, we tested a collection of chromatin modulators for

Enhanced biosensing resolution with foundry fabricated individually addressable dual-gated ISFETs.

Carlos Duarte-Guevara et al.

Analytical chemistry, 86(16), 8359-8367 (2014-07-30)

The adaptation of semiconductor technologies for biological applications may lead to a new era of inexpensive, sensitive, and portable diagnostics. At the core of these developing technologies is the ion-sensitive field-effect transistor (ISFET), a biochemical to electrical transducer with seamless

Examining gene-environment interactions in comorbid depressive and disruptive behavior disorders using a Bayesian approach.

Molly Adrian et al.

Journal of psychiatric research, 68, 125-133 (2015-08-01)

The objective of this study was to apply a Bayesian statistical analytic approach that minimizes multiple testing problems to explore the combined effects of chronic low familial support and variants in 12 candidate genes on risk for a common and

Survival and psychomotor development with early betaine treatment in patients with severe methylenetetrahydrofolate reductase deficiency.

Eugene F Diekman et al.

JAMA neurology, 71(2), 188-194 (2013-12-11)

The impact of betaine treatment on outcome in patients with severe methylenetetrahydrofolate reductase (MTHFR) deficiency is presently unclear. To investigate the effect of betaine treatment on development and survival in patients with severe MTHFR deficiency. MEDLINE, EMBASE, and Cochrane databases

The different effects of starch synthase IIa mutations or variation on endosperm amylose content of barley, wheat and rice are determined by the distribution of starch synthase I and starch branching enzyme IIb between the starch granule and amyloplast stroma.

Jixun Luo et al.

TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik, 128(7), 1407-1419 (2015-04-22)

The distribution of starch synthase I and starch branching enzyme IIb between the starch granule and amyloplast stroma plays an important role in determining endosperm amylose content of cereal grains. Starch synthase IIa (SSIIa) catalyses the polymerisation of intermediate length

Co-administration of methyl donors along with guanidinoacetic acid reduces the incidence of hyperhomocysteinaemia compared with guanidinoacetic acid administration alone.

Sergej M Ostojic et al.

The British journal of nutrition, 110(5), 865-870 (2013-01-29)

Guanidinoacetic acid (GAA) is the natural biosynthetic precursor of creatine, in a metabolic reaction that requires only a methyl group transfer. The use of GAA as a food additive for restoring creatine load in human tissues is rather unexplored and

Structure and function of the betaine uptake system BetP of Corynebacterium glutamicum: strategies to sense osmotic and chill stress.

Susanne Morbach et al.

Journal of molecular microbiology and biotechnology, 10(2-4), 143-153 (2006-04-29)

The soil bacterium Corynebacterium glutamicum has to cope with frequent fluctuations of the external osmolarity and temperature. The consequences of hyperosmotic and chill stress seem to differ, either causing dehydration of the cytoplasm or leading to impairment of cellular functions

Associations between dietary intake of choline and betaine and lung cancer risk.

Jun Ying et al.

PloS one, 8(2), e54561-e54561 (2013-02-06)

Evidence from human and animal research indicates that choline metabolic pathways may be activated during a variety of diseases, including cancer. We report results of a case-control study of 2821 lung cancer cases and 2923 controls that assessed associations of

Rapid and Sensitive Detection of Vibrio alginolyticus by Loop-Mediated Isothermal Amplification Combined with a Lateral Flow Dipstick Targeted to the rpoX Gene.

Saranya Plaon et al.

Journal of aquatic animal health, 27(3), 156-163 (2015-07-30)

Vibrio alginolyticus is a major bacterial pathogen causing disease in marine animals. The present study aimed to develop a loop-mediated isothermal amplification (LAMP) coupled with a lateral flow dipstick (LFD) for rapid and simple visual detection of V. alginolyticus-specific amplicons.

Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome.

Christian R Marshall et al.

BMC genomics, 16 Suppl 1, S12-S12 (2015-04-30)

We report a consanguineous couple that has experienced three consecutive pregnancy losses following the foetal ultrasound finding of short limbs. Post-termination examination revealed no skeletal dysplasia, but some subtle proximal limb shortening in two foetuses, and a spectrum of mildly

Properties of targeted preamplification in DNA and cDNA quantification.

Daniel Andersson et al.

Expert review of molecular diagnostics, 15(8), 1085-1100 (2015-07-02)

Quantification of small molecule numbers often requires preamplification to generate enough copies for accurate downstream enumerations. Here, we studied experimental parameters in targeted preamplification and their effects on downstream quantitative real-time PCR (qPCR). To evaluate different strategies, we monitored the

A diffusion-based microfluidic device for single-cell RNA-seq.

Mimosa Sarma et al.

Lab on a chip, 19(7), 1247-1256 (2019-03-01)

Microfluidic devices provide a low-input and efficient platform for single-cell RNA-seq (scRNA-seq). Existing microfluidic devices have a complicated multi-chambered structure for handling the multi-step process involved in RNA-seq and dilution between steps is used to negate the inhibitory effects among

A deletion at ADAMTS9-MAGI1 locus is associated with psoriatic arthritis risk.

Antonio Julià et al.

Annals of the rheumatic diseases, 74(10), 1875-1881 (2015-05-21)

Copy number variants (CNVs) have been associated with the risk to develop multiple autoimmune diseases. Our objective was to identify CNVs associated with the risk to develop psoriatic arthritis (PsA) using a genome-wide analysis approach. A total of 835 patients

Screening of the Seed Region of MIR184 in Keratoconus Patients from Saudi Arabia.

Khaled K Abu-Amero et al.

BioMed research international, 2015, 604508-604508 (2015-09-18)

Micro-RNAs (miRNAs) are regulators of gene expression that control various biological processes. The role of many identified miRNAs is not yet resolved. Recent evidence suggests that miRNA mutations and/or misexpression may contribute to genetic disorders. Point mutations in the seed

Mga is essential for the survival of pluripotent cells during peri-implantation development.

Andrew J Washkowitz et al.

Development (Cambridge, England), 142(1), 31-40 (2014-12-18)

The maintenance and control of pluripotency is of great interest in stem cell biology. The dual specificity T-box/basic-helix-loop-helix-zipper transcription factor Mga is expressed in the pluripotent cells of the inner cell mass (ICM) and epiblast of the peri-implantation mouse embryo

Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.

Minal J Menezes et al.

Human molecular genetics, 24(8), 2297-2307 (2015-01-04)

Functional defects of the mitochondrial translation machinery, as a result of mutations in nuclear-encoded genes, have been associated with combined oxidative phosphorylation (OXPHOS) deficiencies. We report siblings with congenital sensorineural deafness and lactic acidemia in association with combined respiratory chain

Recognition of betaine as an inhibitor of lipopolysaccharide-induced nitric oxide production in activated microglial cells.

Banafsheh Amiraslani et al.

Iranian biomedical journal, 16(2), 84-89 (2012-07-18)

Neuroinflammation, as a major outcome of microglia activation, is an important factor for progression of neurodegenerative disorders including Alzheimer's disease and Parkinson's disease. Microglial cells, as the first-line defense in the central nervous system, act as a source of neurotoxic

Glycine betaine catabolism contributes to Pseudomonas syringae tolerance to hyperosmotic stress by relieving betaine-mediated suppression of compatible solute synthesis.

Shanshan Li et al.

Journal of bacteriology, 195(10), 2415-2423 (2013-03-26)

Many bacteria can accumulate glycine betaine for osmoprotection and catabolize it as a growth substrate, but how they regulate these opposing roles is poorly understood. In Pseudomonas syringae B728a, expression of the betaine catabolism genes was reduced by an osmotic

Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes.

Weijia Xie et al.

Diabetes, 62(6), 2141-2150 (2013-02-05)

Circulating metabolites associated with insulin sensitivity may represent useful biomarkers, but their causal role in insulin sensitivity and diabetes is less certain. We previously identified novel metabolites correlated with insulin sensitivity measured by the hyperinsulinemic-euglycemic clamp. The top-ranking metabolites were

Omega-3 fatty acids prevent the ketamine-induced increase in acetylcholinesterase activity in an animal model of schizophrenia.

Alexandra I Zugno et al.

Life sciences, 121, 65-69 (2014-12-17)

Schizophrenia is a debilitating neurodevelopmental disorder that is associated with dysfunction in the cholinergic system. Early prevention is a target of treatment to improve long-term outcomes. Therefore, we evaluated the preventive effects of omega-3 fatty acids on AChE activity in

Osmoprotectants suppress the production and activity of matrix metalloproteinases induced by hyperosmolarity in primary human corneal epithelial cells.

Ruzhi Deng et al.

Molecular vision, 20, 1243-1252 (2014-10-30)

Hyperosmolarity has been recognized as a proinflammatory stress in the pathogenesis of dry eye disease. This study investigated the suppressive effect of osmoprotectants (L-carnitine, erythritol, and betaine) on the production and activity of matrix metalloproteinases (MMPs) in primary human corneal

CRISPR-Cas12a-assisted PCR tagging of mammalian genes.

Julia Fueller et al.

The Journal of cell biology, 219(6) (2020-05-15)

Here we describe a time-efficient strategy for endogenous C-terminal gene tagging in mammalian tissue culture cells. An online platform is used to design two long gene-specific oligonucleotides for PCR with generic template cassettes to create linear dsDNA donors, termed PCR

An improved Diagnostic PCR Assay for identification of Cryptic Heterozygosity for CGG Triplet Repeat Alleles in the Fragile X Gene (FMR1).

Mahmoud S Khaniani et al.

Molecular cytogenetics, 1, 5-5 (2008-05-13)

Fragile X syndrome (OMIM #300624) is the most common, recognised, heritable cause of mental retardation. Widespread testing is warranted by the relatively high frequency of the disorder, the benefits of early detection and the identification of related carriers whose offspring

Full-length single-cell RNA-seq applied to a viral human cancer: applications to HPV expression and splicing analysis in HeLa S3 cells.

Liang Wu et al.

GigaScience, 4, 51-51 (2015-11-10)

Viral infection causes multiple forms of human cancer, and HPV infection is the primary factor in cervical carcinomas. Recent single-cell RNA-seq studies highlight the tumor heterogeneity present in most cancers, but virally induced tumors have not been studied. HeLa is

High prevalence of erythromycin-resistant Bordetella pertussis in Xi'an, China.

Z Wang et al.

Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases, 20(11), O825-O830 (2014-05-13)

Resistance of Bordetella pertussis, the causative agent of pertussis, to erythromycin is rare. Recently, several Chinese isolates were found to be erythromycin resistant. This study aimed to investigate the occurrence of pertussis in children suffering persistent cough and the prevalence

Elevated levels of plasma lipofuscins in patients with chronic renal failure.

Z L Hegedus et al.

Archives internationales de physiologie et de biochimie, 96(5), 211-221 (1988-12-01)

The fluorescence excitation and emission spectra observed in plasma from patients with chronic renal failure were reproduced by the generation of soluble lipofuscins in normal plasma samples by incubation with mixtures of L-dopa, dopamine, L-norepinephrine, L-epinephrine, 3-hydroxy-DL-kynurenine and 3-hydroxy-anthranilic acid

DNA methylation potential: dietary intake and blood concentrations of one-carbon metabolites and cofactors in rural African women.

Paula Dominguez-Salas et al.

The American journal of clinical nutrition, 97(6), 1217-1227 (2013-04-12)

Animal models show that periconceptional supplementation with folic acid, vitamin B-12, choline, and betaine can induce differences in offspring phenotype mediated by epigenetic changes in DNA. In humans, altered DNA methylation patterns have been observed in offspring whose mothers were

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