| Omic Studies on In Vitro Cystinosis Model: siRNA-Mediated CTNS Gene Silencing in HK-2 Cells. | Omic Studies on In Vitro Cystinosis Model: siRNA-Mediated CTNS Gene Silencing in HK-2 Cells.
Baysal İ, Yabanoglu-Ciftci S, Nemutlu E, Eylem CC, Gök-Topak ED, Ulubayram K, Kır S, Gulhan B, Uçar G, Ozaltin F, Topaloglu R. | 02/1/2024 |
| Studies with Human-Induced Pluripotent Stem Cells Reveal That CTNS Mutations Can Alter Renal Proximal Tubule Differentiation. | Studies with Human-Induced Pluripotent Stem Cells Reveal That CTNS Mutations Can Alter Renal Proximal Tubule Differentiation.
Thiyagarajan R, Taub M., Free PMC Article | 12/20/2023 |
| Clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis. | Clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis.
El Younsi M, Trabelsi M, Ben Youssef S, Ouertani I, Hammi Y, Achour A, Maazoul F, Kharrat M, Gargah T, M'rad R. | 01/11/2023 |
| Cystinosis and two rare mutations in CTNS gene: two case reports. | Cystinosis and two rare mutations in CTNS gene: two case reports.
Gholami Yarahmadi S, Sarlaki F, Morovvati S., Free PMC Article | 07/30/2022 |
| Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis. | Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis.
Chkioua L, Amri Y, Saheli C, Mili W, Mabrouk S, Chabchoub I, Boudabous H, Azzouz WB, Turkia HB, Ferchichi S, Tebib N, Massoud T, Ghorbel M, Laradi S., Free PMC Article | 05/14/2022 |
| Hematopoietic Stem Cell Gene Therapy for Cystinosis: From Bench-to-Bedside. | Hematopoietic Stem Cell Gene Therapy for Cystinosis: From Bench-to-Bedside.
Cherqui S., Free PMC Article | 01/22/2022 |
| Cystinosis induced by CTNS gene mutation: a rare disease study.", trans "CTNS. | Cystinosis induced by CTNS gene mutation: a rare disease study.
Wang X, Zhang BL, Chen XY, Guo Z., Free PMC Article | 12/25/2021 |
| Response to Cysteamine in Osteoclasts Obtained from Patients with Nephropathic Cystinosis: A Genotype/Phenotype Correlation. | Response to Cysteamine in Osteoclasts Obtained from Patients with Nephropathic Cystinosis: A Genotype/Phenotype Correlation.
Quinaux T, Bertholet-Thomas A, Servais A, Boyer O, Vrillon I, Hogan J, Lemoine S, Gaillard S, Alioli C, Vasseur S, Acquaviva C, Peyruchaud O, Machuca-Gayet I, Bacchetta J., Free PMC Article | 11/22/2021 |
| Assessing the integrity of auditory processing and sensory memory in adults with cystinosis (CTNS gene mutations). | Assessing the integrity of auditory processing and sensory memory in adults with cystinosis (CTNS gene mutations).
Francisco AA, Berruti AS, Kaskel FJ, Foxe JJ, Molholm S., Free PMC Article | 07/24/2021 |
| We present a case of ocular cystinosis caused by two potentially severe CTNS gene mutations. The lack of renal involvement may be due to localised (ocular) aberrant CTNS RNA splicing. | A case of ocular cystinosis associated with two potentially severe CTNS mutations.
Browning AC, Figueiredo GS, Baylis O, Montgomery E, Beesley C, Molinari E, Figueiredo FC, Sayer JA. | 03/14/2020 |
| Human cystinosin expressed in this yeast confers growth on cystine when the protein is mistargeted to the plasma membrane by the deletion of the C-terminal targeting signal, GYQDL. | A Genetic Screen for Investigating the Human Lysosomal CystineTransporter, Cystinosin.
Deshpande AA, Shukla A, Bachhawat AK., Free PMC Article | 09/21/2019 |
| CTNS gene mutation is associated with cystinosis. | The diagnosis of cystinosis in patients reveals new CTNS gene mutations in the Chinese population.
Li XQ, Wu D, Liang XJ, Li WJ, Liu M, Cao BY, Su C, Meng X, Gong CX. | 08/10/2019 |
| Cystinosis was primarily diagnosed by a pediatric nephrologist and then referred to the Iran University of Medical Sciences genetics clinic for consultation and molecular analysis, which involved polymerase chain reaction (PCR) amplification to determine the presence or absence of the 57-kb founder deletion in CTNS, followed by direct sequencing of the coding exons of CTNS | CTNS molecular genetics profile in a Persian nephropathic cystinosis population.
Ghazi F, Hosseini R, Akouchekian M, Teimourian S, Ataei Kachoei Z, Otukesh H, Gahl WA, Behnam B. | 05/26/2018 |
| Potential dual function of PQ-loop proteins such as cystinosin. | Potential dual function of PQ-loop proteins such as cystinosin.
Saudek V., Free PMC Article | 01/6/2018 |
| To study the role of the cystinosin-LKG-isoform, we have investigated cystine accumulation and apoptosis that have been described in cystinotic cells. The levels of TNFalpha- and actinomycin D-inducted apoptosis dropped in cystinotic cells expressing LKG-isoform. This effect was also similar to the main isoform. | Cystinosin-LKG rescues cystine accumulation and decreases apoptosis rate in cystinotic proximal tubular epithelial cells.
Taranta A, Bellomo F, Petrini S, Polishchuk E, De Leo E, Rega LR, Pastore A, Polishchuk R, De Matteis MA, Emma F. | 11/4/2017 |
| This work demonstrated no major abnormality ofER and lysosomal Ca2+signalling associated with cystinosin defi-ciency in human proximal tubular epithelial cells. | Ca(2+) signalling in human proximal tubular epithelial cells deficient for cystinosin.
Ivanova EA, Elmonem MA, Bongaerts I, Luyten T, Missiaen L, van den Heuvel LP, Levtchenko EN, Bultynck G. | 11/4/2017 |
| The coding exons of the CTNS gene in 5 different Jordanian families and one family from Sudan with nephropathic cystinosis were sequenced. None had the European 57-kb deletion. 7 variants in the coding and promoter sequence of the CTNS gene were found: 294C>T, -180T>C, -118C>T, c.504G>A, p.Thr168Thr, c.829dupA in exon 10, and c.890G>A in exon 11. | Molecular analysis of the CTNS gene in Jordanian families with nephropathic cystinosis.
Jaradat S, Al-Rababah B, Hazza I, Akl K, Saca E, Al-Younis D. | 08/26/2017 |
| Results show that the high turnover of ITILELP mutation (del AA67-73) in cystinosin, because of its immature glycosylation state together with low transport activity, might be responsible for the phenotype observed in some cystinosis patients who carry this mutation. | Impact of Cystinosin Glycosylation on Protein Stability by Differential Dynamic Stable Isotope Labeling by Amino Acids in Cell Culture (SILAC).
Nevo N, Thomas L, Chhuon C, Andrzejewska Z, Lipecka J, Guillonneau F, Bailleux A, Edelman A, Antignac C, Guerrera IC., Free PMC Article | 07/24/2017 |
| silencing of AP-2 triggers the clathrin-independent endocytosis, showing the complex adaptability of cystinosin-LKG trafficking | Carboxyl-Terminal SSLKG Motif of the Human Cystinosin-LKG Plays an Important Role in Plasma Membrane Sorting.
Bellomo F, Taranta A, Petrini S, Venditti R, Rocchetti MT, Rega LR, Corallini S, Gesualdo L, De Matteis MA, Emma F., Free PMC Article | 07/15/2017 |
| upon comparison of the patients with cystinosis in this particular region with the European and North American patients, it is clear that different CTNS variants result in this disease. | Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey.
Önenli-Mungan N, Kör D, Karabay-Bayazıt A, Cengiz N, Yavuz S, Noyan A, Ceylaner G, Şeker-Yılmaz B, Topaloğlu AK, Yüksel B, Anarat A. | 07/8/2017 |
| GCK mutations are associated with Cystinosis. | Cystinosis in Eastern Turkey.
Doğan M, Bulan K, Kaba S, Cesur Y, Ceylaner S, Ustyol L. | 05/6/2017 |
| Lack of cystinosin reduced TFEB expression and induced TFEB nuclear translocation. | Activation of the transcription factor EB rescues lysosomal abnormalities in cystinotic kidney cells.
Rega LR, Polishchuk E, Montefusco S, Napolitano G, Tozzi G, Zhang J, Bellomo F, Taranta A, Pastore A, Polishchuk R, Piemonte F, Medina DL, Catz SD, Ballabio A, Emma F. | 02/4/2017 |
| CTNS deficiency alters cell signaling cascades resulting in impaired cell adhesion and enhanced cell motility in cystinosis. | Cystinosin deficiency causes podocyte damage and loss associated with increased cell motility.
Ivanova EA, Arcolino FO, Elmonem MA, Rastaldi MP, Giardino L, Cornelissen EM, van den Heuvel LP, Levtchenko EN. | 01/28/2017 |
| Using polymerase chain reaction sequencing of the entire coding region, we identified five gene mutations, including two unreported mutations. | A case of corneal cystinosis in a patient with rickets and chronic renal failure.
Won JY, Hwang HB, Chung SK., Free PMC Article | 12/17/2016 |
| cystinosin-deficient cells had abnormal shape and distribution of the endo-lysosomal compartments and impaired endocytosis, with decreased surface expression of multiligand receptors and delayed lysosomal cargo processing. | Endo-lysosomal dysfunction in human proximal tubular epithelial cells deficient for lysosomal cystine transporter cystinosin.
Ivanova EA, De Leo MG, Van Den Heuvel L, Pastore A, Dijkman H, De Matteis MA, Levtchenko EN., Free PMC Article | 03/5/2016 |