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Artykuły w czasopismach na temat „CTNS gene”

Autor: Grafiati

Data publikacji: 2 czerwca 2025

Data aktualizacji: 31 lipca 2025

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1

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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4

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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6

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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8

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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9

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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10

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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11

Franco, Augusto A. "The Bacteroides fragilis Pathogenicity Island Is Contained in a Putative Novel Conjugative Transposon." Journal of Bacteriology 186, no. 18 (2004): 6077–92. http://dx.doi.org/10.1128/jb.186.18.6077-6092.2004.

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ABSTRACT The genetic element flanking the Bacteroides fragilis pathogenicity island (BfPAI) in enterotoxigenic B. fragilis (ETBF) strain 86-5443-2-2 and a related genetic element in NCTC 9343 were characterized. The results suggested that these genetic elements are members of a new family of conjugative transposons (CTns) not described previously. These putative CTns, designated CTn86 and CTn9343 for ETBF 86-5443-2-2 and NCTC 9343, respectively, differ from previously described Bacteroides species CTns in a number of ways. These new transposons do not carry tetQ, and the excision from the chro

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12

Cherqui, Stéphanie, Caroline Sevin, Ghislaine Hamard, et al. "Intralysosomal Cystine Accumulation in Mice Lacking Cystinosin, the Protein Defective in Cystinosis." Molecular and Cellular Biology 22, no. 21 (2002): 7622–32. http://dx.doi.org/10.1128/mcb.22.21.7622-7632.2002.

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ABSTRACT Cystinosis is an autosomal recessive disorder characterized by an accumulation of intralysosomal cystine. The causative gene, CTNS, encodes cystinosin, a seven-transmembrane-domain protein, which we recently showed to be a lysosomal cystine transporter. The most severe and frequent form of cystinosis, the infantile form, appears around 6 to 12 months, with a proximal tubulopathy (de Toni-Debré-Fanconi syndrome) and ocular damage. End-stage renal failure is reached by 10 years of age. Accumulation of cystine in all tissues eventually leads to multisystemic disease. Treatment with cyst

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13

De Rasmo, Domenico, Anna Signorile, Ester De Leo, et al. "Mitochondrial Dynamics of Proximal Tubular Epithelial Cells in Nephropathic Cystinosis." International Journal of Molecular Sciences 21, no. 1 (2019): 192. http://dx.doi.org/10.3390/ijms21010192.

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Nephropathic cystinosis is a rare lysosomal storage disorder caused by mutations in CTNS gene leading to Fanconi syndrome. Independent studies reported defective clearance of damaged mitochondria and mitochondrial fragmentation in cystinosis. Proteins involved in the mitochondrial dynamics and the mitochondrial ultrastructure were analyzed in CTNS−/− cells treated with cysteamine, the only drug currently used in the therapy for cystinosis but ineffective to treat Fanconi syndrome. CTNS−/− cells showed an overexpression of parkin associated with deregulation of ubiquitination of mitofusin 2 and

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14

Bondue, Tjessa, Anas Kouraich, Sante Princiero Berlingerio, et al. "The Pitfall of White Blood Cell Cystine Measurement to Diagnose Juvenile Cystinosis." International Journal of Molecular Sciences 24, no. 2 (2023): 1253. http://dx.doi.org/10.3390/ijms24021253.

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Cystinosis is an autosomal recessive lysosomal storage disease, caused by mutations in the CTNS gene, resulting in multi-organ cystine accumulation. Three forms of cystinosis are distinguished: infantile and juvenile nephropathic cystinosis affecting kidneys and other organs such as the eyes, endocrine system, muscles, and brain, and adult ocular cystinosis affecting only the eyes. Currently, elevated white blood cell (WBC) cystine content is the gold standard for the diagnosis of cystinosis. We present a patient with proteinuria at adolescent age and corneal cystine crystals, but only slightl

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15

Mugdha, Rairikar, Hohenfellner Katharina, and Elenberg Ewa. "Cystinosis - Pathophysiology." Archives of Clinical Nephrology 9, no. 1 (2023): 008–12. http://dx.doi.org/10.17352/acn.000064.

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Cystinosis is a rare autosomal recessive lysosomal storage disorder affecting 1 in 100,000 – 200,000 live births. It is caused by a mutation in the Cystinosin (CTNS) gene, a cystine-proton cotransporter, the absence of which results in intra-lysosomal accumulation of cystine. Kidneys are affected first, presenting as Fanconi syndrome in infancy, followed by widespread involvement of the eyes, endocrine and neuromuscular system later in life. Cystinosis since being first described in 1903 to the discovery of CTNS gene defect a century later in 1998, has proven to be a complex disease. Clinical

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16

Peed, Lindsay, Anita C. Parker, and C. Jeffrey Smith. "Genetic and Functional Analyses of the mob Operon on Conjugative Transposon CTn341 from Bacteroides spp." Journal of Bacteriology 192, no. 18 (2010): 4643–50. http://dx.doi.org/10.1128/jb.00317-10.

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ABSTRACT Bacteroides are Gram-negative anaerobes indigenous to the intestinal tract of humans, and they are important opportunistic pathogens. Mobile genetic elements, such as conjugative transposons (CTns), have contributed to an increase in antibiotic resistance in these organisms. CTns are self-transmissible elements that belong to the superfamily of integrative and conjugative elements (ICEs). CTn341 is 52 kb; it encodes tetracycline resistance and its transfer is induced by tetracycline. The mobilization region of CTn341 was shown to be comprised of a three-gene operon, mobABC, and the tr

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17

Dokousli, Vaia, Liana Fidani, Despoina Tramma, Athanasios Evangeliou, and Maria Ziaka. "Infantile Nephropathic Cystinosis - Homozygous c.516dupC Mutation of the CTNS Gene." Medical Science and Discovery 9, no. 8 (2022): 481–84. http://dx.doi.org/10.36472/msd.v9i8.795.

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Objective: Cystinosis is a rare, autosomal recessive, lysosomal storage disorder characterized by cystine accumulation throughout the body, due to mutations in the gene encoding cystinosin, named CTNS. Infantile nephropathic cystinosis (INC), the most severe form of the disease and the most common cause of renal Fanconi syndrome (FS), starts with proximal tubulopathy and causes renal failure and various extra-renal manifestations over the time. Case Presentation: The authors report a 15-month-old boy of Greek origin who presented with failure to thrive over the last 7 months and was noted to h

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18

Veys, Koenraad, Sante Princiero Berlingerio, Dries David, et al. "Urine-Derived Kidney Progenitor Cells in Cystinosis." Cells 11, no. 7 (2022): 1245. http://dx.doi.org/10.3390/cells11071245.

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Nephropathic cystinosis is an inherited lysosomal storage disorder caused by pathogenic variants in the cystinosin (CTNS) gene and is characterized by the excessive shedding of proximal tubular epithelial cells (PTECs) and podocytes into urine, development of the renal Fanconi syndrome and end-stage kidney disease (ESKD). We hypothesized that in compensation for epithelial cell losses, cystinosis kidneys undertake a regenerative effort, and searched for the presence of kidney progenitor cells (KPCs) in the urine of cystinosis patients. Urine was cultured in a specific progenitor medium to isol

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Deshpande, Anup Arunrao, Rajan Ravichandran, and Anand Kumar Bachhawat. "Molecular Analysis of the CTNS Gene in Indians with Nephropathic Cystinosis." Indian Journal of Pediatrics 84, no. 3 (2016): 240–41. http://dx.doi.org/10.1007/s12098-016-2257-1.

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Berlingerio, Sante Princiero, Junling He, Lies De Groef, et al. "Renal and Extra Renal Manifestations in Adult Zebrafish Model of Cystinosis." International Journal of Molecular Sciences 22, no. 17 (2021): 9398. http://dx.doi.org/10.3390/ijms22179398.

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Cystinosis is a rare, incurable, autosomal recessive disease caused by mutations in the CTNS gene. This gene encodes the lysosomal cystine transporter cystinosin, leading to lysosomal cystine accumulation in all cells of the body, with kidneys being the first affected organs. The current treatment with cysteamine decreases cystine accumulation, but does not reverse the proximal tubular dysfunction, glomerular injury or loss of renal function. In our previous study, we have developed a zebrafish model of cystinosis through a nonsense mutation in the CTNS gene and have shown that zebrafish larva

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21

Jaradat, Saied, Bothina Al-Rababah, Issa Hazza, Kamal Akl, Edward Saca, and Doaa Al-Younis. "Molecular analysis of the CTNS gene in Jordanian families with nephropathic cystinosis." Nefrología 35, no. 6 (2015): 547–53. http://dx.doi.org/10.1016/j.nefro.2015.09.009.

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Jaradat, Saied, Bothina Al-Rababah, Issa Hazza, Kamal Akl, Edward Saca, and Doaa Al-Younis. "Molecular analysis of the CTNS gene in Jordanian families with nephropathic cystinosis." Nefrología (English Edition) 35, no. 6 (2015): 547–53. http://dx.doi.org/10.1016/j.nefroe.2015.11.010.

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Taranta, Anna, Mohamed A. Elmonem, Francesco Bellomo, et al. "Benefits and Toxicity of Disulfiram in Preclinical Models of Nephropathic Cystinosis." Cells 10, no. 12 (2021): 3294. http://dx.doi.org/10.3390/cells10123294.

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Nephropathic cystinosis is a rare disease caused by mutations of the CTNS gene that encodes for cystinosin, a lysosomal cystine/H+ symporter. The disease is characterized by early-onset chronic kidney failure and progressive development of extra-renal complications related to cystine accumulation in all tissues. At the cellular level, several alterations have been demonstrated, including enhanced apoptosis, altered autophagy, defective intracellular trafficking, and cell oxidation, among others. Current therapy with cysteamine only partially reverts some of these changes, highlighting the need

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Gaide Chevronnay, H. P., V. Janssens, P. Van Der Smissen, et al. "Hematopoietic Stem Cells Transplantation Can Normalize Thyroid Function in a Cystinosis Mouse Model." Endocrinology 157, no. 4 (2016): 1363–71. http://dx.doi.org/10.1210/en.2015-1762.

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Abstract Hypothyroidism is the most frequent and earliest endocrine complication in cystinosis, a multisystemic lysosomal storage disease caused by defective transmembrane cystine transporter, cystinosin (CTNS gene). We recently demonstrated in Ctns−/− mice that altered thyroglobulin biosynthesis associated with endoplasmic reticulum stress, combined with defective lysosomal processing, caused hypothyroidism. In Ctns−/− kidney, hematopoietic stem cell (HSC) transplantation provides long-term functional and structural protection. Tissue repair involves transfer of cystinosin-bearing lysosomes f

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Correia-Costa, Gabriela Roldão, Ana Mondadori dos Santos, Nicole de Leeuw, et al. "Dual Molecular Diagnoses of Recessive Disorders in a Child from Consanguineous Parents: Case Report and Literature Review." Genes 13, no. 12 (2022): 2377. http://dx.doi.org/10.3390/genes13122377.

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The widespread use of whole exome sequencing (WES) resulted in the discovery of multilocus pathogenic variations (MPV), defined as two or more distinct or overlapping Mendelian disorders occurring in a patient, leading to a blended phenotype. In this study, we report on a child with autosomal recessive primary microcephaly-5 (MCPH5) and nephropathic cystinosis. The proband is the first child of consanguineous parents, presenting a complex phenotype including neurodevelopmental delay, microcephaly, growth restriction, significant delay of bone maturation, lissencephaly, and abnormality of neuro

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Dev, Vishnu, Girish Bhatt, Sriram Krishnamurthy, et al. "WCN25-2709 MUTATIONAL SPECTRUM OF CTNS GENE IN INDIAN CHILDREN WITH NEPHROPATHIC CYSTINOSIS." Kidney International Reports 10, no. 2 (2025): S358—S359. https://doi.org/10.1016/j.ekir.2024.11.668.

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Parker, Anita C., and C. Jeffrey Smith. "A Multicomponent System Is Required for Tetracycline-Induced Excision of Tn4555." Journal of Bacteriology 186, no. 2 (2004): 438–44. http://dx.doi.org/10.1128/jb.186.2.438-444.2004.

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ABSTRACT Bacteroides spp. are the predominant organisms in the intestinal tract, and they also are important opportunistic pathogens. Antibiotic therapy of Bacteroides infections often is complicated by the prevalence of drug-resistant organisms which acquire resistance genes from a variety of mobile genetic elements including conjugative transposons (CTns) and mobilizable transposons (MTns). Tn4555 is an MTn that encodes β-lactam resistance, and it is efficiently mobilized by the Bacteroides CTns via a tetracycline (TET)-inducible mechanism. In this study a model system with CTn341 and a Tn45

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Chkioua, Latifa, Souhir Khedhiri, Oussama Grissa, et al. "Genetic basis of cystinosis in Tunisian patients: Identification of novel mutation in CTNS gene." Meta Gene 5 (September 2015): 144–49. http://dx.doi.org/10.1016/j.mgene.2015.07.003.

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Ghania, Djekrif, Bendjemana Katia, and Satta Dalila. "CYP1A1 GENE POLYMORPHISM AND NASOPHARYNGEAL CARCINOMA IN ALGERIAN POPULATION." Current Trends in Natural Sciences 9, no. 18 (2020): 218–25. http://dx.doi.org/10.47068/ctns.2020.v9i18.030.

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Naito, Mariko, Keiko Sato, Mikio Shoji, et al. "Characterization of the Porphyromonas gingivalis conjugative transposon CTnPg1: determination of the integration site and the genes essential for conjugal transfer." Microbiology 157, no. 7 (2011): 2022–32. http://dx.doi.org/10.1099/mic.0.047803-0.

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In our previous study, extensive genomic rearrangements were found in two strains of the Gram-negative anaerobic bacterium Porphyromonas (Por.) gingivalis, and most of these rearrangements were associated with mobile genetic elements such as insertion sequences and conjugative transposons (CTns). CTnPg1, identified in Por. gingivalis strain ATCC 33277, was the first complete CTn reported for the genus Porphyromonas. In the present study, we found that CTnPg1 can be transferred from strain ATCC 33277 to another Por. gingivalis strain, W83, at a frequency of 10−7 to 10−6. The excision of CTnPg1

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Anikster, Yair, Cynthia Lucero, Jeffrey W. Touchman, et al. "Breakpoint Identification, Detection and Frequency of the 65-kb Deletion in the Cystinosis Gene, CTNS." Pediatric Research 45, no. 4, Part 2 of 2 (1999): 136A. http://dx.doi.org/10.1203/00006450-199904020-00807.

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Kiehntopf, Michael, Jörg Schickel, Bärbel von der Gönne, et al. "Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis." Human Mutation 20, no. 3 (2002): 237. http://dx.doi.org/10.1002/humu.9063.

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Galarreta, Carolina I., Michael S. Forbes, Barbara A. Thornhill, et al. "The swan-neck lesion: proximal tubular adaptation to oxidative stress in nephropathic cystinosis." American Journal of Physiology-Renal Physiology 308, no. 10 (2015): F1155—F1166. http://dx.doi.org/10.1152/ajprenal.00591.2014.

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Cystinosis is an inherited disorder resulting from a mutation in the CTNS gene, causing progressive proximal tubular cell flattening, the so-called swan-neck lesion (SNL), and eventual renal failure. To determine the role of oxidative stress in cystinosis, histologic sections of kidneys from C57BL/6 Ctns−/− and wild-type mice were examined by immunohistochemistry and morphometry from 1 wk to 20 mo of age. Additional mice were treated from 1 to 6 mo with vehicle or mitoquinone (MitoQ), an antioxidant targeted to mitochondria. The leading edge of the SNL lost mitochondria and superoxide producti

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Machuca-Gayet, Irma, Thomas Quinaux, Aurélia Bertholet-Thomas, et al. "Bone Disease in Nephropathic Cystinosis: Beyond Renal Osteodystrophy." International Journal of Molecular Sciences 21, no. 9 (2020): 3109. http://dx.doi.org/10.3390/ijms21093109.

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Patients with chronic kidney disease (CKD) display significant mineral and bone disorders (CKD-MBD) that induce significant cardiovascular, growth and bone comorbidities. Nephropathic cystinosis is an inherited metabolic disorder caused by the lysosomal accumulation of cystine due to mutations in the CTNS gene encoding cystinosin, and leads to end-stage renal disease within the second decade. The cornerstone of management relies on cysteamine therapy to decrease lysosomal cystine accumulation in target organs. However, despite cysteamine therapy, patients display severe bone symptoms, and the

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Mogili Komali, Mogili Komali, Siddhartha Lolla Siddhartha Lolla, Kallam Veena Maheshwar Reddy Kallam Veena Maheshwar Reddy, et al. "“A Review Article On: Cystinosis”." International Journal of Pharmaceutical Research and Applications 10, no. 1 (2025): 131–44. https://doi.org/10.35629/4494-1001131144.

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A rare autosomal recessive condition called cystinosis is characterized by a buildup of cystine in the lysosomes. The transfer of cystine from the lysosomes into the cytosol is disrupted by pathogenic mutations of the cystinosis gene (CTNS). Cysteine buildup inside lysosomes causes cellular malfunction later on. An incidence of 0.5– 1/100,000 live birth is associated with cystinosis. Nephropathic cystinosis is the most common disease subtype among the three types of cystinosis: neonatal cystinosis, juvenile cystinosis, and ocular cystinosis. The most prevalent way that disease manifests itself

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Anikster, Yair, Cynthia Lucero, Jeffrey W. Touchman, et al. "Identification and Detection of the Common 65-kb Deletion Breakpoint in the Nephropathic Cystinosis Gene (CTNS)." Molecular Genetics and Metabolism 66, no. 2 (1999): 111–16. http://dx.doi.org/10.1006/mgme.1998.2790.

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Dhiman, Shweta, Santosh K. Mahapatra, Anjalika Parhi, Pallavi Shree, and Parul Jain. "Ocular cystinosis – Clinical presentation and review of the literature." Indian Journal of Ophthalmology - Case Reports 4, no. 2 (2024): 444–48. http://dx.doi.org/10.4103/ijo.ijo_1944_23.

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Cystinosis is one of the rarest multisystem lysosomal storage disorders characterized by the accumulation of cystine in lysosomes due to a defective CTNS gene. Infantile nephropathic cystinosis (INC) is the most common and severe phenotype. Varied ocular manifestations have been described in the literature, but few are rarely reported. We are documenting those rare findings in three children who were referred from the Pediatric department. As the disease presents with typical ocular features, they can be used as the diagnostic criteria expediting the time of diagnosis and early institution of

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Abdullah Yeşilkaya, Ayşe Akhan, and Ayşe Altun Gezgel. "Pre-operative anesthesia management of a child patient with Cystinosis." World Journal of Biology Pharmacy and Health Sciences 17, no. 1 (2024): 057–60. http://dx.doi.org/10.30574/wjbphs.2024.17.1.0526.

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Cystinosis is an autosomal recessive lysosomal storage disease caused by CTNS gene mutation, characterized by abnormal accumulation of cysteine amino acid. Its prevalence is approximately between 1:100,000 and 1:200,000. It may affect internal organs such as the cornea, bone marrow, thyroid, liver and kidneys. It is divided into three groups: infantile nephropathic, juvenile nephropathic and ocular cystinosis. There are limited reports in the literature regarding the peroperative management of these patients. We wanted to focus on the peroperative anesthesia management of our patient who was d

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Abdullah, Yeşilkaya, Akhan Ayşe, and Altun Gezgel Ayşe. "Pre-operative anesthesia management of a child patient with Cystinosis." World Journal of Biology Pharmacy and Health Sciences 17, no. 1 (2024): 057–60. https://doi.org/10.5281/zenodo.11244647.

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Cystinosis is an autosomal recessive lysosomal storage disease caused by CTNS gene mutation, characterized by abnormal accumulation of cysteine amino acid. Its prevalence is approximately between 1:100,000 and 1:200,000. It may affect internal organs such as the cornea, bone marrow, thyroid, liver and kidneys. It is divided into three groups: infantile nephropathic, juvenile nephropathic and ocular cystinosis. There are limited reports in the literature regarding the peroperative management of these patients. We wanted to focus on the peroperative anesthesia management of our patient who was d

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Syres, Kimberly, Frank Harrison, Matthew Tadlock, et al. "Successful treatment of the murine model of cystinosis using bone marrow cell transplantation." Blood 114, no. 12 (2009): 2542–52. http://dx.doi.org/10.1182/blood-2009-03-213934.

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Abstract Cystinosis is an autosomal recessive metabolic disease that belongs to the family of lysosomal storage disorders. The defective gene is CTNS encoding the lysosomal cystine transporter, cystinosin. Cystine accumulates in every organ in the body and leads to organ damage and dysfunction, including renal defects. Using the murine model for cystinosis, Ctns−/− mice, we performed syngeneic bone marrow cell (BMC), hematopoietic stem cell (HSC), and mesenchymal stem cell transplantation. Organ-specific cystine content was reduced by 57% to 94% in all organs tested in the BMC-treated mice. Co

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Gün, Büşra, and Semih Yilmaz. "BACILLUS ORIGINATED TRANSGLUTAMINASE: PROPERTIES AND USAGE." Current Trends in Natural Sciences 11, no. 21 (2022): 194–201. http://dx.doi.org/10.47068/ctns.2022.v11i21.022.

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Enzymes with very important duties, form part of our lives and are useful in various fields. Owing to both the intensity of use and the amount of effective production in standard conditions, the production and use of bacterial-originated enzymes are used continuously in agriculture, health, food and many other industrial areas. Among them, transglutaminases (EC 2.3.2.13) are both intracellular and extracellular enzymes included in the transferase group that catalyse cross-links between proteins. Microbial transglutaminase enzymes are frequently used in the food and pharmaceutical industries to

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Benoussaid, Nacera, Dalila Boubetra, Affaf Laassami, et al. "NEW THERMOPHILIC THERMOBIFIDA STRAIN KB-T3 FROM ALGERIAN SAHARAN SOIL: ISOLATION AND POLYPHASIC TAXONOMY." Current Trends in Natural Sciences 11, no. 21 (2022): 339–45. http://dx.doi.org/10.47068/ctns.2022.v11i21.037.

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During a screening for the diversity of actinobacterial strains from Saharan soil samples collected from Béchar region (Algeria), one strain designated KB-T3 was isolated by dilution technique on chitin-vitamins agar medium. The taxonomic position of this strain was determined by using a polyphasic approach. Morphological and chemical characteristics of the KB-T3 strain were consistent with those of the genus Thermobifida. The KB-T3 strain had a white aerial mycelium with dictomically branched sporophores carrying coccoid secluded spores. The substrate mycelium was pale yellow, sterile, and no

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Shimizu, Yukiko, Rieko Yanobu-Takanashi, Kenta Nakano, Kenji Hamase, Toshiaki Shimizu, and Tadashi Okamura. "A deletion in the Ctns gene causes renal tubular dysfunction and cystine accumulation in LEA/Tohm rats." Mammalian Genome 30, no. 1-2 (2018): 23–33. http://dx.doi.org/10.1007/s00335-018-9790-3.

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Wang, Yanping, Gui-Rong Wang, Aikiesha Shelby, Nadja B. Shoemaker, and Abigail A. Salyers. "A Newly Discovered Bacteroides Conjugative Transposon, CTnGERM1, Contains Genes Also Found in Gram-Positive Bacteria." Applied and Environmental Microbiology 69, no. 8 (2003): 4595–603. http://dx.doi.org/10.1128/aem.69.8.4595-4603.2003.

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ABSTRACT Results of a recent study of antibiotic resistance genes in human colonic Bacteroides strains suggested that gene transfer events between members of this genus are fairly common. The identification of Bacteroides isolates that carried an erythromycin resistance gene, ermG, whose DNA sequence was 99% identical to that of an ermG gene found previously only in gram-positive bacteria raised the further possibility that conjugal elements were moving into Bacteroides species from other genera. Six of seven ermG-containing Bacteroides strains tested were able to transfer ermG by conjugation.

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Villela, Darine, Lilian Kimura, David Schlesinger, et al. "Germline DNA copy number variation in individuals with Argyrophilic grain disease reveals CTNS as a plausible candidate gene." Genetics and Molecular Biology 36, no. 4 (2013): 498–501. http://dx.doi.org/10.1590/s1415-47572013000400006.

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Elias, Amer, Hala Kassis, Suha Abd Elkader, et al. "HK022 bacteriophage Integrase mediated RMCE as a potential tool for human gene therapy." Nucleic Acids Research 48, no. 22 (2020): 12804–16. http://dx.doi.org/10.1093/nar/gkaa1140.

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Abstract HK022 coliphage site-specific recombinase Integrase (Int) can catalyze integrative site-specific recombination and recombinase-mediated cassette exchange (RMCE) reactions in mammalian cell cultures. Owing to the promiscuity of the 7 bp overlap sequence in its att sites, active ‘attB’ sites flanking human deleterious mutations were previously identified that may serve as substrates for RMCE reactions for future potential gene therapy. However, the wild type Int proved inefficient in catalyzing such RMCE reactions. To address this low efficiency, variants of Int were constructed and exa

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Cheng, Qi, Brian J. Paszkiet, Nadja B. Shoemaker, Jeffrey F. Gardner, and Abigail A. Salyers. "Integration and Excision of aBacteroides Conjugative Transposon, CTnDOT." Journal of Bacteriology 182, no. 14 (2000): 4035–43. http://dx.doi.org/10.1128/jb.182.14.4035-4043.2000.

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ABSTRACT Bacteroides conjugative transposons (CTns) are thought to transfer by first excising themselves from the chromosome to form a nonreplicating circle, which is then transferred by conjugation to a recipient. Earlier studies showed that transfer of mostBacteroides CTns is stimulated by tetracycline, but it was not known which step in transfer is regulated. We have cloned and sequenced both ends of the Bacteroides CTn, CTnDOT, and have used this information to examine excision and integration events. A segment of DNA that contains the joined ends of CTnDOT and an adjacent open reading fra

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Sumayao, Rodolfo, Philip Newsholme, and Tara McMorrow. "The Role of Cystinosin in the Intermediary Thiol Metabolism and Redox Homeostasis in Kidney Proximal Tubular Cells." Antioxidants 7, no. 12 (2018): 179. http://dx.doi.org/10.3390/antiox7120179.

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Cystinosin is a lysosomal transmembrane protein which facilitates transport of the disulphide amino acid cystine (CySS) from the lysosomes of the cell. This protein is encoded by the CTNS gene which is defective in the lysosomal storage disorder, cystinosis. Because of the apparent involvement of cystinosin in the intermediary thiol metabolism, its discovery has fuelled investigations into its role in modulating cellular redox homeostasis. The kidney proximal tubular cells (PTCs) have become the focus of various studies on cystinosin since the protein is highly expressed in these cells and kid

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Attard, M., G. Jean, L. Forestier, et al. "Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin." Human Molecular Genetics 8, no. 13 (1999): 2507–14. http://dx.doi.org/10.1093/hmg/8.13.2507.

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Yiğit, Merve, and Mehmet Gökhan Halici. "DNA BARCODING OF SOME LICHENIZED AND LICHENICOLOUS FUNGI FROM GALINDEZ ISLAND (ANTARCTIC PENINSULA, ANTARCTICA)." CURRENT TRENDS IN NATURAL SCIENCES 13, no. 25 (2024): 61–72. https://doi.org/10.47068/ctns.2024.v13i25.008.

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Galindez Island (65° 15′ S, 64° 15′ W) is one of the Argentine Islands located in the West Antarctic Peninsula, 5-6 km away from the main continent. It has a total surface area of 0.8 km2 and an annual temperature range of 9–13°С. There are not many studies providing information about lichenized fungi on Galindez Island. This study aimed to DNA barcode some lichenized and lichenicolous fungi from Galindez Island (Antarctic Peninsula, Antarctica). Lichenized fungi were collected from Galindez Island during the 2016-2017 Austral Summer. Stereo and light microscopes were used for the identificati

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