نتائج البحث - "Cbs, cystathionine β-synthase"

1

Analysis of 2-methylcitric acid, methylmalonic acid, and total homocysteine in dried blood spots by LC-MS/MS for application in the newborn screening laboratory: A dual derivatization approach

المؤلفون: Bojana Rakic, Hilary Vallance, Joshua A. Dubland, Graham Sinclair

المصدر: Journal of Mass Spectrometry and Advances in the Clinical Lab, Vol 20, Iss, Pp 1-10 (2021)
Journal of Mass Spectrometry and Advances in the Clinical Lab

مصطلحات موضوعية: Newborn screening, MS/MS, tandem mass spectrometry, 2-Methylcitric acid, Homocysteine, Clinical Biochemistry, rpm, revolutions per minute, Methylmalonic acid, Tandem mass spectrometry, MMA, methylmalonic acid, NBS, newborn screening, chemistry.chemical_compound, DMAP, 4-(dimethylamino)pyridine, Met, methionine, Liquid chromatography–mass spectrometry, HCl, hydrochloric acid, health care economics and organizations, DBS, dried blood spot, Spectroscopy, FA, formic acid, ESI, electrospray ionization, Second-tier, LC, liquid chromatography, food and beverages, Regular Article, Dried blood spot, Medical Laboratory Technology, Specimen collection, S/N, signal-to-noise, GC, gas chromatography, Phe, phenylalanine, DAABD-AE, 4-[2-(N,N-dimethylamino)ethylaminosulfonyl]-7-(2-aminoethylamino)-2,1,3-benzoxadiazole, LLOQ, lower limit of quantitation, Analyte, HCY, homocysteine, education, MCA, 2-methylcitric acid, Cbl, cobalamin, Microbiology, LLOD, lower limit of detection, GPCho’s, glycerophosphocholines, health services administration, EDC, N-(3-dimethylaminopropyl)-N′-ethylcarbodiimide hydrochloride, Medical technology, C2, acetylcarnitine, R855-855.5, Derivatization, CBS, cystathionine β-synthase, MPs, mobile phases, Chromatography, Mass spectrometry, C3, propionylcarnitine, PPV, positive predictive value, QC, quality control, MS, mass spectrometry, chemistry, DTT, dithiothreitol, MRM, multiple reaction monitoring

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50beebd48c7a916d499a13356b9284c0Test
https://doi.org/10.1016/j.jmsacl.2021.03.001Test

2

Targeting hydrogen sulphide signaling in breast cancer

المؤلفون: Nabil Ahmed, Khaled Sanber, Mohamed Z. Gad, Ahmed Z. Gad, Hafez Mohamed Hafez, Amira Abdel Motaal, Rana Ahmed Youness, Emad Khallaf, Gi-Ja Lee, Yong Jin Ahn

المصدر: Journal of Advanced Research
Journal of Advanced Research, Vol 27, Iss, Pp 177-190 (2021)

مصطلحات موضوعية: 0301 basic medicine, HCC, Hepatocellular carcinoma, Proliferation index, CTL, Cytotoxic T lymphocyte, CD86, Cluster of differentiation 86, ULBP2/5/6, UL16 binding protein 2/5/6, PD-L1, Programmed death-ligand 1, Breast cancer, 0302 clinical medicine, miR-155/NOS2/NO signaling pathway, NK, Natural killer, Hydrogen sulphide, TNF-α, Tumor necrosis factor-α, Cytotoxic T cell, miR-4317, Cytotoxicity, ncRNAs, Non-coding RNAs, MICA/B, MHC class I polypeptide-related sequence A/B, lcsh:R5-920, CAR T cells, Multidisciplinary, siRNAs, Small interfering RNAs, biology, CD80, Cluster of differentiation 80, Chemistry, Transfection, CAR, Chimeric antigen receptor, CBS, Cystathionine β-synthase, medicine.anatomical_structure, 41BBL, 41BB Ligand, 030220 oncology & carcinogenesis, Natural killer cells, lcsh:Medicine (General), H2S, Hydrogen sulphide, TNBC, Triple negative breast cancer, BC, Breast Cancer, T cell, Scr-siRNAs, Scrambled siRNAs, NO, Nitric oxide, Article, HLA-DR, Human Leukocytic antigen DR, PI3K/AKT signaling pathway, 03 medical and health sciences, Scr-miRNAs, Scrambled microRNAs, medicine, lcsh:Science (General), Protein kinase B, ComputingMethodologies_COMPUTERGRAPHICS, LDH, Lactate dehydrogenase Assay, Nitric oxide, 51Cr-release, Chromium release assay, miRNA, MicroRNA, Cystathionine beta synthase, 030104 developmental biology, NOS2, Inducible nitric oxide synthase-2, Cell culture, Cancer research, biology.protein, CSE, Cystathionine γ-lyase, NOS3, Endothelial nitric oxide synthase-3, NKG2D, Natural Killer Group 2D, KD, Knock down, IFN-γ, Interferon gamma, lcsh:Q1-390

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7ff83ab0e4869a509813e452dab4a54Test
https://doi.org/10.1016/j.jare.2020.07.006Test

3

Novel vectors and approaches for gene therapy in liver diseases

المؤلفون: Sheila Maestro, Gloria González-Aseguinolaza, Rafael Aldabe, Nicholas D. Weber, Nerea Zabaleta

المصدر: JHEP Reports

مصطلحات موضوعية: MPS type VII, MPSVII, S/MAR, scaffold matrix attachment regions, PB, piggyBac, gene addition, GalNAc, N-acetyl-D-galactosamine, UCD, urea cycle disorders, Genetic enhancement, medicine.medical_treatment, efficacy, MMA, methylmalonic acidemia, Review, Liver transplantation, medicine.disease_cause, MPS, mucopolysaccharidosis, immune response, IDS, iduronate 2-sulfatase, lncRNA, long non-coding RNA, gene silencing, GSD1a, glycogen storage disorder 1a, AAV, adeno-associated virus, ASOs, antisense oligonucleotides, Genome editing, AHP, acute hepatic porphyrias, HT, hereditary tyrosinemia, IMLD, inherited metabolic liver diseases, PFIC3, progressive familial cholestasis type 3, Immunology and Allergy, NHPs, non-human primates, CRISPR/Cas9, CRISPR associated protein 9, GO, glycolate oxidase, HemA/B, haemophilia A/B, Adeno-associated virus, HDR, homology-directed repair, Transcription activator-like effector nuclease, LNP, Lipid nanoparticles, siRNA, small-interfering RNA, MPR, metabolic pathway reprograming, LDH, lactate dehydrogenase, PH1, Primary hyperoxaluria type 1, gene editing, SRT, substrate reduction therapy, Gastroenterology, Ad, adenovirus, AAT, α1-antitrypsin, PA, propionic acidemia, dCas9, dead Cas9, ERT, enzyme replacement therapy, HDAd, helper-dependent adenovirus, CRISPR, clustered regularly interspaced short palindromic repeats, SB, Sleeping Beauty, LDLR, low-density lipoprotein receptor, MPS type I, MPSI, hepatocytes, OTC, ornithine transcarbamylase, APCs, antigen-presenting cells, DSBs, double-strand breaks, viral vectors, LV, lentivirus, AIP, acute intermittent porphyria, NASH, non-alcoholic steatohepatitis, GT, gene therapy, PKU, phenylketonuria, Computational biology, Gene delivery, Biology, FH, familial hypercholesterolemia, Viral vector, ITR, inverted terminal repetition, ZFN, zinc finger nucleases, GUSB, β-glucuronidase, Internal Medicine, medicine, OLT, orthotopic liver transplantation, Gene silencing, miRNAs, microRNAs, ASGPR, asialoglycoprotein receptor, ALAS1, aminolevulic synthase 1, TALEN, transcription activator-like effector nucleases, CBS, cystathionine β-synthase, PEG, polyethylene glycol, PEI, polyethyleneimine, TTR, transthyretin, Hepatology, IDUA, α-L-iduronidase, toxicity, ASGCT, American Society of Gene and Cell Therapy, CN, Crigel-Najjar, STK25, serine/threonine protein kinase 25, VLDLR, very-low-density lipoprotein receptor, WD, Wilson’s disease, FSP27, fat-specific protein 27, NHEJ, non-homologous end joining, Non-viral vectors, LTR, long terminal repeat, apoB/E, apolipoprotein B/E, RV, retrovirus, PCSK9, proprotein convertase subtilisin/kexin type 9

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69cc33bd8f559ae9ccb64e180a7a274aTest
http://europepmc.org/articles/PMC8203845Test

4

The double lives of phosphatases of regenerating liver: A structural view of their catalytic and noncatalytic activities

المؤلفون: Kalle Gehring, Guennadi Kozlov, Meng Yang, Rayan Fakih

المصدر: The Journal of Biological Chemistry

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e9eeec9de37a1500eb9859682f2f6d8Test
https://doi.org/10.1016/j.jbc.2021.101471Test

5

New possible silver lining for pancreatic cancer therapy: Hydrogen sulfide and its donors

المؤلفون: Jianan Sun, Bo Wu, Dahong Li, Hui-Ming Hua, Bao Ji, Shanshan Luo, Fanxing Xu, Yan Xiao, Peng Wang, Chao Zheng, Keguang Cheng, Xu Hu

المصدر: Acta Pharmaceutica Sinica. B
Acta Pharmaceutica Sinica B, Vol 11, Iss 5, Pp 1148-1157 (2021)

مصطلحات موضوعية: BCL-2, B-cell lymphoma-2, HDAC, histone deacetylase, Disease, Review, CBS, cystathionine-β-synthase, RASAL2, RAS protein activator like 2, OCT-4, octamer-binding transcription factor 4, SHH, sonic hedgehog, 0302 clinical medicine, ERU, erucin, General Pharmacology, Toxicology and Pharmaceutics, ITCs, isothiocyanates, Cell proliferation, DATS, diallyl trisulfide, NF-κB, nuclear factor kappa B, SMAD4, mothers against decapentaplegic homolog 4, SFN, sulforaphane, XIAP, X-linked inhibitor of apoptosis protein, 0303 health sciences, CDK1, cyclin-dependent kinase 1, Antitumor effect, Signaling pathway, CAT, cysteine aminotransferase, PI3K/AKT, phosphoinositide 3-kinase/v-AKT murine thymoma viral oncogene, TRAIL, The human tumor necrosis factor-related apoptosis-inducing ligand, Cell cycle, VEGF, vascular endothelial growth factor, 030220 oncology & carcinogenesis, JNK, c-Jun N-terminal kinase, iNOS, inducible nitric oxide synthase, HEATR1, human HEAT repeat-containing protein 1, HIF-1α, hypoxia inducible factor, PEITC, phenethyl isothiocyanate, Signal transduction, EMT, epithelial–mesenchymal transition, KEAP1‒NRF2‒ARE, the recombinant protein 1-nuclear factor erythroid-2 related factor 2-antioxidant response element, GLUTs, glucose transporters, BRCA2, breast cancer 2, 3-MST, 3-mercaptopyruvate sulfurtransferase, PDGFRα, platelet-derived growth factor receptor, AMPK, adenosine 5′-monophosphate-activated protein kinase, Hydrogen sulfide donor, RM1-950, DR4, death receptor, BITC, benzyl isothiocyanate, H2S, hydrogen sulfide, STAT-3, signal transducer and activator of transcription 3, 03 medical and health sciences, PARP, poly(ADP-ribose)-polymerase, Mediator, ROS, reactive oxygen species, ZEB1, zinc finger E box-binding protein-1, Pancreatic cancer, medicine, ERK1/2, extracellular signal-regulated kinase, Sulfur-containing compound, 030304 developmental biology, NO, nitric oxide, Cell growth, business.industry, KRAS, kirsten rat sarcoma viral oncogene, Cancer, medicine.disease, equipment and supplies, CHK2, checkpoint kinase 2, FOXM1, forkhead box protein M1, CSE, cystathionine-γ-lyase, RPL10, human ribosomal protein L10, CDC25B, cell division cycle 25B, Apoptosis, P16, multiple tumor suppressor 1, Cancer research, Therapeutics. Pharmacology, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::093ce424e4da05b4ed3727f0392f0661Test
https://pubmed.ncbi.nlm.nih.gov/34094825Test

6

Gene interactions observed with the HDL-c blood lipid, intakes of protein, sugar and biotin in relation to circulating homocysteine concentrations in a group of black South Africans

المؤلفون: Jacomina P. du Plessis, Lizelle Zandberg, Cornelie Nienaber-Rousseau, Alida Melse-Boonstra

المساهمون: 12257656 - Zandberg, Lizelle, 12632449 - Nienaber-Rousseau, Cornelie, 23446307 - Du Plessis, Jacomina P., 20338457 - Melse-Boonstra, Alida

المصدر: Molecular Genetics and Metabolism Reports, 22
Molecular Genetics and Metabolism Reports 22 (2020)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 22, Iss, Pp-(2020)

مصطلحات موضوعية: d, Cohen's d-value, Homocysteine, RFLP, restriction fragment length polymorphism, G, guanine, Blood lipids, LDL-c, low density lipoprotein cholesterol, WT, wild type, chemistry.chemical_compound, HDL-c, high-density lipoprotein cholesterol, 0302 clinical medicine, Endocrinology, High-density lipoprotein, PCR, polymerase chain reaction, HW, Hardy Weinberg, ID, identity, THUSA, Transition and Health during Urbanization in South Africa, Methionine synthase, lcsh:QH301-705.5, Nutrigenetics, ins, insertion, 0303 health sciences, lcsh:R5-920, Blood lipid-gene interactions, %TE, percentage of total energy, biology, Nutrient-gene interactions, Gly, glycine, A, adenine, 030305 genetics & heredity, PA, physical activity, MT, mutant type, Val, valine, Gene–diet interactions, PURE, Prospective Urban and Rural Epidemiology, QFFQ, quantitative food frequency questionnaire, SNP, single-nucleotide polymorphism, lcsh:Medicine (General), MTHFR, methylenetetrahydrofolate reductase, Research Paper, GGT, gamma glutamyl transferase, medicine.medical_specialty, Hyperhomocysteinemia, CBS, cystathionine β synthase, Gene-diet interactions, Thr, threonine, Biotin, ISAK, International Society for the Advancement of Kinanthropometry, Total homocysteine, Blood lipid–gene interactions, Asp, aspartic acid, MAF, minor allele frequency, SD, standard deviations, LD, pairwise linkage-disequilibrium, MTR, methionine synthase, Ala, alanine, 03 medical and health sciences, Internal medicine, Genetics, medicine, Sugar, Molecular Biology, Ile, isoleucine, VLAG, Global Nutrition, Wereldvoeding, %TCHO, percentage total carbohydrate intake, SE, standard error, business.industry, C, cytosine, CV, coefficient variation, HWE, Hardy–Weinberg equilibrium, Protein, ES, effect size, Precision nutrition, Hcy, homocysteine, medicine.disease, HHcy, hyperhomocysteinemia, MRC, Medical Research Council, Cystathionine beta synthase, GLM, generalized linear model, Minor allele frequency, bp, base pairs, chemistry, lcsh:Biology (General), CI, confidence intervals, SFA, saturated fatty acids, Nutrient–gene interactions, Methylenetetrahydrofolate reductase, biology.protein, HbA1c, glycated hemoglobin, business, T, thymine, 030217 neurology & neurosurgery

وصف الملف: application/octet-stream; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e094a32b1cc86c261c27a4bc390a2c80Test
https://doi.org/10.1016/j.ymgmr.2019.100556Test

7

Ethylmalonic encephalopathy: Clinical course and therapy response in an uncommon mild case with a severe ETHE1 mutation

المؤلفون: Valeria Tiranti, Melike Ersoy, Massimo Zeviani

المصدر: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100641-(2020)

مصطلحات موضوعية: Antibiotics, NAC, N-acetylcysteine, Case Report, medicine.disease_cause, Gastroenterology, SCAD, short-chain acyl-CoA dehydrogenase, cIV, complex IV, Endocrinology, Ethylmalonic encephalopathy, GSH, glutathione, lcsh:QH301-705.5, EE, ethylmalonic encephalopathy, lcsh:R5-920, cIII, complex III, Mutation, H2S, CAT, cysteine aminotransferase, Metabolic disorder, Clinical course, MTZ, metronidazole, ETHE1, CSE, cystathionine γ-lyase, lcsh:Medicine (General), SQR, sulfide quinone oxidoreductase, 3-MST, 3-mercaptopyruvate sulfurtransferase, medicine.medical_specialty, medicine.drug_class, UQ, quinone, Therapy response, H2S, hydrogen sulfide, SDO, sulfur dioxygenase, H2SO3, persulfide, Internal medicine, Detoxification, Genetics, medicine, CBS, cystathionine β-synthase, Molecular Biology, Mild course, SUOX, sulfite oxidase, business.industry, EMA, ethylmalonic acid, ETHE1 gene, H, 2, S, medicine.disease, TST, thiosulfate sulfur transferase, lcsh:Biology (General), business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f3a33500f852b1f701cc2d89844d6bcTest
https://doi.org/10.1016/j.ymgmr.2020.100641Test

8

Hypermethioninemia in Campania: Results from 10 years of newborn screening

المساهمون: Villani, G. R. D., Albano, L., Caterino, M., Crisci, D., Di Tommaso, S., Fecarotta, S., Fisco, M. G., Frisso, G., Gallo, G., Mazzaccara, C., Marchese, E., Nolano, A., Parenti, G., Pecce, R., Redi, A., Salvatore, F., Strisciuglio, P., Turturo, M. G., Vallone, F., Ruoppolo, M.

المصدر: Molecular Genetics and Metabolism Reports, Vol 21, Iss, Pp-(2019)
Molecular Genetics and Metabolism Reports

مصطلحات موضوعية: Newborn screening, Pediatrics, medicine.medical_specialty, Case Report, AdoCbl, 5′-deoxyadenosylcobalamin NBS, Homocystinuria, Hypermethioninemia, Cbl, cobalamin, CBS deficiency, MAT I/III deficiency, chemistry.chemical_compound, Endocrinology, DBS, dried blood spot samples, Genetics, medicine, CBS, cystathionine β-synthase, lcsh:QH301-705.5, Molecular Biology, lcsh:R5-920, Methionine, biology, business.industry, Incidence (epidemiology), medicine.disease, Cystathionine beta synthase, Dried blood spot, MAT I/III, methionine adenosyltransferase type I and III, lcsh:Biology (General), chemistry, Methionine Adenosyltransferase, biology.protein, lcsh:Medicine (General), business, NBS, Newborn screening

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58192da6cc52f81f3ea2cf3fc8e51f5eTest
https://doi.org/10.1016/j.ymgmr.2019.100520Test

9

Novel H

المؤلفون: Dan, Wu, Qingxun, Hu, Ying, Xiong, Deqiu, Zhu, Yicheng, Mao, Yi Zhun, Zhu

المصدر: Redox Biology

مصطلحات موضوعية: Cardiotonic Agents, Nitric Oxide Synthase Type III, LV Vol, Left ventricular volume, VEGF, Vascular endothelial growth factor, Heart failure, SPRC, S-propargyl-cysteine, Nitric Oxide, NO, Nitric oxide, Antioxidants, Mice, LVID, Left ventricular internal dimension diastole, PKG, Protein kinase G, VASP, Vasodilator-stimulated phosphoprotein, Animals, Humans, Hydrogen Sulfide, PAG, DL-propargylglycine, cGMP, Guanosine 5′-monophosphate, FS, Fractional shortening, Glutathione Peroxidase, L-NAME, L-NG-nitro arginine methyl ester, Cystathionine gamma-Lyase, Membrane Proteins, equipment and supplies, HO-1, Heme oxygenase 1, CBS, Cystathionine β-synthase, H2S, Hydrogen sulfide, EF, Ejection fraction, eNOS, Endothelial NO synthase, GPx, Glutathione peroxidase, CSE, Cystathionine γ-lyase, Heme Oxygenase-1, Research Paper, ROS, Reactive oxygen species

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::04d211c798e388e2cdbd1c827727eda9Test
https://pubmed.ncbi.nlm.nih.gov/29288927Test

10

Endogenous Hydrogen Sulfide Contributes to Tone Generation in Porcine Lower Esophageal Sphincter Via Na

المؤلفون: Xiaopeng, Bai, Eikichi, Ihara, Katsuya, Hirano, Yoshimasa, Tanaka, Kayoko, Nakano, Satomi, Kita, Takahiro, Iwamoto, Haruei, Ogino, Mayumi, Hirano, Yoshinao, Oda, Kazuhiko, Nakamura, Yoshihiro, Ogawa

المصدر: Cellular and Molecular Gastroenterology and Hepatology

مصطلحات موضوعية: PAG, propargylglycine, CCh, carbachol, KES, K+ extracellular solution, L-Asp, L-aspartic acid, AOA, amino-oxyacetic acid, KATP channels, ATP-sensitive K+ channels, CBS, cystathionine-β-synthase, TEA, tetraethylammonium, H2S, hydrogen sulfide, NCX, Na+/Ca2+ exchanger, TG, transgenic, otorhinolaryngologic diseases, Lower Esophageal Sphincter, TTX, tetrodotoxin, 3MST, 3-mercaptopyruvate sulfurtransferase, Original Research, [Ca2+]i, cytosolic Ca2+ concentration, L-NAME, Nω-nitro-L-arginine methyl ester, [Na+]o, extracellular Na+ concentration, Myogenic Tone Regulation, NES, normal extracellular solution, CSE, cystathionine-γ-lyase, Hydrogen Sulfate, ES, extracellular solution, LES, lower esophageal sphincter, L-Cys, L-cysteine, Na+/Ca2+ Exchanger

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::90e00b144e5b4405ac350842b3654d73Test
https://pubmed.ncbi.nlm.nih.gov/29379856Test

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