Results 41 to 50 of about 2,755 (211)

Effect of co-culture with CTNS-expressing cells on cystine content of mutant CTNS cells.

, 2013
(a) Cystine content of CTNS(−/−) fibroblasts co-cultured with increasing amounts of wildtype amMSC. (b) Cystine content of GFP-tagged CTNS(−/−) ciPTEC isolated by FACS after co-culture with unlabelled wildtype amMSC, mutant ciPTEC or CTNS-corrected ...
Reyhan El-Kares (311952), Nicoletta Eliopoulos (311965), Jing Zhao (21160), Diana M. Iglesias (311951), Lambertus van den Heuvel (311962), Francesco Bellomo (311954), Jaan Toelen (311961), Yoon Kow Young (311964), LeeLee Chu (311963), Paul Goodyer (311966), Francesco Emma (311956), Anna Taranta (311953), Elena Levtchenko (311960), Martine Besouw (311958)   +13 more
core   +1 more source

Cystinosis (ctns) zebrafish mutant shows pronephric glomerular and tubular dysfunction

, 2017
The human ubiquitous protein cystinosin is responsible for transporting the disulphide amino acid cystine from the lysosomal compartment into the cytosol.
Elena Levtchenko, Khodaparast, Ladan, de Witte, Peter, Tylzanowski, Przemko, Khodaparast, Laleh, Baelde, H.J., Anna Pastore, de Witte, Peter A, Peter A. de Witte, Lowe, Martin; id_orcid, Ladan Khodaparast, Pastore, Anna, Mohamed A. Elmonem, Annelii Ny, Ramzi Khalil, Fanny O. Arcolino, Tylzanowski, P., Morgan, J., Hans J. Baelde, Levtchenko, Elena, Witte, P.A. de, Arcolino, F.O., Lowe, Martin, Ny, A., Martin Lowe, Przemko Tylzanowski, van den Heuvel, Bert, Lowe, M., Levtchenko, E., Oliveira Arcolino, Fanny, Heuvel, L.P. van den, Laleh Khodaparast, Pastore, A., Arcolino, Fanny O, Khodaparast, L., Lambertus P. van den Heuvel, Khalil, R., Khalil, Ramzi, Ibrahim, Mohamed, Joseph Morgan, Morgan, Joseph, Elmonem, M.A., Baelde, Hans J, Khalil, R, Baelde, Hans J., Khodaparast, L, van den Heuvel, Lambertus P, Levtchenko, E.N., Ny, Annelii, Elmonem, Mohamed A   +49 more
core   +2 more sources

Computational prediction of deleterious nonsynonymous SNPs in the CTNS gene: implications for cystinosis. [PDF]

BMC Genom Data
Background Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene, which encodes cystinosin, a lysosomal cystine transporter.
Adda Neggaz L, Dahmani AC, Derriche I, Adda Neggaz N, Boudjema A.   +4 more
europepmc   +2 more sources

Physics‐Based Compact Modeling of Advanced 3D Nanoscale Vertical NAND Flash Memory

Advanced Electronic Materials, EarlyView.
For advanced 3D NAND flash memory, a unified compact model for SPICE is proposed that spans from the intrinsic unit cell to the full string and captures the electrostatic coupling with adjacent inhibit strings. It can successfully predict read behavior, program/erase dynamics, and interactions between neighboring cells, reflecting array‐level behavior ...
Ilho Myeong, Seonho Shin, Ickhyun Song
wiley   +1 more source

Histological features of kidneys from Ctns^Y226X/Y226X vs. Ctns^+/+mice.

, 2019
A. Cystine crystals in 6-months old Ctns+/+ and CtnsY226X/Y226X female kidney. B. Bowman’s capsule/proximal tubule lesions in 6-month old CtnsY226X/Y226X male kidney vs Ctns+/+ wildtype.
Pedro Huertas (4891903), Emma J. Brasell (8081969), Lee Lee Chu (8081972), Yojiro Yamanaka (7589195), Iris Alroy (8081981), Paul Goodyer (311966), Brian M. Gilfix (8081987), Murielle M. Akpa (8081975), Idit Eshkar-Oren (8081978), Rachel Corsini (8081984)   +9 more
core   +1 more source

Clinical Predictors of Response in Chronic Graft‐Versus‐Host Disease: Results From the “Predicting the Quality of Response to Specific Treatments (PQRST)” Trial

American Journal of Hematology, EarlyView.
ABSTRACT Despite significant progress in chronic GVHD therapies, challenges remain in understanding pleomorphic phenotypes and varying responses to treatment. The aim of this study was to identify predictors of treatment response. We conducted a prospective, observational cohort study of patients beginning first‐, second‐, or third‐line systemic ...
Betty K. Hamilton, Lynn Onstad, Paul A. Carpenter, Joseph Pidala, George Chen, Corey Cutler, Najla El Jurdi, Nosha Farhadfar, Mark Juckett, Carrie L. Kitko, Catherine J. Lee, Stephanie J. Lee   +11 more
wiley   +1 more source

Mechanisms of bacterial membrane permeabilization by crotalicidin (Ctn) and its fragment Ctn(15–34), antimicrobial peptides from rattlesnake venom [PDF]

Journal of Biological Chemistry, 2018
Crotalicidin (Ctn), a cathelicidin-related peptide from the venom of a South American rattlesnake, possesses potent antimicrobial, antitumor, and antifungal properties. Previously, we have shown that its C-terminal fragment, Ctn(15-34), retains the antimicrobial and antitumor activities but is less toxic to healthy cells and has improved serum ...
Peinado, Clara Pérez, Dias, Susana, Domingues, Marco André Manso, Benfield, Aurélie H., Freire, João Miguel, Rádis-Baptista, Gandhi, Gaspar, Diana, Castanho, Miguel A. R. B., Craik, David J., Henriques, Sónia Troeira, Veiga, Ana Salome, Andreu, David   +11 more
openaire   +7 more sources

Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis

Diagnostic Pathology, 2022
Abstract Background Ocular cystinosis is a rare autosomal recessive disorder characterized by intralysosomal cystine accumulation in renal, ophthalmic (cornea, conjunctiva), and other organ abnormalities. Patients with ocular cystinosis are mostly asymptomatic and typically experience mild photophobia due to cystine ...
Latifa Chkioua, Yessine Amri, Chaima Saheli, Wassila Mili, Sameh Mabrouk, I. Chabchoub, Hela Boudabous, Wissem Ben Azzouz, Hadhami Ben Turkia, Salima Ferchichi, Néji Tebib, Taieb Massoud, Mohamed Ghorbel, Sandrine Laradi   +13 more
openaire   +3 more sources

An unusual titanosaur axis from the Upper Cretaceous of Brazil and its significance for sauropod anatomy and systematics

The Anatomical Record, EarlyView.
Abstract The Upper Cretaceous São José do Rio Preto Formation (Bauru Group, southeastern Brazil) has yielded a fragmentary but taxonomically diverse record of titanosaur sauropods, although elements from cervical series remain scarce. Here, we describe a nearly complete sauropod axis from the Vila Ventura Paleontological Area, representing an uncommon ...
Bruno A. Navarro, Jeffrey A. Wilson Mantilla, Jhonata H. A. Martins, Fabiano V. Iori, Leonardo S. Paschoa, Alberto B. Carvalho, Joseli M. Piranha, Hussam Zaher   +7 more
wiley   +1 more source

Impairment of chaperone‐mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis

EMBO Molecular Medicine, 2015
Metabolite accumulation in lysosomal storage disorders (LSDs) results in impaired cell function and multi‐systemic disease. Although substrate reduction and lysosomal overload‐decreasing therapies can ameliorate disease progression, the significance of ...
Gennaro Napolitano, Jennifer L Johnson, Jing He, Celine J Rocca, Jlenia Monfregola, Kersi Pestonjamasp, Stephanie Cherqui, Sergio D Catz   +7 more
doaj   +1 more source