Keywords: CK; Creatinine kinase; CRIM; Cross-reactive immunologic material; ERT; Enzyme-replacement therapy; GAA; Acid α-glucosidase; IOPD; Infantile-onset Pompe disease; LVMI; Left ventricular mass index; MRI; Magnetic resonance imaging; NBS; Newborn screening; P
مقالات ISI (ترجمه نشده)
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Keywords: Covariance matrix; Graphical lasso; NBS; Precision matrix; rs-fMRI; Sparse estimation; SPU tests; Statistical power
Keywords: 2DE; two-dimensional gel electrophoresis; APAF1; apoptotic protease-activating factor 1; CDWE; cell wall-degrading enzymes; CED4; cell death protein 4; ChIP seq; chromatin immunoprecipitation-sequencing; CoIP; co-immunoprecipitation; DIGE; fluorescence di
Keywords: ASSC; Acute splenic sequestration crisis; HbF; Fetal hemoglobin; HbS; Sickle hemoglobin; HbSS; Hemoglobin SS; NBS; Newborn screening; SCA; Sickle cell anemia;
Keywords: 17OHP; 17-hydroxyprogesterone; CAH; Congenital adrenal hyperplasia; FIA; Fluoroimmunoassay; FN; False negative; FP; False positive; FPR; False positive rate; LC-MS/MS; Liquid chromatography-tandem mass spectrometry; NBS; Newborn screening; NICU; Neonatal
Keywords: NBS; newborn screening; TMS; tandem mass spectrometry; DBS; dried blood spots; OA; organic acidaemias; PA; propionic acidaemia; IVA; isovaleric acidaemia; MMA; methylmalonic acidaemia; UCD; urea cycle disorders; CIT-I; argininosuccinate synthetase deficie
Keywords: CF; cystic fibrosis; NBS; newborn screening; ADHD; attention deficit hyperactivity; RCT; randomized control trial; IRB; Institutional Review Board; BASC-2; Behavioral Assessment System for Children - Second Edition; PRQ; Parenting Relationship Questionn
Keywords: Banana lectin; Unfolding sequence; Structured intermediate; Random coil; Natively unfolded state; Banlec; banana lectin; GdnHCl; guanidine hydrochloride; ANS; 8-anilino-1-naphthalenesulfonate; NBS; N-bromosuccinimide; PBS; 10Â mM sodium phosphate buffered
Keywords: CORN; Council of Regional Networks for Genetic Services; DSHEA; Dietary Supplement Health and Education Act; HRSA; Health Resources and Services Administration; IEM; inborn errors of metabolism; MS/MS; tandem mass spectrometry; NBS; newborn screening; NCH
Keywords: ADWEA; Abu Dhabi Water and Electricity Authority; ADWEC; Abu Dhabi Water and Electricity Company; ANS; American Nuclear Society; BWR; Boiling Water Reactors; CCGT; Combined Cycle Gas Turbine; CSIS; Center for Strategic and International Studies; CSP; Conc
Keywords: HIF-1; hypoxia-inducible factor-1; VHL; von Hippel-Lindau; PHD; prolyl hydroxylase; HTS; high-throughput screening; NBS; N-bromosuccinimide; MNBA; 2-methyl-6-nitrobenzoic anhydride; DIBAL; diisobutylaluminum hydride; VEGF-PLAP; vascular endothelial grow
Keywords: NBS; Newborn screening; SERC; Southeast NBS and Genetics Regional Collaborative;
Keywords: BRCT; BRCA1 C-Terminus; DSB; DNA double-strand break; LCL; lymphoblastoid cell line; NBN; nibrin; NBS; Nijmegen breakage syndrome; PMN; piecemeal microautophagy of the nucleus; RT-PCR; reverse transcription polymerase chain reaction; DNA repair; Proteasom
Keywords: FT4; Free thyroxine; LTFU; Lost-to-follow-up; MDCH; Michigan Department of Community Health; NBS; Newborn screening; NICU; Neonatal intensive care unit; TSH; Thyroid-stimulating hormone;
Keywords: CF; Cystic fibrosis; CFTR; CF transmembrane conductance regulator; COR; Clinician of record; FTE; Full-time equivalent; IRT; Immunoreactive trypsinogen; NBS; Newborn screening; PCP; Primary care provider;
Keywords: Multivariate analysis; Health surveys; Hip replacement arthroplasty; Osteoarthritis; Quality of life; Rehabilitation; BMI; body mass index; BP; bodily pain; CL; canonical loading; GH; general health perceptions; HRQOL; health-related quality of life; MH;
Keywords: Soybean agglutinin; β-Sheet lectin; Protein stability; Solvent perturbation; SBA; soybean agglutinin, lectin from soybean (Glycine max); TFE; 2,2,2-trifluoroethanol; CD; circular dichroism; FTIR; Fourier transform infrared; NBS; N-bromosuccinimide;
Keywords: Ac; acetyl; acac; acetylacetonate; 9-BBN; 9-borabicyclo[3.3.1]nonane; Bn; benzyl; Boc; tert-butyloxycarbonyl; BOM; benzyloxymethyl; brsm; based on recovered starting material; Bz; benzoyl; CAN; ammonium cerium(IV) nitrate; Cbz; benzyloxycarbonyl; CD; circ
Differentiating responders and non-responders to rTMS treatment for depression after one week using resting EEG connectivity measures
Keywords: Transcranial magnetic stimulation; Treatment resistant depression; Electroencephalography; Theta; Alpha; rTMS; repetitive transcranial magnetic stimulation; fMRI; functional magnetic resonance imaging; ACC; anterior cingulate cortex; DLPFC; dorsolateral p
Systematic analysis of oxide trap distribution of 4H-SiC DMOSFETs using TSCIS and its correlation with BTI and SILC behavior
Keywords: SiC; Oxide trap; TSCIS; DMOSFET; SILC; NBTI; NBS; FN tunneling;
High incidence of low vitamin B12 levels in Estonian newborns
Keywords: Newborn screening; Tandem mass spectrometry; Congenital vitamin B12 deficiency; Elevated propionylcarnitine; NBS; newborn screening; MMA; methylmalonic acid; tHcy; total homocysteine; MS; mass spectrometry; DBS; dried blood spots; C3; propionylcarnitine;
NBS-mediated practical cyclization of N-acyl amidines to 1,2,4-oxadiazoles via oxidative NâO bond formation
Keywords: NBS; NâO bond formation; 1,2,4-Oxadiazole; N-acyl amidine; Ethyl acetate;
Early life growth patterns persist for 12â¯years and impact pulmonary outcomes in cystic fibrosis
Keywords: BMIz; age- and sex-specific z-scores for body mass index; CF; cystic fibrosis; CXR; chest radiograph; FEV1; forced expiratory volume in 1â¯s; HTz; age- and sex-specific z-scores for length (<2â¯years) or height (â¥2â¯years); I6; non-responders whose g
Enhancement of intrinsic fluorescence of human carbonic anhydrase II upon topiramate binding: Some evidence for drug-induced molecular contraction of the protein
Keywords: ANS; 1-anilinonaphthalene-8-sulfonate; CA; carbonic anhydrase; CD; circular dichroism; hCA II; human carbonic anhydrase II; NBS; N-bromosuccinimde; PSH; protein surface hydrophobicity; TPM; topiramate; Fluorescence enhancement; Human carbonic anhydrase II
DNA damage, metabolism and aging in pro-inflammatory T cells
Keywords: EC; endothelial cell; ROS; reactive oxygen species; ATP; adenosine 5â²-triphosphate; ER; endoplasmic reticulum; mtDNA; mitochondrial DNA; ETC; electron transport chain; mROS; mitochondrial ROS; NADPH; nicotinamide adenine dinucleotide phosphate; TNF-α;
Integrating plant and animal biology for the search of novel DNA damage biomarkers
Keywords: ARP; actin related protein; ASK; Arabidopsis SPK1-like; At; Arabidopsis thaliana; ATAF; arabidopsis transcription activation factor; ATM; ataxia telangiectasia mutated; ATR; ATM and Rad3-related; ATRIP; ATR-interacting protein; BARD; BRCA1-associated RING
Improving the catalytic efficiency of Fibrinolytic enzyme from Serratia marcescens subsp. sakuensis by chemical modification
Keywords: CAD; coronary artery disease; VTE; venous thromboembolism; tPA; tissue-type plasminogen activator; uPA; urokinase-type plasminogen activator; SK; streptokinase; DEPC; Diethylpyrocarbonate; DTNB; 5, 5-Dithio-bis-(2-nitrobenzoic) acid; EDAC; 1-Ethyl-3-(3-di
Neuromodulators for Functional Gastrointestinal Disorders (Disorders of GutâBrain Interaction): A Rome Foundation Working Team Report
Keywords: Functional Gastrointestinal Disorders; Central Neuromodulators; Antidepressants; Antipsychotics; Disorders of Gut Brain Interaction; Chronic Abdominal Pain; CBT; cognitive behavioral therapy; CNS; central nervous system; CVS; cyclic vomiting syndrome; D2;
Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders
Keywords: Ataxia-telangiectasia; Cernunnos-XLF deficiency; DNA repair disorders; DNA ligase IV deficiency; hematopoietic stem cell transplantation; Nijmegen breakage syndrome; aGvHD; Acute graft-versus-host disease; AT; Ataxia-telangiectasia; ATG; Anti-thymocyte gl
Design, synthesis and biological evaluation of a novel tubulin inhibitor 7a3 targeting the colchicine binding site
Keywords: Tubulin inhibitor; Colchicine binding site; Combretastatin A-4; Pyrazole analogue; Anti-tumour; Co-crystal structure; ABC; ATP-binding cassette; P-gp; P-glycoprotein; MRP; multidrug resistant proteins; CA-4; combretastatin A-4; SARs; structure-activity re
Trends in CO2 conversion and utilization: A review from process systems perspective
Keywords: Ar; argon; ASU; air separation unit; ATR; auto-thermal reforming; BiR; bi-reforming; BPO; benzoyl peroxide; BTL; biomass to liquid; CCS; carbon capture and storage; CCU; CO2 capture and utilization; CCUS; CO2 capture sequestration and utilization; CFA; ca
Impact of obesity and overweight on DNA stability: Few facts and many hypotheses
Keywords: AGEs; advanced glycation end products; AP-1; activating protein -1; APE1; apurinic/apyrimidinic endonuclease 1; BER; base excision repair; BMI; body mass index; CAF; cafeteria diet; CAT; Catalase; CBMN-Cyt; cytokinesis block micronucleus cytome assay; CEL
Discovery and evaluation of Cav3.1-selective T-type calcium channel blockers
Keywords: AcOH; acetic acid; 9-BBN; 9-borabicyclo(3.3.1)nonane; DAST; diethylaminosulfur trifluoride; DIPEA; N,N-diisopropylethylamine; DMAP; 4-(dimethylamino)pyridine; DMF; N,N-dimethylformamide; EDC·HCl; 1-ethyl-3-(3-dimethylaminopropyl)carbodiimide hydrochlorid
Newborn screening for severe combined immunodeficiency using a novel and simplified method to measure T-cell excision circles (TREC)
Keywords: SCID; Severe Combined Immunodeficiency; DBSs; dried blood spots; NBS; newborn screening; TRECs; T-cell receptor excision circles; ADA-SCID; Adenosine deaminase deficiency; JAK3; Janus kinase 3, Tyrosine-protein kinase; ATG; antithymocyte globulin; Newborn
Green synthesis of 2-hydrazonyl-4-phenylthiazoles using KIT-6 mesoporous silica coated magnetite nanoparticles
Keywords: Thiazole; Acetophenone; Thiosemicarbazide; NBS; KIT-6 mesoporous;
Discovery and evaluation of Cav3.2-selective T-type calcium channel blockers
Keywords: AcOH; acetic acid; Boc; tert-butylocycarbonyl; DIPEA; N,N-diisopropylethylamine; DMAP; 4-(dimethylamino)pyridine; DMF; N,N-dimethylformamide; EDC·HCl; 1-ethyl-3-(3-dimethylaminopropyl)carbodiimide hydrochloride; HOBt; hydroxybenzotriazole; KHMDS; potassi
NBS mediated protocol for the synthesis of N-bridged fused heterocycles in water
Keywords: Heterocycle; Diketone; NBS; Water;
The reduction of Chlorella vulgaris concentrations through UV-C radiation treatments: A nature-based solution (NBS)
Keywords: Algal concentration; UV radiation; HAB; Mortality; Density-dependent; NBS; Modeling;
Psychosine, a marker of Krabbe phenotype and treatment effect
Keywords: EIKD; early-infantile Krabbe disease; KD; Krabbe disease; LIKD; late-infantile Krabbe disease; NBS; newborn screening; HSCT; hematopoietic stem cell transplantation; Krabbe disease; Globoid cell leukodystrophy; Psychosine; Galactosylsphingosine; Newborn s
Cardioprotective effect of an exopolysaccharide from Lachnum YM130 and its derivatives on diabetic mice
Keywords: DM; diabetes mellitus; STZ; streptozotocin; SOD; superoxide dismutase; GPx; glutathione peroxidase; CAT; catalase; MDA; malondialdehyde; AGEs; advanced glycation end products; hs-CRP; high-sensitivity CRP; sICAM-1; intercellular adhesion molecule-1; NO; n
Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management
Keywords: CNS; Central nervous system; DBS; Dried blood spot; ERT; Enzyme replacement therapy; GAG; Glycosaminoglycan; HSCT; Hematopoietic stem cell transplantation; IDUA; α-L-iduronidase; MPS; Mucopolysaccharidoses; MPS I; Mucopolysaccharidosis type I; MRI; Magne
Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13TÂ >Â G “late-onset” GAA variant
Keywords: NBS; Newborn screening; IOPD; Infantile onset Pompe disease; LOPD; Late onset Pompe disease; GAA; Acid α-glucosidase; ERT; Enzyme replacement therapy; RUSP; Recommended uniform screening panel; CK; Creatine kinase; Glc4; Urinary glucose tetrasaccharide;
Identification and characterization of expressed TIR- and non-TIR-NBS-LRR resistance gene analogous sequences from radish (Raphanus sativus L.) de novo transcriptome
Keywords: ABA; abscisic acid; BLAST; basic local alignment search tool; EST; expressed sequence tag; LRR; leucine-rich repeat; MeJA; methyl jasmonate; NBS; nucleotide-binding site; RGA; resistance gene analogue; RT-qPCR; reverse transcription quantitative polymeras
Maspin inhibits macrophage phagocytosis and enhances inflammatory cytokine production via activation of NF-κB signaling
Keywords: Arg-1; arginase 1; CM; conditioned medium; FITC; fluorescein isothiocyanate; GAPDH; glyceraldehyde-3-phosphate dehydrogenase; iNOS; inducible nitric oxide synthase; IFN; interferon; IKK; inhibitor of NF-κB kinase; IκB; inhibitor of NF-κB; LPS; lipopoly
Opioids in Gastroenterology: Treating Adverse Effects and Creating Therapeutic Benefits
Keywords: Opiates; Narcotic; Motility; BFI; bowel function index; FDA; Food and Drug Administration; IBS; irritable bowel syndrome; LES; lower esophageal sphincter; NBS; narcotic bowel syndrome; OIC; opioid-induced constipation; PAMORA; peripherally acting mu opioi
Inscuteable maintains type I neuroblast lineage identity via Numb/Notch signaling in the Drosophila larval brain
Keywords: Drosophila larval brain neuroblasts (NBs); Inscuteable (Insc); NB lineage maintenance; Type I and type II NBs; Numb/Notch signaling; Ase; Asense; Dpn; Deadpan; Erm; Earmuff; GMCs; ganglion mother cells; INPs; intermediate neural progenitors; Insc; Inscute
Short range order characterization of the Na2SÂ +Â SiS2 glass system using Raman, infrared and 29Si magic angle spinning nuclear magnetic resonance spectroscopies
Keywords: Sulfide glasses; Thiosilicates; Fast ion conducting glasses; Solid state electrolyte; Sodium ion; Raman spectroscopy; Infrared spectroscopy; 29Si MAS NMR spectroscopy; MAS NMR; magic angle spinning nuclear magnetic resonance; MIR; mid infrared; FIR; far i
Treatment of estrogen-dependent diseases: Design, synthesis and profiling of a selective 17β-HSD1 inhibitor with sub-nanomolar IC50 for a proof-of-principle study
Keywords: 17β-Hydroxysteroid dehydrogenase type 1; Enzyme inhibitor; Steroidogenic enzymes; Estrogen-dependent disease; Intracrinology; (h)17β-HSD1; (human) 17β-hydroxysteroid dehydrogenase type 1; (h)17β-HSD2; (human) 17β-hydroxysteroid dehydrogenase type 2;
Identification of a new class of potent Cdc7 inhibitors designed by putative pharmacophore model: Synthesis and biological evaluation of 2,3-dihydrothieno[3,2-d]pyrimidin-4(1H)-ones
Keywords: Cell division cycle 7 (Cdc7); Pharmacophore model; Dihydrothieno[3,2-d]-pyrimidin-4(1H)-one; CSA; (+/â)-camphor-10-sulfonic acid; DCM; dichloromethane; DMA; N,N-dimethylacetamide; DME; 1,2-dimethoxyethane; DMF; N,N-dimethylformamide; DMSO; dimethyl sulf
Design and optimization of aspartate N-acetyltransferase inhibitors for the potential treatment of Canavan disease
Keywords: ANAT; aspartate N-acetyltransferase; CD; Canavan disease; DCM; dichloromethane; DTNB; dithionitrobenzoate; EDCl; 1-ethyl-3-(3-(dimethylamino)propyl)carbodiimide; HEPES; 4-(2-hydroxyethyl)piperazine-1-ethanesulfonic acid; IPTG; isopropyl-β-thiogalactoside