Gotowe bibliografie tematyczne / CTNS gene

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Gotowa bibliografia na temat „CTNS gene”

Autor: Grafiati
Data publikacji: 2 czerwca 2025
Data aktualizacji: 31 lipca 2025

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Artykuły w czasopismach na temat "CTNS gene"

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Cherqui, Stephanie. "Hematopoietic Stem Cell Gene Therapy for Cystinosis: From Bench-to-Bedside." Cells 10, no. 12 (2021): 3273. http://dx.doi.org/10.3390/cells10123273.

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Cystinosis is an autosomal recessive metabolic disease that belongs to the family of lysosomal storage disorders. The gene involved is the CTNS gene that encodes cystinosin, a seven-transmembrane domain lysosomal protein, which is a proton-driven cystine transporter. Cystinosis is characterized by the lysosomal accumulation of cystine, a dimer of cysteine, in all the cells of the body leading to multi-organ failure, including the failure of the kidney, eye, thyroid, muscle, and pancreas, and eventually causing premature death in early adulthood. The current treatment is the drug cysteamine, wh
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Eszlinger, Markus, Knut Krohn, Kerstin Berger, et al. "Gene Expression Analysis Reveals Evidence for Increased Expression of Cell Cycle-Associated Genes and Gq-Protein-Protein Kinase C Signaling in Cold Thyroid Nodules." Journal of Clinical Endocrinology & Metabolism 90, no. 2 (2005): 1163–70. http://dx.doi.org/10.1210/jc.2004-1242.

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In contrast to the molecular etiology of autonomously functioning thyroid nodules, the molecular cause of cold thyroid nodules (CTNs), their benign, functional inactive counterparts, are so far largely unknown. Because of the partially dedifferentiated phenotype of CTNs, alterations in signaling cascades that favor proliferation, but not differentiation, are likely candidates for tumor induction and progression. The importance of RAS mutations for the development of benign nodules with follicular histology is still in question. However, differentially expressed genes in the context of their si
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Medaer, Louise, Dries David, Maxime Smits, Elena Levtchenko, Maurilio Sampaolesi, and Rik Gijsbers. "Residual Cystine Transport Activity for Specific Infantile and Juvenile CTNS Mutations in a PTEC-Based Addback Model." Cells 13, no. 7 (2024): 646. http://dx.doi.org/10.3390/cells13070646.

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Cystinosis is a rare, autosomal recessive, lysosomal storage disease caused by mutations in the gene CTNS, leading to cystine accumulation in the lysosomes. While cysteamine lowers the cystine levels, it does not cure the disease, suggesting that CTNS exerts additional functions besides cystine transport. This study investigated the impact of infantile and juvenile CTNS mutations with discrepant genotype/phenotype correlations on CTNS expression, and subcellular localisation and function in clinically relevant cystinosis cell models to better understand the link between genotype and CTNS funct
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Demirhan, Osman. "Mutational and Geographical Distribution of the Ctns Gene in Turkish Patients with Cystinosis." Journal of Surgical Case Reports and Images 7, no. 2 (2024): 01–07. https://doi.org/10.31579/2690-1897/181.

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Cystinosis is a rare autosomal recessive storage disease that occurs as a result of deficiency of the cystinosine carrier protein caused by mutations in the CTNS gene, which encodes cystinosine, a cysteine carrier in lysosomal membranes. Our study aimed to determine cystinosis gene mutations and their geographical distribution in Turkish pediatric patients with cystinosis. Two brothers and one girl with infantile nephropathic and ocular cystinosis were included in the study. Molecular analyzes included initial multiplex polymerase chain reaction (PCR) to identify a 57 kb deletion in CTNS and a
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Gonzalez, Alex, Wai W. Cheung, Elliot A. Perens, Eduardo A. Oliveira, Arieh Gertler, and Robert H. Mak. "A Leptin Receptor Antagonist Attenuates Adipose Tissue Browning and Muscle Wasting in Infantile Nephropathic Cystinosis-Associated Cachexia." Cells 10, no. 8 (2021): 1954. http://dx.doi.org/10.3390/cells10081954.

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Mice lacking the functional cystinosin gene (Ctns−/−), a model of infantile nephropathic cystinosis (INC), exhibit the cachexia phenotype with adipose tissue browning and muscle wasting. Elevated leptin signaling is an important cause of chronic kidney disease-associated cachexia. The pegylated leptin receptor antagonist (PLA) binds to but does not activate the leptin receptor. We tested the efficacy of this PLA in Ctns−/− mice. We treated 12-month-old Ctns−/− mice and control mice with PLA (7 mg/kg/day, IP) or saline as a vehicle for 28 days. PLA normalized food intake and weight gain, increa
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Bellomo, Francesco, Serena Corallini, Anna Pastore, et al. "Modulation of CTNS gene expression by intracellular thiols." Free Radical Biology and Medicine 48, no. 7 (2010): 865–72. http://dx.doi.org/10.1016/j.freeradbiomed.2010.01.011.

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Corallini, Serena, Anna Taranta, Francesco Bellomo, Alessia Palma, Anna Pastore, and Francesco Emma. "Transcriptional and Posttranscriptional Regulation of the CTNS Gene." Pediatric Research 70, no. 2 (2011): 130–35. http://dx.doi.org/10.1203/pdr.0b013e3182200187.

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Mason, Silvia, Guglielmina Pepe, Roberto Dall'Amico, et al. "Mutational spectrum of the CTNS gene in Italy." European Journal of Human Genetics 11, no. 7 (2003): 503–8. http://dx.doi.org/10.1038/sj.ejhg.5200993.

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Taranta, Anna, Martijn J. Wilmer, Lambert P. van den Heuvel, et al. "Analysis of CTNS gene transcripts in nephropathic cystinosis." Pediatric Nephrology 25, no. 7 (2010): 1263–67. http://dx.doi.org/10.1007/s00467-010-1502-5.

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Li, Xiao-Qiao, Di Wu, Xue-Jun Liang, et al. "The diagnosis of cystinosis in patients reveals new CTNS gene mutations in the Chinese population." Journal of Pediatric Endocrinology and Metabolism 32, no. 4 (2019): 375–82. http://dx.doi.org/10.1515/jpem-2018-0263.

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Abstract Background Cystinosis is a rare autosomal-recessive disorder caused by a defective transport of cystine across the lysosomal membrane. Previous studies have mapped cystinosis to the CTNS gene which is located on chromosome 17p13, and various CTNS mutations have been identified to correlate them with this disease. Methods We analyzed six patients from five unrelated families who were diagnosed with cystinosis in our hospital. We described the diagnostic procedures for all the patients and proposed alternative therapies for cystinosis patients instead of using cysteamine, an orphan drug
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Rozprawy doktorskie na temat "CTNS gene"

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"Aspects of lysosome biogenesis and gene expression with emphasis on the lysosomal cystine transporter gene, CTNS." Tulane University, 2002.

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The CTNS gene encodes the lysosomal membrane transport protein cystinosin. Defects in CTNS result in the disorder cystinosis, characterized by the renal Fanconi syndrome, progressive renal failure, corneal crystals and retinopathy. A nonsense mutation (G753A) found in the CTNS gene encodes a premature termination codon (PTC; W138X), and results in severe nephropathic cystinosis. Aminoglycoside antibiotics induce faulty proofreading and allow translation of full-length protein from nonsense message. Treatment of fibroblasts containing the PTC mutation with the aminoglycoside antibiotic, gentami
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Ku, Min-Tzu, and 辜敏慈. "Identification of metastatic CTCs by using Twist promoter-driven reporter gene and peptide bait." Thesis, 2019. http://ndltd.ncl.edu.tw/handle/w7nsyc.

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Mukherjee, Sumanta. "Multi-scale Modelling of HLA Diversity and Its Effect on Cytotoxic Immune Responses in Influenza H1N1 Infection." Thesis, 2015. http://etd.iisc.ac.in/handle/2005/3665.

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Cytotoxic T-lymphocytes (CTLs) are important components of the adaptive immune system and function by scanning the intracellular environment so as to detect and de-stroy infected cells. CTL responses play a major role in controlling virus-infected cells such as in HIV or influenza and cells infected with intracellular bacteria such as in tuberculosis. To do so they require the antigens to be presented to them, which is fulfilled by the major histocompatibility complex (MHC), commonly known as human leukocyte antigen or HLA molecules in humans. Recognition of antigenic peptides to Class-1 HLA m
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Mukherjee, Sumanta. "Multi-scale Modelling of HLA Diversity and Its Effect on Cytotoxic Immune Responses in Influenza H1N1 Infection." Thesis, 2015. http://etd.iisc.ernet.in/2005/3665.

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Cytotoxic T-lymphocytes (CTLs) are important components of the adaptive immune system and function by scanning the intracellular environment so as to detect and de-stroy infected cells. CTL responses play a major role in controlling virus-infected cells such as in HIV or influenza and cells infected with intracellular bacteria such as in tuberculosis. To do so they require the antigens to be presented to them, which is fulfilled by the major histocompatibility complex (MHC), commonly known as human leukocyte antigen or HLA molecules in humans. Recognition of antigenic peptides to Class-1 HLA m
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Książki na temat "CTNS gene"

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Levtchenko, Elena N., and Mirian C. Janssen. Cystinosis. Edited by Neil Turner. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0339_update_001.

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Cystinosis is a rare autosomal recessive disease caused by mutations in the lysosomal cystine transporter cystinosin encoded by the CTNS gene (17p.13.2). Cystinosis is characterized by lysosomal cystine accumulation throughout the body with renal Fanconi syndrome being the most common presenting symptom of a multisystem disorder. It must be distinguished from cystinuria in which formation of cystine stones is the core problem. When left untreated, kidney dysfunction gradually progresses towards end-stage renal failure during the first 10 years of life. The advent of renal replacement therapy a
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GREEN, Megan. Myth and ReАlity in Present ErА: Myths Originаte from Generаtionаl Thoughts and Beliefs, While Fаcts аre Given аs Evidence. Independently Published, 2022.

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Części książek na temat "CTNS gene"

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Soliman, Neveen A., Mohamed A. Elmonem, Lambertus van den Heuvel, et al. "Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis." In JIMD Reports. Springer Berlin Heidelberg, 2014. http://dx.doi.org/10.1007/8904_2013_288.

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Castaneda, Carlos A. "Molecular and Cellular Analyses of Breast Cancers in Real Life." In Improving Oncology Worldwide. Springer International Publishing, 2022. http://dx.doi.org/10.1007/978-3-030-96053-7_10.

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AbstractBreast cancer is the most common women’s malignancy. Incorporation of biomarkers of prognosis and prediction of response are needed to improve treatment management. Lectures for immunohistochemistry of estrogen, progesterone, and HER2 receptors as well as Ki67 staining in cancer cells have been incorporated, and their positive cutoffs have periodically been reviewed. Gene expression platforms in tumor lesions as well as germline and somatic mutations have also been included in the practice for treatment selection. Liquid biopsy evaluating circulating tumor cells (CTCs) and circulating
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Trauner, Doris A. "Neurological and Cognitive Consequences of Nephropathic Cystinosis." In Cognitive and Behavioral Abnormalities of Pediatric Diseases. Oxford University Press, 2010. http://dx.doi.org/10.1093/oso/9780195342680.003.0039.

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Nephropathic cystinosis is a rare autosomal recessive disorder caused by a deletion mapped to chromosome 17p13. The gene codes for a protein, cystinosin (CTNS), a lysosomal membrane transporter protein. When the CTNS gene is inactivated, the amino acid cystine cannot cross the lysosomal membrane and accumulates in lysosomes. Thus, cystinosis is a lysosomal storage disease. The accumulated cystine forms crystals that can cause damage to multiple organs. Cystinosis is thought to occur with an incidence of 1 in 100,000 live births, although accurate numbers are difficult to obtain because the dis
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Bahram, Seiamak. "MHC Class I Polypeptide-Related Sequence A and B (MICA and MICB) Genes." In Genetic Susceptibility to Infectious Diseases. Oxford University PressNew York, NY, 2008. http://dx.doi.org/10.1093/oso/9780195174908.003.0006.

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Abstract The prime relevance of the so-called classical MHC class I genes in fighting infectious diseases is established beyond doubt (Segal and Hill 2003). These highly polymorphic, ubiquitously expressed, b2-microglobulin linked molecules (HLA-A,-B and -C in man, H2-K1,-D1, and -L in mouse) present short, endogenously produced peptide antigens (derived from degradation of intracellular proteins, including viruses and certainbacteria) to the ab T-cell receptor (TCR) of CD8+ cytotoxic T lymphocytes (CTLs) (Bjorkman and Parham 1990). These CTLs consequently eliminate the infected cells and, in
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Okada, M., and T. Kishimoto. "The potential application and limitation of cytokine/ growth factor manipulation in cancer therapy." In Cell Proliferation in Cancer. Oxford University PressOxford, 1995. http://dx.doi.org/10.1093/oso/9780198547914.003.0008.

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Abstract Many cytokines/growth factors and their receptors have been identified and characterized at the molecular level. Studies with recombinant cytokines and their monoclonal antibodies have revealed that most cytokines are pleiotropic and have overlapping activities (redundancy). The production of cytokines by recombinant DNA technology has facilitated assessment of their in vivo therapeutic potential, and led to renewed hope for an immunotherapeutic solution to cancer. Some cytokines either singly or in combination, have already shown promise in animal and clinical trials. Systemic cytoki
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Streszczenia konferencji na temat "CTNS gene"

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Carvalho, GC, J. Monteiro, BB Perez, DR Ramadan, and S. Tufik. "ANÁLISE DOS LIMITES DE DETECÇÃO DOS GENES RDRP, S E N EM AMOSTRAS POSITIVAS PARA SARS-COV-2 E OUTROS VÍRUS RESPIRATÓRIOS." In Resumos do 54º Congresso Brasileiro de Patologia Clínica/Medicina Laboratorial. Zeppelini Editorial e Comunicação, 2022. http://dx.doi.org/10.5327/1516-3180.140s1.6663.

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Objetivo: O Sars-CoV-2, o vírus influenza (Flu) e o vírus sincicial respiratório (VSR) são os principais patógenos que acometem o sistema respiratório humano. O objetivo deste trabalho é analisar o limite Ct (cycle threshold) dos genes RdRP, S e N em amostras duplo positivas para vírus respiratórios e identificar a variação média por faixas etárias. Método: Entre janeiro e março de 2022, 28.932 amostras de swab nasofaríngeo foram obtidas para o diagnóstico molecular de infecções respiratórias virais. Foi aplicado um painel multiplex-PCR em tempo real para pesquisa de genes específicos para det
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Alsalloum, A., S. Alrhmoun, O. Yu Perik-Zavodskaia, et al. "NY-ESO-1 TCR T-CELLS SHOW A POTENT ANTI-TUMOR ACTIVITY IN THE SK-MEL-37 MELANOMA MURINE XENOGRAFT MODEL." In XI МЕЖДУНАРОДНАЯ КОНФЕРЕНЦИЯ МОЛОДЫХ УЧЕНЫХ: БИОИНФОРМАТИКОВ, БИОТЕХНОЛОГОВ, БИОФИЗИКОВ, ВИРУСОЛОГОВ, МОЛЕКУЛЯРНЫХ БИОЛОГОВ И СПЕЦИАЛИСТОВ ФУНДАМЕНТАЛЬНОЙ МЕДИЦИНЫ. IPC NSU, 2024. https://doi.org/10.25205/978-5-4437-1691-6-296.

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TCR-engineered T cells targeting intracellular antigens hold promise for cancer therapy. Yet, the mechanisms driving their effectiveness remain elusive. This study employed a cutting-edge approach to explore the adaptation and functional state of T cells with a TCR specific to NY-ESO-1 in vivo. We revealed a unique subset of CD8+ effector T cells, exhibiting a gene expression profile characteristic of both CTLs and NK cells.
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Samuseva, P. D., and A. A. Mekhova. "EXPRESSION OF COPPER METABOLISM GENES IN CAENORHABDITIS ELEGANS DURING THE LIFE CYCLE." In X Международная конференция молодых ученых: биоинформатиков, биотехнологов, биофизиков, вирусологов и молекулярных биологов — 2023. Novosibirsk State University, 2023. http://dx.doi.org/10.25205/978-5-4437-1526-1-367.

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In the nematodes C. elegans with a genetic defect in copper metabolism, the expression of genes of the copper transport system (CTS) during ontogeny was studied. In worms, the H828Q substitution in the CUA-1 protein (ortholog of the human Wilson ATPase) was shown to cause a significant delay in development and death at the early stages of ontogeny upon treatment with Ag1+. The significance of the sequence of turning on the activity of CTS genes in the development of nematodes is discussed.
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Peonorio, PEM, FDM Brandão, RM Ruiz, et al. "AVALIAÇÃO DE DIFERENTES PLATAFORMAS DE PCR EM TEMPO REAL PARA SARS-COV 2: COMPARAÇÃO DOS VALORES DE CT UTILIZANDO CULTURA CELULAR." In Resumos do 54º Congresso Brasileiro de Patologia Clínica/Medicina Laboratorial. Zeppelini Editorial e Comunicação, 2022. http://dx.doi.org/10.5327/1516-3180.140s1.6012.

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Objetivo: Comparar os valores de cycle threshold (Ct) de sete diferentes plataformas de PCR em tempo real para detecção de Sars-CoV-2, disponíveis em um laboratório particular da cidade de São Paulo, utilizando amostras de cultura celular em diversas concentrações. Método: Uma amostra de cultura celular de Sars-CoV-2 da variante Gamma (P1) na concentração de 1,44 × 10e5 TCID 50/ml foi diluída em série (1/10, 1/100, 1/1.000, 1/10.000 e 1/100.000) e cada ponto testado em triplicata. As plataformas e os kits qualitativos de PCR em tempo real avaliados foram: Abbott RealTime SARS-CoV-2 Assay (Abot
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Zhang, Yuanying, Nongyue He, Huishi Guo, et al. "Genechip-detecting mutations in exon 8 in cTnI gene associated with FHCM." In Optics East, edited by Warren Y. Lai, Stanley Pau, and O. Daniel Lopez. SPIE, 2005. http://dx.doi.org/10.1117/12.573505.

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Paturi, Anand, Manoj Cherukuri, John Donahue, and Srinivas Mukkamala. "Mobile malware visual analytics and similarities of Attack Toolkits (Malware gene analysis)." In 2013 International Conference on Collaboration Technologies and Systems (CTS). IEEE, 2013. http://dx.doi.org/10.1109/cts.2013.6567221.

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Owen, Sarah, Ting-Wen Lo, Shamileh Fouladdel, et al. "Abstract B36: Identifying single-cell gene expression and EGFR mutation profile heterogeneity in NSCLC patients’ CTCs." In Abstracts: AACR Special Conference on Advances in Liquid Biopsies; January 13-16, 2020; Miami, FL. American Association for Cancer Research, 2020. http://dx.doi.org/10.1158/1557-3265.liqbiop20-b36.

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Englert, David F., Mariya Kolesnikova, Nishat Zaman, Arianna Hustler, Gabrielle Wishart, and Daniel J. O'Shannessy. "Abstract 1375: Multiplex gene expression using the HyCEAD assay in CTCs isolated with the Parsortix™ system." In Proceedings: AACR Annual Meeting 2019; March 29-April 3, 2019; Atlanta, GA. American Association for Cancer Research, 2019. http://dx.doi.org/10.1158/1538-7445.sabcs18-1375.

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Englert, David F., Mariya Kolesnikova, Nishat Zaman, Arianna Hustler, Gabrielle Wishart, and Daniel J. O'Shannessy. "Abstract 1375: Multiplex gene expression using the HyCEAD assay in CTCs isolated with the Parsortix™ system." In Proceedings: AACR Annual Meeting 2019; March 29-April 3, 2019; Atlanta, GA. American Association for Cancer Research, 2019. http://dx.doi.org/10.1158/1538-7445.am2019-1375.

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Wang, Yixin. "Abstract 1688: Mutation and gene expression analysis of circulating tumor cells (CTCs) enriched and retrieved by a sensitive microfluidic device." In Proceedings: AACR 107th Annual Meeting 2016; April 16-20, 2016; New Orleans, LA. American Association for Cancer Research, 2016. http://dx.doi.org/10.1158/1538-7445.am2016-1688.

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